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Sample records for bilateral adrenal hyperplasia

  1. Failure to visualize adrenal glands in a patient with bilateral adrenal hyperplasia

    International Nuclear Information System (INIS)

    Gordon, L.; Mayfield, R.K.; Levine, J.H.; Lopes-Virella, M.F.; Sagel, J.; Buse, M.G.

    1980-01-01

    A patient with clinical and biochemical evidence of Cushing's disease and severe hyperlipidemia underwent an adrenal imaging procedure with NP-59 (6β-[ 131 I]iodomethyl-19-norcholesterol), without visualization of either gland. Correction of the hyperlipidemia followed by repeated adrenal imaging resulted in bilateral visualization. A pituitary tumor was removed at surgery, confirming the diagnosis of Cushing's disease

  2. Diabetic fetopathy associated with bilateral adrenal hyperplasia and ambiguous genitalia: a case report

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    Tantbirojn Patou

    2008-07-01

    Full Text Available Abstract Introduction Many fetal malformations can occur because of maternal diabetes. However, ambiguous genital organs have never been reported as an associated finding in the literature. This is the first report of associated ambiguous genital organ and bilateral adrenal hyperplasia in a case of diabetic fetopathy. Case presentation A 19-year-old Thai primigravida with familial history of diabetes mellitus (DM was diagnosed as having gestational DM type 2, based on 100 g oral glucose tolerance test, and was poorly controlled with insulin injections. Delayed targeted ultrasonography at 28 weeks gestation revealed multiple fetal anomalies. The woman underwent low transverse cesarean section at 30 weeks gestation due to preterm labor and transverse lie. The newborn with ambiguous genitalia was delivered but expired after birth. Autopsy findings revealed alobar holoprosencephaly, a prominent forehead, hypotelorism, an absent nose, absent bilateral ears, median cleft lip and palate, preaxial polydactyly of the right hand, accessory spleens, single umbilical artery, markedly enlarged adrenal glands and ambiguous external genitalia The subsequent fetal chromosomal study revealed 46,XX. Conclusion We describe a case of diabetic fetopathy with classic facial malformation and preaxial hallucal polydactyly which has been proposed as a marker of diabetic embryopathy. Bilateral adrenal hyperplasia with ambiguous genitalia, an uncommon associated anomaly, was also identified. It is controversial whether adrenal hyperplasia can be a novel feature of diabetic fetopathy or just a coincidental finding. Further observation and adequate investigation are needed in such cases.

  3. Cell-to-cell communication in bilateral macronodular adrenal hyperplasia causing hypercortisolism

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    Herve eLefebvre

    2015-04-01

    Full Text Available It has been well established that, in the human adrenal gland, cortisol secretion is not only controlled by circulating corticotropin but is also influenced by a wide variety of bioactive signals, including conventional neurotransmitters and neuropeptides, released within the cortex by various cell types such as chromaffin cells, neurons, cells of the immune system, adipocytes and endothelial cells. These different types of cells are present in bilateral macronodular adrenal hyperplasia, a rare etiology of primary adrenal Cushing’s syndrome, where they appear intermingled with adrenocortical cells in the hyperplastic cortex. In addition, the genetic events which cause the disease favor abnormal adrenal differenciation that results in illicit expression of paracrine regulatory factors and their receptors in adrenocortical cells. All these defects constitute the molecular basis for aberrant autocrine/paracrine regulatory mechanisms which are likely to play a role in the pathophysiology of bilateral macronodular adrenal hyperplasia-associated hypercortisolism. The present review summarizes the current knowledge on this topic as well as the therapeutic perspectives offered by this new pathophysiological concept.

  4. Gamma camera imaging of bilateral adrenocartical hyperplasia and adrenal tumors in the dog

    International Nuclear Information System (INIS)

    Mulnix, J.A.; Van den Brom, W.E.; Lubberink, A.A.; de Bruijne, J.J.; Rijnberk, A.

    1976-01-01

    Gamma camera imaging of the adrenal glands was done in 8 dogs with hyperadrenocorticism and 4 normal dogs given intravenous injections of 131I-19-iodocholesterol. In normal dogs, both adrenal glands could be visualized separately, and there was no difficulty in distinguishing among the images of normal glands, hyperplastic glands, and functional adrenal tumors. In addition, gamma camera imaging enabled the correct surgical site to be selected for removal of adrenal tumors. Hyperadrenocorticism was diagnosed in 8 dogs by evaluation of urinary 17-hydroxycorticosteroid (OHCS) excretion rates, urinary 17-OHCS and plasma 11 beta-OHCS responses to dexamethasone suppression of endogenous adrenocorticotropin (ACTH) secretion, and plasma 11 beta-OHCS response to intravenous administration of ACTH. Base line 17-OHCS excretion increased in 5 of the 8 dogs. Plasma 11 beta-OHCS concentrations were not decreased by dexamethasone administration in the 4 dogs subsequently found to have adrenal tumors; however, there was an exaggerated increase in plasma 11 beta-OHCS concentration after administration of ACTH in 3 of the 4 dogs which had bilateral adrenocortical hyperplasia

  5. Multiple osteoblastomas in a child with Cushing syndrome due to bilateral adrenal micronodular hyperplasias

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    Hyeoh Won Yu

    2016-03-01

    Full Text Available Adrenocorticotropin-independent adrenal hyperplasias are rare diseases, which are classified into macronodular (>1 cm and micronodular (≤1 cm hyperplasia. Micronodular adrenal hyperplasia is subdivided into primary pigmented adrenocortical disease and a limited or nonpigmented form 'micronodular adrenocortical disease (MAD', although considerable morphological and genetic overlap is observed between the 2 groups. We present an unusual case of a 44-month-old girl who was diagnosed with Cushing syndrome due to MAD. She had presented with spotty pigmentation on her oral mucosa, lips and conjunctivae and was diagnosed with multiple bone tumors in her femur, pelvis and skull base at the age of 8 years. Her bone tumor biopsies were compatible with osteoblastoma. This case highlights the importance of verifying the clinicopathologic correlation in Cushing syndrome and careful follow-up and screening for associated diseases.

  6. Unilateral nodular adrenal hyperplasia: Case series

    African Journals Online (AJOL)

    A.F. Kotb

    2016-07-26

    Jul 26, 2016 ... Abstract. Introduction: Nodular adrenal hyperplasia is one of rare causes of adrenocortical hyperplasia. The disease usually presents bilaterally. Few publications discussed the possibility of unilateral disease, in association with hyperaldosteronism or Cushing syndrome. Case series: We are reporting 3 ...

  7. Ovarian carcinoma in a 14-year-old with classical salt-wasting congenital adrenal hyperplasia and bilateral adrenalectomy.

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    Pina, Christian; Khattab, Ahmed; Katzman, Philip; Bruckner, Lauren; Andolina, Jeffrey; New, Maria; Yau, Mabel

    2015-05-01

    A 14-year-old female with classical congenital adrenal hyperplasia because of 21-hydroxylase deficiency underwent bilateral adrenalectomy at 6 years of age as a result of poor hormonal control. Because the patient was adrenalectomized, extra adrenal androgen production was suspected. Imaging studies including pelvic ultrasound and pelvic magnetic resonance imaging (MRI) were obtained to evaluate for adrenal rest tumors of the ovaries. Abdominal MRI was obtained to evaluate for residual adrenal tissue. A cystic lesion arising from her right ovary suspicious for ovarian neoplasm was noted on pelvic MRI. Right salpingo-oophorectomy was performed and histopathological examination revealed ovarian serous adenocarcinoma, low-grade, and well-differentiated. Tumor marker CA-125 was elevated and additional ovarian cancer staging workup confirmed stage IIIC due to one lymph node positive for carcinoma. The patient then developed a large left ovarian cyst, which led to a complete total abdominal hysterectomy and removal of the left ovary and fallopian tube. Pathology confirmed ovarian serous adenocarcinoma with microscopic focus of carcinoma in the left ovary. After numerous complications, the patient responded well to chemotherapy, CA-125 levels fell and no evidence of carcinoma was observed on subsequent imaging. To our knowledge, this is the first reported case of an ovarian serous adenocarcinoma in a patient with CAH. Although rare, we propose that the ovaries were the origin of androgen production and not residual adrenal tissue. The relationship between CAH and ovarian carcinomas has yet to be established, but further evaluation is needed given the poor survival rate of high-grade serous ovarian carcinoma.

  8. Nonclassic Congenital Adrenal Hyperplasia

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    Selma Feldman Witchel

    2010-01-01

    Full Text Available Nonclassic congenital adrenal hyperplasia (NCAH due to P450c21 (21-hydroxylase deficiency is a common autosomal recessive disorder. This disorder is due to mutations in the CYP21A2 gene which is located at chromosome 6p21. The clinical features predominantly reflect androgen excess rather than adrenal insufficiency leading to an ascertainment bias favoring diagnosis in females. Treatment goals include normal linear growth velocity and “on-time” puberty in affected children. For adolescent and adult women, treatment goals include regularization of menses, prevention of progression of hirsutism, and fertility. This paper will review key aspects regarding pathophysiology, diagnosis, and treatment of NCAH.

  9. Adrenal medullary hyperplasia. Hyperplasia-pheochromocytoma sequence.

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    Kurihara, K; Mizuseki, K; Kondo, T; Ohoka, H; Mannami, M; Kawai, K

    1990-09-01

    We present a case of unilateral adrenal medullary hyperplasia in a 63-year-old woman with clinical signs and symptoms of pheochromocytoma unassociated with multiple endocrine neoplasia. The surgically removed adrenal gland revealed diffuse medullary hyperplasia with multiple micronodules measuring up to 2 mm. The micronodules were composed of enlarged chromaffin cells with atypia, histologically similar to those of pheochromocytoma, forming small solid alveolar patterns separated by a fibrovascular stroma. Removal of the hyperplastic adrenal gland resulted in disappearance of paroxysmal nocturnal hypertension and palpitation. These results suggest that diffuse and nodular medullary hyperplasia is the precursor of pheochromocytoma.

  10. Genetics Home Reference: primary macronodular adrenal hyperplasia

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    ... Support and Research Foundation: Genetic Changes Found in Cushing's Disease, Adrenal Tumors, and Adrenal Hyperplasia MalaCards: acth-independent ... macronodular adrenal hyperplasia 2 Merck Manual (Home Edition): Cushing ... Adrenal Diseases Foundation: Cushing's Syndrome Orphanet: Cushing syndrome due to ...

  11. [Primary hyperaldosteronism due to unilateral adrenal hyperplasia with surgical resolution].

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    Rubio-Puchol, O; Garzón-Pastor, S; Salom-Vendrell, C; Hernández-Mijares, A

    Unilateral adrenal hyperplasia is a rare cause of primary hyperaldosteronism (around a 3%) that has surgical treatment. A case of a patient with hypertension resistant to conventional therapy in treatment with 7 drugs who presented with primary hyperaldosteronism due to unilateral adrenal hyperplasia is presented. A left adrenalectomy was performed, and the patient had a good clinical response, with no need of any drug after 2 years of surgery. Unilateral adrenal hyperplasia is a different entity and it is not an asymmetric variant of the bilateral adrenal hyperplasia. In the study of patients with primary hyperaldosteronism and imaging tests with absence of adenoma is a diagnosis that must be considered before cataloguing patients with bilateral adrenal hyperplasia and start a medical treatment, because unilateral adrenal hyperplasia would have a surgical resolution. Copyright © 2016 SEH-LELHA. Publicado por Elsevier España, S.L.U. All rights reserved.

  12. A Case of Bilateral Testicular Tumors Subsequently Diagnosed as Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency

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    Yan-Kun Sha

    2016-12-01

    Full Text Available 21-hydroxylase deficiency (21-OHD caused congenital adrenal hyperplasia (CAH is a group of autosomal recessive genetic disorders resulting from mutations in genes involved with cortisol (CO synthesis in the adrenal glands. Testicular adrenal rest tumors (TARTs are rarely the presenting symptoms of CAH. Here, we describe a case of simple virilizing CAH with TARTs, in a 15-year-old boy. The patient showed physical signs of precocious puberty. The levels of blood adrenocorticotropic hormone (ACTH, urinary 17-ketone steroids (17-KS, dehydroepiandrosterone sulfate (DHEA-S, and serum progesterone (PRGE were elevated, whereas those of follicle-stimulating hormone (FSH, luteinizing hormone (LH, and CO were reduced. Computed tomography (CT of the adrenal glands and magnetic resonance imaging (MRI of the testes showed a soft tissue density (more pronounced on the right side and an irregularly swollen mass (more pronounced on the left side, respectively. Pathological examination of a specimen of the mass indicated polygonal/circular eosinophilic cytoplasm, cord-like arrangement of interstitial cells, and lipid pigment in the cytoplasm. Immunohistochemistry results precluded a diagnosis of Leydig cell tumors. DNA sequencing revealed a hackneyed homozygous mutation, I2g, on intron 2 of the CYP21A2 gene. The patient’s symptoms improved after a three-month of dexamethasone therapy. Recent radiographic data showed reduced hyperplastic adrenal nodules and testicular tumors. A diagnosis of TART should be considered and prioritized in CAH patients with testicular tumors. Replacement therapy using a sufficient amount of dexamethasone in this case helps combat TART.

  13. Congenital Adrenal Hyperplasia

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    ... Español NICHD Theme Browse AZTopics Browse A-Z Adrenal Gland Disorders Autism Spectrum Disorder (ASD) Down Syndrome Endometriosis Learning ... Funding Opportunities & Notices Health A to Z List Adrenal Gland Disorders About NICHD Research Information Find a Study More ...

  14. Single-Session CT-Guided Percutaneous Microwave Ablation of Bilateral Adrenal Gland Hyperplasia Due to Ectopic ACTH Syndrome

    International Nuclear Information System (INIS)

    Sarma, Asha; Shyn, Paul B.; Vivian, Mark A.; Ng, Ju-Mei; Tuncali, Kemal; Lorch, Jorchen H.; Zaheer, Sarah N.; Gordon, Michael S.; Silverman, Stuart G.

    2015-01-01

    Bilateral adrenalectomy is currently the only available treatment for adrenocorticotropic hormone (ACTH)-dependent Cushing’s syndrome (ectopic ACTH syndrome) that is refractory to pharmacologic therapy. We describe two patients with refractory ectopic ACTH syndrome who were treated with CT-guided percutaneous microwave ablation of both hyperplastic adrenal glands in a single session: One was not a surgical candidate, and the other had undergone unsuccessful surgery. Following the procedure, both patients achieved substantial decreases in serum cortisol, symptomatic improvement, and decreased anti-hypertensive medication requirements

  15. Single-Session CT-Guided Percutaneous Microwave Ablation of Bilateral Adrenal Gland Hyperplasia Due to Ectopic ACTH Syndrome

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    Sarma, Asha, E-mail: ashasarma@gmail.com; Shyn, Paul B., E-mail: pshyn@partners.org [Brigham and Women’s Hospital, Department of Radiology (United States); Vivian, Mark A. [University of Manitoba, Department of Radiology (Canada); Ng, Ju-Mei [Brigham and Women’s Hospital, Department of Anesthesiology (United States); Tuncali, Kemal [Brigham and Women’s Hospital, Department of Radiology (United States); Lorch, Jorchen H. [Dana Farber Cancer Institute, Department of Medicine (United States); Zaheer, Sarah N.; Gordon, Michael S. [Brigham and Women’s Hospital, Department of Endocrinology (United States); Silverman, Stuart G. [Brigham and Women’s Hospital, Department of Radiology (United States)

    2015-10-15

    Bilateral adrenalectomy is currently the only available treatment for adrenocorticotropic hormone (ACTH)-dependent Cushing’s syndrome (ectopic ACTH syndrome) that is refractory to pharmacologic therapy. We describe two patients with refractory ectopic ACTH syndrome who were treated with CT-guided percutaneous microwave ablation of both hyperplastic adrenal glands in a single session: One was not a surgical candidate, and the other had undergone unsuccessful surgery. Following the procedure, both patients achieved substantial decreases in serum cortisol, symptomatic improvement, and decreased anti-hypertensive medication requirements.

  16. Unilateral nodular adrenal hyperplasia: Case series | Kot | African ...

    African Journals Online (AJOL)

    Introduction: Nodular adrenal hyperplasia is one of rare causes of adrenocortical hyperplasia. The disease usually presents bilaterally. Few publications discussed the possibility of unilateral disease, in association with hyperaldosteronism or Cushing syndrome. Case series: We are reporting 3 cases of radiologically ...

  17. Congenital adrenal hyperplasia: Case report.

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    Jaime Avaria E.; María José Vargas F.; Loreto Triviño F.; Andrea Gleisner E.

    2013-01-01

    INTRODUCTION: Congenital adrenal hyperplasia (CAH) is an autosomal recessive disease whose main cause is the deficiency of 21-hydroxylase, an enzyme involved in the synthesis of cortisol and aldosterone. There are two forms of CAH, a classical and nonclassical form, being the first objective of analysis in the clinical case. Its clinical manifestations vary in severity, depending on the level of hormone deficiency. Within the classic is described the salt-wasting form, whose consequences are ...

  18. Testicular Adrenal Rest Tumors (TARTS With Unusual Histological Features in Congenital Adrenal Hyperplasia (CAH

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    Valeri Marianovsky

    2015-07-01

    Full Text Available Congenital adrenal hyperplasia (CAH patients with testicular adrenal rest tumors (TARTs with testicular enlargement present a serious diagnostic challenge. According to the data TARTs are usually benign. They are rare, resulting in paucity in the medical literature regarding their pathological features. We report a case of bilateral synchronous mass-forming TARTs with marked cytological and nuclear atypia misinterpreted as malignant testicular tumors in a 40-years-old man with CAH and CT and MRI data for pheochromocytoma of the right adrenal gland and paraaortal and paracaval lymphadenomegaly. He was previously diagnosed with adrenal cortical carcinoma of the left adrenal gland.

  19. Congenital Adrenal Hyperplasia: Unresolved Issues.

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    Yau, Mabel; Khattab, Ahmed; Poppas, Dix; Ghizzoni, Lucia; New, Maria

    2016-01-01

    Congenital adrenal hyperplasia (CAH) describes a family of disorders that comes from enzymatic deficiencies in cortisol production, with 21-hydroxylase deficiency causing ∼90% of cases. Distinction is made between the severe classical form and milder nonclassical form of CAH. Molecular genetic analysis is used to confirm the hormonal diagnosis. A high rate of genotype-phenotype disconcordance has been found in 21-hydroxylase deficiency. The goal of treatment is to replace with synthetic glucocorticoids and mineralocorticoids and suppress adrenal androgen production. The treatment of patients affected with nonclassical CAH, particularly males, remains controversial. Variable synthetic glucocorticoids are used and new modes of glucocorticoid delivery are under investigation. To improve height, growth hormone and other adjuvant therapies are employed. Long-term outcomes of genital surgery using modern techniques in females affected with classical CAH continue to be investigated. Prenatal treatment with dexamethasone is available to avoid ambiguous genitalia in these females. Although studies have shown its safety to mother and fetus, prenatal treatment is still regarded as experimental. Currently, prenatal diagnosis of CAH can only be obtained through invasive methods. Recently, the detection of cell-free fetal DNA in maternal plasma has made it possible to make this diagnosis earlier and noninvasively. © 2016 S. Karger AG, Basel.

  20. Bilateral adrenal masses: a single-centre experience

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    Nilesh Lomte

    2016-05-01

    Full Text Available Background Bilateral adrenal masses may have aetiologies like hyperplasia and infiltrative lesions, besides tumours. Hyperplastic and infiltrative lesions may have coexisting hypocortisolism. Bilateral tumours are likely to have hereditary/syndromic associations. The data on clinical profile of bilateral adrenal masses are limited. Aims To analyse clinical, biochemical and radiological features, and management outcomes in patients with bilateral adrenal masses. Methods Retrospective analysis of 70 patients with bilateral adrenal masses presenting to a single tertiary care endocrine centre from western India (2002–2015. Results The most common aetiology was pheochromocytoma (40%, followed by tuberculosis (27.1%, primary adrenal lymphoma (PAL (10%, metastases (5.7%, non-functioning adenomas (4.3%, primary bilateral macronodular adrenal hyperplasia (4.3%, and others (8.6%. Age at presentation was less in patients with pheochromocytoma (33 years and tuberculosis (41 years compared with PAL (48 years and metastases (61 years (P<0.001. The presenting symptoms for pheochromocytoma were hyperadrenergic spells (54% and abdominal pain (29%, whereas tuberculosis presented with adrenal insufficiency (AI (95%. The presenting symptoms for PAL were AI (57% and abdominal pain (43%, whereas all cases of metastasis had abdominal pain. Mean size of adrenal masses was the largest in lymphoma (5.5cm followed by pheochromocytoma (4.8cm, metastasis (4cm and tuberculosis (2.1cm (P<0.001. Biochemically, most patients with pheochromocytoma (92.8% had catecholamine excess. Hypocortisolism was common in tuberculosis (100% and PAL (71.4% and absent with metastases (P<0.001. Conclusion In evaluation of bilateral adrenal masses, age at presentation, presenting symptoms, lesion size, and biochemical features are helpful in delineating varied underlying aetiologies.

  1. Bilateral adrenal masses: a single-centre experience

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    Bandgar, Tushar; Khare, Shruti; Jadhav, Swati; Lila, Anurag; Goroshi, Manjunath; Kasaliwal, Rajeev; Khadilkar, Kranti; Shah, Nalini S

    2016-01-01

    Background Bilateral adrenal masses may have aetiologies like hyperplasia and infiltrative lesions, besides tumours. Hyperplastic and infiltrative lesions may have coexisting hypocortisolism. Bilateral tumours are likely to have hereditary/syndromic associations. The data on clinical profile of bilateral adrenal masses are limited. Aims To analyse clinical, biochemical and radiological features, and management outcomes in patients with bilateral adrenal masses. Methods Retrospective analysis of 70 patients with bilateral adrenal masses presenting to a single tertiary care endocrine centre from western India (2002–2015). Results The most common aetiology was pheochromocytoma (40%), followed by tuberculosis (27.1%), primary adrenal lymphoma (PAL) (10%), metastases (5.7%), non-functioning adenomas (4.3%), primary bilateral macronodular adrenal hyperplasia (4.3%), and others (8.6%). Age at presentation was less in patients with pheochromocytoma (33 years) and tuberculosis (41 years) compared with PAL (48 years) and metastases (61 years) (P<0.001). The presenting symptoms for pheochromocytoma were hyperadrenergic spells (54%) and abdominal pain (29%), whereas tuberculosis presented with adrenal insufficiency (AI) (95%). The presenting symptoms for PAL were AI (57%) and abdominal pain (43%), whereas all cases of metastasis had abdominal pain. Mean size of adrenal masses was the largest in lymphoma (5.5cm) followed by pheochromocytoma (4.8cm), metastasis (4cm) and tuberculosis (2.1cm) (P<0.001). Biochemically, most patients with pheochromocytoma (92.8%) had catecholamine excess. Hypocortisolism was common in tuberculosis (100%) and PAL (71.4%) and absent with metastases (P<0.001). Conclusion In evaluation of bilateral adrenal masses, age at presentation, presenting symptoms, lesion size, and biochemical features are helpful in delineating varied underlying aetiologies. PMID:27037294

  2. Staged Bilateral Laparoscopic Adrenalectomy for Infantile ACTH-independent Cushing's Syndrome (Bilateral Micronodular Non-pigmented Adrenal Hyperplasia): A Case Report.

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    Simforoosh, Nasser; Razzaghy Azar, Maryam; Soltani, Mohmmad Hossein; Nourbakhsh, Mona; Shemshaki, Hamidreza

    2017-08-29

    ACTH-independent Cushing's syndrome is an uncommon disorder in children. While laparoscopic adrenalectomy is well-established in adults, it is rarely used in infants and is associated with some concerns. A seven-month infant was referred to our hospital due to progressive signs and symptoms of Cushing's syndrome. Laboratory data confirmed ACTH-independent hypercortisolism. No history of exogenous corticosteroid contact was observed. The patient underwent left transperitoneal laparoscopic adrenalectomy when she was 7 months old, nevertheless,complete response was not seen. The patient underwent right laparoscopic adrenalectomy (contra-lateral adrenal gland) when she was 20 months old. The signs and symptoms of Cushing's syndrome began to resolve and serum and urine cortisol levels became normal 3 months after the second surgery. laparoscopic adrenalectomy is safe and feasible in infants, and in this case, relieved patient of the symptoms and saved her life.

  3. Prenatal Diagnosis of Congenital Adrenal Hyperplasia.

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    Yau, Mabel; Khattab, Ahmed; New, Maria I

    2016-06-01

    Congenital adrenal hyperplasia (CAH) owing to 21-hydroxylase deficiency is a monogenic disorder of adrenal steroidogenesis. To prevent genital ambiguity, in girls, prenatal dexamethasone treatment is administered early in the first trimester. Prenatal genetic diagnosis of CAH and fetal sex determination identify affected female fetuses at risk for genital virilization. Advancements in prenatal diagnosis are owing to improved understanding of the genetic basis of CAH and improved technology. Cloning of the CYP21A2 gene ushered in molecular genetic analysis as the current standard of care. Noninvasive prenatal diagnosis allows for targeted treatment and avoids unnecessary treatment of males and unaffected females. Copyright © 2016 Elsevier Inc. All rights reserved.

  4. Classic congenital adrenal hyperplasia and puberty.

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    Charmandari, Evangelia; Brook, Charles G D; Hindmarsh, Peter C

    2004-11-01

    Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders resulting from deficiency of one of the five enzymes required for synthesis of cortisol in the adrenal cortex. The most common form of the disease is classic 21-hydroxylase deficiency, which is characterized by decreased synthesis of glucocorticoids and often mineralocorticoids, adrenal hyperandrogenism and impaired development and function of the adrenal medulla. The clinical management of classic 21-hydroxylase deficiency is often suboptimal, and patients are at risk of developing in tandem iatrogenic hypercortisolism and/or hyperandogenism. Limitations of current medical therapy include the inability to control hyperandrogenism without employing supraphysiologic doses of glucocorticoid, hyperresponsiveness of the hypertrophied adrenal glands to adrenocorticotropic hormone (ACTH) and difficulty in suppressing ACTH secretion from the anterior pituitary. Puberty imposes increased difficulty in attaining adrenocortical suppression despite optimal substitution therapy and adherence to medical treatment. Alterations in the endocrine milieu at puberty may influence cortisol pharmacokinetics and, consequently, the handling of hydrocortisone used as replacement therapy. Recent studies have demonstrated a significant increase in cortisol clearance at puberty and a shorter half-life of free cortisol in pubertal females compared with males. Furthermore, children with classic CAH have elevated fasting serum insulin concentrations and insulin resistance. The latter may further enhance adrenal and/or ovarian androgen secretion, decrease the therapeutic efficacy of glucocorticoids and contribute to later development of the metabolic syndrome and its complications.

  5. Bilateral spontaneous adrenal haemorrhage complicating acute pancreatitis

    International Nuclear Information System (INIS)

    Pianta, M.; Varma, D. K.

    2007-01-01

    Bilateral adrenal haemorrhage is an event that mandates prompt diagnosis and treatment to prevent primary adrenocortical insufficiency and potential death. Presentation can be non-specific and incidentally diagnosed with imaging alone, primarily CT. We present a case of acute pancreatitis with spontaneous bilateral adrenal haemorrhage and briefly discuss imaging and treatment implications

  6. Radiological findings of congenital lipoid adrenal hyperplasia: a case report

    International Nuclear Information System (INIS)

    Kim, Mi Jeong; Shin, Joo Yong; Lee, Hee Jung; Lee, Jin Hee; Sohn, Cheol Ho; Lee, Sung Moon; Kim, Hong; Woo, Seong Ku; Suh, Soo Ji

    2001-01-01

    Congenital lipoid adrenal hyperplasia (CLAH) is a rare autosomal recessive disorder characterized by the marked accumulation of lipids and cholesterol in the adrenal cortex, and the failure of adrenal steroids to synthesise. We report the ultrasound (US), computed tomographic (CT), and magnetic resonance (MR) imaging findings in a four-day-old female neonate with CLAH

  7. A case of adrenal Cushing's syndrome with bilateral adrenal masses.

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    Guo, Ya-Wun; Hwu, Chii-Min; Won, Justin Ging-Shing; Chu, Chia-Huei; Lin, Liang-Yu

    2016-01-01

    A functional lesion in corticotrophin (ACTH)-independent Cushing's syndrome is difficult to distinguish from lesions of bilateral adrenal masses. Methods for distinguishing these lesions include adrenal venous sampling and (131)I-6β-iodomethyl-19-norcholesterol ((131)I-NP-59) scintigraphy. We present a case of a 29-year-old Han Chinese female patient with a history of hypercholesterolaemia and polycystic ovary syndrome. She presented with a 6month history of an 8kg body weight gain and gradual rounding of the face. Serial examinations revealed loss of circadian rhythm of cortisol, elevated urinary free-cortisol level and undetectable ACTH level (Cushing's syndrome presenting with bilateral adrenal masses. The clinical presentation of Cushing' syndrome includes symptoms and signs of fat redistribution and protein-wasting features.The diagnosis of patients with ACTH-independent Cushing's syndrome with bilateral adrenal masses is challenging for localisation of the lesion.Both adrenal venous sampling and (131)I-NP-59 scintigraphy are good methods to use in these patients with Cushing's syndrome presenting with bilateral adrenal masses.

  8. Congenital adrenal hyperplasia: Treatment and outcomes

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    Mahdi Kamoun

    2013-01-01

    Full Text Available Congenital adrenal hyperplasia (CAH describes a group of autosomal recessive disorders where there is impairment of cortisol biosynthesis. CAH due to 21-hydroxylase deficiency accounts for 95% of cases and shows a wide range of clinical severity. Glucocorticoid and mineralocorticoid replacement therapies are the mainstays of treatment of CAH. The optimal treatment for adults with CAH continues to be a challenge. Important long-term health issues for adults with CAH affect both men and women. These issues may either be due to the disease or to steroid treatment and may affect final height, fertility, cardiometabolic risk, bone metabolism, neuro-cognitive development and the quality-of-life. Patients with CAH should be regularly followed-up from childhood to adulthood by multidisciplinary teams who have knowledge of CAH. Optimal replacement therapy, close clinical and laboratory monitoring, early life-style interventions, early and regular fertility assessment and continuous psychological management are needed to improve outcome.

  9. Adrenomegaly and septic adrenal hemorrhage (Waterhouse-Friderichsen syndrome) in the setting of congenital adrenal hyperplasia

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    Saad, Amin F.; Ford, Kenneth L.; dePrisco, Gregory; Smerud, Michael J.

    2013-01-01

    Congenital adrenal hyperplasia refers to a spectrum of autosomal recessive inherited disorders of steroidogenesis most commonly identified on newborn screenings. We describe a young woman who presented with abdominal pain and on subsequent imaging was found to have features of congenital adrenal hyperplasia. Imaging findings, treatment, and potential complications are discussed.

  10. Adrenomegaly and septic adrenal hemorrhage (Waterhouse-Friderichsen syndrome) in the setting of congenital adrenal hyperplasia.

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    Saad, Amin F; Ford, Kenneth L; Deprisco, Gregory; Smerud, Michael J

    2013-07-01

    Congenital adrenal hyperplasia refers to a spectrum of autosomal recessive inherited disorders of steroidogenesis most commonly identified on newborn screenings. We describe a young woman who presented with abdominal pain and on subsequent imaging was found to have features of congenital adrenal hyperplasia. Imaging findings, treatment, and potential complications are discussed.

  11. Surgical management of Cushing Syndrome secondary to micronodular adrenal hyperplasia

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    Powell, Anathea C.; Stratakis, Constantine A.; Patronas, Nicholas J.; Steinberg, Seth M.; Batista, Dalia; Alexander, H. Richard; Pingpank, James F.; Keil, Meg; Bartlett, David L.; Libutti, Steven K.

    2008-01-01

    Background We reviewed our experience with micronodular adrenal hyperplasia (MAH), its pigmented variant primary pigmented nodular adrenocortical disease (PPNAD), and the association with Carney’s Complex (CNC) in order to better characterize the disorders. Methods This study is a retrospective analysis of clinical data and operative reports of 34 patients identified with MAH and/or PPNAD who underwent resection between 1969 and 2006 at the Clinical Research Center, an inpatient research hospital, at the National Institutes of Health. Symptoms and anthropometric and biochemical data were used to evaluate effect of resection. Results Fifteen patients (44%) presented as adults and 19 (56%) as children. Twenty five patients (74%) presented with non-cyclic Cushing syndrome and nine patients (26%) presented with cyclic Cushing Syndrome. Thirty one patients underwent bilateral resection; this was curative biochemically in 30 patients. Fourteen operations were performed laparoscopically (41%), and 20 were perfomed as open resections (59%). There was one post-operative complication in the laparoscopic group (7%) and 6 complications in the open group (30%) (p=0.20). Follow-up was available for 25 patients (74%). Statistically significant improvements in anthropometrics were observed for both adults and children. The most frequent manifestation of CNC requiring additional operation was cardiac myxoma which was associated strongly with an atypical (cyclic) presentation of Cushing Syndrome (p=0.009). Conclusion Cushing Syndrome due to MAH and PPNAD may be cured by bilateral adrenal resection. All patients should be screened for manifestations of CNC at the time of adrenal diagnosis with particular attention to cardiac disease. PMID:18549891

  12. Noninvasive Prenatal Diagnosis of Congenital Adrenal Hyperplasia.

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    Khattab, Ahmed; Yuen, Tony; Sun, Li; Yau, Mabel; Barhan, Ariella; Zaidi, Mone; Lo, Y M Dennis; New, Maria I

    2016-01-01

    A major hallmark of classical congenital adrenal hyperplasia (CAH) is genital ambiguity noted at birth in affected females, which leads to psychological and psychosexual issues in adult life. Attempts to correct genital ambiguity through surgical intervention have been partially successful. Fetal hyperandrogenemia and genital ambiguity have been shown to be preventable by prenatal administration of low-dose dexamethasone initiated before the 9th week of gestation. In 7 of 8 at-risk pregnancies, the unaffected fetus is unnecessarily exposed to dexamethasone for weeks until the diagnosis of classical CAH is ruled out by invasive procedures. This therapeutic dilemma calls for early prenatal diagnosis so that dexamethasone treatment can be directed to affected female fetuses only. We describe the utilization of cell-free fetal DNA in mothers carrying at-risk fetuses as early as 6 gestational weeks by targeted massively parallel sequencing of the genomic region including and flanking the CYP21A2 gene. Our highly personalized and innovative approach should permit the diagnosis of CAH before genital development begins, therefore restricting the purposeful administration of dexamethasone to mothers carrying affected females. © 2016 S. Karger AG, Basel.

  13. Nonclassical Congenital Adrenal Hyperplasia and Pregnancy

    Directory of Open Access Journals (Sweden)

    Neslihan Cuhaci

    2015-01-01

    Full Text Available Objective. The most common form of congenital adrenal hyperplasia (CAH is 21-hydroxylase (21-OH deficiency due to mutation of the CYP21A2 gene. Patients with nonclassical CAH (NC-CAH are usually asymptomatic at birth and typically present in late childhood, adolescence, or adulthood with symptoms of excessive androgen secretion. Subfertility is relative in NC-CAH, but the incidence of spontaneous miscarriage is higher. Here, we report a previously undiagnosed female who gave birth to a normal male child and is planning to become pregnant again. Case Report. A 32-year-old female was referred to our clinic for obesity. Her medical history revealed that she had had three pregnancies. She was planning to become pregnant again. Her laboratory results revealed that she had NC-CAH. Since her husband is the son of her aunt and she had miscarriages and intrauterin exitus in her history, their genetic analyses were performed. Conclusion. Since most patients with NC-CAH have a severe mutation, these patients may give birth to a child with the classical CAH (C-CAH if their partner is also carrying a severe mutation. Females with NC-CAH who desire pregnancy must be aware of the risk of having an infant with C-CAH.

  14. Testicular adrenal rest tumor in infertile man with congenital adrenal hyperplasia: case report and literature review

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    Giovanni Scala Marchini

    Full Text Available CONTEXT: Synthesis of cortisol and aldosterone is impaired in patients with congenital adrenal hyperplasia (CAH because of 21-hydroxylase deficiency. Men with CAH have low fertility rates compared with the normal population, and this is related to testicular adrenal rest tumors. Findings of azoospermia in combination with a testicular tumor on ultrasound are likely to have a mechanical cause, especially when in the testicular mediastinum. The preferred treatment method consists of intensive corticoid therapy. However, when the tumor is unresponsive to steroid therapy, surgical treatment should be considered. CASE REPORT: We present the case of a male patient with CAH due to 21-hydroxylase deficiency who presented a testicular tumor and azoospermia. Treatment with low daily corticoid doses had previously been started by an endocrinologist, but after 12 months, no significant change in sperm count was found. Although the adrenocorticotrophic hormone and 17-hydroxyprogesterone levels returned to normal values, the follicle-stimulating hormone (FSH, luteinizing hormone and testosterone levels remained unchanged. Ultrasound examination confirmed that the testicles were small and heterogenous bilaterally, and revealed a mosaic area at the projection of the testis network bilaterally. Magnetic resonance imaging confirmed the finding. Testicular biopsy revealed the presence of preserved spermatogenesis and spermiogenesis in 20% of the seminiferous tubules in the right testicle. The patient underwent testis-sparing tumor resection. After 12 months of follow-up, there was no tumor recurrence but the patient still presented azoospermia and joined an intracytoplasmic sperm injection program.

  15. Bilateral adrenal hemorrhage in polycythemia vera

    Directory of Open Access Journals (Sweden)

    Shruti Bhandari

    2016-09-01

    Full Text Available Bilateral adrenal hemorrhage (BAH is a rare complication typically seen in critically ill patients, which can lead to acute adrenal insufficiency and death unless it is recognized promptly and treated appropriately. We describe the case of a 64-year-old man with polycythemia vera found to be unresponsive with fever, hypotension, tachycardia, and hypoglycemia. Electrocardiogram showed ST-elevation with elevated troponin, hemoglobin, prothrombin time, and partial thromboplastin time. He required aggressive ventilator and vasopressor support. Despite primary coronary intervention, he remained hypotensive. Random cortisol level was low. He received stress dose hydrocortisone with immediate hemodynamic stability. BAH was highly suspected and was confirmed by non-contrast abdominal computed tomography. Prompt recognition and timely initiated treatment remain crucial to impact the mortality associated with acute adrenal insufficiency.

  16. Aberrant expression of glucagon receptors in adrenal glands of a patient with Cushing's syndrome and ACTH-independent macronodular adrenal hyperplasia

    Directory of Open Access Journals (Sweden)

    Valeria de Miguel

    2010-06-01

    Full Text Available Adrenocorticotropin (ACTH independent bilateral macronodular adrenal hyperplasia (AIMAH is a rare cause of Cushing´s syndrome, characterized by bilateral adrenal lesions and excess cortisol production despite ACTH suppression. Cortisol synthesis is produced in response to abnormal activation of G-protein- coupled receptors, such as gastric inhibitory peptide, vasopressin, beta adrenergic agonists, LH/hCG and serotonin receptors. The aim of this study was to analyze the expression of glucagon receptors in adrenal glands from an AIMAH patient. A patient with ACTH-independent Cushing´s syndrome and bilateral macronodular adrenal hyperplasia was screened for altered activation of adrenal receptors by physiological (mixed meal and pharmacological (gonadotrophin releasing hormone, ACTH and glucagon tests. The results showed abnormally high levels of serum cortisol after stimulation with glucagon. Hypercortisolism was successfully managed with ketoconazole treatment. Interestingly, a 4-month treatment with a somatostatin analogue (octreotide was also able to reduce cortisol secretion. Finally, Cushing's syndrome was cured after bilateral adrenalectomy. Abnormal mRNA expression for glucagon receptor in the patient´s adrenal glands was observed by Real-Time PCR procedure. These results strongly suggest that the mechanism of AIMAH causing Cushing´s syndrome in this case involves the illicit activation of adrenal glucagon receptors. This is the first case reported of AIMAH associated with ectopic glucagon receptors.

  17. Bilateral adrenal hemorrhage and primary antiphospholipid antibody syndrome

    International Nuclear Information System (INIS)

    Garcia de Iturrospe, C.; Quilez, I.J.; Echevarria, J.J.

    1996-01-01

    Bilateral adrenal hemorrhage is an uncommon entity that is difficult to diagnose given the ambiquity of the clinical signs. Computerized tomography plays a major role in the diagnosis, disclosing enlarged adrenal glands presenting the hyperdense aspect that characterizes this disorders. We present a case of bilateral adrenal hemoorrhage in a patient diagnosed as having primary antiphospholipid antibody syndrome, which is a less common cause of adrenal hemorrhage than those classically reported, such as anticoagulant therapy, sepsis, shock and abdominal injury. (Author) 8 refs

  18. Unilateral testicular tumour associated to congenital adrenal hyperplasia: Failure of specific tumoral molecular markers to discriminate between adrenal rest and leydigioma.

    Science.gov (United States)

    Fenichel, P; Bstandig, B; Roger, C; Chevallier, D; Michels, J-F; Sadoul, J-L; Hieronimus, S; Brucker-Davis, F

    2008-11-01

    Testicular adrenal rest tumours are frequently associated with congenital adrenal hyperplasia (CAH). These ACTH-dependent tumours cannot be easily distinguished histologically from Leydig-cell tumours. We report the case of a 30-year-old man who was explored for infertility, azoospermia and unilateral testicular tumour. High levels of 17-OH progesterone and ACTH, low cortisol and undetectable gonadotropins levels, associated to bilateral adrenal hyperplasia, led to the diagnosis of CAH by 21-OH deficiency with a composite heterozygoty. The testicular tumour was first considered as adrenal rest. However, histological analysis of this unilateral painful tumour showed a steroid-hormone-secreting cell proliferation with atypical and frequent mitosis. To discriminate between a benign adrenal rest tumour and a possible malignant leydigioma, tumoral expression of specific gene products was analyzed by RT-PCR. No 11-beta-hydroxylase nor ACTH receptor mRNAs could be found in the tumour, which did not behave like usual adrenal rest cells. For this unilateral testicular tumour, the lack of adrenal-specific markers associated with a high rate of mitosis and pleiomorphism supported a leydigian origin with malignant potential. However, lack of tumoral LH-R mRNA expression and a tumour-free 3-year follow-up led us to retain the diagnosis of adrenal rest tumour with loss of adrenal gene expression and progressive autonomous behaviour.

  19. The role of imaging in congenital adrenal hyperplasia

    International Nuclear Information System (INIS)

    Teixeira, Sara Reis; Andrade, Marco Tulio Soares; Melo, Andrea Farias; Elias Junior, Jorge; Elias, Paula Condé Lamparelli

    2014-01-01

    Congenital adrenal hyperplasia (CAH) is an autossomic recessive disorder caused by impaired steroidogenesis. Patients with CAH may present adrenal insufficiency with or without salt-wasting, as well as various degrees of virilization and fertility impairment, carrying a high incidence of testicular adrenal rest tumors and increased incidence of adrenal tumors. The diagnosis of CAH is made based on the adrenocortical profile hormonal evaluation and genotyping, in selected cases. Follow-up is mainly based on hormonal and clinical evaluation. Utility of imaging in this clinical setting may be helpful for the diagnosis, management, and follow-up of the patients, although recommendations according to most guidelines are weak when present. Thus, the authors aimed to conduct a narrative synthesis of how imaging can help in the management of patients with CAH, especially focused on genitography, ultrasonography, computed tomography, and magnetic resonance imaging. (author)

  20. The role of imaging in congenital adrenal hyperplasia

    Energy Technology Data Exchange (ETDEWEB)

    Teixeira, Sara Reis; Andrade, Marco Tulio Soares; Melo, Andrea Farias; Elias Junior, Jorge, E-mail: jejunior@fmrp.usp.br [Department of Internal Medicine, Division of Radiology, Clinical Hospital, Ribeirao Preto Medical School, University of Sao Paulo (FMRP-USP), Ribeirao Preto, SP (Brazil); Elias, Paula Condé Lamparelli [Department of Internal Medicine, Division of Endocrinology, Clinical Hospital, FMRP-USP, Ribeirao Preto, SP (Brazil)

    2014-10-15

    Congenital adrenal hyperplasia (CAH) is an autossomic recessive disorder caused by impaired steroidogenesis. Patients with CAH may present adrenal insufficiency with or without salt-wasting, as well as various degrees of virilization and fertility impairment, carrying a high incidence of testicular adrenal rest tumors and increased incidence of adrenal tumors. The diagnosis of CAH is made based on the adrenocortical profile hormonal evaluation and genotyping, in selected cases. Follow-up is mainly based on hormonal and clinical evaluation. Utility of imaging in this clinical setting may be helpful for the diagnosis, management, and follow-up of the patients, although recommendations according to most guidelines are weak when present. Thus, the authors aimed to conduct a narrative synthesis of how imaging can help in the management of patients with CAH, especially focused on genitography, ultrasonography, computed tomography, and magnetic resonance imaging. (author)

  1. Ultrasound follow up of testicular adrenal rest tumors with congenital adrenal hyperplasia: Report of three cases

    Energy Technology Data Exchange (ETDEWEB)

    Cho, Jeong Yeon; Kim, Dong Won; Yoon, Seong Kuk; Nam, Kyung Jin [Dept. of Radiology, Dong-A University Hospital, Busan (Korea, Republic of)

    2014-12-15

    While testicular adrenal rest tumor is generally a rare intratesticular tumor, it is frequent in patients with congenital adrenal hyperplasia. The tumors are diagnosed and followed up by ultrasound examination because these tumors are non-palpable and symptomless in most cases and always benign. Ultrasound imaging features change depending on how congenital adrenal hyperplasia is controlled. We herein report three cases of testicular adrenal rest tumors with different usual and unusual imaging findings and follow-up imaging. Patient 1 was a 14-year-old boy who presented with poor compliance to medication. Patient 2 and 3 were a 10-year-old and 13-year-old boy who presented with precocious puberty and short stature, respectively. Ultrasound examinations demonstrated oval hypoechoic masses and irregular speculated hyperechoic masses in the testes and different serial imaging findings.

  2. Ultrasound follow up of testicular adrenal rest tumors with congenital adrenal hyperplasia: Report of three cases

    International Nuclear Information System (INIS)

    Cho, Jeong Yeon; Kim, Dong Won; Yoon, Seong Kuk; Nam, Kyung Jin

    2014-01-01

    While testicular adrenal rest tumor is generally a rare intratesticular tumor, it is frequent in patients with congenital adrenal hyperplasia. The tumors are diagnosed and followed up by ultrasound examination because these tumors are non-palpable and symptomless in most cases and always benign. Ultrasound imaging features change depending on how congenital adrenal hyperplasia is controlled. We herein report three cases of testicular adrenal rest tumors with different usual and unusual imaging findings and follow-up imaging. Patient 1 was a 14-year-old boy who presented with poor compliance to medication. Patient 2 and 3 were a 10-year-old and 13-year-old boy who presented with precocious puberty and short stature, respectively. Ultrasound examinations demonstrated oval hypoechoic masses and irregular speculated hyperechoic masses in the testes and different serial imaging findings

  3. Clinical, chromosomal and endocrine studies for congenital adrenal hyperplasia

    International Nuclear Information System (INIS)

    Soliman, S.E.; Shousha, M.; Hafez, M.

    2006-01-01

    Severe forms of congenital adrenal hyperplasia are potentially fatal if unrecognized and untreated. The aim of this study was to clarify the clinical presentation together with the chromosomal and laboratory associations in this syndrome. Twenty four patients diagnosed as congenital adrenal hyperplasia were referred from Children's Hospital, Cairo University, Egypt, for hormonal and chromosomal workup. The age ranged from eight months to 19 years with mean age of 3.18 years. Twenty two patients were diagnosed as classic congenital adrenal hyperplasia (CAH) syndrome. Severe salt wasting form was present in ten patients whereas simple virilisation was the presenting manifestation in twelve patients. Two patients presented as late onset congenital adrenal hyperplasia (LOCAH). The sex of rearing was female in 18 cases and male in six cases. Genitography and sonography confirmed the presence of female internal organs in all cases. Advanced bone age was evident by radiographic studies. Although the karyotyping was 46,XX in all cases, the diagnosed correct sex was delayed in six cases. Serum concentrations of 17-hydroxyprogesterone (17.OH.P), dehydroepiandrosterone sulfate (DHEAS), delta, 4-androstenedione (D4A), testosterone (T) and 11-deoxycortisol were all elevated as compared to controls. It was found that the adrenal androgens DHEAS, D4A and T were more elevated in salt losers when compared to simple virilising patients. However, this difference was statistically non-significant. The present study demonstrates that the clinical examination and laboratory investigations are necessary for the early detection and treatment of these cases to avoid major medical and psychological problems for the patients and their parents

  4. Clinical, Chromosomal and Endocrine Studies for Congenital Adrenal Hyperplasia

    International Nuclear Information System (INIS)

    Shousha, M.A.; Somaya, E.T.; Attia, M.

    2007-01-01

    Several forms of congenital adrenal hyperplasia are potentially fatal if unrecognized and untreated. The aim of this study is to throw light on the clinical presentation together with chromosomal and laboratory associations in this syndrome. Twenty four patients diagnosed as congenital adrenal hyperplasia were referred from the Diabetic Endocrine Metabolic Pediatric Unit [DEMPU], Children's Hospital, Cairo University for hormonal and chromosomal workup. Twenty two patients were diagnosed as classic congenital adrenal hyperplasia (CAH) syndrome. Sever salt wasting form was present in ten patients whereas simple virilization was the presenting manifestation in twelve patients. Two patients presented as late onset congenital adrenal hyperplasia (LOCAH). The mean age was 3.18 years, ranging from eight months to 19 years. The sex of rearing was Female in 18 cases and male in six cases. Genitography and sonography confirmed the presence of female internal organs in all cases. Advanced bone age was evident by radiographic studies. Although the karyotyping was (46,XX) in all cases, the correct sex diagnosis was delayed in 6 cases. Serum concentrations of 17-hydroxyprogesterone (17.OH.P); Dehydroepiandrosterone sulfate (DHEAS); Delta,4-androstenedione (D 4 A); Testosterone and 11-deoxycortisol were all elevated in relation to controls. We found that the adrenal androgens DHEAS, delta 4A, and T were more elevated in salt losers when compared to simple virilizing patients. However, this difference was not of statistical significance. The present study demonstrates that clinical examination and laboratory investigations are necessary for early detection and treatment of hese cases to avoid major medical and psychological problems for the patients and their parents.

  5. Diagnosis of adrenal adenoma and hyperplasia by CT and adrenal scintigraphy

    International Nuclear Information System (INIS)

    Miura, Kentaro; Itami, Jun; Nawano, Shigeru; Okada, Junichi; Ogino, Takashi; Uno, Koichi; Arimizu, Noboru

    1985-01-01

    The evaluation of X-CT and adrenal scintigraphy in diagnosis of Cushing syndrome and primary aldosteronism was studied in 18 patients. In Cushing syndrome, CT appearance of adenoma is commonly larger than that of primary aldosteronism and cleary deliniated by surrounding fat. So, in Cushing syndrome, diagnosis of adenoma on CT is much easier than that of primary aldosteronism, and absence of adenoma on CT suggests adrenal hyperplasia. In primary aldosteronism both of CT and scintigraphy must be performed. (author)

  6. Adrenal failure due to bilateral adrenal metastasis of rectal cancer: A case report.

    Science.gov (United States)

    Imaoka, Yuki; Kuranishi, Fumito; Ogawa, Yoshiteru; Okuda, Hiroshi; Nakahara, Masahiro

    2017-01-01

    It is rare for a patient to present with adrenal insufficiency secondary to bilateral adrenal metastases from a malignant colorectal tumor. An 82-year-old Japanese man presented to our hospital with high fever and malaise. He was receiving oral chemotherapy for the treatment of rectal cancer with multiple metastases. Computed tomography showed new bilateral adrenal gland metastases. A rapid adrenocorticotropic hormone (ACTH) test showed adrenal insufficiency. Treatment with hydrocortisone provided immediate symptom improvement. Adrenal insufficiency secondary to bilateral adrenal metastases from rectal cancer is rare. A rapid ACTH test is useful to diagnose adrenal insufficiency. The incidence of adrenal insufficiency may be underestimated in patients with multiple metastasis. Appropriate therapy with adrenal corticosteroid hormone supplementation may lead to a significant improvement in the patient's symptoms and quality of life. Copyright © 2016 The Author(s). Published by Elsevier Ltd.. All rights reserved.

  7. Severe bilateral adrenal hemorrhages in a newborn complicated by persistent adrenal insufficiency

    OpenAIRE

    Zessis, Nicholas R; Nicholas, Jennifer L; Stone, Stephen I

    2018-01-01

    Summary Bilateral adrenal hemorrhages rarely occur during the neonatal period and are often associated with traumatic vaginal deliveries. However, the adrenal gland has highly regenerative capabilities and adrenal insufficiency typically resolves over time. We evaluated a newborn female after experiencing fetal macrosomia and a traumatic vaginal delivery. She developed acidosis and acute renal injury. Large adrenal hemorrhages were noted bilaterally on ultrasound, and she was diagnosed with a...

  8. Congenital adrenal hyperplasia with localized aggressive periodontitis and amelogenesis imperfecta.

    Science.gov (United States)

    Ajlan, Sumaiah Abdulbaqi

    2015-11-01

    Congenital adrenal hyperplasia (CAH) is an inherited medical condition that implies defects in steroid biosynthesis. The dental findings of a female patient with CAH are reported. The patient suffered from severe periodontal tissue destruction, obvious enamel defects, as well as some occlusal problems. The management approach is presented and the possibility of interrelation of her dental findings with her medical condition is discussed. © 2015 Japanese Teratology Society.

  9. Diagnosis and management of classical congenital adrenal hyperplasia.

    Science.gov (United States)

    Marumudi, Eunice; Khadgawat, Rajesh; Surana, Vineet; Shabir, Iram; Joseph, Angela; Ammini, Ariachery C

    2013-08-01

    Congenital adrenal hyperplasia (CAH) is among the most common genetic disorders. Deficiency of adrenal steroid 21-hydroxylase deficiency due to mutations in the CYP21A2 gene accounts for about 95% cases of CAH. This disorder manifests with androgen excess with or without salt wasting. It also is a potentially life threatening disorder; neonatal screening with 17-hydroxyprogesterone measurement can diagnose the condition in asymptomatic children. Carefully monitored therapy with glucocorticoid and mineralocorticoid supplementation will ensure optimal growth and development for children with CAH. Genital surgery may be required for girls with CAH. Continued care is required for individuals with CAH as adults to prevent long-term adverse consequences of the disease, including infertility, metabolic syndrome and osteoporosis. Copyright © 2013 Elsevier Inc. All rights reserved.

  10. Severe bilateral adrenal hemorrhages in  a  newborn complicated by persistent adrenal insufficiency

    Directory of Open Access Journals (Sweden)

    Nicholas R Zessis

    2018-02-01

    Full Text Available Bilateral adrenal hemorrhages rarely occur during the neonatal period and are often associated with traumatic vaginal deliveries. However, the adrenal gland has highly regenerative capabilities and adrenal insufficiency typically resolves over time. We evaluated a newborn female after experiencing fetal macrosomia and a traumatic vaginal delivery. She developed acidosis and acute renal injury. Large adrenal hemorrhages were noted bilaterally on ultrasound, and she was diagnosed with adrenal insufficiency based on characteristic electrolyte changes and a low cortisol (4.2 μg/dL. On follow-up testing, this patient was unable to be weaned off of hydrocortisone or fludrocortisone despite resolution of hemorrhages on ultrasound. Providers should consider bilateral adrenal hemorrhage when evaluating critically ill neonates after a traumatic delivery. In extreme cases, this may be a persistent process.

  11. Modeling Congenital Adrenal Hyperplasia and Testing Interventions for Adrenal Insufficiency Using Donor-Specific Reprogrammed Cells

    Directory of Open Access Journals (Sweden)

    Gerard Ruiz-Babot

    2018-01-01

    Full Text Available Adrenal insufficiency is managed by hormone replacement therapy, which is far from optimal; the ability to generate functional steroidogenic cells would offer a unique opportunity for a curative approach to restoring the complex feedback regulation of the hypothalamic-pituitary-adrenal axis. Here, we generated human induced steroidogenic cells (hiSCs from fibroblasts, blood-, and urine-derived cells through forced expression of steroidogenic factor-1 and activation of the PKA and LHRH pathways. hiSCs had ultrastructural features resembling steroid-secreting cells, expressed steroidogenic enzymes, and secreted steroid hormones in response to stimuli. hiSCs were viable when transplanted into the mouse kidney capsule and intra-adrenal. Importantly, the hypocortisolism of hiSCs derived from patients with adrenal insufficiency due to congenital adrenal hyperplasia was rescued by expressing the wild-type version of the defective disease-causing enzymes. Our study provides an effective tool with many potential applications for studying adrenal pathobiology in a personalized manner and opens venues for the development of precision therapies.

  12. Modeling Congenital Adrenal Hyperplasia and Testing Interventions for Adrenal Insufficiency Using Donor-Specific Reprogrammed Cells.

    Science.gov (United States)

    Ruiz-Babot, Gerard; Balyura, Mariya; Hadjidemetriou, Irene; Ajodha, Sharon J; Taylor, David R; Ghataore, Lea; Taylor, Norman F; Schubert, Undine; Ziegler, Christian G; Storr, Helen L; Druce, Maralyn R; Gevers, Evelien F; Drake, William M; Srirangalingam, Umasuthan; Conway, Gerard S; King, Peter J; Metherell, Louise A; Bornstein, Stefan R; Guasti, Leonardo

    2018-01-30

    Adrenal insufficiency is managed by hormone replacement therapy, which is far from optimal; the ability to generate functional steroidogenic cells would offer a unique opportunity for a curative approach to restoring the complex feedback regulation of the hypothalamic-pituitary-adrenal axis. Here, we generated human induced steroidogenic cells (hiSCs) from fibroblasts, blood-, and urine-derived cells through forced expression of steroidogenic factor-1 and activation of the PKA and LHRH pathways. hiSCs had ultrastructural features resembling steroid-secreting cells, expressed steroidogenic enzymes, and secreted steroid hormones in response to stimuli. hiSCs were viable when transplanted into the mouse kidney capsule and intra-adrenal. Importantly, the hypocortisolism of hiSCs derived from patients with adrenal insufficiency due to congenital adrenal hyperplasia was rescued by expressing the wild-type version of the defective disease-causing enzymes. Our study provides an effective tool with many potential applications for studying adrenal pathobiology in a personalized manner and opens venues for the development of precision therapies. Copyright © 2018 The Authors. Published by Elsevier Inc. All rights reserved.

  13. A case of hirsutism due to bilateral diffuse ovarian Leydig cell hyperplasia in a post-menopausal woman.

    Science.gov (United States)

    Ali, F S.M.; Stanaway, S E.R.S.; Zakhour, H D.; Spearing, G; Bowen-Jones, D

    2003-11-01

    Hyperandrogenism in females usually results from ovarian or adrenal pathology. We present a case of virilizaton due to very rare bilateral ovarian diffuse interstitial proliferation of Leydig cells with no tumour or hilar cell hyperplasia identified. Interestingly, the case was further complicated by the finding of high levels of testosterone in one adrenal vein on selective venous sampling (SVS), resulting in an unnecessary unilateral adrenalectomy. Further sampling found high levels also in the ovarian veins, and the condition was finally cured by bilateral oophorectomy.

  14. Ectopic adrenal rests in congenital adrenal hyperplasia as a cause of androgen excess after adrenalectomy detected by pelvic venous sampling.

    NARCIS (Netherlands)

    Claahsen-van der Grinten, H.L.; Stikkelbroeck, M.M.L.; Bulten, J.; Heyer, M. den

    2013-01-01

    BACKGROUND: Patients with classic congenital adrenal hyperplasia (CAH) due to CYP21 deficiency are treated with supraphysiological doses of glucocorticoids to suppress elevated androgen production. This implies also side effects of high-dose glucocorticoids, possibly leading to iatrogenic Cushing's

  15. A case of adrenal Cushing’s syndrome with bilateral adrenal masses

    Directory of Open Access Journals (Sweden)

    Ya-Wun Guo

    2016-05-01

    Full Text Available A functional lesion in corticotrophin (ACTH-independent Cushing’s syndrome is difficult to distinguish from lesions of bilateral adrenal masses. Methods for distinguishing these lesions include adrenal venous sampling and 131I-6β-iodomethyl-19-norcholesterol (131I-NP-59 scintigraphy. We present a case of a 29-year-old Han Chinese female patient with a history of hypercholesterolaemia and polycystic ovary syndrome. She presented with a 6month history of an 8kg body weight gain and gradual rounding of the face. Serial examinations revealed loss of circadian rhythm of cortisol, elevated urinary free-cortisol level and undetectable ACTH level (<5pg/mL. No suppression was observed in both the low- and high-dose dexamethasone suppression tests. Adrenal computed tomography revealed bilateral adrenal masses. Adrenal venous sampling was performed, and the right-to-left lateralisation ratio was 14.29. The finding from adrenal scintigraphy with NP-59 was consistent with right adrenal adenoma. The patient underwent laparoscopic right adrenalectomy, and the pathology report showed adrenocortical adenoma. Her postoperative cortisol level was 3.2μg/dL, and her Cushingoid appearance improved. In sum, both adrenal venous sampling and 131I-NP-59 scintigraphy are good diagnostic methods for Cushing’s syndrome presenting with bilateral adrenal masses.

  16. Bilateral primary adrenal lymphoma presenting with adrenal insufficiency

    DEFF Research Database (Denmark)

    Holm, Jakob; Breum, Leif; Stenfeldt, Katrine

    2012-01-01

    surgery was performed. A new computerized tomography scan showed rapid progression of disease with further enlargement of the adrenal masses and both pulmonary and hepatic metastasis. Needle biopsy was performed but the patient refused further treatment and died before a diagnosis was obtained...

  17. The Role of gsp Mutations on the Development of Adrenal Cortical Tumors and Adrenal Hyperplasias

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    Maria Candida Barisson Villares Fragoso

    2016-07-01

    Full Text Available Somatic GNAS point mutations, commonly known as gsp mutations, are involved in the pathogenesis of McCune Albright syndrome and have also been described in autonomous hormone-producing tumors, such as somatotropinoma, corticotrophoma, thyroid cancer, ovarian and testicular Leydig cell tumors and primary macronodular adrenocortical hyperplasia (PMAH. [1-3]The involvement of gsp mutations in adrenal tumors was first described by Lyons et al. in 1990. Since then, several studies have detected the presence of gsp mutations in adrenal tumors, but none of them could explain its presence along or the mechanism that leads to tumor formation and hormone hypersecretion. As a result, the molecular pathogenesis of the majority of sporadic adrenocortical tumors remains unclear. [3] PMAH has also been reported with gsp somatic mutations in a few cases. Fragoso et al. in 2003 identified two distinct gsp somatic mutations affecting arginine residues on codon 201 of GNAS in a few patients with PMAH who lacked any features or manifestations of McCune Albright syndrome. Followed by this discovery, other studies have continued looking for gsp mutations based on strong prior evidence demonstrating that increased cAMP signaling is sufficient for cell proliferation and cortisol production. [2, 4] With consideration for the previously reported findings, we conjecture that although somatic activating mutations in GNAS are a rare molecular event, these mutations could probably be sufficient to induce the development of macronodule hyperplasia and variable cortisol secretion.In this manuscript, we revised the presence of gsp mutations associated with adrenal cortical tumors and hyperplasia.

  18. Parental management of adrenal crisis in children with congenital adrenal hyperplasia.

    Science.gov (United States)

    Fleming, Louise; Knafl, Kathleen; Knafl, George; Van Riper, Marcia

    2017-10-01

    Congenital adrenal hyperplasia (CAH) requires parents to inject their child with hydrocortisone intramuscularly during times of illness and adrenal crisis. The purpose of this study was to describe circumstances surrounding adrenal crisis events in children with CAH; to explore parents' perceptions of the consequences of having a child with a life-threatening condition; and to examine a relationship between parents' perceived management ability and the impact CAH has on the family. In Phase 1 of this mixed-methods, cross-sectional study, 77 parents were asked to complete questionnaires comprising measures of family life in the context of childhood illness. Descriptive statistics were computed with four separate analyses using linear mixed models allowing for correlation between responses from parents of the same family and for the variance to be different for fathers and mothers. The following relationships were examined: (1) parental management ability and type of provider instruction on how to manage adrenal crises; (2) parental management ability and child age; (3) the perceived impact of the condition on the family and management ability; and (4) the age of the child and number of adrenal crisis events. In Phase 2, 16 semi-structured interviews were conducted to elicit detailed descriptions of parents' experiences in managing crises. There was a significant, positive relationship between detailed provider instruction to parents on adrenal crisis management and perceived management ability (p = .02), additionally the stronger the perceived management ability, the less impact CAH had on the family (p crisis events and less perceived ability to manage the condition when compared with parents of older children (p = .009). The threat of an adrenal crisis event is a pervasive concern for parents, especially when they are not being properly prepared by providers. Provider support is needed for these parents throughout childhood, but especially in the first 5 years of

  19. Normalization of Bilateral Adrenal Gland Enlargement after Treatment for Cryptococcosis

    Directory of Open Access Journals (Sweden)

    Yuka Muraoka

    2017-01-01

    Full Text Available Cryptococcosis usually occurs in immunocompromised patients and can cause enlargement of the adrenal glands, although the morphologic changes after treatment have not been reported in detail. We report the case of 24-year-old man with fevers, headaches, and impaired consciousness who had been treated with glucocorticoids for a protein-losing gastroenteropathy. The cerebrospinal fluid analysis revealed cryptococcal meningitis. Computed tomography showed bilateral adrenal enlargement. A retrospective analysis revealed that the enlargement had been detected 5 months before admission and gradually increased. The enlargement was improved with antifungal therapy and normalized 6 months later. This is the first report describing morphological changes in the adrenal glands associated with cryptococcal meningitis. Adrenal enlargement by cryptococcosis can be improved without any abnormal findings, including calcifications, which may be a unique characteristic from other diseases, including tuberculosis.

  20. Magnetic Resonance Imaging of the Vocal Folds in Women with Congenital Adrenal Hyperplasia and Virilized Voices

    Science.gov (United States)

    Nygren, Ulrika; Isberg, Bengt; Arver, Stefan; Hertegård, Stellan; Södersten, Maria; Nordenskjöld, Agneta

    2016-01-01

    Purpose: Women with congenital adrenal hyperplasia (CAH) may develop a virilized voice due to late diagnosis or suboptimal suppression of adrenal androgens. Changes in the vocal folds due to virilization have not been studied in vivo. The purpose was to investigate if the thyroarytenoid (TA) muscle is affected by virilization and correlate…

  1. Nonclassic congenital adrenal hyperplasia misdiagnosed as Turner syndrome

    Directory of Open Access Journals (Sweden)

    Vineet V Mishra

    2015-01-01

    Full Text Available We present a patient with nonclassic congenital adrenal hyperplasia (NCAH misdiagnosed as mosaic Turner syndrome. She presented with complaints of primary infertility. Short stature, the presence of facial hair and hoarse voice was also noted. She had primary amenorrhea and was advised for karyotype at 16 years of age, which was reported as 45, X[20]/46, XX[80], stating her as a case of mosaic Turner syndrome. Clitoroplasty was done at 21 years of age for clitoromegaly, which was noticed during puberty. The diagnosis of mosaic Turner could not explain the virilization. Therefore, we repeated the karyotype, which revealed 46, XX in more than 100 metaphases and was sufficient to exclude mosaicism. Furthermore, the endocrinological evaluation revealed high testosterone level with a normal 17 alpha-hydroxyprogesterone (17-OHP. The presence of pubertal onset virilization with a karyotype of 46, XX and raised testosterone level with normal 17-OHP level, raised the suspicion of NCAH for which adrenocorticotropic hormone stimulation test was done which confirmed the diagnosis of NCAH.

  2. Congenital Adrenal Hyperplasia: Classification of Studies Employing Psychological Endpoints

    Directory of Open Access Journals (Sweden)

    Sandberg DavidE

    2010-08-01

    Full Text Available Psychological outcomes in persons with congenital adrenal hyperplasia (CAH have received substantial attention. The objectives of this paper were to (1 catalog psychological endpoints assessed in CAH outcome studies and (2 classify the conceptual/theoretical model shaping the research design and interpretation of CAH-related psychological effects. A total of 98 original research studies, published between 1955 and 2009, were categorized based on psychological endpoints examined as well as the research design and conceptual model guiding analysis and interpretation of data. The majority of studies (68% investigated endpoints related to psychosexual differentiation. The preponderance of studies (76% examined a direct relationship (i.e., inferring causality between prenatal androgen exposure and psychological outcomes. Findings are discussed in relation to the observed imbalance between theoretical interest in the role of prenatal androgens in shaping psychosexual differentiation and a broader conceptual model that examines the role of other potential factors in mediating or moderating the influence of CAH pathophysiology on psychological outcomes in both affected females and males. The latter approach offers to identify factors amenable to clinical intervention that enhance both health and quality of life outcomes in CAH as well as other disorders of sex development.

  3. Growth and development in children with classic congenital adrenal hyperplasia.

    Science.gov (United States)

    Bonfig, Walter

    2017-02-01

    Final height outcome in classic congenital adrenal hyperplasia (CAH) has been of interest for many years. With analysis of growth patterns and used glucocorticoid regimens, enhanced treatment strategies have been developed and are still under development. Most of the current reports on final height outcome are confirmative of previous results. Final height data is still reported in cohorts that were diagnosed clinically and not by newborn screening. Clinical diagnosis of CAH leads to delayed diagnosis especially of simple virilizing CAH with significantly advanced bone age resulting in early pubertal development and reduced final height. In contrast salt-wasting CAH is diagnosed at an earlier stage in most cases resulting in better final height outcome in some cohorts. Nevertheless, final height outcome in patients with CAH treated with glucocorticoids is lower than the population norm and also at the lower end of genetic potential. Achievement of regular adult height is still a challenge with conventional glucocorticoid treatment in patients with CAH, which is why new hydrocortisone formulations and new treatment options for CAH are underway.

  4. Posterior retroperitoneoscopic adrenal surgery for clinical and subclinical Cushing's syndrome in patients with bilateral adrenal disease.

    Science.gov (United States)

    Lowery, Aoife J; Seeliger, Barbara; Alesina, Pier F; Walz, Martin K

    2017-08-01

    The treatment of hypercortisolism for patients with bilateral adrenal disease (BAD) is controversial. Bilateral total adrenalectomy results in permanent hypocortisolaemia requiring lifelong steroid replacement. A more conservative surgical approach, with less than bilateral total adrenalectomy (leaving functional adrenal tissue either unilaterally or bilaterally), represents an alternative option; however, long-term outcome or recurrence data are limited. We report our experience with the surgical management of hypercortisolism caused by BAD. Between 2004 and 2016, 42 patients (12 male, 30 female; mean age 58 ± 10 years) with clinical or subclinical Cushing's syndrome (CS/sCS) caused by BAD underwent adrenal surgery via the posterior retroperitoneoscopic approach. Adrenal surgery was defined as "adrenalectomy" when total gland excision was performed or "resection" when a partial or subtotal adrenal resection was performed. Clinical, radiological and biochemical parameters were evaluated preoperatively and postoperatively. Seventy adrenal operations performed in total included unilateral resection (n = 3), unilateral adrenalectomy (n = 15), bilateral resection (n = 9), adrenalectomy and contralateral resection (n = 14) and bilateral total adrenalectomy (n = 3). Median operating time was 47.5 min (30-150) with no difference between unilateral and bilateral (synchronous included) procedures (p = 0.15). Mortality was zero. Clavien-Dindo grade of postoperative complications was I (n = 5) and IV (n = 3). All but one patient with CS and 17/31 patients with sCS received postoperative steroid supplementation for a median duration of 20 (1.5-129) months. After median follow-up of 40 months (3-129), the remission rate was 92%; 11 patients required ongoing steroid supplementation. There were three biochemical recurrences (two underwent contralateral resection); two patients with new/progressive radiological nodularity are biochemically eucortisolaemic. A

  5. Gender Identity in Patients with Congenital Adrenal Hyperplasia.

    Science.gov (United States)

    Razzaghy-Azar, Maryam; Karimi, Sakineh; Shirazi, Elham

    2017-07-01

    Sex assignment in infancy for patients with disorder of sex development (DSD) is a challenging problem. Some of the patients with congenital adrenal hyperplasia (CAH) have DSD that may affect their gender identity. The study aimed to assess gender identity in patients with CAH. In this study, 52 patients with CAH, including 22 prepubertal children and 30 adolescents and adults, were assessed using two separate gender identity questionnaires for children and adults based on the criteria of diagnostic and statistical manual of mental disorders, 5th edition. In the children group, compatibility was seen between gender identity and rearing gender. In the adult group, there were three cases of mismatching between gender identity and sex assignment composed of two females with poor control and one male with good control with 21-hydroxylase deficiency (21-OHD). Three girls with 11-hydroxylase deficiency (11-OHD) were reared as boy. Two of them with late diagnosis at 5 and 6 years of age had pseudoprecocious puberty. Parents and children did not accept to change the gender. One of them is 36 years old now, is depressed and unsatisfied with her gender, another girl is still child and has male sexual identity. One girl with 11-OHD and early diagnosis at birth with Prader 5 virilization but with good hormonal control was changed to female gender at 12 years of age when female sexual characteristics appeared; she is 34-years-old now, married, and with two children, and she is satisfied with her gender. In patients with CAH, gender identity disorder is a rare finding. Hormonal control, social, familial, and religious beliefs have impacts on gender identity of these patients.

  6. Leydig Cell Tumor Associated with Testicular Adrenal Rest Tumors in a Patient with Congenital Adrenal Hyperplasia due to 11β-Hydroxylase Deficiency

    OpenAIRE

    Charfi, Nadia; Kamoun, Mahdi; Feki Mnif, Mouna; Mseddi, Neila; Mnif, Fatma; Kallel, Nozha; Ben Naceur, Basma; Rekik, Nabila; Fourati, Hela; Daoud, Emna; Mnif, Zainab; Hadj Sliman, Mourad; Sellami-Boudawara, Tahia; Abid, Mohamed

    2012-01-01

    Congenital adrenal hyperplasia (CAH) describes a group of inherited autosomal recessive disorders characterized by enzyme defects in the steroidogenic pathways that lead to the biosynthesis of cortisol, aldosterone, and androgens. Chronic excessive adrenocorticotropic hormone (ACTH) stimulation may result in hyperplasia of ACTH-sensitive tissues in adrenal glands and other sites such as the testes, causing testicular masses known as testicular adrenal rest tumors (TARTs). Leydig cell tumors (...

  7. Clinical manifestations of testicular adrenal rest tumor in males with congenital adrenal hyperplasia

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    Min Kyung Yu

    2015-09-01

    Full Text Available PurposeIn male patients with congenital adrenal hyperplasia (CAH, the presence of testicular adrenal rest tumors (TARTs have been reported, however their prevalence and clinical manifestations are not well known. Untreated TARTs may lead to testicular structural damage and infertility. This study was conducted to investigate the prevalence of TARTs in male patients with CAH, and characterize the manifestations to identify contributing factors to TART.MethodsAmong 102 CAH patients aged 0-30 years, 24 male patients have been regularly followed up in our outpatient clinic at Severance Children's Hospital from January 2000 to December 2014. In order to reveiw the characteristics of TART patients, we calculated the mean levels of hormones during the 5 years before the time of investigation. Five patients underwent follow-up scrotal ultrasonography (US after adjusting the dosage of glucocorticoids.ResultsTARTs were detected in 8 of the 13 patients (61.5%. The median age of TARTs diagnosis was 20.2 years with the youngest case being 15.5 years old. The mean serum level of adrenocorticotropic hormone (ACTH was higher in the TARTs patient group compared to the non-TARTs group (P<0.05. The tumor size decreased in 3 cases, slightly increased in 1 case, and had no change in another case.ConclusionThe serum ACTH level might be associated with the growth promoting factor for TARTs, but the exact mechanism has not been clearly identified. Screening for TARTs using US is important in male patients with CAH for early-detection and prevention of ongoing complications, such as infertility.

  8. Physiological Basis for the Etiology, Diagnosis, and Treatment of Adrenal Disorders: Cushing’s Syndrome, Adrenal Insufficiency, and Congenital Adrenal Hyperplasia

    Science.gov (United States)

    Raff, Hershel; Sharma, Susmeeta T.; Nieman, Lynnette K.

    2014-01-01

    The hypothalamic-pituitary-adrenal (HPA) axis is a classic neuroendocrine system. One of the best ways to understand the HPA axis is to appreciate its dynamics in the variety of diseases and syndromes that affect it. Excess glucocorticoid activity can be due to endogenous cortisol overproduction (spontaneous Cushing’s syndrome) or exogenous glucocorticoid therapy (iatrogenic Cushing’s syndrome). Endogenous Cushing’s syndrome can be subdivided into ACTH-dependent and ACTH-independent, the latter of which is usually due to autonomous adrenal overproduction. The former can be due to a pituitary corticotroph tumor (usually benign) or ectopic ACTH production from tumors outside the pituitary; both of these tumor types overexpress the proopiomelanocortin gene. The converse of Cushing’s syndrome is the lack of normal cortisol secretion and is usually due to adrenal destruction (primary adrenal insufficiency) or hypopituitarism (secondary adrenal insufficiency). Secondary adrenal insufficiency can also result from a rapid discontinuation of long-term, pharmacological glucocorticoid therapy because of HPA axis suppression and adrenal atrophy. Finally, mutations in the steroidogenic enzymes of the adrenal cortex can lead to congenital adrenal hyperplasia and an increase in precursor steroids, particularly androgens. When present in utero, this can lead to masculinization of a female fetus. An understanding of the dynamics of the HPA axis is necessary to master the diagnosis and differential diagnosis of pituitary-adrenal diseases. Furthermore, understanding the pathophysiology of the HPA axis gives great insight into its normal control. PMID:24715566

  9. The Medical Home Concept and Congenital Adrenal Hyperplasia: a Comfortable Habitat!

    Directory of Open Access Journals (Sweden)

    Witchel SelmaFeldman

    2010-05-01

    Full Text Available Patient-centered interdisciplinary health care for children with chronic medical disorders represents an evolution from the traditional "stop and go" treatment for acute illnesses. This model for health care delivery has been called the "medical home," a concept that was originally developed in pediatrics for the care of children with special needs. Patient and family-centered, comprehensive, interdisciplinary, culturally effective, and readily accessible health care delivery is desirable for the care of children with congenital adrenal hyperplasia. As children with congenital adrenal hyperplasia (CAH become adolescents and young adults, transfer of this health care delivery model to adult endocrinologists is appropriate.

  10. The Medical Home Concept and Congenital Adrenal Hyperplasia: A Comfortable Habitat!

    Directory of Open Access Journals (Sweden)

    Selma Feldman Witchel

    2010-01-01

    Full Text Available Patient-centered interdisciplinary health care for children with chronic medical disorders represents an evolution from the traditional “stop and go” treatment for acute illnesses. This model for health care delivery has been called the “medical home,” a concept that was originally developed in pediatrics for the care of children with special needs. Patient and family-centered, comprehensive, interdisciplinary, culturally effective, and readily accessible health care delivery is desirable for the care of children with congenital adrenal hyperplasia. As children with congenital adrenal hyperplasia (CAH become adolescents and young adults, transfer of this health care delivery model to adult endocrinologists is appropriate.

  11. Alterations in Hydrocortisone Pharmacokinetics in a Patient With Congenital Adrenal Hyperplasia Following Bariatric Surgery

    OpenAIRE

    Mallappa, Ashwini; Nella, Aikaterini A.; Kumar, Parag; Brooks, Kristina M.; Perritt, Ashley F.; Ling, Alexander; Liu, Chia-Ying; Merke, Deborah P.

    2017-01-01

    Management of adult patients with classic congenital adrenal hyperplasia (CAH) is challenging and often complicated by obesity, metabolic syndrome, and adverse cardiovascular risk. Alterations in weight can influence cortisol kinetics. A 19-year-old woman with classic CAH and morbid obesity experienced persistent elevations of androgen levels while receiving oral glucocorticoid therapy. Control of adrenal androgens was improved with continuous subcutaneous hydrocortisone infusion therapy, but...

  12. Unilateral adrenal hyperplasia is a usual cause of primary hyperaldosteronism. Results from a Swedish screening study

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    Sigurjonsdottir Helga

    2012-09-01

    Full Text Available Abstract Background The existence of unilateral adrenal hyperplasia (AH has been considered a rare cause of primary hyperaldosteronism (PA. Methods In a prospective study we screened for PA in a non-selected (NSP and selected hypertensive population (SP, to define the cause of PA. We included 353 consecutive patients with hypertension; age 20 to 88 years, 165 women and 188 men, from a university-based Hypertension and Nephrology Outpatient clinics (123 SP and two primary care centres, (230 NSP from the same catch-up area. Serum aldosterone and plasma renin activity (PRA were measured and the ARR calculated. Verifying diagnostic procedure was performed in patients with both elevated aldosterone and ARR. Patients diagnosed with PA were invited for adrenal venous sampling (AVS and offered laparoscopic adrenalectomy when AVS found the disease to be unilateral. Results After screening, 46 patients, 13% of the whole population (22.8% SP and 7.8% NSP had aldosterone and ARR above the locally defined cut-off limits (0.43 nmol/l and 1.28 respectively. After diagnostic verification, 20 patients (6% had PA, (14.5% SP and 1.4% NSP. Imaging diagnostic procedures with CT-scans and scintigraphy were inconclusive. AVS, performed in 15 patients verified bilateral disease in 4 and unilateral in 10 patients. One AVS failed. After laparoscopic adrenalectomy, 4 patients were found to have adenoma and 5 unilateral AH. One patient denied operation. Conclusion The prevalence of PA was in agreement with previous studies. The study finds unilateral PA common and unilateral AH as half of those cases. As may be suspected PA is found in much higher frequency in specialised hypertensive units compared to primary care centers. AVS was mandatory in diagnosis of unilateral PA.

  13. Primary Bilateral Non-Hodgkin's Lymphoma of the Adrenal Gland: A Case Report

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    Ahmed Amine Bouchikhi

    2012-01-01

    Full Text Available Primary bilateral non-Hodgkin's lymphoma (NHL of the adrenal gland is a very rare entity. Indeed less than 60 cases have been reported in the literature. Hence, we report a case of high-grade lymphoma of both adrenal glands that was found in a young patient of 32 years of age. The patient was admitted in the emergency department of our hospital with a profile of hemorrhagic shock. After stabilization, the imaging investigations demonstrated large bilateral adrenal masses. The CT-scan guided biopsy of both adrenal glands allowed the diagnosis of primary bilateral adrenal NHL. The patient died after the first chemotherapy session. The presence of bilateral adrenal masses associated with a rapid increase of volume should raise the diagnosis of primary adrenal non-Hodgkin's lymphoma.

  14. A Rare Case Report of Bilateral Complex Macrocystic Adrenal Hemorrhage Mimicking Fetal Neuroblastoma

    OpenAIRE

    Sindhwani, Geetika; Patel, Viral; Jain, Abhinav

    2018-01-01

    Fetal and neonatal adrenal glands are large vascular organs, which make them vulnerable to frequent bleeding. Although neonatal adrenal hemorrhage is commonly reported, it is rarely diagnosed on antenatal sonography. We present a rare case of prenatally diagnosed bilateral adrenal hemorrhage, which mimicked antenatal neuroblastoma.

  15. A Recurrence of Bilateral Diffuse Sclerosing Lobular Hyperplasia of Breast: A Case Report.

    Science.gov (United States)

    Elfituri, Osama; Sonawane, Snehal; Xu, Haoliang; Warso, Michael A; Wiley, Elizabeth

    2017-12-01

    Mammary sclerosing lobular hyperplasia is an uncommon benign fibroproliferative lesion of adolescent and young women, often of African American heritage with an incidence of ~3%. Patients generally complain of a palpable, painless, or slightly tender and well-defined lump in breast. Very rarely, this lesion may be bilateral and diffuse. The definitive diagnosis of sclerosing lobular hyperplasia requires histopathologic evaluation. Here, we describe a case of diffuse sclerosing lobular hyperplasia in a 29-year-old African American woman that required bilateral mastectomy and recurred bilaterally requiring second resections. This appears to be the first report of this phenomenon.

  16. Adrenal rest tissue in gonads of patients with classical congenital adrenal hyperplasia: multicenter study of 45 French male patients.

    Science.gov (United States)

    Pierre, Peggy; Despert, François; Tranquart, François; Coutant, Régis; Tardy, Véronique; Kerlan, Véronique; Sonnet, Emmanuel; Baron, Sabine; Lorcy, Yannick; Emy, Philippe; Delavierre, Dominique; Monceaux, Françoise; Morel, Yves; Lecomte, Pierre

    2012-12-01

    Several cases of testicular adrenal rest tumours have been reported in men with congenital adrenal hyperplasia (CAH) due to the classical form of 21-hydroxylase deficiency but the prevalence has not been established. The aims of this report were to evaluate the frequency of testicular adrenal rest tissue in this population in a retrospective multicentre study involving eight endocrinology centres, and to determine whether treatment or genetic background had an impact on the occurrence of adrenal rest tissue. Testicular adrenal rest tissue (TART) was sought clinically and with ultrasound examination in forty-five males with CAH due to the classical form of 21-hydroxylase deficiency. When the diagnosis of testicular adrenal rest tumours was sought, good observance of treatment was judged on biological concentrations of 17-hydroxyprogesterone (17OHP), delta4-androstenedione, active renin and testosterone. The results of affected and non-affected subjects were compared. TART was detected in none of the 18 subjects aged 1 to 15years but was detected in 14 of the 27 subjects aged more than 15years. Five patients with an abnormal echography result had no clinical signs. Therapeutic control evaluated at diagnosis of TART seemed less effective when diagnosis was made in patients with adrenal rest tissue compared to TART-free subjects. Various genotypes were observed in patients with or without TART. Due to the high prevalence of TART in classical CAH and the delayed clinical diagnosis, testicular ultrasonography must be performed before puberty and thereafter regularly during adulthood even if the clinical examination is normal. Copyright © 2012 Elsevier Masson SAS. All rights reserved.

  17. Prevalence of ovarian adrenal rest tumours and polycystic ovaries in females with congenital adrenal hyperplasia: results of ultrasonography and MR imaging.

    NARCIS (Netherlands)

    Stikkelbroeck, N.M.; Hermus, A.R.M.M.; Schouten, D.; Suliman, H.M.; Jager, G.J.; Braat, D.D.M.; Otten, B.J.

    2004-01-01

    The aim of the investigation was to assess the prevalence of ovarian adrenal rest tumours and polycystic ovaries in female patients with congenital adrenal hyperplasia (CAH). Thirteen female CAH patients (median age 19.8 years, range 14.8-23.5 years) underwent transvaginal (n=6) or transabdominal

  18. Metachronous Bilateral Isolated Adrenal Metastasis from Rectal Adenocarcinoma: A Case Report

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    H. Jabir

    2014-01-01

    Full Text Available We report a case of adrenal metastasis from colorectal cancer in a 54-year-old woman. Nine months after resection for advanced rectal carcinoma, a computed tomography scan revealed bilateral adrenal metastasis. The level of serum carcinoembryonic antigen was normal. A bilateral adrenalectomy was performed after chemotherapy. Histopathological examination showed adenocarcinoma, compatible with metastasis from the rectal cancer. Adrenal metastasis should be considered in the patients’ follow-up for colorectal cancer.

  19. Bilateral coronoid hyperplasia causing painless limitation of mandibular movement

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    Maryam Ghazizadeh, DDS, MS

    2018-02-01

    Full Text Available The coronoid process is a beaklike process in the ramus of the mandible. Coronoid process hyperplasia (CPH is a rare possible cause of reduced mouth opening. An overgrown process interferes with mandibular rotation and lateral excursion and hence leads to restricted mouth opening (RMO. Although some factors are suggested, etiology of CPH is not completely known. Prescription of suitable radiography is necessary for an accurate diagnosis. This article reports a 30-year-old man with bilateral CPH and progressive RMO since childhood. This disorder affected his oral hygiene and quality of life. With the help of different types of radiography, CPH was diagnosed and coronoidectomy was the only treatment option. The patient showed normal jaw movements after the surgery and postoperative physiotherapy. General dentists have an important role in noticing RMO and referring the patients to maxillofacial radiologists. Although it is a rare phenomenon, general dentists need to keep CPH in mind as a possible cause. Panoramic imaging accompanied by computed tomography or cone beam computed tomography is the best imaging option in such cases.

  20. Feminising genitoplasty: one-stage genital reconstruction in congenital adrenal hyperplasia: 30 years' experience.

    Science.gov (United States)

    Roll, M F; Kneppo, C; Roth, H; Bettendorf, M; Waag, K-L; Holland-Cunz, S

    2006-10-01

    The study objective is to evaluate the results of our surgical technique for children with congenital adrenal hyperplasia and ambiguous genitalia at the University Hospital of Heidelberg, Department of Paediatric Surgery. The records of 19 patients with congenital adrenal hyperplasia treated between 1972 and 2004 were reviewed with respect to age at surgery, operative procedures and outcome. We describe the recession clitoroplasty technique currently used in our hospital and highlight the importance of short and long-term follow-up results with respect to appearance, position and size of the clitoris and quality of the vagina. One-stage recession clitoroplasty and vaginoplasty gives very satisfactory cosmetic and functional results, with few complications and a reduced need for secondary surgical interventions. The results of this study support the assumption that total correction can be achieved through a single-stage operation, performed in infancy.

  1. Physical, social and societal functioning of children with congenital adrenal hyperplasia (CAH) and their parents, in a Dutch population.

    NARCIS (Netherlands)

    Sanches, S.A.; Wiegers, T.A.; Otten, B.J.; Claahsen-van der Grinten, H.L.

    2012-01-01

    BACKGROUND: Most research concerning congenital adrenal hyperplasia (CAH) and related conditions caused by primary adrenal insufficiency, such as Addison's or Cushing's disease, has focused on medical aspects rather than on patients' quality of life. Therefore, our objective was to investigate the

  2. Mandibular Movement Restoration in a Child with Bilateral Coronoid Hyperplasia: A Case Report

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    Danica Popovik Monevska

    2016-04-01

    CONCLUSIONS: The article presents a clinical and surgical case of bilateral coronoidectomy in a 3-year-old girl, with retrognathic mandible. The diagnosis of bilateral coronoid process hyperplasia was confirmed, and the surgical treatment was under general anesthesia, with nasotracheal intubation guided by a nasofiber endoscope, using an intraoral approach.

  3. Aberrant expression of glucagon receptors in adrenal glands of a patient with Cushing's syndrome and ACTH-independent macronodular adrenal hyperplasia Expresion aberrante de receptores de glucagón en tejido adrenal de un paciente con síndrome de Cushing e hiperplasia adrenal macronodular indedependiente de ACTH

    Directory of Open Access Journals (Sweden)

    Valeria de Miguel

    2010-06-01

    Full Text Available Adrenocorticotropin (ACTH independent bilateral macronodular adrenal hyperplasia (AIMAH is a rare cause of Cushing´s syndrome, characterized by bilateral adrenal lesions and excess cortisol production despite ACTH suppression. Cortisol synthesis is produced in response to abnormal activation of G-protein- coupled receptors, such as gastric inhibitory peptide, vasopressin, beta adrenergic agonists, LH/hCG and serotonin receptors. The aim of this study was to analyze the expression of glucagon receptors in adrenal glands from an AIMAH patient. A patient with ACTH-independent Cushing´s syndrome and bilateral macronodular adrenal hyperplasia was screened for altered activation of adrenal receptors by physiological (mixed meal and pharmacological (gonadotrophin releasing hormone, ACTH and glucagon tests. The results showed abnormally high levels of serum cortisol after stimulation with glucagon. Hypercortisolism was successfully managed with ketoconazole treatment. Interestingly, a 4-month treatment with a somatostatin analogue (octreotide was also able to reduce cortisol secretion. Finally, Cushing's syndrome was cured after bilateral adrenalectomy. Abnormal mRNA expression for glucagon receptor in the patient´s adrenal glands was observed by Real-Time PCR procedure. These results strongly suggest that the mechanism of AIMAH causing Cushing´s syndrome in this case involves the illicit activation of adrenal glucagon receptors. This is the first case reported of AIMAH associated with ectopic glucagon receptors.La hiperplasia adrenal macronodular bilateral independiente de ACTH (HAMIA es una causa infrecuente de Síndrome de Cushing, caracterizada por lesiones adrenales bilaterales, hipercortisolismo y ACTH plasmática suprimida. La síntesis de cortisol estaría regulada a través de ligandos de receptores asociados a proteína G que se expresan en forma aberrante en la corteza de las glándulas adrenales. El objetivo de este trabajo es analizar

  4. Mass Spectrometry-Based Adrenal and Peripheral Venous Steroid Profiling for Subtyping Primary Aldosteronism

    NARCIS (Netherlands)

    Eisenhofer, G.; Dekkers, T.; Peitzsch, M.; Dietz, A.S.; Bidlingmaier, M.; Treitl, M.; Williams, T.A.; Bornstein, S.R.; Haase, M.; Rump, L.C.; Willenberg, H.S.; Beuschlein, F.; Deinum, J.; Lenders, J.W.; Reincke, M.

    2016-01-01

    BACKGROUND: Differentiating patients with primary aldosteronism caused by aldosterone-producing adenomas (APAs) from those with bilateral adrenal hyperplasia (BAH), which is essential for choice of therapeutic intervention, relies on adrenal venous sampling (AVS)-based measurements of aldosterone

  5. Systematic review: diagnostic procedures to differentiate unilateral from bilateral adrenal abnormality in primary aldosteronism.

    NARCIS (Netherlands)

    Kempers, M.J.E.; Lenders, J.W.M.; Outheusden, L. van; Wilt, G.J. van der; Schultze Kool, L.J.; Hermus, A.R.M.M.; Deinum, J.

    2009-01-01

    BACKGROUND: Computed tomography (CT), magnetic resonance imaging (MRI), and adrenal vein sampling (AVS) are used to distinguish unilateral from bilateral increased aldosterone secretion as a cause of primary aldosteronism. This distinction is crucial because unilateral primary aldosteronism can be

  6. Congenital adrenal hyperplasia - experience from a tertiary centre in South India

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    George Belinda

    2012-01-01

    Full Text Available Congenital adrenal hyperplasia is a group of autosomal recessive disorders caused by enzyme deficiency which leads to defects in biosynthesis of steroid precursors. Most common is 21 hydroxylase deficiency. Clinical spectrum varies from non-classical CAH to classic CAH, and it may be simple virilising form or salt-wastinfg type. 29 patients were included in our study from January 2012 to October 2012. 76% were females. Male babies typically presented with adrenal crisis between 3 rd to 6 th week of life. Around 20% of females were identified and appropriately treated only after late adolescence. Short stature was seen in 1/3 rd of patients. 1/3 rd of patients had suppressed 17 OHP levels suggestive of over-replacement therapy which may contribute to final reduction in adult height.

  7. Reproductive outcomes of female patients with congenital adrenal hyperplasia due to 21-hydroxylase defi ciency

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    Mouna Feki Mnif

    2013-01-01

    Full Text Available Fertility in women with congenital adrenal hyperplasia (CAH due to 21-hydroxylase deficiency (21-OHD appears to be reduced, especially in women with the classic salt-wasting type. Several factors have been suggested to contribute to this subfertility such as androgen excess, adrenal progesterone hypersecretion, consequences of genital reconstructive surgery, secondary polycystic ovaries syndrome, and psychosexual factors. In contrast to this subfertility, pregnancies are commonly normal and uneventful. Adequate glucocorticoid therapy and improvement of surgical and psychological management could contribute to optimize fertility in CAH female patients, even among women with the classic variant. This review provides current information regarding the reproductive outcomes of women with CAH due to 21-OHD and the fertility and pregnancy issues in this population.

  8. Pitfalls in molecular diagnosis of 21-hydroxylase deficiency in congenital adrenal hyperplasia

    OpenAIRE

    Kolahdouz, Mahsa; Mohammadi, Zahra; Kolahdouz, Parisa; Tajamolian, Masoud; Khanahmad, Hossein

    2015-01-01

    Congenital adrenal hyperplasia (CAH) is a putative error of metabolism with autosomal recessive heredity pattern. The main manifestations of classic form of CAH are salt-wasting, dehydration and simple virilization in both sexes and ambiguous genitalia in female gender. 21-hyroxylase (CYP21A2) impairment with prevalence value of 1 in 10,000?15,000 live births is the most common etiology of CAH. Because of consanguineous marriages, the frequency of the CAH in Iran is very high. A wide range of...

  9. Adrenal failure due to bilateral adrenal metastasis of rectal cancer: A case report

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    Yuki Imaoka

    2017-01-01

    Conclusion: The incidence of adrenal insufficiency may be underestimated in patients with multiple metastasis. Appropriate therapy with adrenal corticosteroid hormone supplementation may lead to a significant improvement in the patient’s symptoms and quality of life.

  10. Case report of a bilateral adrenal myelolipoma associated with Cushing disease.

    Science.gov (United States)

    Park, Se Yoon; Kwak, Mi Kyung; Kim, Hye Jeong; Park, Hyeong Kyu; Suh, Kyo-Il; Yoo, Myung Hi; Jin, So Young; Yun, Sumi; Byun, Dong Won

    2017-12-01

    Adrenal myelolipomas are rare benign tumors, composed of a variable mixture of mature adipose tissue and hematopoietic tissue. These tumors are frequently detected incidentally and are usually asymptomatic, and hormonally inactive. During a routine health checkup, a 52-year-old man was found to have a tumor on the bilateral adrenal glands. Abdominal computed tomography revealed a well-defined, heterogeneously enhanced bilateral adrenal mass, suggesting a myelolipoma. The hormonal evaluation revealed adrenocorticotropic hormone (ACTH) dependent Cushing syndrome. The patient underwent left adrenalectomy, and transsphenoidal resection of a pituitary mass. The final diagnosis was adrenal myelolipoma associated with Cushing disease. Growth of right adrenal myelolipoma was detected during the 7-year follow-up. There were enhancing pituitary lesions in repeat magnetic resonance imaging of the sellar region, which implies persistent or recurrent pituitary adenoma. This case reinforces relationship between Cushing disease and adrenal myelolipoma. To the best of our knowledge, this is the first reported pathologically confirmed bilateral adrenal myelolipoma associated with Cushing disease. This report supports the idea that ACTH is associated with the development of adrenal myelolipoma. Copyright © 2017 The Authors. Published by Wolters Kluwer Health, Inc. All rights reserved.

  11. Testicular adrenal rest tumours in boys, adolescents and adult men with congenital adrenal hyperplasia may be associated with the CYP21A2 mutation

    DEFF Research Database (Denmark)

    Mouritsen, Annette; Jørgensen, Niels; Main, Katharina M

    2010-01-01

    % of CAH adults and may already appear during childhood. Whether genotype sub-types can account for the development of TART has not been investigated previously. We therefore investigated this by coupling clinical information of CAH patients with information of their genetic mutation. In 49 male patients......Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder with impaired function of the adrenal cortex caused by mutations in the CYP21A2 gene. Deficiency of steroid 21-hydroxylase accounts for 80-95% of CAH cases. Testicular adrenal rest tumours (TART) may be prevalent in up to 95...

  12. Growth of a progesterone receptor-positive meningioma in a female patient with congenital adrenal hyperplasia.

    Science.gov (United States)

    O'Shea, T; Crowley, R K; Farrell, M; MacNally, S; Govender, P; Feeney, J; Gibney, J; Sherlock, M

    2016-01-01

    Meningioma growth has been previously described in patients receiving oestrogen/progestogen therapy. We describe the clinical, radiological, biochemical and pathologic findings in a 45-year-old woman with congenital adrenal hyperplasia secondary to a defect in the 21-hydroxylase enzyme who had chronic poor adherence to glucocorticoid therapy with consequent virilisation. The patient presented with a frontal headache and marked right-sided proptosis. Laboratory findings demonstrated androgen excess with a testosterone of 18.1 nmol/L (0-1.5 nmol) and 17-Hydroxyprogesterone >180 nmol/L (transsexual patients undergoing therapy with high-dose oestrogen and progestogens. Progesterone receptor positivity has been described previously in meningiomas. 17-Hydroxyprogesterone is elevated in CAH and has affinity and biological activity at the progesterone receptor. Therefore, we hypothesise that patients who have long-standing increased adrenal androgen precursor concentrations may be at risk of meningioma growth. Patients with long-standing CAH (particularly if not optimally controlled) may present with other complications, which may be related to long-standing elevated androgen or decreased glucocorticoid levels.Chronic poor control of CAH is associated with adrenal myelolipoma and adrenal rest tissue tumours.Meningiomas are sensitive to endocrine stimuli including progesterone, oestrogen and androgens as they express the relevant receptors.

  13. Alteraciones neuropsicológicas en la hiperplasia adrenal congénita Neuropsychological disorders related to congenital adrenal hyperplasia

    Directory of Open Access Journals (Sweden)

    Yaser Ramírez Benítez

    2008-12-01

    Full Text Available INTRODUCCIÓN: la hiperplasia adrenal congénita engloba un conjunto de enfermedades genéticas de transmisión autosómica recesiva caracterizadas por un trastorno de la esteroidogénesis suprarrenal. Constituye un caso típico de daño cerebral por el efecto patológico de las hormonas sexuales en el sistema nervioso en desarrollo, y a esto se le suman las secuelas secundarias al cuadro grave de crisis adrenal que aparece en la forma clásica a los pocos días de vida. MÉTODOS: estudio de caso en un niño de 6 años de edad con antecedentes de hiperplasia adrenal congénita perdedora de sal. Se determinaron los puntos débiles y fuertes en el desarrollo a través de la batería neuropsicológica Luria Inicial. Como complementario a la evaluación se aplicó la Escala de Inteligencia de Weschler y el Cuestionario de Comportamiento Infantil para padres y profesores. RESULTADOS: el niño presenta un perfil neuropsicológico caracterizado por bajas puntuaciones en: motricidad manual, habilidades viso-espaciales, impulsividad, pobre vocabulario, dificultades en operaciones de cálculos sencillos, en el reconocimiento de objetos por el tacto sin la ayuda visual y en la rapidez de procesamiento. La capacidad de inteligencia está en límites normales con un rendimiento más bajo en la escala no verbal. En la escala de comportamiento se identificaron las dificultades en la atención y en el aprendizaje. CONCLUSIONES: el perfil neuropsicológico se caracteriza por tener bajas ejecuciones en tareas verbales, no verbales y en la velocidad de procesamiento. El tratamiento hormonal en los primeros días de nacido permite que el desarrollo siga un curso "normal", pero todo proceso tiene un costo que se refleja en la adquisición de habilidades psicológicas superioresCongenital adrenal hyperplasia includes a series of genetic diseases of autosomal recessive transmission characterized by a disorder of suprarenal esteroidogenesis. This is a typical case of

  14. Two Cases of. Cushing's Syndrome tumour and bilateral hyperplasia

    African Journals Online (AJOL)

    Two patients, one with Cushing's syndrome and one with Cushing's disease, are presented. In the first case the syndrome was caused by a tumour of the right suprarenal gland which was treated by unilateral adrenalectomy, and the second case was diagnosed as hyperplasia of the left suprarenal gland, eventually leading ...

  15. Clinical and molecular profile of newborns with confirmed or suspicious congenital adrenal hyperplasia detected after a public screening program implementation.

    Science.gov (United States)

    Kopacek, Cristiane; Prado, Mayara J; da Silva, Claudia M D; de Castro, Simone M; Beltrão, Luciana A; Vargas, Paula R; Grandi, Tarciana; Rossetti, Maria L R; Spritzer, Poli Mara

    2018-04-30

    To describe the results obtained in a neonatal screening program after its implementation and to assess the clinical and molecular profiles of confirmed and suspicious congenital adrenal hyperplasia cases. A cross-sectional study was conducted. Newborns with suspected disease due to high 17-hydroxyprogesterone levels and adjusted for birth weight were selected. Classical congenital adrenal hyperplasia (salt-wasting and simple virilizing forms) was diagnosed by an increase in 17-hydroxyprogesterone levels as confirmed in the retest, clinical evaluation, and genotype determined by SNaPshot and multiplex ligation-dependent probe amplification. After 24 months, 15 classic congenital adrenal hyperplasia cases were diagnosed in a total of 217,965 newborns, with an estimated incidence of 1:14,531. From 132 patients, seven non-classical and 14 heterozygous patients were screened for CYP21A2 mutations, and 96 patients presented false positives with wild type CYP21A2. On retest, increased 17-hydroxyprogesterone levels were found in classical congenital adrenal hyperplasia patients and showed significant correlation with genotype-related classical genital adrenal hyperplasia. The most frequent mutations were IVS2-13A/C>G followed by gene deletion or rearrangement events in the classical form. In non-classical and heterozygous diseases, p.Val282Leu was the most common mutation. The results underscore the effectiveness of congenital adrenal hyperplasia neonatal screening in the public health system and indicate that the adopted strategy was appropriate. The second sample collection along with genotyping of suspected cases helped to properly diagnose both severe and milder cases and delineate them from false positive patients. Copyright © 2018. Published by Elsevier Editora Ltda.

  16. Leydig Cell Tumor Associated with Testicular Adrenal Rest Tumors in a Patient with Congenital Adrenal Hyperplasia due to 11β-Hydroxylase Deficiency

    Directory of Open Access Journals (Sweden)

    Nadia Charfi

    2012-01-01

    Full Text Available Congenital adrenal hyperplasia (CAH describes a group of inherited autosomal recessive disorders characterized by enzyme defects in the steroidogenic pathways that lead to the biosynthesis of cortisol, aldosterone, and androgens. Chronic excessive adrenocorticotropic hormone (ACTH stimulation may result in hyperplasia of ACTH-sensitive tissues in adrenal glands and other sites such as the testes, causing testicular masses known as testicular adrenal rest tumors (TARTs. Leydig cell tumors (LCTs are make up a very small number of all testicular tumors and can be difficult to distinguish from TARTs. This distinction is interesting because LCTs and TARTs require different therapeutic approaches. Hereby, we present an unusual case of a 19-year-old patient with CAH due to 11β-hydroxylase deficiency, who presented with TARTs and an epididymal Leydig cell tumor.

  17. Management issues of congenital adrenal hyperplasia during the transition from pediatric to adult care.

    Science.gov (United States)

    Choi, Jin-Ho; Yoo, Han-Wook

    2017-02-01

    Steroid 21-hydroxylase deficiency is the most prevalent form of congenital adrenal hyperplasia (CAH), accounting for approximately 95% of cases. With the advent of newborn screening and hormone replacement therapy, most children with CAH survive into adulthood. Adolescents and adults with CAH experience a number of complications, including short stature, obesity, infertility, tumor, osteoporosis, and reduced quality of life. Transition from pediatric to adult care and management of long-term complications are challenging for both patients and health-care providers. Psychosocial issues frequently affect adherence to glucocorticoid treatment. Therefore, the safe transition of adolescents to adult care requires regular follow-up of patients by a multidisciplinary team including pediatric and adult endocrinologists. The major goals for management of adults with 21-hydroxylase deficiency are to minimize the long-term complications of glucocorticoid therapy, reduce hyperandrogenism, prevent adrenal or testicular adrenal rest tumors, maintain fertility, and improve quality of life. Optimized medical or surgical treatment strategies should be developed through coordinated care, both during transition periods and throughout patients' lifetimes. This review will summarize current knowledge on the management of adults with CAH, and suggested appropriate approaches to the transition from pediatric to adult care.

  18. Low-Dose Dexamethasone Therapy from Infancy of Virilizing Congenital Adrenal Hyperplasia

    Directory of Open Access Journals (Sweden)

    Stephenson Kerry

    2009-12-01

    Full Text Available Objective. To assess the growth and control of adrenal androgen secretion in children with virilizing congenital adrenal hyperplasia (CAH treated with dexamethasone. Method. We examined doses used, control of adrenal androgen secretion, and growth and skeletal maturation of 8 children with CAH treated with dexamethasone beginning in infancy. Results. 3 boys and 5 girls with classical CAH (17-hydroxyprogesterone at diagnosis >20,000 ng/dL were treated with dexamethasone beginning at diagnosis ( ; all doses were given in the morning using a dosing syringe to administer a 0.1 mg/mL elixir. The children were treated for years over which time the change in bone age to chronological age ratio (BA/CA was . Most recent height Z' scores were , and body mass index (BMI scores were . Late afternoon levels of 17-hydroxyprogesterone, androstenedione, and testosterone were  ng/dL ( nmol/L,  ng/dL ( nmol/L, and  ng/dL; ( nmol/L, respectively. Conclusions. These observations show that low doses of dexamethasone can be used to effectively treat CAH beginning in infancy.

  19. Prevalence of ovarian adrenal rest tumours and polycystic ovaries in females with congenital adrenal hyperplasia: results of ultrasonography and MR imaging

    Energy Technology Data Exchange (ETDEWEB)

    Stikkelbroeck, Nike M.M.L.; Schouten, Diana; Otten, Barto J. [University Medical Centre Nijmegen, Department of Paediatric Endocrinology, P.O. Box 9101, Nijmegen (Netherlands); Hermus, Ad R.M.M. [University Medical Centre Nijmegen, Department of Endocrinology, P.O. Box 9101, Nijmegen (Netherlands); Suliman, Harold M.; Jager, Gerrit J. [University Medical Centre Nijmegen, Department of Radiology, P.O. Box 9101, Nijmegen (Netherlands); Braat, Didi D.M. [University Medical Centre Nijmegen, Department of Obstetrics and Gynaecology, P.O. Box 9101, Nijmegen (Netherlands)

    2004-10-01

    The aim of the investigation was to assess the prevalence of ovarian adrenal rest tumours and polycystic ovaries in female patients with congenital adrenal hyperplasia (CAH). Thirteen female CAH patients (median age 19.8 years, range 14.8-23.5 years) underwent transvaginal (n=6) or transabdominal (n=7) ultrasonography by a gynaecologist and MR imaging (n=13) of the ovaries (pre and post contrast-enhanced T1- and T2-weighted images). Ovarian adrenal rest tumours were defined as small hypoechoic and multifocal nodules on ultrasound and isointense lesions on T1- and hypointense on T2-weighted MR images (derived from characteristics of testicular adrenal rest tumours). Polycystic ovaries were defined as the presence of {>=}10 follicles arranged peripherally around or scattered throughout increased stroma. No ovarian adrenal rest tumours were found either on ultrasound, or by MR imaging. Polycystic ovaries were found in 2 of the 13 patients (15.4%), both with ultrasound and MR. No ovarian adrenal rest tumours were detected in these female CAH patients, which suggests that ovarian adrenal rest tumours in CAH females are rare. The prevalence of polycystic ovaries corresponded to that in the general population. From these results, we would suggest that routine ovarian imaging in CAH females is not indicated. However, when ovarian dysfunction is present, ovarian imaging is advised, first by ultrasonography, to detect ovarian adrenal rest tumours or polycystic ovaries. (orig.)

  20. Prevalence of ovarian adrenal rest tumours and polycystic ovaries in females with congenital adrenal hyperplasia: results of ultrasonography and MR imaging

    International Nuclear Information System (INIS)

    Stikkelbroeck, Nike M.M.L.; Schouten, Diana; Otten, Barto J.; Hermus, Ad R.M.M.; Suliman, Harold M.; Jager, Gerrit J.; Braat, Didi D.M.

    2004-01-01

    The aim of the investigation was to assess the prevalence of ovarian adrenal rest tumours and polycystic ovaries in female patients with congenital adrenal hyperplasia (CAH). Thirteen female CAH patients (median age 19.8 years, range 14.8-23.5 years) underwent transvaginal (n=6) or transabdominal (n=7) ultrasonography by a gynaecologist and MR imaging (n=13) of the ovaries (pre and post contrast-enhanced T1- and T2-weighted images). Ovarian adrenal rest tumours were defined as small hypoechoic and multifocal nodules on ultrasound and isointense lesions on T1- and hypointense on T2-weighted MR images (derived from characteristics of testicular adrenal rest tumours). Polycystic ovaries were defined as the presence of ≥10 follicles arranged peripherally around or scattered throughout increased stroma. No ovarian adrenal rest tumours were found either on ultrasound, or by MR imaging. Polycystic ovaries were found in 2 of the 13 patients (15.4%), both with ultrasound and MR. No ovarian adrenal rest tumours were detected in these female CAH patients, which suggests that ovarian adrenal rest tumours in CAH females are rare. The prevalence of polycystic ovaries corresponded to that in the general population. From these results, we would suggest that routine ovarian imaging in CAH females is not indicated. However, when ovarian dysfunction is present, ovarian imaging is advised, first by ultrasonography, to detect ovarian adrenal rest tumours or polycystic ovaries. (orig.)

  1. Delayed diagnosis of congenital adrenal hyperplasia with salt wasting due to type II 3beta-hydroxysteroid dehydrogenase deficiency

    DEFF Research Database (Denmark)

    Johannsen, Trine H; Mallet, Delphine; Dige-Petersen, Harriet

    2005-01-01

    Classical 3beta-hydroxysteroid dehydrogenase (3beta-HSD) deficiency is a rare cause of congenital adrenal hyperplasia. We report two sisters presenting with delayed diagnoses of classical 3beta-HSD, despite salt wasting (SW) episodes in infancy. Sibling 1 was referred for premature pubarche, slig...

  2. Tactic of diagnostic and treatment of patients with bilateral adrenal gland’s lesions associated with primary aldosteronism

    Directory of Open Access Journals (Sweden)

    А. O. Nykonenko

    2017-08-01

    Full Text Available Introduction. The problem of primary aldosteronism (PA different forms diagnosis and treatment is absolutely interesting in the 21st century as over the last 15 years it has been proved that PA syndrome had been distributed much more than previously thought. It accounts for 10-15% of all cases of hypertension. Aim: to analyze the diagnostic and treatment of patients with bilateral lesions of adrenal glands (AG with PA. Materials and Methods. During the period from 2014 to March 2017 year 14 patients with bilateral lesions of AG with PA have been examined and treated at the clinic. 8 (57.1% were women and 6 (42.9% were men. The average age of patients was 55,6±11,9 years. Adenomas of AG were diagnosed in 6 (42.9% of cases, hyperplasia of AG in 8 (57.1%. We measured the concentration of aldosterone, renin, adrenocorticotropic hormone, cortisol in plasma, levels of potassium and sodium, loading tastes, night dexamethasone suppression test, computer tomography and adrenal vein sampling (AVS. Surgical treatment was performed in 7 (50% of patients - in 3 cases (21.4% it was the laparoscopic adrenalectomy (LAE and in 1 case (7.2% – the laparoscopic resection of the adrenal gland (LRAG, for 3 (21.4% patients endovascular destruction of the AG (EVD was performed. Conservative therapy including aldosterone antagonists was prescribed for 7 (50% patients. Results and Discussion. Indication for the surgical treatment or REVD was a gradient of lateralization rated 3:1 and more. If the gradient was below a specified value, the result was regarded as idiopathic aldosteronism (IA and aldosterone antagonists (verospiron, eplerenonum with control of K+ concentration level were used. We believe that in case with bilateral adenomas of AG, if there are no conditions for the AG resection, it is necessary to perform LAE of functionally more active gland. It helps to stabilize the level of blood pressure without antihypertensive drugs prescription or with reducing of

  3. Should male gender assignment be considered in the markedly virilized patient With 46,XX and congenital adrenal hyperplasia?

    Science.gov (United States)

    Lee, Peter A; Houk, Christopher P; Husmann, Douglas A

    2010-10-01

    We assess the outcome in 46,XX men with congenital adrenal hyperplasia who were born with Prader 4 or 5 genitalia and assigned male gender at birth. After receiving institutional review board approval and subject consent we reviewed the medical records of 12 men 35 to 69 years old with 46,XX congenital adrenal hyperplasia, of whom 6 completed social and gender issue questionnaires. All subjects were assigned male gender at birth, were diagnosed with virilizing congenital adrenal hyperplasia at age greater than 3 years and indicated a male gender identity with sexual orientation to females. Ten of the 12 subjects had always lived as male and 2 who were reassigned to female gender in childhood subsequently self-reassigned as male. Nine of the 12 men had long-term female partners, including 7 married 12 years or more. The 3 subjects without a long-term female partner included 1 priest, 1 who was reassigned female gender, married, divorced and self-reassigned as male, and 1 with a girlfriend and sexual activity. All except the priest and the subject who was previously married when female indicated a strong libido and frequent orgasmic sexual activity. Responses to self-esteem, masculinity, body image, social adjustment and symptom questionnaires suggested adjustments related to the extent of familial and social support. Outcome data on severely masculinized 46,XX patients with congenital adrenal hyperplasia who were assigned male gender at birth indicate male gender identity in adulthood with satisfactory male sexual function in those retaining male genitalia. In men who completed questionnaires results were poorer in those lacking familial/social support. Male gender of rearing may be a viable option for parents whose children are born with congenital adrenal hyperplasia, a 46,XX karyotype and male genitalia, although positive parental and other support, and counseling are needed for adjustment. Copyright © 2010 American Urological Association Education and Research

  4. Neonatal Bartter Syndrome in association with congenital adrenal hyperplasia in a neonate - a rare combination.

    Science.gov (United States)

    Hussain, Shabbir

    2016-05-01

    Neonatal Bartter syndrome (NBS) is an autosomal recessive renal tubulopathy characterized by hypokalaemic, hypochloraemic metabolic alkalosis associated with increased urinary loss of sodium, potassium, calcium and chloride. There is hyperreninaemia and hyperaldosteronaemia but normotension. Congenital adrenal hyperplasia (CAH), another autosomal recessive condition, may present in the neonatal period with vomiting, hypovolaemia, failure to gain weight or ambiguous genitalia. We report a case of NBS and CAH combination in a neonate. A male neonate born at term was admitted with history of recurrent vomiting and dehydration episodes. Investigations revealed electrolytes imbalance, metabolic alkalosis, raised aldosterone and renin levels suggestive of NBS. He was treated successfully and discharged. He was re-admitted with the same symptoms. Further evaluation confirmed the presence of CAH as well. We report this case because of the rarity of this combination (NBS plus CAH) and to the best of our knowledge this is the first such case report from Pakistan.

  5. Congenital adrenal hyperplasia: as viewed by parents of affected children in India--a pilot study.

    Science.gov (United States)

    Bhakhri, Bhanu Kiran; Jain, Vandana

    2011-01-01

    A spectrum of myths and misconceptions about congenital adrenal hyperplasia (CAH) is prevalent among the parents of affected children in India. The perceptions of parents may affect several aspects of these children's management, and to explore these perceptions we carried out a cross-sectional questionnaire-based descriptive study during May 2010. Twenty-eight individuals (17 males and 11 females), parents of 22 affected children aged parents of misconceptions about CAH. These misconceptions were resulting in potentially harmful practices, and in addition there was immense societal pressure on the families as a result of ignorance and myths about the disorder. There is a need for regular CAH education and interaction programs to provide an acceptable platform for the parents and patients, where their concerns can be expressed and shared and their requirements addressed appropriately by a multidisciplinary team.

  6. Clinical profile of congenital adrenal hyperplasia and short-term response to treatment

    International Nuclear Information System (INIS)

    Lal, S.; Lal, S.; Jamro, B.U.; Jamro, S.

    2015-01-01

    To determine the clinical presentation of congenital adrenal hyperplasia and short- term response to treatment. Background: Congenital adrenal hyperplasia (CAH) is a genetic disorder which usually presents with life threatening emergencies. Awareness of physicians regarding these presentations is an essential for early diagnosis and lifesaving treatment. In view of the prevalence of the condition as reported from tertiary care centers within the country and other parts of the globe, we had carried out a study in the paediatric department of Shaheed Mohtrama Benazir Bhutto Medical University Larkana. Material and Methods: The study was conducted over a period of one year from July 2012 to June 2013. All infants presenting with vomiting, dehydration, shock, failure to thrive and ambiguous genitalia were examined and investigated thoroughly. The diagnosis was based upon a raised level of serum 17 OHP in a child with suggestive clinical features. Results: A total of 40 children were diagnosed to have CAH during the study period. The major presenting features were vomiting in 13 (32.5%), ambiguous genitalia 17 (42.5%), vomiting and ambiguous genitalia 10 (25%), shock 5(12.5%) and failure to thrive in 13 (32.5%) of cases. All the patients were followed up after initiation of treatment and good response was observed to short-term treatment. Conclusion: This study highlights the importance of common clinical features like vomiting, unreasonable dehydration, shock and ambiguous genitalia being the presenting features of CAH and the effectiveness of replacement therapy in amending life threatening emergencies due to this condition. (author)

  7. Pubertal development among girls with classical congenital adrenal hyperplasia initiated on treatment at different ages

    Directory of Open Access Journals (Sweden)

    Bindu Kulshreshtha

    2012-01-01

    Full Text Available Introduction: Children with congenital adrenal hyperplasia (CAH provide us an opportunity to study the clinical effects of androgen excess in humans. We studied the sequence of pubertal development in girls with congenital adrenal hyperplasia initiated on treatment at different ages, to assess the effects of androgen exposure on the Hypothalamic-Pituitary-Ovarian (HPO axis. Materials and Methods: Girls more than 18 years of age, with CAH, on follow-up at this hospital were the subjects for this study. Details of history, physical findings, laboratory evaluation, and medication were noted from their case records and verified from the patients and their / parents, in addition to assessment of their present health status. Result: We studied 24 patients of classical CAH (SW-2, SV-22, average age - 24.5 ± 6.6 years. All had varying degrees of genital ambiguity (Prader stage 3 (n = 13, Prader stage 2 (n = 10, Prader stage 1 (n = 1. Among them were13 girls, who were started on steroids after eight years of age. Girls who received treatment from infancy and early childhood had normal pubertal development (mean age at menarche 11.4 ± 1.7 years. Hirsutism was not a problem among them. Untreated children had progressive clitoral enlargement throughout childhood, developed pubic hair at around three to six years of age, and facial hair between nine and eleven years. Plasma testosterone ranged from 3 to 6 ng / ml prior to treatment. Six of the 13 untreated CAH girls had subtle breast development starting at ages 11 - 16 years and three had spontaneous infrequent vaginal bleeding starting at ages 11 - 17. Steroid supplementation initiated pubertal changes in older girls in two-to-six months′ time. Conclusion: There was a delay in HPO axis maturation (as evidenced by delayed pubertal development in the absence of treatment in girls with CAH. This could be corrected with steroid supplementation.

  8. Bilateral adrenal cystic neuroblastoma with superior vena cava syndrome and massive intracystic haemorrhage

    International Nuclear Information System (INIS)

    Pinarli, Faruk Guclu; Danaci, Murat; Diren, Baris; Tander, Burak; Rizalar, Riza; Dagdemir, Ayhan; Acar, Sabri

    2004-01-01

    Bilateral cystic adrenal tumours are a rare presentation of neuroblastoma. Intratumoural haemorrhage is a frequent finding in neuroblastoma, but is rarely symptomatic. We present an 11-month-old girl with predominantly cystic bilateral neuroblastomas and distant lymph-node metastasis. Massive intracystic haemorrhage and superior vena cava (SVC) syndrome were ominous prognostic factors, leading to death. Large tumours with intracystic haemorrhage might require a conservative approach. (orig.)

  9. Alterations in Hydrocortisone Pharmacokinetics in a Patient With Congenital Adrenal Hyperplasia Following Bariatric Surgery.

    Science.gov (United States)

    Mallappa, Ashwini; Nella, Aikaterini A; Kumar, Parag; Brooks, Kristina M; Perritt, Ashley F; Ling, Alexander; Liu, Chia-Ying; Merke, Deborah P

    2017-07-01

    Management of adult patients with classic congenital adrenal hyperplasia (CAH) is challenging and often complicated by obesity, metabolic syndrome, and adverse cardiovascular risk. Alterations in weight can influence cortisol kinetics. A 19-year-old woman with classic CAH and morbid obesity experienced persistent elevations of androgen levels while receiving oral glucocorticoid therapy. Control of adrenal androgens was improved with continuous subcutaneous hydrocortisone infusion therapy, but obesity-related comorbidities persisted. After undergoing sleeve gastrectomy, the patient experienced dramatic weight loss, with improvement in insulin sensitivity and fatty liver in the postbariatric period. Cortisol clearance studies performed to evaluate changes in hydrocortisone dose requirements showed marked alternations in cortisol pharmacokinetics with decreases in volume of distribution and cortisol clearance, along with an increase in area under the curve for cortisol. Hydrocortisone dose was subsequently decreased 34% by 15 months after surgery. Effective control of androgen excess on this lower hydrocortisone dose was achieved and continues 27 months after surgery. This case highlights obesity-related complications of glucocorticoid replacement therapy in the management of CAH. Individual patient factors, such as fatty liver disease and insulin resistance, can have a clinically important effect on cortisol metabolism. Bariatric surgery was a safe and effective treatment of obesity in this patient with CAH and should be considered for patients with CAH and multiple obesity-related comorbidities.

  10. Recent advances in biochemical and molecular analysis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency

    Directory of Open Access Journals (Sweden)

    Jin-Ho Choi

    2016-03-01

    Full Text Available The term congenital adrenal hyperplasia (CAH covers a group of autosomal recessive disorders caused by defects in one of the steroidogenic enzymes involved in the synthesis of cortisol or aldosterone from cholesterol in the adrenal glands. Approximately 95% of all CAH cases are caused by 21-hydroxylase deficiency encoded by the CYP21A2 gene. The disorder is categorized into classical forms, including the salt-wasting and the simple virilizing types, and nonclassical forms based on the severity of the disease. The severity of the clinical features varies according to the level of residual 21-hydroxylase activity. Newborn screening for CAH is performed in many countries to prevent salt-wasting crises in the neonatal period, to prevent male sex assignment in affected females, and to reduce long-term morbidities, such as short stature, gender confusion, and psychosexual disturbances. 17α-hydroxyprogesterone is a marker for 21-hydroxylase deficiency and is measured using a radioimmunoassay, an enzyme-linked immunosorbent assay, or a fluoroimmunoassay. Recently, liquid chromatography linked with tandem mass spectrometry was developed for rapid, highly specific, and sensitive analysis of multiple analytes. Urinary steroid analysis by gas chromatography mass spectrometry also provides qualitative and quantitative data on the excretion of steroid hormone metabolites. Molecular analysis of CYP21A2 is useful for genetic counseling, confirming diagnosis, and predicting prognoses. In conclusion, early detection using neonatal screening tests and treatment can prevent the worst outcomes of 21-hydroxylase deficiency.

  11. The Occurrence of Apparent Bilateral Aldosterone Suppression in Adrenal Vein Sampling for Primary Aldosteronism.

    Science.gov (United States)

    Shibayama, Yui; Wada, Norio; Naruse, Mitsuhide; Kurihara, Isao; Ito, Hiroshi; Yoneda, Takashi; Takeda, Yoshiyu; Umakoshi, Hironobu; Tsuiki, Mika; Ichijo, Takamasa; Fukuda, Hisashi; Katabami, Takuyuki; Yoshimoto, Takanobu; Ogawa, Yoshihiro; Kawashima, Junji; Ohno, Yuichi; Sone, Masakatsu; Fujita, Megumi; Takahashi, Katsutoshi; Shibata, Hirotaka; Kamemura, Kohei; Fujii, Yuichi; Yamamoto, Koichi; Suzuki, Tomoko

    2018-05-01

    In adrenal venous sampling (AVS) for patients with primary aldosteronism (PA), apparent bilateral aldosterone suppression (ABAS), defined as lower aldosterone/cortisol ratios in the bilateral adrenal veins than that in the inferior vena cava, is occasionally experienced. ABAS is uninterpretable with respect to lateralization of excess aldosterone production. We previously reported that ABAS was not a rare phenomenon and was significantly reduced after adrenocorticotropic hormone (ACTH) administration. To validate the effects of ACTH administration and adding sampling positions in the left adrenal vein on the prevalence of ABAS in the larger Japan Primary Aldosteronism Study. The data from 1689 patients with PA who underwent AVS between January 2006 and October 2016 were studied. All patients in the previous study, the West Japan Adrenal Vein Sampling study, were excluded. The prevalence of ABAS was investigated at two sampling positions in the left adrenal vein, the central vein and the common trunk, without and with ACTH administration. The prevalence of ABAS with ACTH administration was significantly lower than that without ACTH administration [without ACTH vs with ACTH: 79/440 (18.0%) vs 45/591 (7.6%); P sampling position, at the central vein and at the common trunk [33/591 (5.6%) vs 32/591 (5.4%); P = 1.00]. The effectiveness of ACTH administration for the reduction of ABAS in AVS regardless of the sampling position in the left adrenal vein was confirmed in the larger cohort.

  12. The Occurrence of Apparent Bilateral Aldosterone Suppression in Adrenal Vein Sampling for Primary Aldosteronism

    Science.gov (United States)

    Shibayama, Yui; Wada, Norio; Naruse, Mitsuhide; Kurihara, Isao; Ito, Hiroshi; Yoneda, Takashi; Takeda, Yoshiyu; Umakoshi, Hironobu; Tsuiki, Mika; Ichijo, Takamasa; Fukuda, Hisashi; Katabami, Takuyuki; Yoshimoto, Takanobu; Ogawa, Yoshihiro; Kawashima, Junji; Ohno, Yuichi; Sone, Masakatsu; Fujita, Megumi; Takahashi, Katsutoshi; Shibata, Hirotaka; Kamemura, Kohei; Fujii, Yuichi; Yamamoto, Koichi; Suzuki, Tomoko

    2018-01-01

    Abstract Context In adrenal venous sampling (AVS) for patients with primary aldosteronism (PA), apparent bilateral aldosterone suppression (ABAS), defined as lower aldosterone/cortisol ratios in the bilateral adrenal veins than that in the inferior vena cava, is occasionally experienced. ABAS is uninterpretable with respect to lateralization of excess aldosterone production. We previously reported that ABAS was not a rare phenomenon and was significantly reduced after adrenocorticotropic hormone (ACTH) administration. Objective To validate the effects of ACTH administration and adding sampling positions in the left adrenal vein on the prevalence of ABAS in the larger Japan Primary Aldosteronism Study. Patients The data from 1689 patients with PA who underwent AVS between January 2006 and October 2016 were studied. All patients in the previous study, the West Japan Adrenal Vein Sampling study, were excluded. Outcome Measurements The prevalence of ABAS was investigated at two sampling positions in the left adrenal vein, the central vein and the common trunk, without and with ACTH administration. Results The prevalence of ABAS with ACTH administration was significantly lower than that without ACTH administration [without ACTH vs with ACTH: 79/440 (18.0%) vs 45/591 (7.6%); P AVS regardless of the sampling position in the left adrenal vein was confirmed in the larger cohort. PMID:29687091

  13. Low-Dose Dexamethasone Therapy from Infancy of Virilizing Congenital Adrenal Hyperplasia

    Directory of Open Access Journals (Sweden)

    Scott A. Rivkees

    2009-01-01

    Full Text Available Objective. To assess the growth and control of adrenal androgen secretion in children with virilizing congenital adrenal hyperplasia (CAH treated with dexamethasone. Method. We examined doses used, control of adrenal androgen secretion, and growth and skeletal maturation of 8 children with CAH treated with dexamethasone beginning in infancy. Results. 3 boys and 5 girls with classical CAH (17-hydroxyprogesterone at diagnosis >20,000 ng/dL were treated with dexamethasone beginning at diagnosis (<10 days of age. Patients were also treated with fludrocortisone and sodium chloride. The average initial medication dose was 0.1 mg (0.28±0.015 mg/m2; all doses were given in the morning using a dosing syringe to administer a 0.1 mg/mL elixir. The children were treated for 6.5±2.0 years over which time the change in bone age to chronological age ratio (ΔBA/ΔCA was 0.9±0.06. Most recent height Z' scores were +0.5±0.2, and body mass index (BMI scores were 18±0.2. Late afternoon levels of 17-hydroxyprogesterone, androstenedione, and testosterone were 780±238 ng/dL (23.4±7 nmol/L, 42±10 ng/dL (1.4±0.3 nmol/L, and 11.5±3 ng/dL; (0.4±0.1 nmol/L, respectively. Conclusions. These observations show that low doses of dexamethasone can be used to effectively treat CAH beginning in infancy.

  14. Addison's disease due to bilateral post-traumatic adrenal haemorrhage: CT and MR findings

    International Nuclear Information System (INIS)

    Wilms, G.; Tits, J.; Vanstraelen, D.; Marchal, G.; Rigauts, H.; Baert, A.L.

    1991-01-01

    In a patient with Addison's disease, who gave a history of a severe car accident, CT showed bilateral enlargement of the adrenal glands. MRI, by demonstrating paramagnetic T1 shortening due to methaemoglobin and haemosiderin on T2-weighted images, confirmed the haemorrhagic nature of the lesions. (orig.)

  15. Beckwith-Wiedemann syndrome and bilateral adrenal pheochromocytoma: sonography and MRI findings

    Energy Technology Data Exchange (ETDEWEB)

    Baldisserotto, Matteo; Peletti, Adriana Barcellos; Araujo, Manoel Angelo de; Pertence, Ana Paula Cardoso; Dora, Marcelo Dourado; Maciel, Elines Oliva; Gaiger, Ana Maria [Hospital da Crianca Conceicao, Departamento de Radiologia, Porto Alegre, RS (Brazil)

    2005-11-01

    Beckwith-Wiedemann syndrome is characterized by a group of clinical abnormalities, the most frequent of which are omphalocele, macroglossia, gigantism, neonatal hypoglycemia and umbilical hernia. The association of this syndrome with malignant tumors is well documented. We report a child with this syndrome associated with bilateral adrenal pheochromocytoma. (orig.)

  16. Beckwith-Wiedemann syndrome and bilateral adrenal pheochromocytoma: sonography and MRI findings

    International Nuclear Information System (INIS)

    Baldisserotto, Matteo; Peletti, Adriana Barcellos; Araujo, Manoel Angelo de; Pertence, Ana Paula Cardoso; Dora, Marcelo Dourado; Maciel, Elines Oliva; Gaiger, Ana Maria

    2005-01-01

    Beckwith-Wiedemann syndrome is characterized by a group of clinical abnormalities, the most frequent of which are omphalocele, macroglossia, gigantism, neonatal hypoglycemia and umbilical hernia. The association of this syndrome with malignant tumors is well documented. We report a child with this syndrome associated with bilateral adrenal pheochromocytoma. (orig.)

  17. Radiologic Imaging Findings of Bilateral Infiltrating Pseudoangiomatous Stromal Hyperplasia of the Breasts:A Case Report

    Energy Technology Data Exchange (ETDEWEB)

    Go, Hee Sun; Jeh, Su Kyung [Dept. of Radiology, Kangnam Sacred Heart Hospital, College of Medicine, Hallym University, Seoul (Korea, Republic of)

    2013-04-15

    Pseudoangiomatous stromal hyperplasia (PASH), a rare benign lesion, shows the proliferation of the breast stromal tissue mimicking the low grade angiosarcoma (1-7). The most common mammographic and ultrasound finding of PASH is a circumscribed mass without calcification and it is difficult to distinguish from the phyllodes tumor and fibroadenoma (1-4, 8). Up to our knowledge, PASH presenting as rapid bilateral breast enlargement, as seen in our case, is very rare. In addition, several English medical literature were reported in this kind of manifestation of PASH (3, 4, 8). We described imaging findings of diffuse, infiltrating, and bilateral manifectation of PASH.

  18. Iatrogenic Cushing's Disease in a Boy after Misdiagnosis of Salt-Losing Virilizing Adrenal Hyperplasia: Impaired Metyrapone Response with Failure of Catch-Up Growth

    Science.gov (United States)

    Mendilaharzu, Hernan; And Others

    1973-01-01

    A boy misdiagnosed as having the sodium-losing form of virilizing adrenal hyperplasia was treated with large doses of glucocorticoids and mineralocorticoids from the newborn period until he was more than 4 years of age. (Author)

  19. Bilateral adrenal haemorrhage secondary to intra-abdominal sepsis: a case report.

    LENUS (Irish Health Repository)

    Egan, Aoife M

    2012-01-31

    INTRODUCTION: Bilateral adrenal haemorrhage is a rare cause of adrenal failure. Clinical features are non-specific and therefore a high index of suspicion must be maintained in patients at risk. Predisposing factors include infection, malignancy and the post-operative state. CASE PRESENTATION: We report the case of a patient who underwent a left hemicolectomy with primary anastomosis and formation of a defunctioning loop ileostomy for an obstructing colon carcinoma at the splenic flexure. En-bloc splenectomy was performed to ensure an oncologic resection. The patient developed a purulent abdominal collection post-operatively and became septic with hypotension and pyrexia. This precipitated acute bilateral adrenal haemorrhage with consequent adrenal insufficiency. Clinical suspicion was confirmed by radiological findings and a co-syntropin test. Following drainage of the collection, antibiotic therapy and corticosteroid replacement, the patient made an excellent recovery. CONCLUSION: This case highlights the importance of prompt diagnosis and treatment of adrenal failure. In their absence, this condition can rapidly lead to death of the patient.

  20. Early one-stage surgical reconstruction of the extremely high vagina in patients with congenital adrenal hyperplasia.

    Science.gov (United States)

    Donahoe, P K; Gustafson, M L

    1994-02-01

    High vaginal atresia is a very rare anomaly seen in the most severely masculinized females with congenital adrenal hyperplasia. These children have a foreshortened vagina conjoining the urogenital sinus proximal to the external urethral sphincter. In the past, they have undergone early clitoral recession and labioscrotal reduction, followed by vaginal pull-through at 2 to 4 years of age. Cumulative experience with repair of this anomaly has led us to attempt earlier one-stage intervention and to develop techniques that circumvent previously encountered vaginal stenoses. One-stage reconstruction of three older children (ages 2 to 9 years) involved: closure of the urethrovaginal fistula, mobilization of the vagina from the rectum and urethra, use of bilateral buttock flaps to augment the anterior vaginal wall, augmentation of the posterior wall with an inverted perineal U flap, clitoral recession, and advancement of labioscrotal and clitoral shaft flaps inferiorly to create labia majora and minora (respectively). The introiti were quite capacious after employing such flaps, did not require postoperative dilatation, and were free of strictures or urethrovaginal fistulae during long-term follow-up. Three younger patients were seen for initial evaluation at 8 to 12 months of age, when early one-stage reconstruction was undertaken. Paradoxically, these repairs were technically less difficult and did not require buttock flap augmentation because an island of anterior perineal skin could be rotated in to reach the anterior vaginal wall. A nerve stimulator was used to identify the external urethral sphincter, while the vagina was aggressively mobilized and advanced forward beyond the site of fistula closure on the urethra to avert formation of a urethro-vaginal fistula.2 +

  1. Steroid abnormalities and the developing brain: Declarative memory for emotionally arousing and neutral material in children with congenital adrenal hyperplasia

    OpenAIRE

    Maheu, Françoise S.; Merke, Deborah P.; Schroth, Elizabeth A.; Keil, Margaret F.; Hardin, Julie; Poeth, Kaitlin; Pine, Daniel S.; Ernst, Monique

    2007-01-01

    Steroid hormones modulate memory in animals and human adults. Little is known on the developmental effect of these hormones on the neural networks underlying memory. Using Congenital Adrenal Hyperplasia (CAH) as a naturalistic model of early steroid abnormalities, this study examines the consequences of CAH on memory and its neural correlates for emotionally arousing and neutral material in children. Seventeen patients with CAH and 17 age- and sex-matched healthy children (ages 12 to 14 years...

  2. Urosepsis in infants with vesicoureteral reflux masquerading as the salt-losing type of congenital adrenal hyperplasia

    International Nuclear Information System (INIS)

    Vaid, Y.N.; Lebowitz, R.L.

    1989-01-01

    Three male infants with vomiting, dehydration, hyponatremia, hyperkalemia and metabolic acidosis were found to have vesicoureteral reflux (VUR) and urinary tract infection. Two were initially thought to have the salt-losing form of congenital adrenal hyperplasia. Although prompt diagnosis of this potentially fatal condition is critical, its mimicry by urosepsis in infants with VUR is actually more common. Infection probably causes unresponsiveness of the distal renal tubules to aldoterone. (orig.)

  3. Congenital adrenal hyperplasia: review from a surgeon´s perspective in the beginning of the 21 st. century

    Directory of Open Access Journals (Sweden)

    LISANDRO ARIEL PIAGGIO

    2014-01-01

    Full Text Available Congenital adrenal hyperplasia (CAH most commonly due to 21-hydroxylase deficiency (21OHD is the most common type of disorder of sex development. This review will focus on CAH addressing historical and current surgical techniques with their anatomical foundations, with special attention to long term results and outcomes on sexual function, patient satisfaction, patient attitude towards surgery, and ongoing controversies in management of these patients.

  4. Motor development in individuals with congenital adrenal hyperplasia: strength, targeting, and fine motor skill.

    Science.gov (United States)

    Collaer, Marcia L; Brook, Charles G D; Conway, Gerard S; Hindmarsh, Peter C; Hines, Melissa

    2009-02-01

    This study investigated early androgen influence on the development of human motor and visuomotor characteristics. Participants, ages 12-45 years, were individuals with congenital adrenal hyperplasia (CAH), a disorder causing increased adrenal androgen production before birth (40 females, 29 males) and their unaffected relatives (29 females, 30 males). We investigated grip strength and visuomotor targeting tasks on which males generally outperform females, and fine motor pegboard tasks on which females generally outperform males. Physical characteristics (height and weight) were measured to explore whether body parameters could explain differences in motor skills. Females with CAH were stronger and showed better targeting than unaffected females and showed reduced fine visuomotor skill on one pegboard measure, with no difference on the other. Males with CAH were weaker than unaffected males in grip strength but did not differ on the targeting or pegboard measures. Correction for body size could not explain the findings for females, but suggests that the reduced strength of males with CAH may relate to their smaller stature. Further, the targeting advantage in females with CAH persisted following adjustment for their greater strength. Results in females support the hypothesis that androgen may masculinize, or promote, certain motor characteristics at which males excel, and contribute to defeminization of certain fine motor characteristics at which females excel. Thus, these data suggest that organizational effects of androgens on behavior during prenatal life may extend to motor characteristics and may contribute to general sex differences in motor-related behaviors; however, alternative explanations based on activational influences of androgen or altered experiential factors cannot be excluded without further study.

  5. Gender role across development in adult women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

    Science.gov (United States)

    Long, Dominique N; Wisniewski, Amy B; Migeon, Claude J

    2004-10-01

    This study evaluated the degree of femininity and masculinity at different developmental stages in a group of adult women, some of whom were exposed to elevated prenatal adrenal androgens as a result of congenital adrenal hyperplasia (CAH) due to 21 hydroxylase (21-OH) deficiency. Women who had presented to the Johns Hopkins Hospital Pediatric Endocrine Clinic for treatment of CAH due to 21-OH deficiency were included. The control group consisted of sisters of CAH participants and women referred for evaluation of polycystic ovary syndrome. Study participants were given a questionnaire asking them to indicate their degree of masculinity and femininity during childhood, adolescence, and adulthood. In addition, participants were asked questions related to their play behavior during childhood, including playmate preferences, toy preferences, and admiration of male or female characters during fantasy play. Across participant groups, self-reported femininity decreased in a dose response manner, according to prenatal androgen exposure. For all groups, femininity increased through developmental stages. Women with salt-losing CAH remained less feminine than controls into adulthood. Conversely, self-reported masculinity increased in a dose-response manner, according to prenatal androgen exposure, across participant groups. Women with CAH showed a decrease in masculinity across developmental stages, such that by adulthood, there were no significant differences in masculinity between controls and the women with CAH. Women with salt-losing CAH were more likely to recall preferences for boy playmates, male-typical toys, and admiration for male characters during childhood than other study participants. Our data support the effect of both prenatal androgen exposure and socialization on gender role behavior in adult women with CAH due to 21-OH deficiency.

  6. Pitfalls in molecular diagnosis of 21-hydroxylase deficiency in congenital adrenal hyperplasia.

    Science.gov (United States)

    Kolahdouz, Mahsa; Mohammadi, Zahra; Kolahdouz, Parisa; Tajamolian, Masoud; Khanahmad, Hossein

    2015-01-01

    Congenital adrenal hyperplasia (CAH) is a putative error of metabolism with autosomal recessive heredity pattern. The main manifestations of classic form of CAH are salt-wasting, dehydration and simple virilization in both sexes and ambiguous genitalia in female gender. 21-hyroxylase (CYP21A2) impairment with prevalence value of 1 in 10,000-15,000 live births is the most common etiology of CAH. Because of consanguineous marriages, the frequency of the CAH in Iran is very high. A wide range of mutations diversity exists in CYP21A2 gene and a large number of these mutations derived from a highly homologous pseudogene, CYP21A1P, through gene conversion. In addition, new mutations such as small and large deletion and point mutations can also result in enzyme deficiency. Various methods for mutation detection were performed. The main obstacle in molecular diagnosis of CAH is amplification of pseudogene during polymerase chain reaction of CYP21A2. All attempts focus on discrimination of pseudogene from gene; that is why, there is the majority of mutations on pseudogene, and if we have contamination with the pseudogene, the result will be unreliable. Here, we discuss this methods and advantage and disadvantage of those.

  7. Ehlers-Danlos Syndrome Caused by Biallelic TNXB Variants in Patients with Congenital Adrenal Hyperplasia.

    Science.gov (United States)

    Chen, Wuyan; Perritt, Ashley F; Morissette, Rachel; Dreiling, Jennifer L; Bohn, Markus-Frederik; Mallappa, Ashwini; Xu, Zhi; Quezado, Martha; Merke, Deborah P

    2016-09-01

    Some variants that cause autosomal-recessive congenital adrenal hyperplasia (CAH) also cause hypermobility type Ehlers-Danlos syndrome (EDS) due to the monoallelic presence of a chimera disrupting two flanking genes: CYP21A2, encoding 21-hydroxylase, necessary for cortisol and aldosterone biosynthesis, and TNXB, encoding tenascin-X, an extracellular matrix protein. Two types of CAH tenascin-X (CAH-X) chimeras have been described with a total deletion of CYP21A2 and characteristic TNXB variants. CAH-X CH-1 has a TNXB exon 35 120-bp deletion resulting in haploinsufficiency, and CAH-X CH-2 has a TNXB exon 40 c.12174C>G (p.Cys4058Trp) variant resulting in a dominant-negative effect. We present here three patients with biallelic CAH-X and identify a novel dominant-negative chimera termed CAH-X CH-3. Compared with monoallelic CAH-X, biallelic CAH-X results in a more severe phenotype with skin features characteristic of classical EDS. We present evidence for disrupted tenascin-X function and computational data linking the type of TNXB variant to disease severity. © 2016 WILEY PERIODICALS, INC.

  8. Association of leptin with cardiometabolic factors in schoolchildren and adolescents with congenital adrenal hyperplasia.

    Science.gov (United States)

    Zurita-Cruz, Jessie Nallely; Villasís-Keever, Miguel Ángel; Damasio-Santana, Leticia; Manuel-Apolinar, Leticia; Ferrusca-Ceja, Rosalba; Nishimura-Meguro, Elisa; Rivera-Hernández, Aleida de J; Garrido-Magaña, Eulalia

    2018-01-01

    In congenital adrenal hyperplasia (CAH), obesity, hyperinsulinemia and leptin levels are increased. To identify the frequency of cardiometabolic risk factors (CRF) in children and adolescents with CAH and to explore the relationship with leptin levels. Cross-sectional study of 40 patients who underwent anthropometric measurements and had fasting glucose, insulin, triglycerides, 17-hidroxyprogesterone, leptin, HDL and LDL-cholesterol assessed. The patients were classified according to the number of CRFs, and leptin levels were analyzed with the Kruskal-Wallis test. Pearson's correlation was applied between leptin, body mass index (BMI) z-score and body fat percentage. Fifty percent of the patients had obesity and overweight, 59% had hypertriglyceridemia, 40%, hypoalphalipoproteinemia, 27.5%, high LDL-cholesterol and 22.5% insulin resistance. There was positive correlation between leptin and body fat percentage (r = 0.64), BMI z-score (r = 0.55) and the number of CRFs (r = 0.65). In the obesity-adjusted multivariate analysis, leptin levels were associated with the number of CRFs. CAH had a high frequency of CRFs and leptin appeared to be associated with a more adverse cardiometabolic profile in subjects with obesity and overweight. Copyright: © 2018 SecretarÍa de Salud.

  9. LIPOPOLYSACCHARIDE INDUCES THE PRODUCTION OF DIAGNOSTIC MONOCLONAL ANTIBODY BY HYBRIDOMA CELLS AGAINST CONGENITAL ADRENAL HYPERPLASIA

    Directory of Open Access Journals (Sweden)

    GEK KEE CHUA

    2017-11-01

    Full Text Available The purpose of this research is to screen and identify the potential inducers in maximizing the production of monoclonal antibody by hybridoma 192 cell line for Congenital Adrenal Hyperplasia diagnostic. There are nine inducers used in this research, namely lysozyme, aldolase, sodium butyrate, sodium phosphate, potassium phosphate, dimethyl sulfoxide, lipopolysaccharide, essential amino acids, and nonessential amino acids. Hybridoma 192 cell was cultured in 5% CO2 incubator at 37°C and ˃80% humidity in the medium with different concentrations of inducer agents. The inducers were added at the beginning of the culture and the samples were taken after 72 h of culture. The performance of these inducer agents was assessed based on the maximum monoclonal antibody titer achieved using Enzyme-linked Immunosorbent Assay. Lipopolysaccharide was found to increase the maximum monoclonal antibody titer when supplemented at 8 to 12 µg/mL. After optimization using one-factor central composite design at this range, the optimum point was determined to be 8 µg/mL. Verification experiments shows that lipopolysaccharide enhanced the average specific monoclonal antibody production rate by 56% relative to control. In conclusion, lipopolysaccharide at 8 µg/mL is able to increase the monoclonal antibody specific production of hybridoma 192 cell line.

  10. Pathological manifestation of difference in washout pattern of adrenal hyperplasia on dynamic CT

    International Nuclear Information System (INIS)

    Nishie, Akihiro; Asayama, Yoshiki; Ishigami, Kousei

    2014-01-01

    The relationship between the washout pattern and constituent cell in adrenal hyperplasia (AH) has not been fully investigated. The purpose of this study was to elucidate the radiological or pathological factors determining the washout pattern of AH on dynamic CT. Ten patients with 14 surgically proven AHs were enrolled. Dynamic CT was scanned before (pre-contrast image) and 60 seconds (early phase) and 240 seconds (delayed phase) after administration of iodine contrast. The absolute percentage washout (APW) of each nodular lesion was calculated using the following formula: APW(%)=(TAearly-TAdelay) / (TAearly-TApre)×100, when TApre, TAearly and TAdelay were defined as tumour attenuation values of pre-contrast, early and delayed phases, respectively. Pathologically, the clear cell ratio (CCR) constituting each nodular lesion was qualitatively assessed. Regression analysis was performed to evaluate a correlation between each pair of CCR, TApre, (TAearly-TAdelay) and APW. There was a significant correlation between each pair of CCR, TApre and APW. CCR decreased as TApre increased (r=0.81, P<0.001). APW increased as CCR decreased r=0.80, P<0.001) or as TApre increased (r=0.74, P<0.01). The key factors of washout pattern of AH on dynamic CT were CCR and TApre. The difference in constituent cell was associated with variability in APW of AH.

  11. Neuropsychological assessment in prepubertal patients with congenital adrenal hyperplasia: preliminary study.

    Science.gov (United States)

    Somajni, F; Sovera, V; Albizzati, A; Russo, G; Peroni, P; Seragni, G; Lenti, C

    2011-02-01

    Individuals with congenital adrenal hyperplasia (CAH) provide a test population for the theory that elevated testosterone levels alter pre-/perinatal brain development. Seven prepuberal girls with CAH and seven matched controls has been submitted to a neuropsychological evaluation. We measured abilities where gender differences repeatedly has been observed or that had earlier shown differences between CAH subjects and controls. The following cognitive functions were tested: general intelligence, attention, verbal and non-verbal abilities, cerebral dominance for verbal and non-verbal material, frontal functions, peripheral dominance and motor fluency. Since several animal studies shown hippocampal morphological changes induced by prolonged hydrocortisone exposure, we also investigated memory functions. No differences were recorded between two groups on those abilities that are not sexually dimorphic. The mean general intelligence level of the patients was significantly lower than the controls', in agreement with previous studies. The verbal and non-verbal tasks revealed an age-related male-like pattern (i.e., verbal disadvantage) and an inversion of the hemispheric dominances. The latter observation was supported by a right-to-left shift of the peripheral dominances. The patients memory performances were all inferior to the controls'. The results are discussed in the light of possible hormonal influences. Our main findings support the hypothesis that elevated pre-/perinatal androgen exposure can influence some cognitive pattern of specific sexual dimorphic abilities in prepubertal subjects.

  12. Prevalence of Nonclassic Congenital Adrenal Hyperplasia in Turkish Children Presenting with Premature Pubarche, Hirsutism, or Oligomenorrhoea

    Directory of Open Access Journals (Sweden)

    Cigdem Binay

    2014-01-01

    Full Text Available Background. Nonclassic congenital adrenal hyperplasia (NCAH, caused by mutations in the gene encoding 21-hydroxylase, is a common autosomal recessive disorder. In the present work, our aim was to determine the prevalence of NCAH presenting as premature pubarche (PP, hirsutism, or polycystic ovarian syndrome (PCOS and to evaluate the molecular spectrum of CYP21A2 mutations in NCAH patients. Methods. A total of 126 patients (122 females, 4 males with PP, hirsutism, or PCOS were included in the present study. All patients underwent an ACTH stimulation test. NCAH was considered to be present when the stimulated 17-hydroxyprogesterone plasma level was >10 ng/mL. Results. Seventy-one of the 126 patients (56% presented with PP, 29 (23% with PCOS, and 26 (21% with hirsutism. Six patients (4,7% were diagnosed with NCAH based on mutational analysis. Four different mutations (Q318X, P30L, V281L, and P453S were found in six NCAH patients. One patient with NCAH was a compound heterozygote for this mutation, and five were heterozygous. Conclusion. NCAH should be considered as a differential diagnosis in patients presenting with PP, hirsutism, and PCOS, especially in countries in which consanguineous marriages are prevalent.

  13. Stigma Associated with Classical Congenital Adrenal Hyperplasia in Women's Sexual Lives.

    Science.gov (United States)

    Meyer-Bahlburg, Heino F L; Khuri, Jananne; Reyes-Portillo, Jazmin; Ehrhardt, Anke A; New, Maria I

    2018-05-01

    The risk of intersex-related stigma often serves as social indication for "corrective" genital surgery, but has not been comprehensively documented. In preparation for the development of an intersex-specific stigma assessment tool, this qualitative project aimed to explore stigma in girls and women with classical congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency. As part of a comprehensive follow-up project, 62 adult women with classical CAH (age range 18-51 years) took part in an open-ended retrospective interview focusing on the impact of CAH and its treatment on various aspects of girls' and women's lives. Deductive qualitative content analysis (Patton, 2014) of de-identified transcripts involved categorization of three types of stigma: experienced, anticipated, and internalized. Two-fifths of the participants reported CAH-related stigma in romantic/sexual situations. Stigma enactment by romantic partners occurred in reaction to both genital and non-genital sex-atypical features of CAH and sometimes included explicit questioning of the women's true gender. Stigma anticipation by the women and their related avoidance of nudity, genital exposure, and romantic involvement altogether were frequent. Internalization of stigma occurred as well. In conclusion, the data suggest that many women with CAH experience, anticipate, and/or internalize intersex-related stigma in the context of their romantic/sexual lives.

  14. Clinical, genetic, and structural basis of congenital adrenal hyperplasia due to 11β-hydroxylase deficiency.

    Science.gov (United States)

    Khattab, Ahmed; Haider, Shozeb; Kumar, Ameet; Dhawan, Samarth; Alam, Dauood; Romero, Raquel; Burns, James; Li, Di; Estatico, Jessica; Rahi, Simran; Fatima, Saleel; Alzahrani, Ali; Hafez, Mona; Musa, Noha; Razzghy Azar, Maryam; Khaloul, Najoua; Gribaa, Moez; Saad, Ali; Charfeddine, Ilhem Ben; Bilharinho de Mendonça, Berenice; Belgorosky, Alicia; Dumic, Katja; Dumic, Miroslav; Aisenberg, Javier; Kandemir, Nurgun; Alikasifoglu, Ayfer; Ozon, Alev; Gonc, Nazli; Cheng, Tina; Kuhnle-Krahl, Ursula; Cappa, Marco; Holterhus, Paul-Martin; Nour, Munier A; Pacaud, Daniele; Holtzman, Assaf; Li, Sun; Zaidi, Mone; Yuen, Tony; New, Maria I

    2017-03-07

    Congenital adrenal hyperplasia (CAH), resulting from mutations in CYP11B1 , a gene encoding 11β-hydroxylase, represents a rare autosomal recessive Mendelian disorder of aberrant sex steroid production. Unlike CAH caused by 21-hydroxylase deficiency, the disease is far more common in the Middle East and North Africa, where consanguinity is common often resulting in identical mutations. Clinically, affected female newborns are profoundly virilized (Prader score of 4/5), and both genders display significantly advanced bone ages and are oftentimes hypertensive. We find that 11-deoxycortisol, not frequently measured, is the most robust biochemical marker for diagnosing 11β-hydroxylase deficiency. Finally, computational modeling of 25 missense mutations of CYP11B1 revealed that specific modifications in the heme-binding (R374W and R448C) or substrate-binding (W116C) site of 11β-hydroxylase, or alterations in its stability (L299P and G267S), may predict severe disease. Thus, we report clinical, genetic, hormonal, and structural effects of CYP11B1 gene mutations in the largest international cohort of 108 patients with steroid 11β-hydroxylase deficiency CAH.

  15. Newborn screening for congenital adrenal hyperplasia in Cuba: six years of experience.

    Science.gov (United States)

    González, Ernesto Carlos; Carvajal, Frank; Frómeta, Amarilys; Arteaga, Ana Luisa; Castells, Elisa María; Espinosa, Tania; Coto, Remigio; Pérez, Pedro Lucio; Tejeda, Yileidis; Del Río, Lesley; Segura, Mary Triny; Almenares, Pedro; Robaina, René; Fernández, José Luis

    2013-06-05

    Since 2005, a newborn screening program for congenital adrenal hyperplasia (CAH) by measuring 17-alpha-hydroxyprogesterone (17OHP) in dried blood spots was introduced in Cuba. The hormone was measured by the 17OHP Neonatal UMELISA method, in samples collected on the 5th day as average. Confirmatory test was performed to those neonates with 17OHP values above 55 nmol/l. Some perinatal factors that can influence on 17OHP levels were studied. From January 2005 to December 2010, 621,303 newborns were screened and 39 CAH cases were detected. Coverage of the program reached 98%. The incidence of CAH in Cuba was 1:15,931, similar to that reported by other programs. A recall for suspected CAH was performed in 10,799 cases (1.74%). Therapy in classical CAH patients was started at the mean age of 22 days. 17OHP levels were significantly higher in newborns with lower birth-weight (BW) and/or gestational age (GA). In addition, 17OHP values were affected by the gender, twin status or mode of delivery. In Cuba, the nationwide newborn screening program has allowed the early detection of CAH. The use of an optimized cut-off level for BW or GA could lead to a reduction in the percentage of recalled babies. Copyright © 2013 Elsevier B.V. All rights reserved.

  16. Congenital adrenal hyperplasia: a case report with premature teeth exfoliation and bone resorption.

    Science.gov (United States)

    Angelopoulou, Matina V; Kontogiorgos, Elias; Emmanouil, Dimitris

    2015-06-01

    Congenital adrenal hyperplasia (CAH) is an inherited autosomal recessive disorder characterized by insufficient production of cortisol. The aim of this case report was to present a child with CAH, premature exfoliation of primary teeth and accelerated eruption of his permanent teeth related to bone resorption. A 4.5-year-old Caucasian boy with CAH and long-term administration of glucocorticoids was referred for dental restoration. Clinical examination revealed primary molars with worn stainless steel crowns, severe attrition of the upper canines, and absence of the upper incisors. Before the completion of treatment, abnormal mobility of the first upper primary molars and the lower incisors was detected, and a few days later the teeth exfoliated prematurely. Histologic examination revealed normal tooth structure. Alkaline phosphatase and blood cells values were normal. Eruption of the permanent dentition was also accelerated. Tooth mobility was noticed in the permanent teeth as soon as they erupted, along with bone destruction. Examination revealed an elevated level of receptor activator of nuclear factor-κB ligand and lower-than-normal osteoprotegerin and vitamin D levels. The patient was treated with vitamin D supplements, and his teeth have been stable ever since. CAH is a serious chronic disorder appearing in children with accelerated dental development and possibly premature loss of primary teeth. Copyright © 2015 by the American Academy of Pediatrics.

  17. Bilateral adrenal haemorrhage associated with heparin-induced thrombocytopaenia during treatment of Fournier gangrene.

    Science.gov (United States)

    Tattersall, Timothy Lee; Thangasamy, Isaac A; Reynolds, Jamie

    2014-10-14

    We present a case of bilateral adrenal haemorrhage (BAH) associated with heparin-induced thrombocytopaenia (HIT) in a 61-year-old man admitted to hospital for the treatment of Fournier's gangrene. He presented to hospital with scrotal swelling and fever, and developed spreading erythaema and a gangrenous scrotum. His scrotum was surgically debrided and intravenous broad-spectrum antibiotics were administered. Unfractionated heparin was given postoperatively for venous thromboembolism prophylaxis. The patient deteriorated clinically 8-11 days postoperatively with delirium, chest pain and severe hypertension followed by hypotension and thrombocytopaenia. Abdominal CT scan revealed bilateral adrenal haemorrhage. Antibodies to the heparin-platelet factor 4 complex were present. HIT-associated BAH was diagnosed and heparin was discontinued. Intravenous bivalirudin and hydrocortisone were started, with rapid improvement in clinical status. BAH is a rare complication of HIT and should be considered in the postoperative patient with unexplained clinical deterioration. 2014 BMJ Publishing Group Ltd.

  18. Hiperplasia adrenal congénita clásica: Tratamiento médico y quirúrgico Congenital clasic adrenal hyperplasia: Medical and surgical treatment

    Directory of Open Access Journals (Sweden)

    José Raúl Zaldívar Ochoa

    Full Text Available Se presenta el caso clínico de una infante de 2 años de edad que nació con genitales ambiguos y fue diagnosticada precozmente en el Hospital Infantil Norte Docente "Juan de la Cruz Martínez Maceira", gracias al Programa de Hiperplasia Adrenal Congénita. Se le realizó una exitosa reconstrucción quirúrgica hacia el sexo femenino y se brindó apoyo psicológico a la familia.The case report of a 2 year-old infant girl is presented who was born with ambiguous genitals and she was early diagnosed at "Juan de la Cruz Martínez Maceira" Teaching Nothern Pediatric Hospital, thanks to the Congenital Adrenal Hyperplasia Program. She had a successful surgical reconstruction to the female sex and her family received psychological support.

  19. Bone mineral density in young adult women with congenital adrenal hyperplasia

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    Nishant Raizada

    2016-01-01

    Full Text Available Background: There is equipoise regarding the status of bone mineral density (BMD in patients with congenital adrenal hyperplasia (CAH, where patients need to be on long-term low-dose steroids. Objective: We aimed to evaluate BMD at the hip, spine and forearm in women with CAH and compare it to healthy young adult women of the same age range. Subjects and Methods: Fifteen adult women with CAH with age ranging from 18 to 40 years (mean ± standard deviation = 27.5 ± 6.2 years underwent dual-energy X-ray absorptiometry along with laboratory evaluation. BMD at lumbar spine, hip, forearm along with T-scores were measured. Serum total calcium, phosphate, alkaline phosphatase, 25 hydroxy Vitamin D, intact parathyroid hormone, total testosterone, and dehydroepiandrosterone were assayed. History of any fractures in the past was taken. Fifteen healthy women in the same age range were taken as controls for comparison. Results: The BMD at hip (0.85 ± 0.02 g/cm2 in CAH was significantly lower as compared with controls (0.92 ± 0.03 g/cm2, P = 0.029. BMD at lumbar spine was also reduced (0.96 ± 0.02 vs. 1.03 ± 0.03, P = 0.057. The BMD at forearm was not significantly different between CAH and controls. The mean Vitamin D was 9.8 ng/ml (deficient range. There was no history of fractures in CAH. Conclusion: Young adult CAH women had lower BMD at spine and hip than healthy young adult women of the same age range. The forearm BMD was not different from controls. No change in fracture frequency was present. Patients with CAH being treated with steroids are at increased risk of osteopenia, and their bone health needs to be monitored.

  20. A three-year follow-up of congenital adrenal hyperplasia newborn screening.

    Science.gov (United States)

    Pezzuti, Isabela L; Barra, Cristina B; Mantovani, Rafael M; Januário, José N; Silva, Ivani N

    2014-01-01

    congenital adrenal hyperplasia (CAH) newborn screening can prevent neonatal mortality in children with the salt-wasting form of the disease and prevent incorrect gender assignments, which can occur in females. However, the occurrence of false-positive results in preterm or low-birth-weight newborns creates some diagnostic difficulties, with consequent therapeutic implications. This study aimed to report the results of a pilot project for neonatal CAH screening conducted in the state of Minas Gerais, Brazil from 09/2007 to 05/2008 with a three-year follow-up. dried blood specimens were collected on filter paper cards three to seven days after birth of all newborns in the period. Samples were analyzed for 17-hydroxyprogesterone using an enzyme-linked immunosorbent assay (ELISA). a total of 159,415 children were screened. The apparent incidence of the classic variant of the disease was 1:9,963, based on initial diagnoses following newborn screening. During the follow-up period, eight of 16 children initially diagnosed with CAH were reclassified as unaffected, resulting in a revised incidence of 1:19,927. The false-positive rate was 0.31%, and the positive predictive value was 2.1%. Sensitivity and specificity were 100% and 99.7%, respectively. newborn screening is an important public health policy in developing countries such as Brazil, where CAH remains underdiagnosed. It has great potential to identify children with the disease who otherwise cannot be diagnosed earlier. Long-term follow-up and monitoring of all children with positive screening results are crucial to ensure a correct diagnosis and to calculate a reliable incidence ratio of the disease. Copyright © 2014 Sociedade Brasileira de Pediatria. Published by Elsevier Editora Ltda. All rights reserved.

  1. Gender of rearing and psychosocial aspect in 46 XX congenital adrenal hyperplasia.

    Science.gov (United States)

    Gangaher, Arushi; Jyotsna, Viveka P; Chauhan, Vasundhera; John, Jomimol; Mehta, Manju

    2016-01-01

    In congenital adrenal hyperplasia (CAH) with ambiguous genitalia, assigning gender of rearing can be complex, especially If genitalia is highly virilized. Apart from karyotype, prenatal androgen exposure, patient's gender orientation, sociocultural, and parental influences play a role. The aim of this study was to assess gender dysphoria and psychosocial issues in patients of CAH raised as males and females. This is a cross-sectional study that includes patients (old and new) with CAH who were treated by us in the last 6 months. A semi-structured interview proforma was used to elicit history and psychosocial background of the patients. The clinical and biochemical details were noted. For psychological analysis, patients were screened for gender dysphoria using Parent Report Gender Identity Questionnaire for children Gender Identity/Gender Dysphoria Questionnaire for Adolescents and Adults. We analyzed 22 46 XX CAH patients among which, 3 were reared as males and 19 as females. Among the 19 patients reared as females, 17 patients showed no gender dysphoria. Two patients revealed gender dysphoria as indicated by their marginally low scores on the gender dysphoria assessment. However, in view of current literature and the age groups of the patients, behavior of the 6-year-old patient can be best understood as being tomboyish. Gender dysphoria in the 22-year-old can be explained by the dominance of psychosocial factors and not hormones alone. Among the three patients reared as males, two prepubertal were satisfied with their male gender identity. The third patient, aged 32 years, had gender dysphoria when reared as a male that resolved when gender was reassigned as female and feminizing surgery was done. Gender assignment in 46 XX CAH is guided by factors such as degree of virilization of genitalia, gender orientation, patient involvement, sociocultural, and parental influences.

  2. Ethnic disparity in 21-hydroxylase gene mutations identified in Pakistani congenital adrenal hyperplasia patients

    Directory of Open Access Journals (Sweden)

    Jabbar Abdul

    2011-02-01

    Full Text Available Abstract Background Congenital adrenal hyperplasia (CAH is a group of autosomal recessive disorders caused by defects in the steroid 21 hydroxylase gene (CYP21A2. We studied the spectrum of mutations in CYP21A2 gene in a multi-ethnic population in Pakistan to explore the genetics of CAH. Methods A cross sectional study was conducted for the identification of mutations CYP21A2 and their phenotypic associations in CAH using ARMS-PCR assay. Results Overall, 29 patients were analyzed for nine different mutations. The group consisted of two major forms of CAH including 17 salt wasters and 12 simple virilizers. There were 14 phenotypic males and 15 females representing all the major ethnic groups of Pakistan. Parental consanguinity was reported in 65% cases and was equally distributed in the major ethnic groups. Among 58 chromosomes analyzed, mutations were identified in 45 (78.6% chromosomes. The most frequent mutation was I2 splice (27% followed by Ile173Asn (26%, Arg 357 Trp (19%, Gln319stop, 16% and Leu308InsT (12%, whereas Val282Leu was not observed in this study. Homozygosity was seen in 44% and heterozygosity in 34% cases. I2 splice mutation was found to be associated with SW in the homozygous. The Ile173Asn mutation was identified in both SW and SV forms. Moreover, Arg357Trp manifested SW in compound heterozygous state. Conclusion Our study showed that CAH exists in our population with ethnic difference in the prevalence of mutations examined.

  3. Influence of hormonal control on LH pulsatility and secretion in women with classical congenital adrenal hyperplasia.

    Science.gov (United States)

    Bachelot, Anne; Chakhtoura, Zeina; Plu-Bureau, Geneviève; Coudert, Mathieu; Coussieu, Christiane; Badachi, Yasmina; Dulon, Jérome; Charbit, Beny; Touraine, Philippe

    2012-10-01

    Women with classical congenital adrenal hyperplasia (CAH) exhibit reduced fertility due to several factors including anovulation. This has been attributed to a disturbed gonadotropic axis as in polycystic ovary syndrome (PCOS), but there is no precise evaluation. Our aim was to evaluate the gonadotropic axis and LH pulsatility patterns and to determine factor(s) that could account for the potential abnormality of LH pulsatility. Case/control study. Sixteen CAH women (11 with the salt-wasting form and five with the simple virilizing form), aged from 18 to 40 years, and 16 age-matched women, with regular menstrual cycles (28 ± 3 days), were included. LH pulse patterns over 6 h were determined in patients and controls. No differences were observed between patients and controls in terms of mean LH levels, LH pulse amplitude, or LH frequency. In CAH patients, LH pulsatility patterns were heterogeneous, leading us to perform a clustering analysis of LH data, resulting in a two-cluster partition. Patients in cluster 1 had similar LH pulsatility patterns to the controls. Patients in cluster 2 had: lower LH pulse amplitude and frequency and presented menstrual cycle disturbances more frequently; higher 17-OH progesterone, testosterone, progesterone, and androstenedione levels; and lower FSH levels. LH pulsatility may be normal in CAH women well controlled by hormonal treatment. Undertreatment is responsible for hypogonadotropic hypogonadism, with low LH pulse levels and frequency, but not PCOS. Suppression of progesterone and androgen concentrations during the follicular phase of the menstrual cycle should be a major objective in these patients.

  4. Gender of rearing and psychosocial aspect in 46 XX congenital adrenal hyperplasia

    Directory of Open Access Journals (Sweden)

    Arushi Gangaher

    2016-01-01

    Full Text Available Background: In congenital adrenal hyperplasia (CAH with ambiguous genitalia, assigning gender of rearing can be complex, especially If genitalia is highly virilized. Apart from karyotype, prenatal androgen exposure, patient's gender orientation, sociocultural, and parental influences play a role. The aim of this study was to assess gender dysphoria and psychosocial issues in patients of CAH raised as males and females. Materials and Methods: This is a cross-sectional study that includes patients (old and new with CAH who were treated by us in the last 6 months. A semi-structured interview proforma was used to elicit history and psychosocial background of the patients. The clinical and biochemical details were noted. For psychological analysis, patients were screened for gender dysphoria using Parent Report Gender Identity Questionnaire for children <12 years and Gender Identity/Gender Dysphoria Questionnaire for Adolescents and Adults. Results: We analyzed 22 46 XX CAH patients among which, 3 were reared as males and 19 as females. Among the 19 patients reared as females, 17 patients showed no gender dysphoria. Two patients revealed gender dysphoria as indicated by their marginally low scores on the gender dysphoria assessment. However, in view of current literature and the age groups of the patients, behavior of the 6-year-old patient can be best understood as being tomboyish. Gender dysphoria in the 22-year-old can be explained by the dominance of psychosocial factors and not hormones alone. Among the three patients reared as males, two prepubertal were satisfied with their male gender identity. The third patient, aged 32 years, had gender dysphoria when reared as a male that resolved when gender was reassigned as female and feminizing surgery was done. Conclusion: Gender assignment in 46 XX CAH is guided by factors such as degree of virilization of genitalia, gender orientation, patient involvement, sociocultural, and parental influences.

  5. Noninvasive Prenatal Diagnosis of Congenital Adrenal Hyperplasia Using Cell-Free Fetal DNA in Maternal Plasma

    Science.gov (United States)

    Tong, Yu K.; Yuen, Tony; Jiang, Peiyong; Pina, Christian; Chan, K. C. Allen; Khattab, Ahmed; Liao, Gary J. W.; Yau, Mabel; Kim, Se-Min; Chiu, Rossa W. K.; Sun, Li; Zaidi, Mone

    2014-01-01

    Context: Congenital adrenal hyperplasia (CAH) is an autosomal recessive condition that arises from mutations in CYP21A2 gene, which encodes for the steroidogenic enzyme 21-hydroxylase. To prevent genital ambiguity in affected female fetuses, prenatal treatment with dexamethasone must begin on or before gestational week 9. Currently used chorionic villus sampling and amniocentesis provide genetic results at approximately 14 weeks of gestation at the earliest. This means that mothers who want to undergo prenatal dexamethasone treatment will be unnecessarily treating seven of eight fetuses (males and three of four unaffected females), emphasizing the desirability of earlier genetic diagnosis in utero. Objective: The objective of the study was to develop a noninvasive method for early prenatal diagnosis of fetuses at risk for CAH. Patients: Fourteen families, each with a proband affected by phenotypically classical CAH, were recruited. Design: Cell-free fetal DNA was obtained from 3.6 mL of maternal plasma. Using hybridization probes designed to capture a 6-Mb region flanking CYP21A2, targeted massively parallel sequencing (MPS) was performed to analyze genomic DNA samples from parents and proband to determine parental haplotypes. Plasma DNA from pregnant mothers also underwent targeted MPS to deduce fetal inheritance of parental haplotypes. Results: In all 14 families, the fetal CAH status was correctly deduced by targeted MPS of DNA in maternal plasma, as early as 5 weeks 6 days of gestation. Conclusions: MPS on 3.6 mL plasma from pregnant mothers could potentially provide the diagnosis of CAH, noninvasively, before the ninth week of gestation. Only affected female fetuses will thus be treated. Our strategy represents a generic approach for noninvasive prenatal testing for an array of autosomal recessive disorders. PMID:24606108

  6. Long term outcomes in 46, XX adult patients with congenital adrenal hyperplasia reared as males.

    Science.gov (United States)

    Khattab, A; Yau, M; Qamar, A; Gangishetti, P; Barhen, A; Al-Malki, S; Mistry, H; Anthony, W; Toralles, M B; New, Maria I

    2017-01-01

    Patients with Congenital Adrenal Hyperplasia (CAH) owing to 21-hydroxylase deficiency and whose karyotype is 46, XX are usually assigned to the female gender. Reported herein are the long term outcomes in three patients with CAH whose karyotype is 46, XX and who were reared as males. A retrospective review of three CAH patients with a 46, XX karyotype who were reared as males was conducted. Gender assignment, clinical and biochemical data, pre and post-genitoplasty genital examinations were reviewed. Gender identity was tested by an extensive questionnaire. Gender role, sexual preference, marital status and sexual satisfaction were evaluated by interview. The three patients were genotyped for the CYP21A2 gene confirming the diagnosis of CAH. Owing to genital virilization, cultural preferences for male gender and the lack of newborn screening programs the three patients reported herein were assigned to the male gender at birth before the diagnosis of CAH was established. In adulthood the patients remained significantly virilized. Thorough psychosexual assessments in adulthood revealed well established male gender identities compatible with their male gender assignments at birth. In all three patients, gender role and behavior were consistent with male gender identity including sexual intercourse with female partners. The three patients reported herein revealed that male gender assignment to CAH patients with a 46, XX karyotype may have a successful outcome providing there is strong parental support and expert endocrine care. No standard guidelines have been published for the gender assignment of CAH patients with a 46, XX karyotype and genital ambiguity. More studies concerning gender assignment in CAH patients with a 46, XX karyotype reared as males are needed. Copyright © 2016 Elsevier Ltd. All rights reserved.

  7. Confirmation of congenital adrenal hyperplasia by adrenal steroid profiling of filter paper dried blood samples using ultra-performance liquid chromatography-tandem mass spectrometry.

    Science.gov (United States)

    Rossi, Claudia; Calton, Lisa; Brown, Heather A; Gillingwater, Scott; Wallace, A Michael; Petrucci, Francesca; Ciavardelli, Domenico; Urbani, Andrea; Sacchetta, Paolo; Morris, Michael

    2011-04-01

    The specificity of screening for congenital adrenal hyperplasia by direct measurement of 17-hydroxyprogesterone in filter paper dried blood spot samples by immunoassay is low and has a high false-positive rate. In order to reduce the false-positive rate of this test, we developed a rapid, robust, specific confirmatory procedure in which cortisol, 4-androstene-3,17-dione and 17-hydroxyprogesterone were measured simultaneously by ultra-performance liquid chromatography-tandem mass spectrometry. After extraction, samples were analysed by ultra-performance liquid chromatography-tandem mass spectrometry and 17-hydroxyprogesterone was quantified accurately. Other steroids were determined using stable deuterated internal standards. In total, 25 patient blood spot samples and 92 control samples were analysed. The assay was linear for 17-hydroxyprogesterone, with a coefficient of determination >0.997 and imprecision ≤ 6.5%. An upper limit of normal for 17-hydroxyprogester-one of 4.45 nmol/L was established by analysing a cohort of samples from unaffected newborns. In addition, a cut-off of 3.5 for the peak areas ratio (17-hydroxyprogesterone+4-androstene-3,17-dione)/cortisol, allows confirmation of the affected steroidogenic enzyme. A high throughput method for the detection of steroids related to congenital adrenal hyperplasia has been developed, allowing the false-positive rate associated with screening for 17-hydroxyprogesterone by immunoassay to be determined.

  8. [Recommendations for the diagnosis and treatment of classic forms of 21-hydroxylase-deficient congenital adrenal hyperplasia].

    Science.gov (United States)

    Rodríguez, Amparo; Ezquieta, Begoña; Labarta, José Igancio; Clemente, María; Espino, Rafael; Rodriguez, Amaia; Escribano, Aranzazu

    2017-08-01

    Congenital adrenal hyperplasia due to 21-hydroxylase deficiency is an autosomal recessive disorder caused by mutations in the CYP21A2 gene. Cortisol and aldosterone synthesis are impaired in the classic forms (adrenal insufficiency and salt-wasting crisis). Females affected are virilised at birth, and are at risk for genital ambiguity. In this article we give recommendations for an early as possible diagnosis and an appropriate and individualised treatment. A patient and family genetic study is essential for the diagnosis of the patient, and allows genetic counselling, as well as a prenatal diagnosis and treatment for future pregnancy. Copyright © 2016 Asociación Española de Pediatría. Publicado por Elsevier España, S.L.U. All rights reserved.

  9. Severe Short Stature in an Adolescent Male with Prader-Willi Syndrome and Congenital Adrenal Hyperplasia: A Therapeutic Conundrum

    Directory of Open Access Journals (Sweden)

    Meredith Wasserman

    2017-01-01

    Full Text Available Congenital adrenal hyperplasia (CAH due to 21-hydroxylase deficiency results in excess androgen production which can lead to early epiphyseal fusion and short stature. Prader-Willi syndrome (PWS is a genetic disorder resulting from a defect on chromosome 15 due to paternal deletion, maternal uniparental disomy, or imprinting defect. Ninety percent of patients with PWS have short stature. In this article we report a patient with simple-virilizing CAH and PWS who was overtreated with glucocorticoids for CAH and not supplemented with growth hormone for PWS, resulting in a significantly short adult height.

  10. Alteraciones neuropsicológicas en la hiperplasia adrenal congénita Neuropsychological disorders related to congenital adrenal hyperplasia

    OpenAIRE

    Yaser Ramírez Benítez; Hussimy Marchena Morera

    2008-01-01

    INTRODUCCIÓN: la hiperplasia adrenal congénita engloba un conjunto de enfermedades genéticas de transmisión autosómica recesiva caracterizadas por un trastorno de la esteroidogénesis suprarrenal. Constituye un caso típico de daño cerebral por el efecto patológico de las hormonas sexuales en el sistema nervioso en desarrollo, y a esto se le suman las secuelas secundarias al cuadro grave de crisis adrenal que aparece en la forma clásica a los pocos días de vida. MÉTODOS: estudio de caso en un n...

  11. Adrenal vein sampling versus CT scan to determine treatment in primary aldosteronism : an outcome-based randomised diagnostic trial

    NARCIS (Netherlands)

    Dekkers, Tanja; Prejbisz, Aleksander; Kool, Leo J. Schultze; Groenewoud, Hans J. M. M.; Velema, Marieke; Spiering, Wilko; Kolodziejczyk-Kruk, Sylwia; Arntz, Mark; Kadziela, Jacek; Langenhuijsen, Johannes F.; Kerstens, Michiel N.; van den Meiracker, Anton H.; van den Born, Bert-Jan; Sweep, Fred C. G. J.; Hermus, Ad R. M. M.; Januszewicz, Andrzej; Ligthart-Naber, Alike F.; Makai, Peter; van der Wilt, Gert-Jan; Lenders, Jacques W. M.; Deinum, Jaap

    Background The distinction between unilateral aldosterone-producing adenoma or bilateral adrenal hyperplasia as causes of primary aldosteronism is usually made by adrenal CT or by adrenal vein sampling (AVS). Whether CT or AVS represents the best test for diagnosis remains unknown. We aimed to

  12. Should we question early feminizing genitoplasty for patients with congenital adrenal hyperplasia and XX karyotype?

    Science.gov (United States)

    Binet, A; Lardy, H; Geslin, D; Francois-Fiquet, C; Poli-Merol, M L

    2016-03-01

    There is a wide difference of opinion between the medical-surgical community and advocacy group regarding Disorders of Sexual Development (DSD) secondary to congenital adrenal hyperplasia (CAH) being ranked in the intersex category. This rupture is even more evident when the issue of genitoplasty is brought up. For physicians it is obvious and unequivocal that a person with CAH and an XX karyotype has a female gender identity, whereas associations tend to rank persons with CAH in the intersex category and advocate holding-off on surgical management. A retrospective case study vs. control group, spanning over 40years, included 21 patients who were treated in 3 different centers. Each patient and their parents were contacted independently and interviewed regarding interpersonal relationships, psychological impact of genitoplasty, gender identity and opinion on optimal care management for this disorder. Three couples controls (parent-child) per CAH patients were used and matched according to age, sex assigned at birth and ethnic origin. Sex assigned at birth seemed to concord with the gender identity perceived by the patients in 85.7% of cases. In fact, 89.7% of patients and 100% of parents felt that feminizing genitoplasty should be performed within the first year of life. There is however a significant difference compared to controls who felt that surgical management should occur later on in life. No difference was highlighted during childhood regarding parents-child relationships or social integration. However, during adolescence, the parents-child relationship tended to be significantly more painful for the CAH group. Integrating their parenting role was significantly harder for patients in the CAH-DSD group. In the population of CAH-DSD patients who had genitoplasty the level of sexual fulfillment was not lower to the one reported by the control group. Female sex assignment seems legitimate according to this study and the development of gender identity in these

  13. Congenital Adrenal Hyperplasia in an Elite Female Soccer Player; What Sports Medicine Clinicians Should Know about This?

    Science.gov (United States)

    Angoorani, Hooman; Haratian, Zohreh; Halabchi, Farzin

    2012-09-01

    Congenital Adrenal Hyperplasia (CAH) refers to a group of congenital conditions characterized by disordered cortisol synthesis. The correlation between CAH and sports performance has been less studied before and there is very limited information regarding the impacts of this congenital disease on sports performance. Probably, there are some limitations for patients who suffer from CAH in sports, but at the same time, they may enjoy some advantage due to the probable effect of endogenous hyperandrogenism on their exercise performance. The case is a 14 - year old girl with male phenotype who is a known case of congenital adrenal hyperplasia. She plays in the women's national soccer team of under 16. She has been in the first division league of indoor soccer for 4 years and was also selected in the preparation training camp of women's football team for Singapore's youth Olympic Games. Her illness and dependence on corticosteroid have caused some concerns for her participation in the international competitions of women. However, following consultations with the Therapeutic Use Exemption (TUE) Committee of games organization, she received TUE to use corticosteroid only within the games period. Despite all her problems, she is now playing in the Second Division League of indoor soccer. A female adolescent with CAH may compete at the high level of outdoor and indoor soccer. However, there are many questions regarding the advantages and disadvantages of this congenital disorder and its treatment on sports related issues.

  14. [Final height in symptomatic boys with late-onset adrenal hyperplasia (LOCAH), treated with glucocorticoids. Clinical cases].

    Science.gov (United States)

    Pasqualini, Titania; Alonso, Guillermo; Fernández, Cecilia; Buzzalino, Noemí; Dain, Liliana

    2013-04-01

    Although corticoid replacement is recommended for those late-onset adrenal hyperplasia with clinical manifestations, asymptomatic patients do not need treatment. We describe clinical features at diagnosis, treatment, and growth till adult- height, in 4 boys. At diagnosis, age ranged from 9.2-11.6 years. The initial symptoms/signs were: precocious pubarche (n = 2), accelerated bone age (n = 1) and precocious puberty (n = 1). All of them presented elevated 17 hydroxyprogesterone levels and were compound heterozygotes carrying p.V281L mutation. Since, at diagnosis, bone age was significantly advanced for chronological age (13.1 ± 0.5 vs. 10.2 ± 1.1 p = 0.008), hydrocortisone therapy was initiated. During follow-up, mean height Z score decreased 1.4 ± 0.4 SDS (p = 0.007), though adult mean height was not different from target height (-0.39 ± 0.7 vs. -0.04 ± 0.5 SDS, p = 0.054). In conclusion, in 4 symptomatic patients, accurate treatment of late-onset adrenal hyperplasia led to an adult mean height not different from target height. Advanced bone age at diagnosis and the loss of height during pubertal development suggest the need of therapy.

  15. Addison disease’s in puppy, congenital adrenal hyperplasia (adrenal 21 alpha hydroxilase deficiency) and Hypoparathyroidism in Dogs

    OpenAIRE

    Castillo, Víctor; Ortemberg, L.

    2009-01-01

    La enfermedad de Addison (EA), la hiperplasia adrenal congénita (HAC) por déficit de 21 αhidroxilasa adrenal y el hipoparatiroidismo (HoPTH) son de diagnóstico poco frecuente, representando el 3% (EA) y 0,5% (tanto HAC como HoPTH) de las enfermedades endócrinas atendidas. Se describen 1 caso de EA congénito (collie de 6 meses de edad), 2 casos de HAC (una caniche toy y una labradora, ambas de 2 años) y 2 de HoPTH (cocker spaniel de 11 meses y una mestiza de 7 años). Por la signología clínica ...

  16. A marked proportional rise in IVC aldosterone following cosyntropin administration during AVS is a signal to the presence of adrenal hyperplasia in primary aldosteronism.

    Science.gov (United States)

    Kline, G A; Pasieka, J L; Harvey, A; So, B; Dias, V C

    2014-05-01

    We hypothesized aldosteronoma responsiveness to cosyntropin may be a characterizing feature that could be determined in addition to standard adrenal vein sampling (AVS) data. We reviewed an AVS database from June 2005 to October 2011 including 65 patients with confirmed primary aldosteronism (PA) who underwent AVS and, if applicable, unilateral adrenalectomy. Patients were divided into confirmed lateralized and non-lateralized groups and subgrouped by histology. Plasma aldosterone in inferior vena cava (IVC) pre- and post-cosyntropin infusion during AVS was measured. Peak aldosterone and proportional change was compared between groups. Baseline and peak IVC aldosterone was higher in lateralized patients but incremental aldosterone rise was much greater in subjects with bilateral hyperplasia. From receiver operator characteristics (ROC) analysis, the optimized diagnostic cut point of peak IVC aldosterone of >649 pmol l(-1) would have a sensitivity of 94% for surgical disease although specificity of just 59%. A 250% increase in IVC aldosterone following cosyntropin would be specific enough to exclude 87% of surgical/lateralized disease. These diagnostic capabilities are similar to other results with non-AVS tests performed for diagnosis of lateralization. Although not specific enough to replace standard AVS interpretation, a marked IVC aldosterone increase after cosyntropin during AVS is a useful additional test to diagnose non-lateralizing forms of PA. Such a calculation requires no additional expense or tests.

  17. Prenatal Hormones and Postnatal Socialization by Parents as Determinants of Male-Typical Toy Play in Girls With Congenital Adrenal Hyperplasia

    Science.gov (United States)

    Pasterski, Vickie L.; Geffner, Mitchell E.; Brain, Caroline; Hindmarsh, Peter; Brook, Charles; Hines, Melissa

    2005-01-01

    Toy choices of 3- to 10-year-old children with congenital adrenal hyperplasia (CAH) and of their unaffected siblings were assessed. Also assessed was parental encouragement of sex-typed toy play. Girls with CAH displayed more male-typical toy choices than did their unaffected sisters, whereas boys with and without CAH did not differ. Mothers and…

  18. Physical, social and societal functioning of children with congenital adrenal hyperplasia (CAH and their parents, in a Dutch population

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    Sanches Sarita A

    2012-02-01

    Full Text Available Abstract Background Most research concerning congenital adrenal hyperplasia (CAH and related conditions caused by primary adrenal insufficiency, such as Addison's or Cushing's disease, has focused on medical aspects rather than on patients' quality of life. Therefore, our objective was to investigate the physical, social and societal functioning of children with CAH and their parents in a Dutch population. Methods The study is descriptive and cross-sectional. Self-designed questionnaires, based on questionnaires developed in the Netherlands for different patient groups, were sent to parents of children with CAH between 0 and 18 years old. Participants were recruited through the Dutch patient group for Adrenal Disease (NVACP and six hospitals in the Netherlands. Three different questionnaires were designed for parents: for children aged 0 - 4, aged 4 - 12 and aged 12 - 18. Additionally, a fourth questionnaire was sent to adolescents with CAH aged 12 - 18. Main outcome measures were experienced burden of the condition, self-management and participation in several areas, such as school and leisure time. Results A total of 106 parents returned the questionnaire, 12 regarding pre-school children (0-4 years, 63 regarding primary school children (4-12 years, and 32 regarding secondary school children (12-18 years, combined response rate 69.7%. Also, 24 adolescents returned the questionnaire. Children and adolescents with CAH appear to be capable of self-management at a young age. Experienced burden of the condition is low, although children experience several health related problems on a daily basis. Children participate well in school and leisure time. Few children carry a crisis card or emergency injection with them. Conclusions Overall, our research shows that, according to their parents, children with CAH experience few negative effects of the condition and that they participate well in several areas such as school and leisure time. However

  19. Complicated Candida parapsilosis peritonitis on peritoneal dialysis in a neonate with renal failure because of bilateral adrenal abscesses

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    I. Cheng

    2011-10-01

    Full Text Available We present a full-term female infant with a difficult delivery course complicated with Escherichia coli sepsis and bilateral adrenal abscesses. She developed renal failure and received peritoneal dialysis. Peritonitis of Candida parapsilosis developed later. The infant was successfully treated with hemofiltration and a combination of antifungal agents.

  20. Children with classic congenital adrenal hyperplasia have elevated serum leptin concentrations and insulin resistance: potential clinical implications.

    Science.gov (United States)

    Charmandari, Evangelia; Weise, Martina; Bornstein, Stefan R; Eisenhofer, Graeme; Keil, Margaret F; Chrousos, George P; Merke, Deborah P

    2002-05-01

    Leptin is secreted by the white adipose tissue and modulates energy homeostasis. Nutritional, neural, neuroendocrine, paracrine, and autocrine factors, including the sympathetic nervous system and the adrenal medulla, have been implicated in the regulation of leptin secretion. Classic congenital adrenal hyperplasia (CAH) is characterized by a defect in cortisol and aldosterone secretion, impaired development and function of the adrenal medulla, and adrenal hyperandrogenism. To examine leptin secretion in patients with classic CAH in relation to their adrenomedullary function and insulin and androgen secretion, we studied 18 children with classic CAH (12 boys and 6 girls; age range 2-12 yr) and 28 normal children (16 boys and 12 girls; age range 5-12 yr) matched for body mass index (BMI). Serum leptin concentrations were significantly higher in patients with CAH than in control subjects (8.1 +/- 2.0 vs. 2.5 +/- 0.6 ng/ml, P = 0.01), and this difference persisted when leptin values were corrected for BMI. When compared with their normal counterparts, children with CAH had significantly lower plasma epinephrine (7.1 +/- 1.3 vs. 50.0 +/- 4.2, P fasting serum insulin (10.6 +/- 1.4 vs. 3.2 +/- 0.2 microU/ml, P Insulin resistance determined by the homeostasis model assessment method was significantly greater in children with classic CAH than in normal children (2.2 +/- 0.3 vs. 0.7 +/- 0.04, P patients and controls. Gender predicted serum leptin concentrations in controls but not in patients with classic CAH. No association was found between the dose of hydrocortisone and serum leptin (r = -0.17, P = 0.5) or insulin (r = 0.24, P = 0.3) concentrations in children with CAH. Our findings indicate that children with classic CAH have elevated fasting serum leptin and insulin concentrations, and insulin resistance. These most likely reflect differences in long-term adrenomedullary hypofunction and glucocorticoid therapy. Elevated leptin and insulin concentrations in patients

  1. Characterization of novel StAR (steroidogenic acute regulatory protein mutations causing non-classic lipoid adrenal hyperplasia.

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    Christa E Flück

    Full Text Available CONTEXT: Steroidogenic acute regulatory protein (StAR is crucial for transport of cholesterol to mitochondria where biosynthesis of steroids is initiated. Loss of StAR function causes lipoid congenital adrenal hyperplasia (LCAH. OBJECTIVE: StAR gene mutations causing partial loss of function manifest atypical and may be mistaken as familial glucocorticoid deficiency. Only a few mutations have been reported. DESIGN: To report clinical, biochemical, genetic, protein structure and functional data on two novel StAR mutations, and to compare them with published literature. SETTING: Collaboration between the University Children's Hospital Bern, Switzerland, and the CIBERER, Hospital Vall d'Hebron, Autonomous University, Barcelona, Spain. PATIENTS: Two subjects of a non-consanguineous Caucasian family were studied. The 46,XX phenotypic normal female was diagnosed with adrenal insufficiency at the age of 10 months, had normal pubertal development and still has no signs of hypergonodatropic hypogonadism at 32 years of age. Her 46,XY brother was born with normal male external genitalia and was diagnosed with adrenal insufficiency at 14 months. Puberty was normal and no signs of hypergonadotropic hypogonadism are present at 29 years of age. RESULTS: StAR gene analysis revealed two novel compound heterozygote mutations T44HfsX3 and G221S. T44HfsX3 is a loss-of-function StAR mutation. G221S retains partial activity (∼30% and is therefore responsible for a milder, non-classic phenotype. G221S is located in the cholesterol binding pocket and seems to alter binding/release of cholesterol. CONCLUSIONS: StAR mutations located in the cholesterol binding pocket (V187M, R188C, R192C, G221D/S seem to cause non-classic lipoid CAH. Accuracy of genotype-phenotype prediction by in vitro testing may vary with the assays employed.

  2. Calcitriol-mediated hypercalcemia in a patient with bilateral adrenal non-Hodgkin's B-cell lymphoma case report

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    Ana Abaroa-Salvatierra

    2016-04-01

    Full Text Available Calcitriol-mediated hypercalcemia is a frequent manifestation of hematological malignancies. However, there are a few reports of cases presenting with increased angiotensin-converting enzyme (ACE level, which suggests a possible mechanism similar to that of granulomatous diseases. We present a patient with hypercalcemia, normal parathyroid hormone, and parathyroid hormone-related protein levels but high calcitriol and ACE levels that, after further investigation, was diagnosed with bilateral adrenal non-Hodgkin's B-cell lymphoma. Primary adrenal lymphoma represents only 1% of all non-Hodgkin's lymphomas and is usually asymptomatic but should be considered by clinicians among the malignancies that cause calcitriol-mediated hypercalcemia.

  3. Unusual phenotype of congenital adrenal hyperplasia (CAH) with a novel mutation of the CYP21A2 gene.

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    Raisingani, Manish; Contreras, Maria F; Prasad, Kris; Pappas, John G; Kluge, Michelle L; Shah, Bina; David, Raphael

    2016-07-01

    Gonadotropin independent sexual precocity (SP) may be due to congenital adrenal hyperplasia (CAH), and its timing usually depends on the type of mutation in the CYP21A2 gene. Compound heterozygotes are common and express phenotypes of varying severity. The objective of this case report was to investigate the hormonal pattern and unusual genetic profile in a 7-year-old boy who presented with pubic hair, acne, an enlarged phallus, slightly increased testicular volume and advanced bone age. Clinical, hormonal and genetic studies were undertaken in the patient as well as his parents. We found elevated serum 17-hydroxyprogesterone (17-OHP) and androstenedione that were suppressed with dexamethasone, and elevated testosterone that actually rose after giving dexamethasone, indicating activity of the hypothalamic-pituitary-gonadal (HPG) axis. An initial search for common mutations was negative, but a more detailed genetic analysis of the CYP21A2 gene revealed two mutations including R341W, a non-classical mutation inherited from his mother, and g.823G>A, a novel not previously reported consensus donor splice site mutation inherited from his father, which is predicted to be salt wasting. However, the child had a normal plasma renin activity. He was effectively treated with low-dose dexamethasone and a GnRH agonist. His father was an unaffected carrier, but his mother had evidence of mild non-classical CAH. In a male child presenting with gonadotropin independent SP it is important to investigate adrenal function with respect to the androgen profile, and to carry out appropriate genetic studies.

  4. Adrenal incidentalomas. Primary hyperaldosteronism

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    Murat, A.; Dupas, B.; Zenatti, M.; Aupetit-Faisant, B.; Tenenbaum, F.; Tabarin, A.; Barrat, J.L.; Gosse, P.; Olivier-Puel, F.; Leprat, F.; Trouette, H.; Laurent, F.; Roger, P.

    1993-01-01

    Adrenal incidentalomas are masses incidentally discovered at X rays, ultrasound or MRI examination of the abdomen. In 100 CT scans, one can expect to find two incidentalomas on average. The article by Murat and Dupas is dealing with the strategy of biological, morphological and scintigraphic examinations to be performed in such patients, to assess whether the tumor is of a benign or a malignant nature. Zenatti et al propose a detailed exploration of the aldosterone pathways, since adrenal carcinoma may be responsible for a specific profile of the serum concentrations of mineralo-steroids, compatible with a blockade of the last step of the aldosterone synthesis. The exploration of primary hyperaldosteronism requires biological and imaging techniques. Tabarin et al summarize the main biological parameters and tests available for the diagnosis of this condition and delineate the indications of imaging techniques, associated to hormonal tests to distinguish between adenoma and bilateral adrenal hyperplasia. (author). 104 refs

  5. Laparoscopic-assisted vaginal pull-through: A new approach for congenital adrenal hyperplasia patients with high urogenital sinus

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    Jacques Birraux

    2015-01-01

    Full Text Available Background: To open vaginal cavity to the pelvic floor is part of surgical treatment for urogenital sinus (UGS in girls with congenital adrenal hyperplasia (CAH. For high UGS, this operative procedure can be challenging and may jeopardise urinary continence. Combined perineal and laparoscopic approaches could be useful to minimise perineal dissection and to facilitate the vaginal lowering. Patients and Methods: We report the procedure of a laparoscopic-assisted vaginal pull-through for supra-sphincteric UGS in a 5-year-old girl with CAH. Laparoscopic dissection of the vagina from the posterior wall of the bladder and urethra, division of the confluence and vaginal pull-through to the perineum are described. Discussion: The technique is derived from laparoscopic-assisted treatment for high ano-rectal malformations. Compared with current procedures for treatment for high UGS, laparoscopic-assisted approach allows mobilising vagina with minimal dissection of perineum and complete preservation of urethra. Another major advantage is to provide a direct vision for dissection of the space between rectum and urethra prior to vaginal pull-through. Conclusion: Laparoscopic-assisted vaginal pull-through appears to be an interesting approach for high UGS in CAH patients, reducing dissection and risk of urinary incontinence. This new approach needs to be strengthened by other cases.

  6. Prevalence of and markers for the attenuated form of congenital adrenal hyperplasia and hyperprolactinemia masquerading as polycystic ovarian disease.

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    Benjamin, F; Deutsch, S; Saperstein, H; Seltzer, V L

    1986-08-01

    To determine the prevalence of the attenuated form of congenital adrenal hyperplasia (CAH) and hyperprolactinemia (HPPN) relative to polycystic ovarian disease (PCOD), 100 consecutive women presenting with the classic clinical features of PCOD were evaluated by basal hormonal profiles and subsequent adrenocorticotropic hormone (ACTH) stimulation tests. The study also sought biochemical markers for CAH other than ACTH stimulation. The prevalences were found to be as follows: PCOD, 65%; PCOD with HPPN, 9%; HPPN, 3%, end-organ hypersensitivity (EOH), 4%; homozygotic CAH, 4%; and heterozygotic CAH, 15%. Other than the differential response to ACTH, the only other biochemical markers observed for homozygotic CAH were significantly higher basal levels of testosterone (T) and 17 alpha-hydroxyprogesterone (17-OHP). Luteinizing hormone/follicle-stimulating hormone ratio, androstenedione, and dehydroepiandrosterone sulfate all showed no significant differences between homozygotic CAH, heterozygotic CAH, HPPN, PCOD, and EOH. This study establishes the relative prevalences of the syndromes commonly mimicking PCOD. We also conclude that the observed low incidence of CAH does not justify routine ACTH testing on all patients presenting with features of PCOD--however, our data suggest that patients with basal serum levels of T and 17-OHP greater than 50% above the upper limit of normal should undergo this dynamic test, especially if there are also certain clinical features suggestive of CAH.

  7. Sexual orientation and medical history among Iranian people with Complete Androgen Insensitivity Syndrome and Congenital Adrenal Hyperplasia.

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    Khorashad, Behzad S; Roshan, Ghasem M; Reid, Alistair G; Aghili, Zahra; Hiradfar, Mehran; Afkhamizadeh, Mozhgan; Talaei, Ali; Aarabi, Azadeh; Ghaemi, Nosrat; Taghehchian, Negin; Saberi, Hedieh; Farahi, Nazanin; Abbaszadegan, Mohammad Reza

    2017-01-01

    To report sexual orientation, relationship status and medical history of Iranian people with Differences of Sex Development (DSD) who were raised female. Our participants consisted of nineteen 46,XY individuals with Complete Androgen Insensitivity Syndrome (CAIS) and eighteen 46,XX individuals with Congenital Adrenal Hyperplasia (CAH) who were raised as females and older than 13years. As well as their relationship status and detailed medical history, an expert psychiatrist assessed their sexual orientation by a semi-structured psychiatric interview with them and, where applicable, their parents. Five percent of CAH participants and 42% of CAIS participants were in a relationship, which was significantly different. All CAH individuals had been diagnosed at birth; 89% of CAIS had been diagnosed after puberty and due to primary amenorrhea and 11% were diagnosed in childhood due to inguinal hernia. Genital reconstructive surgery had been performed in 100% of CAH participants and 37% of CAIS. Regarding sexual contact experiences and sexual fantasies (androphilic, gynephilic or both), no significant differences were found. However, CAH females had significantly more gynephilic dreams (P=0.045). This study, notable as one of the rare from a non-western culture, described sexual, medical and socioeconomic status of 46,XX CAH and 46,XY CAIS individuals living in Iran. Although broadly in line with previous findings from Western cultures, Iranian CAH individuals had fewer romantic relationships, but in contrast to previous studies their sexual orientation was only different from CAIS in the contents of sexual dreams. Copyright © 2016 Elsevier Inc. All rights reserved.

  8. Syndrome-Related Stigma in the General Social Environment as Reported by Women with Classical Congenital Adrenal Hyperplasia.

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    Meyer-Bahlburg, Heino F L; Reyes-Portillo, Jazmin A; Khuri, Jananne; Ehrhardt, Anke A; New, Maria I

    2017-02-01

    Stigma defined as "undesired differentness" (Goffman, 1963) and subtyped as "experienced" or "enacted," "anticipated," and "internalized" has been documented for patients with diverse chronic diseases. However, no systematic data exist on the association of stigma with somatic intersexuality. The current report concerns women with classical congenital adrenal hyperplasia (CAH), the most prevalent intersex syndrome, and provides descriptive data on CAH-related stigma as experienced in the general social environment (excluding medical settings and romantic/sexual partners) during childhood, adolescence, and adulthood. A total of 62 adult women with classical CAH [41 with the salt-wasting (SW) variant and 21 with the simple-virilizing (SV) variant] underwent a qualitative retrospective interview, which focused on the impact of CAH and its medical treatment on many aspects of women's lives. Deductive content analysis was performed on the transcribed texts. The women's accounts of CAH-related stigma were identified and excerpted as vignettes, and the vignettes categorized according to social context, stigma type, and the associated features of the CAH condition. Nearly two-thirds of women with either variant of CAH provided stigma vignettes. The vignettes included all three stigma types, and most involved some somatic or behavioral feature related to sex or gender. Stigma situations were reported for all ages and all social contexts of everyday life: family, peers, colleagues at work, strangers, and the media. We conclude that there is a need for systematic documentation of stigma in intersexuality as a basis for the development of improved approaches to prevention and intervention.

  9. Metabolic profile and cardiovascular risk factors in adult patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency

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    Mouna Feki Mnif

    2012-01-01

    Full Text Available Background: In congenital adrenal hyperplasia (CAH, long-term glucocorticoid treatment coupled with increased androgens may lead to undesirable metabolic effects. The aim of our report was to determine the prevalence of metabolic abnormalities and cardiovascular risk factors in a population of adult patients with CAH due to 21 hydroxylase deficiency. Materials and Methods: Twenty-six patients (11 males and 15 females, mean age ± SD=27.4±8.2 years were recruited. Anthropometry, body composition, metabolic parameters and cardiovascular risk factors were studied. Results: Obesity (overweight included was noted in 16 patients (61.5%, with android distribution in all cases. Bioelectrical impedance showed increased body fat mass in 12 patients (46.1%. Lipid profile alterations and carbohydrate metabolism disorders were detected in seven (26.9% and five (19.2% patients respectively. Moderate hepatic cytolysis, associated with hepatic steatosis, was found in one patient. Seven patients (27% had insulin resistance. Ambulatory blood pressure monitoring showed abnormalities in six patients (23%. Increased carotid intima media thickness was found in 14 patients (53.8%. Conclusion: Adult CAH patients tend to have altered metabolic parameters and a higher prevalence of cardiovascular risk factors. Lifelong follow-up, lifestyle modifications, and attempts to adjust and reduce the glucocorticoid doses seem important.

  10. Male gender identity in children with 46,XX DSD with congenital adrenal hyperplasia after delayed presentation in mid-childhood.

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    Chowdhury, Tanvir Kabir; Laila, Kamrun; Hutson, John M; Banu, Tahmina

    2015-12-01

    Girls with congenital adrenal hyperplasia (CAH) diagnosed at birth have some masculine behaviors but rarely convert to male gender. In developing countries, however, diagnosis and treatment (with secondary androgen suppression) are delayed. We aimed to assess effect of delayed treatment of CAH on gender identity. As part of a cross-sectional, case-control study of children with disorders of sex development (DSD), there were 11 patients with CAH. Patients and caregivers answered a questionnaire about gender identity, and behavior was assessed by observing toy play. Patients were examined for Prader score and gender identity. Of 11 CAH patients initially raised as girls, 3 (27%) had converted to male gender at presentation (5, 9, 9years) (Prader 3, 4, 4). Of the remaining 8 patients, one 4-year-old (Prader 2) had a male gender identity score. The remaining girls (2-13years, mean 8.1) (Prader 1-3) had gender identity scores in the female range. One third (4/11) of CAH patients presenting in mid-childhood had male gender identity scores, and ¾ had assumed male gender role. Although social and cultural factors are important in developing countries, this result suggests that delayed treatment may trigger male gender identity, and delayed female genital surgery may be unwise. Copyright © 2015 Elsevier Inc. All rights reserved.

  11. [Congenital adrenal hyperplasia: a qualitative study on sex definition and redesignation dilation surgery and psychological support (part II)].

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    Telles-Silveira, Mariana; Tonetto-Fernandes, Vânia F; Schiller, Paulo; Kater, Claudio E

    2009-12-01

    To identify relevant questions related to sex definition and re-designation and reconstructive surgery in patients with congenital adrenal hyperplasia (CAH), and to understand the role of the psychologist in providing care for these patients. We selected 21 subjects: 7 pediatric endocrinologists from 5 Brazilian Public Health System institutions, 9 parents and 6 patients with CAH, according to a qualitative research model. In this paper, 3 of the studied categories are analyzed: 'sex definition and re-designation', 'reconstructive surgery/vaginal dilation', and 'psychology'. Parents' main anguish relates to the situation of an unnamed sex at birth, whereas sex re-designation was distressful to physicians. A sense of loneliness when dealing with the disease and treatment was a common anguish among patients; dilation procedures were the major complaint. In general, physicians recommend that genital reconstructive surgery be performed early on to avoid future trauma. In such a complex scenario, it is remarkable that not all the reference service staff have a psychologist on duty. Difficulties to deal with questions involving sexuality were evident and dilation procedures are an additional source of trauma for these patients.

  12. Guidelines for the Development of Comprehensive Care Centers for Congenital Adrenal Hyperplasia: Guidance from the CARES Foundation Initiative

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    Rink RichardC

    2010-11-01

    Full Text Available Patients with rare and complex diseases such as congenital adrenal hyperplasia (CAH often receive fragmented and inadequate care unless efforts are coordinated among providers. Translating the concepts of the medical home and comprehensive health care for individuals with CAH offers many benefits for the affected individuals and their families. This manuscript represents the recommendations of a 1.5 day meeting held in September 2009 to discuss the ideal goals for comprehensive care centers for newborns, infants, children, adolescents, and adults with CAH. Participants included pediatric endocrinologists, internal medicine and reproductive endocrinologists, pediatric urologists, pediatric surgeons, psychologists, and pediatric endocrine nurse educators. One unique aspect of this meeting was the active participation of individuals personally affected by CAH as patients or parents of patients. Representatives of Health Research and Services Administration (HRSA, New York-Mid-Atlantic Consortium for Genetics and Newborn Screening Services (NYMAC, and National Newborn Screening and Genetics Resource Center (NNSGRC also participated. Thus, this document should serve as a "roadmap" for the development phases of comprehensive care centers (CCC for individuals and families affected by CAH.

  13. A rare CYP21A2 mutation in a congenital adrenal hyperplasia kindred displaying genotype-phenotype nonconcordance.

    Science.gov (United States)

    Khattab, Ahmed; Yuen, Tony; Al-Malki, Sultan; Yau, Mabel; Kazmi, Diya; Sun, Li; Harbison, Madeleine; Haider, Shozeb; Zaidi, Mone; New, Maria I

    2016-01-01

    Congenital adrenal hyperplasia (CAH) owing to 21-hydroxylase deficiency is caused by the autosomal recessive inheritance of mutations in the gene CYP21A2. CYP21A2 mutations lead to variable impairment of the 21-hydroxylase enzyme, which, in turn, is associated with three clinical phenotypes, namely, salt wasting, simple virilizing, and nonclassical CAH. However, it is known that a given mutation can associate with different clinical phenotypes, resulting in a high rate of genotype-phenotype nonconcordance. We aimed to study the genotype-phenotype nonconcordance in a family with three siblings affected with nonclassical CAH. All had hormonal evidence of nonclassical CAH, but this phenotype could not be explained by the genotype obtained from commercial CYP21A2 genetic testing, which revealed heterozygosity for the maternal 30 kb deletion mutation. We performed Sanger sequencing of the entire CYP21A2 gene in this family to search for a rare mutation that was not covered by commercial testing and found in the three siblings a second, rare c.1097G>A (p.R366H) mutation in exon 8. Computational modeling confirmed that this was a mild mutation consistent with nonclassical CAH. We recommend that sequencing of entire genes for rare mutations should be carried out when genotype-phenotype nonconcordance is observed in patients with autosomal recessive monogenic disorders, including CAH. © 2015 New York Academy of Sciences.

  14. 131I-19-iodocholesterol adrenal scanning in Cushing's syndrome

    International Nuclear Information System (INIS)

    Charbonnel, B.; Chatal, J.F.; Chupin, M.; Guillon, J.

    1976-01-01

    7 patients were investigated: 2 bilateral hyperplasia due to pituitary ACTH excess showed bilateral adrenal activity. 1 post-surgical remnant with recurrent Cushing's syndrome was detected. 1 adenoma showed unilateral intense activity and absent activity in the controlateral gland, even after ACTH treatment. 2 carcinomas were weakly imaged. In 1 case, hepatic metastasis showed 131 I-19-iodocholesterol uptake. Adrenal imaging with 131 I-19-iodocholesterol is not a good procedure for assessing hormonal function. It is a valuable and safe tool in the localization and diagnosis of adrenal lesions causing Cushing's syndrome, perhaps better than radiologic procedures. Radiation dosimetry is acceptable [fr

  15. Bilateral Primary Adrenal Lymphoma in a 59- year-old Female

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    Alireza Ahmadi

    2018-02-01

    Full Text Available Occasionally, lymphoma involves the adrenal glands; however, primary adrenal lymphoma (PAL is rare and only few cases have been reported. We report a case of a 59-year-old female with primary adrenal diffuse large B-cell lymphoma (DLBCL manifested by weakness, fatigue, anorexia, and hyper pigmentation of skin. The patient initially responded to intravenous hydrocortisone in large doses by total remission of the symptoms. An abdominal computed tomography scan showed a hypodense mass in the right subdiaphragmatic space, which was suggestive of an adrenal gland tumor with adjacent liver involvement. Additionally, a smaller lesion with similar characteristics was found in the left adrenal gland. The results obtained from adrenal gland needle biopsy confirmed the diagnosis of DLBCL. Moreover, primary laboratory findings demonstrated hyponatremia, hyperkalemia, fasting blood sugar level of 153 mg/dl, and alkaline phosphatase level of 663 U/L. The mentioned symptoms and laboratory findings were indicative of adrenal insufficiency. After about 2 months, her level of consciousness decreased and urinary and fecal incontinence occurred. Therefore, brain involvement was suspected, and magnetic resonance imaging of the brain showed heterogeneous enhancement (24.8 mm in the posterior aspect of the left temporal lobe together with patchy foci of enhancement in around the ventricular areas of the brain that showed metastatic lesions of PAL. This case should remind clinicians that PAL may be a cause of adrenal incidentaloma, especially when the patient presents with the symptoms of adrenal insufficiency.

  16. A Multi-institutional Comparison of Adrenal Venous Sampling in Patients with Primary Aldosteronism: Caution Advised if Successful Bilateral Adrenal Vein Sampling is Not Achieved.

    Science.gov (United States)

    Wang, Tracy S; Kline, Greg; Yen, Tina W; Yin, Ziyan; Liu, Ying; Rilling, William; So, Benny; Findling, James W; Evans, Douglas B; Pasieka, Janice L

    2018-02-01

    In patients with primary aldosteronism (PA), adrenal venous sampling (AVS) is recommended to differentiate between unilateral (UNI) or bilateral (BIL) adrenal disease. A recent study suggested that lateralization could be predicted, based on the ratio of aldosterone/cortisol levels (A/C) between the left adrenal vein (LAV) and inferior vena cava (IVC), with a 100% positive predictive value (PPV). This study aimed to validate those findings utilizing a larger, multi-institutional cohort. A retrospective review was performed of patients with PA who underwent AVS from 2 tertiary-care institutions. Laterality was predicted by an A/C ratio of >3:1 between the dominant and non-dominant adrenal. AVS results were compared to LAV/IVC ratios utilizing the published criteria (Lt ≥ 5.5; Rt ≤ 0.5). Of 222 patients, 124 (57%) had UNI and 98 (43%) had BIL disease based on AVS. AVS and LAV/IVC findings were concordant for laterality in 141 (64%) patients (69 UNI, 72 BIL). Using only the LAV/IVC ratio, 54 (24%) patients with UNI disease on AVS who underwent successful surgery would have been assumed to have BAH unless AVS was repeated, and 24 (11%) patients with BIL disease on AVS may have been incorrectly offered surgery (PPV 70%). Based on median LAV/IVC ratios (left 5.26; right 0.31; BIL 2.84), no LAV/IVC ratio accurately predicted laterality. This multi-institutional study of patients with both UNI and BIL PA failed to validate the previously reported PPV of LAV/IVC ratio for lateralization. Caution should be used in interpreting incomplete AVS data to differentiate between UNI versus BIL disease and strong consideration given to repeat AVS prior to adrenalectomy.

  17. Aldosterone hypersecretion in “non-salt-losing” congenital adrenal hyperplasia

    Science.gov (United States)

    Bartter, Frederic C.; Henkin, Robert I.; Bryan, George T.

    1968-01-01

    Patients with the “non-salt-losing” form of the adrenogenital syndrome were studied before and after suppression of adrenal cortical activity with carbohydrate-active steroids. The response of aldosterone secretion to sodium deprivation was measured; in some patients response to adrenocorticotropic hormone (ACTH) was measured as well. The aldosterone secretion was normal and responded normally to sodium deprivation in all patients studied during suppression with carbohydrate-active steroids. This finding suggests that 21-hydroxylation of progesterone is normal in this syndrome. The sole abnormality in the production of aldosterone in these patients was found to be excessive secretion of aldosterone while they were not receiving suppressive doses of carbohydrate-active steroids. This finding strongly supports the view that the biogenetic pathways through which aldosterone is produced from progesterone are intact in this syndrome. No patient showed hypertension or hypokalemic alkalosis despite very high aldosterone secretion rates. This observation suggests that the hyper-aldosteronism is secondary to a tendency to sodium loss in the patient whose ACTH production is not suppressed. These studies provide additional evidence in support of the hypothesis that the salt-losing and “non-salt-losing” forms of adrenogenital syndrome are genetically and biochemically distinct. PMID:4299011

  18. P450XXI (steroid 21-hydroxylase) gene deletions are not found in family studies of congenital adrenal hyperplasia

    International Nuclear Information System (INIS)

    Matteson, K.J.; Phillips, J.A. III; Miller, W.L.; Chung, B.C.; Orlando, P.J.; Frisch, H.; Ferrandez, A.; Burr, I.M.

    1987-01-01

    Congenital adrenal hyperplasia (CAH) is a common genetic disorder due to defective 21-hydroxylation of steroid hormones. The human P450XXIA2 gene encodes cytochrome P450c21 [steroid 21-monooxygenase (steroid 21-hydroxylase)], which mediates 21-hydroxylation. The P450XXIA2 gene may be distinguished from the duplicated P450XXIA1 pseudogene by cleavage with the restriction endonuclease Taq I, with the XXIA2 gene characterized by a 3.7-kilobase (kb) fragment and the XXIA1 pseudogene characterized by a 3.2-kb fragment. Restriction endonuclease mapping by several laboratories has suggested that deletion of the P450XXIA2 gene occurs in about 25% of patients with CAH, as their genomic DNA lacks detectable 3.7-kb Taq I fragments. The authors have cloned human P450c21 cDNA and used it to study genomic DNA prepared from 51 persons in 10 families, each of which includes 2 or more persons with CAH. After Taq I digestion, apparent deletions are seen in 7 of the 20 alleles of the probands; using EcoRI, apparent deletions are seen in 9 of the 20 alleles. However, the apparently deleted alleles seen with Taq I do not coincide with those seen with EcoRI. Furthermore, studies with Bgl II, EcoRI, Kpn I, and Xba I yield normal patterns with at least two enzymes in all cases. Since all probands yielded normal patterns with at least two of the five enzymes used, they conclude that the P450XXIA2 gene deletions widely reported in CAH patients probably represent gene conversions, unequal crossovers,or polymorphisms rather than simple gene deletions

  19. Impact of food, alcohol and pH on modified-release hydrocortisone developed to treat congenital adrenal hyperplasia.

    Science.gov (United States)

    Karunasena, Nayananjani; Margetson, Daniel N; Neal, Greg; Whitaker, Martin J; Ross, Richard Jm

    2017-04-01

    We developed a modified-release hydrocortisone, Chronocort, to replace the cortisol rhythm in patients with congenital adrenal hyperplasia. Food, alcohol and pH affect drug absorption, and it is important to assess their impact when replicating a physiological rhythm. In vitro dissolution to study impact of alcohol and pH on Chronocort. A phase 1, three-period, cross over study in 18 volunteers to assess the impact of food on Chronocort and to compare bioavailability to immediate-release hydrocortisone. In vitro dissolution of Chronocort was not affected by gastrointestinal pH up to 6.0 nor by an alcohol content up to 20% v/v. Food delayed and reduced the rate of absorption of Chronocort as reflected by a longer T max (fed vs fasted: 6.75 h vs 4.5 h, P  = 0005) and lower C max (549.49 nmol/L vs 708.46 nmol/L, ratio 77% with CI 71-85). Cortisol exposure was similar in fed and fasted state: Geo LSmean ratio (CI) AUC 0t for fed/fasted was 108.33% (102.30-114.72%). Cortisol exposure was higher for Chronocort compared to immediate-release hydrocortisone: Geo LSmean ratios (CI) 118.83% (111.58-126.54%); however, derived free cortisol showed cortisol exposure CIs were within 80.0-125.0%: Geo LSmean ratio (CI) for AUC 0t 112.73% (105.33-120.65%). Gastric pH ≤6.0 and alcohol do not affect hydrocortisone release from Chronocort. Food delays Chronocort absorption, but cortisol exposure is similar in the fasted and fed state and exposure as assessed by free cortisol is similar between Chronocort and immediate-release hydrocortisone. © 2017 The authors.

  20. Gendered Peer Involvement in Girls with Congenital Adrenal Hyperplasia: Effects of Prenatal Androgens, Gendered Activities, and Gender Cognitions.

    Science.gov (United States)

    Berenbaum, Sheri A; Beltz, Adriene M; Bryk, Kristina; McHale, Susan

    2018-05-01

    A key question in understanding gender development concerns the origins of sex segregation. Children's tendencies to interact with same-sex others have been hypothesized to result from gender identity and cognitions, behavioral compatibility, and personal characteristics. We examined whether prenatal androgen exposure was related to time spent with boys and girls, and how that gendered peer involvement was related to sex-typed activities and gender identity and cognitions. We studied 54 girls with congenital adrenal hyperplasia (CAH) aged 10-13 years varying in degree of prenatal androgen exposure: 40 girls with classical CAH (C-CAH) exposed to high prenatal androgens and 14 girls with non-classical CAH (NC-CAH) exposed to low, female-typical, prenatal androgens. Home interviews and questionnaires provided assessments of gendered activity interests and participation, gender identity, and gender cognitions. Daily phone calls over 7 days assessed time spent in gendered activities and with peers. Girls with both C-CAH and NC-CAH interacted more with girls than with boys, with no significant group differences. The groups did not differ significantly in gender identity or gender cognitions, but girls with C-CAH spent more time in male-typed activities and less time in female-typed activities than did girls with NC-CAH. Time spent with girls reflected direct effects of gender identity/cognitions and gender-typed activities, and an indirect effect of prenatal androgens (CAH type) through gender-typed activities. Our results extend findings that prenatal androgens differentially affect gendered characteristics and that gendered peer interactions reflect combined effects of behavioral compatibility and feelings and cognitions about gender. The study also shows the value of natural experiments for testing hypotheses about gender development.

  1. Functional studies of novel CYP21A2 mutations detected in Norwegian patients with congenital adrenal hyperplasia

    Science.gov (United States)

    Brønstad, Ingeborg; Breivik, Lars; Methlie, Paal; Wolff, Anette S B; Bratland, Eirik; Nermoen, Ingrid; Løvås, Kristian; Husebye, Eystein S

    2014-01-01

    In about 95% of cases, congenital adrenal hyperplasia (CAH) is caused by mutations in CYP21A2 gene encoding steroid 21-hydroxylase (21OH). Recently, we have reported four novel CYP21A2 variants in the Norwegian population of patients with CAH, of which p.L388R and p.E140K were associated with salt wasting (SW), p.P45L with simple virilising (SV) and p.V211M+p.V281L with SV to non-classical (NC) phenotypes. We aimed to characterise the novel variants functionally utilising a newly designed in vitro assay of 21OH enzyme activity and structural simulations and compare the results with clinical phenotypes. CYP21A2 mutations and variants were expressed in vitro. Enzyme activity was assayed by assessing the conversion of 17-hydroxyprogesterone to 11-deoxycortisol by liquid chromatography tandem mass spectroscopy. PyMOL 1.3 was used for structural simulations, and PolyPhen2 and PROVEAN for predicting the severity of the mutants. The CYP21A2 mutants, p.L388R and p.E140K, exhibited 1.1 and 11.3% of wt 21OH enzyme activity, respectively, in vitro. We could not detect any functional deficiency of the p.P45L variant in vitro; although prediction tools suggest p.P45L to be pathogenic. p.V211M displayed enzyme activity equivalent to the wt in vitro, which was supported by in silico analyses. We found good correlations between phenotype and the in vitro enzyme activities of the SW mutants, but not for the SV p.P45L variant. p.V211M might have a synergistic effect together with p.V281L, explaining a phenotype between SV and NC CAH. PMID:24671123

  2. Gender role behavior, sexuality, and psychosocial adaptation in women with congenital adrenal hyperplasia due to CYP21A2 deficiency.

    Science.gov (United States)

    Frisén, Louise; Nordenström, Anna; Falhammar, Henrik; Filipsson, Helena; Holmdahl, Gundela; Janson, Per Olof; Thorén, Marja; Hagenfeldt, Kerstin; Möller, Anders; Nordenskjöld, Agneta

    2009-09-01

    Gender-atypical behavior has been described in young girls as well as in women with congenital adrenal hyperplasia (CAH) due to a CYP21A2 deficiency. The aim of the study was to assess health-related, psychosexual, and psychosocial parameters and correlate the results to CYP21A2 genotype. Sixty-two Swedish women with CAH and age-matched controls completed a 120-item questionnaire and a validated quality of life instrument [psychological general well-being (PGWB) formula] to identify psychosexual and psychosocial parameters. The patients were divided into four CYP21A2 genotype groups. The women with CAH held more male-dominant occupations (30%) compared to controls (13%) (P = 0.04), especially those in the null genotype group (55%) (P = 0.006). They also reported a greater interest in rough sports (74%) compared to controls (50%) (P = 0.007). Eight women with CAH (14%) reported a prime interest in motor vehicles, compared to none of the controls (P = 0.002). Non-heterosexual orientation was reported by 19% of women with CAH (P = 0.005), 50% in the null genotype group (P = 0.0001), 30% in I2 splice (NS), and 5% in I172N (NS). PGWB total score did not differ between patients and controls. We identified increased gender-atypical behavior in women with CAH that could be correlated to the CYP21A2 genotype. This speaks in favor of dose-dependent effects of prenatal androgens on the development of higher brain functions. The impact of the disease on upbringing and interpersonal relationships did not correlate with disease severity, indicating that other factors, such as coping strategies, are important for psychosocial adaptation. This illustrates the need for psychological support to parents and patients.

  3. Interrelationships among cortisol, 17-hydroxyprogesterone, and androstenendione exposures in the management of children with congenital adrenal hyperplasia.

    Science.gov (United States)

    Sarafoglou, Kyriakie; Zimmerman, Cheryl L; Gonzalez-Bolanos, Maria T; Willis, Brian A; Brundage, Richard

    2015-01-01

    Hydrocortisone is the standard replacement therapy for children with congenital adrenal hyperplasia (CAH). Relationships between cortisol exposures and pharmacodynamic responses of 17-hydroxyprogesterone and androstenedione exposures have not been systematically evaluated. (1) Assess individual oral hydrocortisone pharmacokinetics; (2) relate the observed cortisol exposure in each subject to the observed exposures of 17-hydroxyprogesterone and androstenedione; (3) determine potential individualized treatment regimens based on each subject's pharmacokinetic and pharmacodynamic parameters. Thirty-four patients (18 boys, 16 girls, aged 1.4 to 18.1 years) with CAH underwent 6-hour pharmacokinetic studies. Results were analyzed by noncompartmental methods to obtain the area under the curve (AUC) for cortisol, 17-hydroxyprogesterone, and androstenedione; maximum concentration and time-to-maximum concentration for cortisol; and minimum and time-to-minimum concentration for 17-hydroxyprogesterone and androstenedione. Mean (SD) cortisol half-life and Cmax were 1.01 (0.20) hours and 24.4 (5.4) μg/dL, respectively. The AUCs for cortisol, 17-hydroxyprogesterone and androstenedione were 40.8 (14.5) μg hour/dL, 29,490 (23,539) ng hour/dL, and 680 (795) ng hour/dL, respectively. No significant relationships existed between cortisol AUCs and the AUCs of either 17-hydroxyprogesterone (P=0.32) or androstenedione (P=0.99); nor were there differences between the change-from-baseline concentrations for cortisol with either 17-hydroxyprogesterone (P=0.80) or androstenedione (P=0.40). Cortisol simulations indicated that although four daily doses decreased 24-hour hypercortisolemia and hypocortisolemia, substantial periods of each remained. Concentration profiles of cortisol, 17-hydroxyprogesterone, and androstenedione are highly variable in children with CAH, and knowledge of them can assist in personalizing the therapy of CAH patients. Hydrocortisone's rapid half-life and the lack of

  4. Comparison of different glucocorticoid regimens in the management of classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

    Science.gov (United States)

    Ajish, T P; Praveen, V P; Nisha, B; Kumar, Harish

    2014-11-01

    There are recommendations regarding the total dose of hydrocortisone to be administered in the treatment of classical congenital adrenal hyperplasia (CAH) to achieve the twin objectives of glucocorticoid replacement and control of hyperandrogenism. However, there is evidence gap regarding the breakup, timing and type of the steroid regimen. Efficacy of three different glucocorticoid regimens having the same total dose of steroid, differing in either the timing or type of evening steroid administered, in achieving biochemical control of the disease was assessed. The study was done in 13 prepubertal children with classical CAH over a 6-month period with 2 months devoted to each regimen. We used a prospective cross-over design using 10-15 mg/m(2) total dose of hydrocortisone. Two-fifths of the total dose of hydrocortisone was administered in the morning and one-fifth of the total dose was administered at noon in all the regimens. The regimens differed in the timing of the evening dose of hydrocortisone, 06.00-07.00 pm in regimen 1 and 09.00-10.00 pm in regimen 2. The third regimen had the evening dose of hydrocortisone replaced by an equivalent dose of prednisolone suspension which was administered at 10.00 pm. Serum 17-hydroxyprogesterone and testosterone levels were compared to assess the efficacy of treatment regimens. The three different regimens were found to be similar in their ability to control 17-hydroxyprogesterone and testosterone levels. The percentage of patients with predefined criteria for biochemically controlled disease was similar in all the three regimens. However, there was a trend toward better control of 17-hydroxyprogesterone levels in patients receiving evening dose of prednisolone. There is no significant advantage in administering the hydrocortisone dose late at night in patients with classical CAH.

  5. Reconstructive surgery for females with congenital adrenal hyperplasia due to 21-hydroxylase deficiency: a review from the Prince of Wales Hospital.

    Science.gov (United States)

    Houben, C H; Tsui, S Y; Mou, J W; Chan, K W; Tam, Y H; Lee, K H

    2014-12-01

    To present the results of feminising genitoplasty done in female patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Case series. A tertiary referral centre in Hong Kong. Female patients with congenital adrenal hyperplasia undergoing corrective surgery for virilisation between 1993 and 2012. The operative result was judged with a scoring system (1-3) for four areas: appearance of clitoris, labia and vagina, plus requirement for revision surgery. A total of 23 female patients with congenital adrenal hyperplasia with a median age of 17.5 (range, 1.5-33.8) years were identified. Of these individuals, 17 presented in the neonatal period and early infancy, of which four had an additional salt-losing crisis. Six patients-including four migrants from mainland China-were late presenters at a median age of 2 (range, 0.5-14) years. Twenty-two patients had corrective surgery at a median age of 2 (range, 1-14) years. Clitoral reduction was performed in all, and further surgery in 21 patients. The additional surgery was flap vaginoplasty in 10 patients, a modified Passerini procedure in six, and a labial reconstruction in five; one patient with prominent clitoris was for observation only. Minor revision surgery (eg mucosal trimming) was required in three patients; a revision vaginoplasty was done in one individual. Of the 23 patients, 18 (78%) with a median age of 20 (range, 9.3-33.8) years participated in the outcome evaluation: a 'good' outcome (4 points) was seen in 12 patients and a 'satisfactory' (5-9 points) result in five patients. Nearly three quarters of our cohort (n=17) presented with classic virilising form of 21-hydroxylase deficiency. Only four (25%) patients experienced a salt-losing crisis. Female gender assignment at birth was maintained for all individuals in this group. 'Good' and 'satisfactory' outcomes of surgery were reported in nearly all participants.

  6. Improvement of semen quality in an infertile man with 21-hydroxylase deficiency, suppressed serum gonadotropins and testicular adrenal rest tumours

    DEFF Research Database (Denmark)

    Mouritsen, Annette; Juul, Anders; Jørgensen, Niels

    2010-01-01

    Here, we report improvement of semen quality in a 30-year-old man with congenital adrenal hyperplasia (CAH) because of 21-hydroxylase deficiency, bilateral testicular adrenal rest tumours (TART) and a 1.5-year infertility history. His adrenal substitution therapy was changed from hydrocortisone 10...... for the presence of TART and disturbed reproductive hormones levels, leading to impaired semen quality. Optimizing the medical treatment may at least in some cases improve fecundity....

  7. A case of treatment in a patient with synchronous bilateral renal cell carcinoma and simultaneous metastatic involvement of both adrenal glands: Clinical observation

    Directory of Open Access Journals (Sweden)

    V. R. Latypov

    2014-11-01

    Full Text Available Synchronous bilateral renal cell carcinoma occurs in 1.4 % of cases. The probability of bilateral adrenal metastases from renal cell carcinoma is less than 0.5 %. The clinical observation presents a case of synchronous bilateral renal cell carcinoma and simultaneous metastatic involvement of both adrenal glands. A 55‑year-old male patient was adm tted with the signs of hematuria and anemia to the Unit of Urology, Clinic of General Surgery, Siberian State Medical University. He was found to have synchronous bilateral renal cell carcinoma and simultaneous bilateral adrenal involvement. Sequential surgical treatment – radical nephrectomy (with adrenal gland removal on the right side and, after 3 months, adrenalectomy and kidney resection on the left side were performed. All the organs removed displayed tumors that proved to be renal cell carcinomas (a clear cell variant. There were lymph node metastases in the right-sided renal portal. Postoperatively, the investigators performed hormone replacement therapy for adrenal insufficiency, an immunotherapy cycle, three cycles of targeted therapy withsorafenib and sunitinib (at an interval of 0.5–2 years, and insulin therapy for new-onset diabetes mellitus. The duration of a follow-up was 6.2 years. When describing the case, the patient was alive and showed a generalized tumorous process with extensive tumor involvement of the solitary kidney. Sunitinib therapy was used.

  8. A case of treatment in a patient with synchronous bilateral renal cell carcinoma and simultaneous metastatic involvement of both adrenal glands: Clinical observation

    Directory of Open Access Journals (Sweden)

    V. R. Latypov

    2014-01-01

    Full Text Available Synchronous bilateral renal cell carcinoma occurs in 1.4 % of cases. The probability of bilateral adrenal metastases from renal cell carcinoma is less than 0.5 %. The clinical observation presents a case of synchronous bilateral renal cell carcinoma and simultaneous metastatic involvement of both adrenal glands. A 55‑year-old male patient was adm tted with the signs of hematuria and anemia to the Unit of Urology, Clinic of General Surgery, Siberian State Medical University. He was found to have synchronous bilateral renal cell carcinoma and simultaneous bilateral adrenal involvement. Sequential surgical treatment – radical nephrectomy (with adrenal gland removal on the right side and, after 3 months, adrenalectomy and kidney resection on the left side were performed. All the organs removed displayed tumors that proved to be renal cell carcinomas (a clear cell variant. There were lymph node metastases in the right-sided renal portal. Postoperatively, the investigators performed hormone replacement therapy for adrenal insufficiency, an immunotherapy cycle, three cycles of targeted therapy withsorafenib and sunitinib (at an interval of 0.5–2 years, and insulin therapy for new-onset diabetes mellitus. The duration of a follow-up was 6.2 years. When describing the case, the patient was alive and showed a generalized tumorous process with extensive tumor involvement of the solitary kidney. Sunitinib therapy was used.

  9. A case of Addison's disease accompanied with bilateral adrenal calcification on CT

    International Nuclear Information System (INIS)

    Lee, Li-Chik; Fujita, Naohisa; Ohba, Yachiyo

    1985-01-01

    A 62-year-old woman was admitted to our hospital with complaints of general malaise and hyperpigmentation. We diagnosed her case as primary adrenocortical insufficiency (Addison's disease) by endocrinological studies. CT demonstrated dense calcification in both adrenal beds without evidence of normal glandular remnants. Calcified adrenal is not specific to tuberculosis, but some points of CT findings are useful for pathogenetic approach. Recently, there have been several reports that ACTH producing pituitary tumors develop in patients treated with conventional corticosteroid replacement. Corticosteroid should be administered by monitoring of plasma cortisol and ACTH concentrations. (author)

  10. Congenital Adrenal Hyperplasia due to 17-alpha-hydoxylase/17,20-lyase Deficiency Presenting with Hypertension and Pseudohermaphroditism: First Case Report from Oman

    Directory of Open Access Journals (Sweden)

    Waad-Allah S. Mula-Abed

    2014-01-01

    Full Text Available This is the first report of congenital adrenal hyperplasia (CAH due to combined 17α-hydroxylase/17,20 lyase deficiency in an Omani patient who was initially treated for many years as a case of hypertension. CAH is an uncommon disorder that results from a defect in steroid hormones biosynthesis in the adrenal cortex. The clinical presentation depends on the site of enzymatic mutations and the types of accumulated steroid precursors. A 22-year-old woman who was diagnosed to have hypertension since the age of 10 years who was treated with anti-hypertensive therapy was referred to the National Diabetes and Endocrine Centre, Royal Hospital, Oman. The patient also had primary amenorrhea and features of sexual infantilism. Full laboratory and radio-imaging investigations were done. Adrenal steroids, pituitary function and karyotyping study were performed and the diagnosis was confirmed by molecular mutation study. Laboratory investigations revealed adrenal steroids and pituitary hormones profile in addition to 46XY karyotype that are consistent with the diagnosis of CAH due to 17α-hydroxylase deficiency. Extensive laboratory workup revealed low levels of serum cortisol (and its precursors 17α-hydroxyprogesterone and 11-deoxycortisol, adrenal androgens (dehydroepiandrosterone sulfate and androstenedione, and estrogen (estradiol; and high levels of mineralocorticoids precursors (11-deoxycorticosterone and corticosterone with high levels of ACTH, FSH and LH. Mutation analysis revealed CYP17A1-homozygous mutation (c.287G>A p.Arg96Gln resulting in the complete absence of 17α-hydroxylase/17,20-lyase activity. The patient was treated with dexamethasone and ethinyl estradiol with cessation of anti-hypertensive therapy. A review of the literature was conducted to identify previous studies related to this subtype of CAH. This is the first biochemically and genetically proven case of CAH due to 17α-hydroxylase/17,20-lyase deficiency in Oman and in the Arab

  11. Bilateral primary adrenal lymphoma with central nervous system involvement: a case report

    International Nuclear Information System (INIS)

    Nacif, Marcelo Souto; Heizer, Marcia; Nahime, Carolina Benvegnu; Santos, Alair Augusto Sarmet Moreira Damas dos

    2005-01-01

    The authors review the main findings of primary adrenal lymphoma on abdominal and brain computed tomography (CT) scans and brain magnetic resonance imaging (MRI), and report a rare case of a 72-year-old male patient with deterioration in mental status progressing from recent memory loss to disorientation and ultimately dementia in a period of two months. The patient was investigated using imaging methods including brain (without intravenous administration of iodinated contrast media), chest and abdomen (pre and post intravenous administration of iodinated contrast media) CT scans and brain MRI (pre and post intravenous administration of gadolinium). Brain CT scan showed slightly hyperdense nodules adjacent to the lateral ventricles. No gross abnormalities were seen on the chest CT scan. CT of the abdomen showed solid nodules on both adrenals. Brain MRI showed diffuse nodular enhancement of the ependyma of the fourth ventricle, third ventricle, frontal and temporal horns, atria and body of the lateral ventricles. Definitive diagnosis was made by immunohistochemical study of the biopsed adrenal. After a comprehensive review of the literature the authors concluded that CT and MRI are essential methods for the detection and accurate evaluation of primary adrenal lymphomas, particularly when there is involvement of the central nervous system. MRI is more sensitive in the detection of extracerebral lesions in the epidural and subdural spaces, especially after intravenous administration of gadolinium. (author)

  12. Congenital adrenal hyperplasia

    Science.gov (United States)

    ... at birth. However, they may appear to enter puberty early. Symptoms may include: Deepening voice Early appearance of pubic or armpit hair Enlarged penis but normal testes Well-developed muscles Both boys ...

  13. [Congenital adrenal hyperplasia due to lack of 17α-hydroxylase: a report of a new mutation in the gene CYP17A1].

    Science.gov (United States)

    Perales Martínez, J I; Pina Marqués, B; de Arriba Muñoz, A; Mayayo Dehesa, E; Labarta Aizpún, J I; Loidi Fernández, L

    2015-01-01

    P450c17 enzyme catalyses two different reactions: the 17α-hydroxylation of progesterone and pregnenolone, and segmenting the carbon 17-20 binding from the 17,20lyase producing adrenal androgens. This enzyme is coded by the CYP17A1 gene. The case is presented of a 14 year old patient with delayed pubertal development and a high blood pressure for height and age. 46,XX karyotype. Hormonal studies highlighted hypergonadotropic hypogonadism, adrenal insufficiency and mineralocorticoid excess. Subsequent genetic studies showed a homozygous mutation in the CYP17A1 gene (c.753+G>A), not previously described, which is responsible for the pathophysiology of 17α-hydroxylase deficiency. This entity is a rare form of congenital adrenal hyperplasia. The disease often goes unnoticed until adolescence or early adult life, and should be suspected in 46,XY individuals with ambiguous genitalia or 46,XX with delayed puberty associated with hypertension and/or hypokalaemia. Copyright © 2013 Asociación Española de Pediatría. Published by Elsevier Espana. All rights reserved.

  14. Selenium-75-cholesterol imaging and computed tomography of the adrenal glands in differentiating the cause of Cushing's syndrome

    International Nuclear Information System (INIS)

    Miller, J.L.; Smith, J.A.; Mervis, B.; Roman, T.

    1983-01-01

    Measurement of 75 Se-cholesterol (Scintadren) uptake and computed tomography (CT) of the adrenal glands were compared as a means of differentiating the cause of Cushing's syndrome in 11 patients over a 2-year period. Quantitative Scintadren imaging differentiated adrenocorticotrophic hormone (ACTH)-dependent disease from local adrenocortical lesions as the cause of Cushing's syndrome in all the patients studied. CT of the adrenal glands rapidly and accurately detected the adrenal mass lesions in 2 cases and was effective in documenting bilateral hyperplasia due to ectopic ACTH-dependent disease. However, in entopic ACTH (pituitary)-dependent disease the adrenal glands were of normal thickness in all but 2 patients, who had bilateral hyperplasia. Scintadren imaging and CT are useful non-invasive procedures for differentiating local adrenal disease from ACTH-dependent disease as the cause of Cushing's syndrome and should be the initial investigations once a firm clinical and biochemical diagnosis of Cushing's syndrome has been made

  15. A NEW CLINICAL PREDICTION CRITERION ACCURATELY DETERMINES A SUBSET OF PATIENTS WITH BILATERAL PRIMARY ALDOSTERONISM BEFORE ADRENAL VENOUS SAMPLING.

    Science.gov (United States)

    Kocjan, Tomaz; Janez, Andrej; Stankovic, Milenko; Vidmar, Gaj; Jensterle, Mojca

    2016-05-01

    Adrenal venous sampling (AVS) is the only available method to distinguish bilateral from unilateral primary aldosteronism (PA). AVS has several drawbacks, so it is reasonable to avoid this procedure when the results would not affect clinical management. Our objective was to identify a clinical criterion that can reliably predict nonlateralized AVS as a surrogate for bilateral PA that is not treated surgically. A retrospective diagnostic cross-sectional study conducted at Slovenian national endocrine referral center included 69 consecutive patients (mean age 56 ± 8 years, 21 females) with PA who underwent AVS. PA was confirmed with the saline infusion test (SIT). AVS was performed sequentially during continuous adrenocorticotrophic hormone (ACTH) infusion. The main outcome measures were variables associated with nonlateralized AVS to derive a clinical prediction rule. Sixty-seven (97%) patients had a successful AVS and were included in the statistical analysis. A total of 39 (58%) patients had nonlateralized AVS. The combined criterion of serum potassium ≥3.5 mmol/L, post-SIT aldosterone AVS. The best overall classification accuracy (50/67 = 75%) was achieved using the post-SIT aldosterone level AVS. Our clinical prediction criterion appears to accurately determine a subset of patients with bilateral PA who could avoid unnecessary AVS and immediately commence with medical treatment.

  16. Effect of large doses of 131I-19-iodocholesterol on metapyralone-induced adrenal cortical hyperplasia in dogs

    International Nuclear Information System (INIS)

    Anderson, B.G.; Beierwaltes, W.H.; Nishiyama, R.H.; Ice, R.D.

    1975-01-01

    The potential use of 131 I-19-iodocholesterol to treat ACTH excess Cushing's disease was evaluated in the dog. Three normal female dogs were given LD 50 radiation doses of 131 I-19-iodocholesterol without producing gross or histopathologically demonstrable change of the adrenals at autopsy 3 months later. The adrenal cortices of three dogs were made hyperplastic (to simulate the adrenal cortex in Cushing's disease) with ACTH and three with Metapyralone. In addition these six dogs were given LD 50 doses of 131 I-19-iodocholesterol. Three months after treatment, the adrenal glands of the ACTH-treated dogs were not enlarged, the cortex was thicker than normal, and there were no changes attributable to irradiation. At 3 months, the Metapyralone-treated dogs had enlarged adrenals, widening of the adrenal cortex, and no necrosis or other changes attributable to irradiation. It is concluded that a therapeutic trial of 131 I-19-iodocholesterol in the treatment of Cushing's disease is not indicated. (auth)

  17. Scintigraphy and venous sampling in endocrine adrenal diseases. Clinical results in 85 patients

    International Nuclear Information System (INIS)

    Feltrin, G.P.; Maffessanti, M.; Miotto, D.; Mantero, F.; Macri, G.; Romani, S.

    1979-01-01

    The results obtained by adrenal scanning and venous sampling in 85 patients affected by various forms of adrenal pathology are reported and discussed. Pheochromocytoma rarely needs venous catheterization and blood sampling, since arteriography is almost always capable to visualize it. Scintigraphy alone is generally accurate enough to distinguish between bilateral hyperplasia and tumors in Cushing's and adrenogenital syndromes (100% of personal observations); only a tumoral situation benefits by venous catheterization. Blood samples and venography must be preceded by scintigraphy in Conn's syndrome

  18. Assembling a Functional Clitoris and Vulva from a Pseudo-Penis: A Surgical Technique for an Adult Woman with Congenital Adrenal Hyperplasia.

    Science.gov (United States)

    Tjalma, Wiebren A A

    2017-06-01

    Congenital adrenal hyperplasia (CAH) is associated with a genital deformation that might cause a negative body image. The genital ambiguity is generally "corrected" surgically during early infancy. The advantage is a psychological benefit. The disadvantages are multiple surgical procedures and the loss of orgasm. A 22-year-old woman with CAH consulted for genital reconstructive surgery. She had a pseudopenis of 4 cm and could achieve an orgasm by masturbating. During surgery, the penis was dismantled and with the preserved glans penis and the corpora cavernosa, a clitoris and vestibules were constructed, respectively. On the basis of the anamneses during the follow-up, she had a functional vagina and could still achieve orgasms. Genital correction surgery for CAH at an older age was easier, could be done in 1 step, and enabled the preservation of orgasm. Copyright © 2016 North American Society for Pediatric and Adolescent Gynecology. Published by Elsevier Inc. All rights reserved.

  19. A patient with Alzheimer's disease complicated by elderly-onset Cushing's syndrome who had undergone surgical treatment for adrenocorticotropic hormone-independent macronodular adrenal hyperplasia.

    Science.gov (United States)

    Haraguchi, Yoshinori; Mizoguchi, Yoshito; Noguchi, Tomoyuki; Arai, Takeo; Fukuyama, Junko; Kato, Takahiro A; Kawashima, Toshiro; Monji, Akira

    2016-07-01

    Cushing's syndrome (CS) is a rare disorder, especially in older people. Loss of brain volume and neurocognitive impairment of varying degrees has been demonstrated in patients with CS. However, there is a large difference between the median age of presentation of CS and that of Alzheimer's disease. We herein report a case of a patient with Alzheimer's disease complicated by elderly-onset CS who had undergone surgical treatment for adrenal hyperplasia. Surgical correction of hypercortisolism seems to have slowed the progression of brain volume loss and cognitive dysfunction and improved psychiatric symptoms such as visual hallucination, restlessness, and psychomotor excitement. These improvements have remarkably reduced the burden on the patient's caregivers. The present case suggests that subclinical CS may be present, particularly in rapidly progressive dementia, and that surgical treatment of CS for neuropsychiatric symptoms is useful. © 2015 The Authors. Psychogeriatrics © 2015 Japanese Psychogeriatric Society.

  20. Roux-en-Y gastric bypass in the treatment of non-classic congenital adrenal hyperplasia due to 11-hydroxylase deficiency.

    Science.gov (United States)

    Kalani, Amir; Thomas, Nithin; Sacerdote, Alan; Bahtiyar, Gül

    2013-03-18

    Non-classic adrenal hyperplasia (NCAH) has been associated with insulin resistance (IR). Therapies such as metformin, thiazolidinediones and lifestyle alterations improve IR and also ameliorate the biochemical and clinical abnormalities of NCAH, much as they do in polycystic ovarian syndrome (PCOS). More recently, bariatric surgery, such as Roux-en-Y gastric bypass (RYGBP), has also been associated with improvement in IR and amelioration of PCOS and may, therefore, be beneficial in NCAH. We report a case of a 39-year-old, deaf-mute, obese woman with NCAH due to 11-hydroxylase deficiency who underwent RYGBP followed by improvement of NCAH manifestations. She was initially treated with metformin and pioglitazone, which lowered serum 11-deoxycortisol from 198 ng/dl (irregular menses normalised as well. We conclude that RYGBP, like other interventions that reduce IR, may be another way of treating non-classic 11-hydroxylase deficiency in selected patients.

  1. Review of Outcome Information in 46,XX Patients with Congenital Adrenal Hyperplasia Assigned/Reared Male: What Does It Say about Gender Assignment?

    Directory of Open Access Journals (Sweden)

    Lee PeterA

    2010-12-01

    Full Text Available There is ample historical verification of 46,XX congenital adrenal hyperplasia (CAH patients being born with essentially male genitaliawhile outcome information is scant. Prior to glucocorticoid therapy, most patients died very young from adrenal insufficiency. Most available reports from laterchildhood, contain little information concerning sexual identity. Reports on older individuals lack adequate information about sexual identity and quality of life. The difficulty in assessing the relative impact of multiple dynamic environmental factors on the development of sexual identity, self- and body esteem and overall adjustment to life is clear. Nevertheless, it remains unclear whether those infants whose masculine genitalia at birth resulted in an initial male assignment would have enjoyed a better adult outcome had they been allowed to remain male rather than the female reassignment that most received. Further, one could ask whether a male sex of rearing should be considered in 46,XX CAH infants with male external genitalia. After reviewing available literature, we conclude that because those extremely virlized 46,XX CAH patients who were reared male with healthy social support demonstrated satisfactory levels of social and sexual function as adults a male sex assignment should be considered in these types of infants when social and cultural environment are supportive.

  2. Growth hormone therapy alone or in combination with gonadotropin-releasing hormone analog therapy to improve the height deficit in children with congenital adrenal hyperplasia.

    Science.gov (United States)

    Quintos, J B; Vogiatzi, M G; Harbison, M D; New, M I

    2001-04-01

    Short stature in the adult patient with congenital adrenal hyperplasia (CAH) is commonly seen, even among patients in excellent adrenal control during childhood and puberty. In this study we examine the effect of GH therapy on height prediction in children with both CAH and compromised height prediction. Leuprolide acetate, a GnRH analog (GnRHa), was given to patients with evidence of early puberty. GH (n = 12) or the combination of GH and GnRHa (n = 8) was administered to 20 patients with CAH while they continued therapy with glucocorticoids. Each patient in the treatment group was matched according to age, sex, bone age, puberty, and type of CAH with another CAH patient treated only with glucocorticoid replacement. The match was made at the start of GH treatment. Of the 20 patients, 12 have completed 2 yr of therapy. After 1 yr of GH or combination GH and GnRHa therapy, the mean growth rate increased from 5 +/- 1.9 to 7.8 +/- 1.6 cm/yr vs. 5.4 +/- 1.7 to 5 +/- 2 cm/yr in the group not receiving GH (P growth rate was 6 +/- 1.6 vs. 4.2 +/- 2.1 cm/yr in the group not receiving GH (P growth rate and height prediction and a reduction in height deficit for bone age.

  3. Computed tomography in the diagnosis of adrenal disease

    International Nuclear Information System (INIS)

    Hirosawa, Kunihiro

    1980-01-01

    From June 1977 through June 1980, sixty-one patients who were suspected to have adrenal diseases were examined with a CT scanner at Tokyo Women's Medical College. They consist of twenty five primary hyperaldosteronism, eight Cushing's syndrome, twenty pheochromocytoma and eight other adrenal masses. Ten patients were unexpectedly found to have adrenal lesion or mass simulating an adrenal tumor on CT performed for other reasons. CT findings were reviewed and correlated with surgical findings, postmortem studies and with results of other diagnostic modalities. 1. Primary hyperaldosteronism. Fifteen of twenty-five patients underwent surgery. Thirteen were pathologically proved to have aldosteronoma and two hyperplasia. Ten of thirteen patients with aldosteronoma were correctly diagnosed by CT scan. 2. Cushing's syndrome. Unilateral adenoma was correctly diagnosed preoperatively by CT scan on two surgically proved cases. CT showed marked enlargement of the adrenal gland with multiple nodules measuring less than 2 cm in diameter in the patient with nodular hyperplasia. Four patients were found to have normal-appearing adrenals with CT scan. 3. Pheochromocytoma. Three adrenal and one juxta-adrenal pheochromocytomas were detected by CT scan. Pheochromocytoma was considered as very unlikely on the basis of CT scan as well as further clinical investigation in sixteen patients. The value of CT scan for localization of extraadrenal pheochromocytoma remains established. 4. Miscellaneous adrenal disease and extra-adrenal masses simulating adrenal lesions. Two primary carcinoma, two bilateral metastasis, two adrenal neuroblastoma and a cyst were detected by CT scan. In cases with a huge mass, however, the origin and histologic diagnosis could not always be determined by CT scan. (author)

  4. Validity of computerized tomography in adrenal diseases

    International Nuclear Information System (INIS)

    Galanski, M.; Cramer, B.M.; Vetter, H.

    1981-01-01

    For diagnosis of adenomas in primary aldosteronism CT proved to be helpful. Although microadenomas have to be ruled out by selective venous sampling from both adrenal glands adenomas down to 8 mm in diameter can be visualized. Scintigraphy does not always permit reliable differentiation of unilateral adenoma from bilateral hyperplasia. - In endogenous Cushing's syndrome adrenal carcinomas are underlying etiologically in about 10% of the cases. Since carcinomas are detected easily by CT it should be performed in the first place. Whereas adenomas and hyperplasia are easily diagnosed by scintigraphy carcinomas may escape scintigraphy. - Pheochromocytomas, if situated in the vicinity of the kidneys, can be localiced safely by CT. Contrary to adenomas, carcinomas and pheochromocytomas may be detected by CT without difficulty because of their size. (orig.) [de

  5. Gonadal development and growth in 46,XX and 46,XY individuals with P450scc deficiency (congenital lipoid adrenal hyperplasia)

    DEFF Research Database (Denmark)

    Müller, J; Torsson, A; Damkjaer Nielsen, M

    1991-01-01

    We have investigated gonadal development and growth in 4 individuals (3 with 46,XY and 1 with 46,XX karyotype) with P450scc deficiency. One patient died at 2 months of age from adrenal insufficiency, while the remaining 3 individuals were healthy and developed normally (age at follow-up: 18, 10...... and 8 years). In the surviving individuals, the diagnosis was established during the first 2-4 months of life by extensive endocrine studies of blood and urine. In the remaining patient, the diagnosis was made on the basis of karyotype (46,XY), anatomy of internal and external genitalia and adrenal...... pathology. Gonadectomy was performed in the 2 surviving 46,XY individuals at the age of 7 years, and histological examination showed normal testicular morphology but very few germ cells. Postmortem examination of the testes of the 2-month-old subject showed normal testicular histology, and quantitative...

  6. The diversity of abnormal hormone receptors in adrenal Cushing's syndrome allows novel pharmacological therapies

    Directory of Open Access Journals (Sweden)

    Lacroix A.

    2000-01-01

    Full Text Available Recent studies from several groups have indicated that abnormal or ectopic expression and function of adrenal receptors for various hormones may regulate cortisol production in ACTH-independent hypercortisolism. Gastric inhibitory polypeptide (GIP-dependent Cushing's syndrome has been described in patients with either unilateral adenoma or bilateral macronodular adrenal hyperplasia; this syndrome results from the large adrenal overexpression of the GIP receptor without any activating mutation. We have conducted a systematic in vivo evaluation of patients with adrenal Cushing's syndrome in order to identify the presence of abnormal hormone receptors. In macronodular adrenal hyperplasia, we have identified, in addition to GIP-dependent Cushing's syndrome, other patients in whom cortisol production was regulated abnormally by vasopressin, ß-adrenergic receptor agonists, hCG/LH, or serotonin 5HT-4 receptor agonists. In patients with unilateral adrenal adenoma, the abnormal expression or function of GIP or vasopressin receptor has been found, but the presence of ectopic or abnormal hormone receptors appears to be less prevalent than in macronodular adrenal hyperplasia. The identification of the presence of an abnormal adrenal receptor offers the possibility of a new pharmacological approach to control hypercortisolism by suppressing the endogenous ligands or by using specific antagonists for the abnormal receptors.

  7. Adrenal GIPR expression and chromosome 19q13 microduplications in GIP-dependent Cushing’s syndrome

    Science.gov (United States)

    Lecoq, Anne-Lise; Stratakis, Constantine A.; Viengchareun, Say; Chaligné, Ronan; Tosca, Lucie; Hage, Mirella; Berthon, Annabel; Faucz, Fabio R.; Hanna, Patrick; Boyer, Hadrien-Gaël; Servant, Nicolas; Salenave, Sylvie; Tachdjian, Gérard; Adam, Clovis; Benhamo, Vanessa; Clauser, Eric; Guiochon-Mantel, Anne; Young, Jacques; Lombès, Marc; Bourdeau, Isabelle; Maiter, Dominique; Tabarin, Antoine; Bertherat, Jérôme; Lefebvre, Hervé; Louiset, Estelle; Lacroix, André; Bouligand, Jérôme; Kamenický, Peter

    2017-01-01

    GIP-dependent Cushing’s syndrome is caused by ectopic expression of glucose-dependent insulinotropic polypeptide receptor (GIPR) in cortisol-producing adrenal adenomas or in bilateral macronodular adrenal hyperplasias. Molecular mechanisms leading to ectopic GIPR expression in adrenal tissue are not known. Here we performed molecular analyses on adrenocortical adenomas and bilateral macronodular adrenal hyperplasias obtained from 14 patients with GIP-dependent adrenal Cushing’s syndrome and one patient with GIP-dependent aldosteronism. GIPR expression in all adenoma and hyperplasia samples occurred through transcriptional activation of a single allele of the GIPR gene. While no abnormality was detected in proximal GIPR promoter methylation, we identified somatic duplications in chromosome region 19q13.32 containing the GIPR locus in the adrenocortical lesions derived from 3 patients. In 2 adenoma samples, the duplicated 19q13.32 region was rearranged with other chromosome regions, whereas a single tissue sample with hyperplasia had a 19q duplication only. We demonstrated that juxtaposition with cis-acting regulatory sequences such as glucocorticoid response elements in the newly identified genomic environment drives abnormal expression of the translocated GIPR allele in adenoma cells. Altogether, our results provide insight into the molecular pathogenesis of GIP-dependent Cushing’s syndrome, occurring through monoallelic transcriptional activation of GIPR driven in some adrenal lesions by structural variations. PMID:28931750

  8. 131I-cholesterol (19-C) in the diagnosis of adrenal disorders

    International Nuclear Information System (INIS)

    Mueller, C.; Glanzmann, C.; Luetolf, U.M.; Renk, I.W.; Horst, W.

    1976-01-01

    Results are reported of quantitative adrenal scintigraphy with 131 I-cholesterol in 8 patients with normal adrenal function before and after ACTH-stimulation and cortisol-suppression respectively, in one case with an adrenal metastasis from a pulmonary cancer, in two cases with Cushing's disease and in 7 cases with Conn's disease. In normal cases and in patients with M. Cushing a diagnosis of adrenal cortical function is possible with this method but can usually be replaced by more specific biochemical studies of serum and urine. The scintigraphic method is in addition of value in localization studies and can in unequivocal cases replace the selective adrenal phlebography. In patients with M. Conn increased uptake values (bilateral adrenal cortex hyperplasia) as well as reduced or non-detectable uptakes were observed, one of these cases suffering from a cortex carcinoma with M. Conn. (orig.) [de

  9. Influencia de factores perinatales en la pesquisa neonatal de hiperplasia adrenal congénita en Ciudad de La Habana y La Habana Influence of perinatal factors on the neonatal screening of congenital adrenal hyperplasia in Ciudad de La Habana

    Directory of Open Access Journals (Sweden)

    Tania Mayvel Espinosa Reyes

    2012-04-01

    congenital adrenal hyperplasia are high. Objectives: to identify the perinatal factors to get involved in the rise and in the normalization time of values of 17 hydroprogesterone (17OHP in patients not involved by a congenital adrenal hyperplasia. Methods: a retrospective, longitudinal and descriptive study was conducted in 1 114 patients from Ciudad de La Habana and La Habana with false-positive results according to screening from January, 2007 to June, 2010. Authors identified the differences in frequency of perinatal factors recognized in this group with a sample of general population, and other including congenital adrenal hyperplasia patients. Results: from the false-positive patients, the 50.7 % was of male sex and the 49.3 % to the female one. The 54.7 % was born by cesarean section and the 82 % has not acute fetal suffering, those small for the gestational age and lower birth weight had mean levels of 17OHP higher. The 68.1 % normalized the OHP at one month of life, independently the type of labor and of the presence of acute fetal suffering but the gestational age and the birth weight had an inverse correlation with the persistence of its rise. There was predominance of eutocia labor in the sick and normal neonates and the cesarean section in the false-positive ones. The mean of gestational age and of the birth weight was significantly minor in the cases of the first group, compared with the remaining groups. Conclusions: the prematurity and the low birth weight had a significant influence on the rise and the persistence of values of 17OHP, but not the type of labor and the acute fetal suffering.

  10. A prospective study of etiology of primary Amenorrhea with especial evaluation for non classic congenital adrenal hyperplasia due to 21 Hydroxylase deficiency

    Directory of Open Access Journals (Sweden)

    Moayeri H

    2002-07-01

    Full Text Available Amenorrhea, an absence of menses is a symptom that generally brings teenagers for evaluation. This study was undertaken to determine the etiology of primary amenorrhea with especial concern to non classic congential adrenal hyperplasia (NC-CAH-due 21 hydroxylase deficiency among female adolescents refered to clinics of Pediatric Endocrinology of Tehran and Iran University of Medical sciences and private office. One hundred and five female adolescents were studied. All patients were examined by pediatric endocrinologist.Routine lab tests, FSH, LH, prolactin, T4, TSH, 17-hydroxyprogesterone and in some cases ACTH Stimulation test for screening of NC-CAH due to 21 OH deficiency were performed. Chromosmal analysis, sonography of the ovaries and CT scan or MRI of the brain was performed in some of them. Forty-three patients (41% had ypergonaldotropic hypogonadism and sixty two patiens (59% ahd hypogonadotropic hypogonadism. Turner’s syndrome and constitutional delay of puberty were the most common causes of primary amenorrhea in our study. The frequency of primary amenorrhea in our study. The frequency of primary amenorrhea due to 21-OH deficient NC-CAH was 6.6% in overall (105 cases. This study shows that in a population with high incidence of consanguineous marriages, some rare genetic disorders such as 21 OH deficient NC-CAH are relatively common

  11. The Role of Support Groups, Advocacy Groups,andOther Interested Parties in Improving the Care of Patients with Congenital Adrenal Hyperplasia: Pleas and Warnings

    Directory of Open Access Journals (Sweden)

    Lee PeterA

    2010-05-01

    Full Text Available In the era of advocacy groups, it seems appropriate to contemplate how best to utilize them for patient benefit in the management of those with disorders of sex development (DSD, including those with congenital adrenal hyperplasia (CAH. Such interactions, to be constructive, require a spirit of cooperation to optimize outcomes. A traditional view of advocacy groups as a type of defender of patients' rights appears outdated and it is time that the benefits of their participation be fully realized. Open dialogue with all patients/families, including those who feel harmed by prior care are paramount. We discuss several recent examples of interactions that illustrate how dialogue in the name of "advocacy" can have a negative impact on developing a framework for ongoing constructive dialogue and actions. Such approaches completely change the dynamics of subsequent interactions. Physicians involved in the care of individuals with DSD, including those with CAH, and patients should be aware of confrontational techniques and legal implications that may be used by some advocacy groups. Hopefully recent efforts to promote a multidisciplinary care approach for patients with DSD/CAH will continue to foster mutual cooperation between team members, where the common goal is improving patient/family outcomes and quality of life.

  12. The Role of Support Groups, Advocacy Groups, and Other Interested Parties in Improving the Care of Patients with Congenital Adrenal Hyperplasia: Pleas and Warnings

    Directory of Open Access Journals (Sweden)

    Christopher P. Houk

    2010-01-01

    Full Text Available In the era of advocacy groups, it seems appropriate to contemplate how best to utilize them for patient benefit in the management of those with disorders of sex development (DSD, including those with congenital adrenal hyperplasia (CAH. Such interactions, to be constructive, require a spirit of cooperation to optimize outcomes. A traditional view of advocacy groups as a type of defender of patients' rights appears outdated and it is time that the benefits of their participation be fully realized. Open dialogue with all patients/families, including those who feel harmed by prior care are paramount. We discuss several recent examples of interactions that illustrate how dialogue in the name of “advocacy” can have a negative impact on developing a framework for ongoing constructive dialogue and actions. Such approaches completely change the dynamics of subsequent interactions. Physicians involved in the care of individuals with DSD, including those with CAH, and patients should be aware of confrontational techniques and legal implications that may be used by some advocacy groups. Hopefully recent efforts to promote a multidisciplinary care approach for patients with DSD/CAH will continue to foster mutual cooperation between team members, where the common goal is improving patient/family outcomes and quality of life.

  13. Health-Related Quality of Life, Mental Health and Psychotherapeutic Considerations for Women Diagnosed with a Disorder of Sexual Development: Congenital Adrenal Hyperplasia

    Directory of Open Access Journals (Sweden)

    Lindsey M. Brooks

    2010-01-01

    Full Text Available Little is known about the long-term health-related quality of life (HRQL and mental health outcomes for women diagnosed with congenital adrenal hyperplasia (CAH, a disorder of sex development. Though recommendations for therapists exist, no research has empirically investigated women's experiences in therapy or their recommendations for therapy. Thus the purpose of the study was to investigate HRQL, mental health concerns of women with CAH, and patients' recommendations for therapists. A qualitative methodology, consensual qualitative research, was used to answer these questions. Eight women with CAH participated in the study. Results from their interviews revealed six domains: physical functioning, psychological functioning, interpersonal processes and relationships, healthcare experiences of women with CAH, recommendations for health care professionals, and systemic considerations. Domains were further broken down into categories with results yielding implications for both medical and mental health professionals and shedding light on issues related to normalcy, concerns both related and unrelated to CAH, sex, and gender, and highlighting effective supports and therapeutic interventions.

  14. Health-Related Quality of Life, Mental Health and Psychotherapeutic Considerations for Women Diagnosed with a Disorder of Sexual Development: Congenital Adrenal Hyperplasia

    Directory of Open Access Journals (Sweden)

    Franco Jill

    2010-06-01

    Full Text Available Little is known about the long-term health-related quality of life (HRQL and mental health outcomes for women diagnosed with congenital adrenal hyperplasia (CAH, a disorder of sex development. Though recommendations for therapists exist, no research has empirically investigated women's experiences in therapy or their recommendations for therapy. Thus the purpose of the study was to investigate HRQL, mental health concerns of women with CAH, and patients' recommendations for therapists. A qualitative methodology, consensual qualitative research, was used to answer these questions. Eight women with CAH participated in the study. Results from their interviews revealed six domains: physical functioning, psychological functioning, interpersonal processes and relationships, healthcare experiences of women with CAH, recommendations for health care professionals, and systemic considerations. Domains were further broken down into categories with results yielding implications for both medical and mental health professionals and shedding light on issues related to normalcy, concerns both related and unrelated to CAH, sex, and gender, and highlighting effective supports and therapeutic interventions.

  15. Bilateral primary adrenocortical carcinoma complicated by Addisonian crisis: case report

    International Nuclear Information System (INIS)

    Foster, M.; Nolan, R.L.; Hong, H.H.

    2001-01-01

    Primary adrenal carcinoma is a rare malignancy. Primary adrenal insufficiency (i.e. Addison's disease) is a rare complication of bilateral infiltration. We report a case of primary bilateral adrenal carcinoma complicated by an episode of primary adrenal insufficiency. (author)

  16. A single-centre experience of the implementation of adrenal vein sampling procedure: the impact on the diagnostic work-up in primary aldosteronism

    NARCIS (Netherlands)

    Kadziela, J.; Prejbisz, A.; Michalowska, I.; Kolodziejczyk-Kruk, S.; Schultze Kool, L.J.; Kabat, M.; Janaszek-Sitkowska, H.; Toutounchi, S.; Galazka, Z.; Ambroziak, U.; Bednarczuk, T.; Ptasinska-Wnuk, D.; Hoffmann, M.; Januszewicz, M.; Januszewicz, A.; Witkowski, A.

    2017-01-01

    BACKGROUND: Primary aldosteronism is one of the most common causes of secondary hypertension. Adrenal vein sampling (AVS) remains a "gold standard" procedure in differentiation between unilateral (adenoma) and bilateral (hyperplasia) disease. AIM: The aim of this study was to present our

  17. Obesity in children with congenital adrenal hyperplasia in the Minnesota cohort: importance of adjusting body mass index for height-age.

    Science.gov (United States)

    Sarafoglou, Kyriakie; Forlenza, Gregory P; Yaw Addo, O; Kyllo, Jennifer; Lteif, Aida; Hindmarsh, P C; Petryk, Anna; Gonzalez-Bolanos, Maria Teresa; Miller, Bradley S; Thomas, William

    2017-05-01

    To evaluate obesity and overweight in children with congenital adrenal hyperplasia (CAH) and associations with glucocorticoids, fludrocortisone and disease control. Adjusting body mass index-for-height-age (BMI HA ) percentile is proposed to correct misclassification of obese/overweight status in CAH children with advanced bone age and tall-for-age stature. Longitudinal. One hundred and ninety-four children with CAH seen from 1970 to 2013: 124 salt wasting (SW); 70 simple virilizing (SV); 102 females. Body mass index (BMI) end-points were overweight (85-94 percentile) and obese (≥95 percentile). Approximately 50% of the children had at least one BMI measurement ≥95 percentile and about 70% had at least one ≥85 percentile. Using BMI HA percentiles, obesity incidence decreased slightly in SW children (47-43%) and markedly in SV children (50-33%); however, overweight status was not reduced. Only 6% of SW and 1% of SV children were persistently obese (≥3 clinic visits) when BMI HA was applied, whereas overweight status persisted in 35% of SW and 33% of SV children. Most obesity or overweight when using BMI HA occurred before age 10 and there was no association with hydrocortisone (HC) or fludrocortisone dosing. Adiposity rebound for SW children occurred by 3·3 years and in SV females by age 3·8 years, over a year earlier than the adiposity rebound for healthy children. Children with CAH are at higher risk for early onset obesity and overweight with or without using BMI HA but rates of persistent obesity were lower than previously reported. Careful HC dosing during early childhood is needed to prevent increased weight gain and an early adiposity rebound. © 2017 John Wiley & Sons Ltd.

  18. Androgen and psychosexual development: core gender identity, sexual orientation and recalled childhood gender role behavior in women and men with congenital adrenal hyperplasia (CAH).

    Science.gov (United States)

    Hines, Melissa; Brook, Charles; Conway, Gerard S

    2004-02-01

    We assessed core gender identity, sexual orientation, and recalled childhood gender role behavior in 16 women and 9 men with CAH and in 15 unaffected female and 10 unaffected male relatives, all between the ages of 18 and 44 years. Women with congenital adrenal hyperplasia (CAH) recalled significantly more male-typical play behavior as children than did unaffected women, whereas men with and without CAH did not differ. Women with CAH also reported significantly less satisfaction with the female sex of assignment and less heterosexual interest than did unaffected women. Again, men with CAH did not differ significantly from unaffected men in these respects. Our results for women with CAH are consistent with numerous prior reports indicating that girls with CAH show increased male-typical play behavior. They also support the hypotheses that these women show reduced heterosexual interest and reduced satisfaction with the female sex of assignment. Our results for males are consistent with most prior reports that boys with CAH do not show a general alteration in childhood play behavior. In addition, they provide initial evidence that core gender identity and sexual orientation are unaffected in men with CAH. Finally, among women with CAH, we found that recalled male-typical play in childhood correlated with reduced satisfaction with the female gender and reduced heterosexual interest in adulthood. Although prospective studies are needed, these results suggest that those girls with CAH who show the greatest alterations in childhood play behavior may be the most likely to develop a bisexual or homosexual orientation as adults and to be dissatisfied with the female sex of assignment.

  19. A Novel Mutation in the CYP11B1 Gene Causes Steroid 11β-Hydroxylase Deficient Congenital Adrenal Hyperplasia with Reversible Cardiomyopathy

    Directory of Open Access Journals (Sweden)

    Mohammad A. Alqahtani

    2015-01-01

    Full Text Available Congenital adrenal hyperplasia (CAH due to steroid 11β-hydroxylase deficiency is the second most common form of CAH, resulting from a mutation in the CYP11B1 gene. Steroid 11β-hydroxylase deficiency results in excessive mineralcorticoids and androgen production leading to hypertension, precocious puberty with acne, enlarged penis, and hyperpigmentation of scrotum of genetically male infants. In the present study, we reported 3 male cases from a Saudi family who presented with penile enlargement, progressive darkness of skin, hypertension, and cardiomyopathy. The elder patient died due to heart failure and his younger brothers were treated with hydrocortisone and antihypertensive medications. Six months following treatment, cardiomyopathy disappeared with normal blood pressure and improvement in the skin pigmentation. The underlying molecular defect was investigated by PCR-sequencing analysis of all coding exons and intron-exon boundary of the CYP11B1 gene. A novel biallelic mutation c.780 G>A in exon 4 of the CYP11B1 gene was found in the patients. The mutation created a premature stop codon at amino acid 260 (p.W260∗, resulting in a truncated protein devoid of 11β-hydroxylase activity. Interestingly, a somatic mutation at the same codon (c.779 G>A, p.W260∗ was reported in a patient with papillary thyroid cancer (COSMIC database. In conclusion, we have identified a novel nonsense mutation in the CYP11B1 gene that causes classic steroid 11β-hydroxylase deficient CAH. Cardiomyopathy and cardiac failure can be reversed by early diagnosis and treatment.

  20. I-123(131)-metyrapone for imaging of the adrenal cortex

    International Nuclear Information System (INIS)

    Zolle, I.; Bergmann, H.; Hoefer, R.; Robien, W.

    1982-01-01

    Attempts to label metyrapone with radioiodine resulted in the synthesis of 4'-bromometyrapone that is labelled with I-123(131) by halogen exchange before use. The synthesis of I-123(131)-metyrapone involves 4 intermediate compounds. 4'-bromometyrapone serves as a precursor with indefinite shelf-life that is labelled selectively in the 4'-position of ring B. Studies of the biodistribution of I-131-metyrapone indicate the highest concentration in the adrenal gland 10-20 min after injection, peak uptake in the normal adrenal corresponds to 0.2% of the administered dose. In hyperfunctioning adrenals the uptake is higher. In a patient with bilateral modular hyperplasia, 0.8% of the injected radioactivity were measured in the enlarged adrenals at 2 resp. 2.8 hrs after injection of I-123-metyrapone. We have performed the first adrenal scintigram on the same patient with 1.25 mCi of I-123-metyrapone. (Author)

  1. Adrenal Incidentalomas with Supraphysiologic Response to ACTH Stimulus: A Case Report

    Directory of Open Access Journals (Sweden)

    Marianna Antonopoulou

    2012-01-01

    Full Text Available We present the diagnostic approach of a patient with adrenal incidentalomas. A 72-year-old African American male had a CT scan of the abdomen showing right and left adrenal masses measuring and , respectively. The patient had negative hormonal workup. The radiologist insisted that the CT findings are consistent with adrenal hyperplasia, and therefore he underwent ACTH stimulation to rule out late-onset congenital adrenal hyperplasia (CAH. The stimulation test revealed that 17-hydroxyprogesterone and 11-deoxycortisol increased to levels high enough to confirm CAH, but cortisol had exaggerated response as well, thus making the diagnosis of CAH unlikely where metabolism is shifted to precursors. Subsequently, the patient underwent screening for Cushing's syndrome (CS with a dexamethasone suppression test. Patient failed the suppresion test, raising the issue for subclinical CS (SCS, likely due to ACTH-independent macronodular adrenal hyperplasia. Our patient had been diagnosed with MGUS and so far there are only 3 case reports of extramedullary plasmacytoma arising from the adrenals. One was bilateral and one had functional abnormalities. Our differential diagnosis includes subclinical CS with aberrant receptors versus a functioning extramedullary plasmacytoma.

  2. Forma no clásica de hiperplasia adrenal congénita en la niñez y adolescencia Non-classic way of congenital adrenal hyperplasia in childhood and adolescence

    Directory of Open Access Journals (Sweden)

    Francisco Carvajal Martínez

    2010-04-01

    Full Text Available INTRODUCCIÓN: la hiperplasia adrenal congénita es un trastorno hereditario de la esteroidogénesis suprarrenal, trasmitido por mutaciones genéticas con carácter autosómico recesivo, las cuales afectan las enzimas que intervienen en la biosíntesis del cortisol. La causa la constituye en 90 a 95 % de los casos la deficiencia de la enzima 21 hidroxilasa. OBJETIVO: exponer la experiencia de los autores de este trabajo en la forma no clásica de esta enfermedad. MÉTODOS: se realizó la caracterización de 7 pacientes diagnosticados en la sala de endocrinología pediátrica del Instituto Nacional de Endocrinología, ubicada en el Hospital Pediátrico del Cerro, durante el período 1998-2008. Todos los pacientes pertenecían al sexo femenino. RESULTADOS: los síntomas se iniciaron a una edad promedio de 8,8 años y más de la mitad de los casos presentaron pubarquia precoz. La menarquia se produjo a una edad media de 10,7 años. Se logró el diagnóstico bioquímico al obtenerse valores elevados de 17 hidroxiprogesterona (en condiciones basales. Se emplearon distintas modalidades de tratamiento según la edad de cada paciente y los síntomas predominantes en cada caso. CONCLUSIONES: se corroboró la mayor frecuencia de diagnóstico de esta enfermedad en el sexo femenino, así como la importancia del estudio y el seguimiento ante un paciente con pubarquia precoz.INTRODUCTION: the congenital adrenal hyperplasia is an inherited disorder of suprarenal esteroidogenesis, transmitted by genetic mutations with a autosomal recessive character affecting the enzymes intervening in cortisol biosynthesis. In the 90 to 95% of cases, the cause is a deficiency of Hydroxylase enzyme 21. OBJECTIVE: to show the current paper authors' experience in the non-classic way of this entity. METHODS: we made a characterization of 7 female patients diagnosed in the Children Endocrinology Ward of the National Institute of Endocrinology located in the Children Hospital, Cerro

  3. A new CYP21A1P/CYP21A2 chimeric gene identified in an Italian woman suffering from classical congenital adrenal hyperplasia form

    Science.gov (United States)

    Concolino, Paola; Mello, Enrica; Minucci, Angelo; Giardina, Emiliano; Zuppi, Cecilia; Toscano, Vincenzo; Capoluongo, Ettore

    2009-01-01

    Background More than 90% of Congenital Adrenal Hyperplasia (CAH) cases are associated with mutations in the 21-hydroxylase gene (CYP21A2) in the HLA class III area on the short arm of chromosome 6p21.3. In this region, a 30 kb deletion produces a non functional chimeric gene with its 5' and 3' ends corresponding to CYP21A1P pseudogene and CYP21A2, respectively. To date, five different CYP21A1P/CYP21A2 chimeric genes have been found and characterized in recent studies. In this paper, we describe a new CYP21A1P/CYP21A2 chimera (CH-6) found in an Italian CAH patient. Methods Southern blot analysis and CYP21A2 sequencing were performed on the patient. In addition, in order to isolate the new CH-6 chimeric gene, two different strategies were used. Results The CYP21A2 sequencing analysis showed that the patient was homozygote for the g.655C/A>G mutation and heterozygote for the p.P30L missense mutation. In addition, the promoter sequence revealed the presence, in heterozygosis, of 13 SNPs generally produced by microconversion events between gene and pseudogene. Southern blot analysis showed that the woman was heterozygote for the classic 30-kb deletion producing a new CYP21A1P/CYP21A2 chimeric gene (CH-6). The hybrid junction site was located between the end of intron 2 pseudogene, after the g.656C/A>G mutation, and the beginning of exon 3, before the 8 bp deletion. Consequently, CH-6 carries three mutations: the weak pseudogene promoter region, the p.P30L and the g.655C/A>G splice mutation. Conclusion We describe a new CYP21A1P/CYP21A2 chimera (CH-6), associated with the HLA-B15, DR13 haplotype, in a young Italian CAH patient. PMID:19624807

  4. Bilateral symmetrical adrenal hypermetabolism on FDG PET/CT due to Cushing syndrome in well differentiated neuroendocrine carcinoma.

    Science.gov (United States)

    Aktas, G E; Soyluoglu Demir, S; Sarikaya, A

    2016-01-01

    The (18)F-FDG PET/CT scan has been suggested for whole-body imaging to identify ectopic adrenocorticotrophic hormone secreting tumours, but there are some challenges involved. The case of a patient is presented, who was admitted with the pre-diagnosis of ectopic ACTH syndrome. On the CT, a nodular lesion was detected in the medial segment of the right lung. The FDG uptake of the lesion seemed to be increased visually, but was not pathological quantitatively (SUVmax: 1.8) on the PET/CT. There was also diffuse increased uptake (SUVmax: 14.2) in the enlarged adrenal glands. The lesion was reported as a possible malignant lesion with low FDG affinity, such as a low grade neuroendocrine tumour, while the diffuse enlarged adrenal glands with high uptake were interpreted as diffusely hyperplasic, due to Cushing's syndrome. The patient was treated with a surgical wedge resection. The histopathological diagnosis confirmed that the tumour was a grade 1 well-differentiated neuroendocrine carcinoma. Copyright © 2015 Elsevier España, S.L.U. and SEMNIM. All rights reserved.

  5. Imaging findings of neonatal adrenal disorders

    International Nuclear Information System (INIS)

    Yoon, Hye Kyung; Han, Bo Kyung; Lee, Min Hee

    1999-01-01

    In newborn infants, normal adrenal glands are characterized by a relatively thin echogenic center surrounded by a thick, hypoechoic cortical rim as seen on ultrasound (US). Various disorders involving the neonatal adrenal gland include adrenal hemorrhage, hyperplasia, cyst, Wolman's disease, and congenital neuroblastoma. Adrenal hemorrhage is the most common cause of an adrenal mass in the neonate, though differentiation between adrenal hemorrhage and neuroblastoma is in many cases difficult. We describe characteristic US, CT and MR imaging findings in neonates with various adrenal disorders

  6. Imaging findings of neonatal adrenal disorders

    Energy Technology Data Exchange (ETDEWEB)

    Yoon, Hye Kyung; Han, Bo Kyung; Lee, Min Hee [Sungkyunkwan Univ. College of Medicine, Seoul (Korea, Republic of)

    1999-01-01

    In newborn infants, normal adrenal glands are characterized by a relatively thin echogenic center surrounded by a thick, hypoechoic cortical rim as seen on ultrasound (US). Various disorders involving the neonatal adrenal gland include adrenal hemorrhage, hyperplasia, cyst, Wolman's disease, and congenital neuroblastoma. Adrenal hemorrhage is the most common cause of an adrenal mass in the neonate, though differentiation between adrenal hemorrhage and neuroblastoma is in many cases difficult. We describe characteristic US, CT and MR imaging findings in neonates with various adrenal disorders.

  7. Radiologic evaluation of adrenal glands

    International Nuclear Information System (INIS)

    Pradel, J.; Bruel, J.M.; Taourel, P.; Garnier, T.; Cyteval, C.; Lamarque, J.L.

    1990-01-01

    When a diagnosis of adrenal disorder is suspected on the basis of clinical manifestations and/or laboratory findings, computed tomography (CT) is generally accepted as the imaging procedure of choice for visualization of adrenal areas and localization of lesions. Sonography keeps an important role in discovering adrenal masses during investigation for other suspected abnormality (incidentaloma). 131 I MIBG scintigraphy provides an efficious mean of pheochromocytoma localization and functional characterization. These non invasive procedures have greatly reduced the need for arteriography and venography; adrenal venous sampling is still an useful method for localizing either a tumor or hyperplasia related to primary aldosteronism. MR imaging and CT are nearly equivalent in the detection of adrenal masses: besides MR imaging has a potential for characterization of adrenal masses which might be useful, especially in distinguishing adrenal adenomas from malignant neoplasms, obviating, in some cases, the need of CT guided adrenal biopsy [fr

  8. Adrenal scintigraphy with 131I-19-iodocholesterol in the diagnosis of Cushing's syndrome associated with adrenal tumor

    International Nuclear Information System (INIS)

    Barliev, G.B.

    1979-01-01

    Seven patients with Cushing's syndrome secondary to adrenocortial tumors were studied using 131 I-19-iodocholesterol. The diagnoses of all cases were verified histologically. In three cases with adenoma the uptake of the tracer was in the tumor only, while the two patients with adrenocortical carcinoma failed to show adrenal accumulation of the labelled compound. In two patients there was a hyperplasia-like scintigraphic pattern, while the stimulation and suppression biochemical tests suggested adrenal tumor. One of these cases was verified as a mixed form (adenoma plus hyperplasia), and the tumor bearing gland was significantly larger on the scan which helped the preoperative localization. In the other case, verified as bilateral multiple adrenocortical adenomas, the autonomus function of both adrenals was proved by dexamethasone suppression scanning. It seems reasonable to use the latter as an adjunctive diagnostic procedure in patients where there is a discrepancy between the standard scintiscan and the biochemical indexes of adrenal hyperfunction. (orig.) 891 MG/orig. 892 MBE [de

  9. Bilateral Testicular Tumors Resulting in Recurrent Cushing Disease After Bilateral Adrenalectomy.

    Science.gov (United States)

    Puar, Troy; Engels, Manon; van Herwaarden, Antonius E; Sweep, Fred C G J; Hulsbergen-van de Kaa, Christina; Kamphuis-van Ulzen, Karin; Chortis, Vasileios; Arlt, Wiebke; Stikkelbroeck, Nike; Claahsen-van der Grinten, Hedi L; Hermus, Ad R M M

    2017-02-01

    Recurrence of hypercortisolism in patients after bilateral adrenalectomy for Cushing disease is extremely rare. We present a 27-year-old man who previously underwent bilateral adrenalectomy for Cushing disease with complete clinical resolution. Cushingoid features recurred 12 years later, with bilateral testicular enlargement. Hormonal tests confirmed adrenocorticotropic hormone (ACTH)-dependent Cushing disease. Surgical resection of the testicular tumors led to clinical and biochemical remission. Gene expression analysis of the tumor tissue by quantitative polymerase chain reaction showed high expression of all key steroidogenic enzymes. Adrenocortical-specific genes were 5.1 × 105 (CYP11B1), 1.8 × 102 (CYP11B2), and 6.3 × 104 (MC2R) times higher than nonsteroidogenic fibroblast control. This correlated with urine steroid metabolome profiling showing 2 fivefold increases in the excretion of the metabolites of 11-deoxycortisol, 21-deoxycortisol, and total glucocorticoids. Leydig-specific genes were 4.3 × 101 (LHCGR) and 9.3 × 100 (HSD17B3) times higher than control, and urinary steroid profiling showed twofold increased excretion of the major androgen metabolites androsterone and etiocholanolone. These distinctly increased steroid metabolites were suppressed by dexamethasone but unresponsive to human chorionic gonadotropin stimulation, supporting the role of ACTH, but not luteinizing hormone, in regulating tumor-specific steroid excess. We report bilateral testicular tumors occurring in a patient with recurrent Cushing disease 12 years after bilateral adrenalectomy. Using mRNA expression analysis and steroid metabolome profiling, the tumors demonstrated both adrenocortical and gonadal steroidogenic properties, similar to testicular adrenal rest tumors found in patients with congenital adrenal hyperplasia, suggesting the presence of pluripotent cells even in patients without congenital adrenal hyperplasia. Copyright © 2017 by the Endocrine Society

  10. Adrenal scintigraphy using 131I-Adosterol

    International Nuclear Information System (INIS)

    Fukunaga, Masao; Dokoh, Shigeharu; Yamamoto, Itsuo; Morita, Rikushi; Torizuka, Kanji

    1977-01-01

    131 I-Adosterol (6β-iodomethyl-19-norcholest-5(10)-3β-ol) was administered to evaluate adrenal grand in 20 patients including 9 patients with primary aldosteronism, 5 with Cushing's syndrome, one with pheochromocytoma, one with retroperitoneal tumor, 3 with essential hypertension and one with obesity. Standard scintigraphies were performed at 3rd day and again 6th day after administration of 131 I-adosterol (1-1.5 mCi). Suppression scintigraphies were obtained while the patients were taking dexamethasone 2 to 3 mg daily from 3 days prior to injection of the tracer until adrenal imaging. In the cases with essential hypertension and obesity, both adrenal glands were delineated equally by standard scintigraphy, and in one patient, undergone suppression scintigraphy, the uptake of 131 I-adosterol by both glands were completely inhibited by dexamethasone administration. In primary aldosteronism, six of the 9 patients demonstrated the increased radioactivity in one side, and were diagnosed as aldosteronoma. In 3 cases, failed to show the lesions on standard scintigraphy, the lesions could be detected by suppression scintigraphy, and aldosteronomas measuring 1 x 1 x 0.7, 2 x 2 x 1 and 1.7 x 1.5 x 0.8 cm were confirmed by operation. In Cushing's syndrome, standard scintigraphy could easily distinguish between adenoma (one case) and bilateral hyperplasia (4 cases). Adrenal scintigraphy was also a useful method in order to assess the effect of pituitary irradiation therapy in the case of hyperplasia. In pheochromocytoma and retroperitoneal tumor, the side of the lesion was identified by the absence of a functioning gland. Suppression scintigraphy was particularly useful in detecting the localization of the small tumor in primary aldosteronism. (auth.)

  11. Sodium Chloride Supplementation Is Not Routinely Performed in the Majority of German and Austrian Infants with Classic Salt-Wasting Congenital Adrenal Hyperplasia and Has No Effect on Linear Growth and Hydrocortisone or Fludrocortisone Dose.

    Science.gov (United States)

    Bonfig, Walter; Roehl, Friedhelm; Riedl, Stefan; Brämswig, Jürgen; Richter-Unruh, Annette; Fricke-Otto, Susanne; Hübner, Angela; Bettendorf, Markus; Schönau, Eckhard; Dörr, Helmut; Holl, Reinhard W; Mohnike, Klaus

    2018-01-01

    Sodium chloride supplementation in salt-wasting congenital adrenal hyperplasia (CAH) is generally recommended in infants, but its implementation in routine care is very heterogeneous. To evaluate oral sodium chloride supplementation, growth, and hydrocortisone and fludrocortisone dose in infants with salt-wasting CAH due to 21-hydroxylase in 311 infants from the AQUAPE CAH database. Of 358 patients with classic CAH born between 1999 and 2015, 311 patients had salt-wasting CAH (133 females, 178 males). Of these, 86 patients (27.7%) received oral sodium chloride supplementation in a mean dose of 0.9 ± 1.4 mmol/kg/day (excluding nutritional sodium content) during the first year of life. 225 patients (72.3%) were not treated with sodium chloride. The percentage of sodium chloride-supplemented patients rose from 15.2% in children born 1999-2004 to 37.5% in children born 2011-2015. Sodium chloride-supplemented and -unsupplemented infants did not significantly differ in hydrocortisone and fludrocortisone dose, target height-corrected height-SDS, and BMI-SDS during the first 2 years of life. In the AQUAPE CAH database, approximately one-third of infants with salt-wasting CAH receive sodium chloride supplementation. Sodium chloride supplementation is performed more frequently in recent years. However, salt supplementation had no influence on growth, daily fludrocortisone and hydrocortisone dose, and frequency of adrenal crisis. © 2017 S. Karger AG, Basel.

  12. Endometrial Hyperplasia

    Science.gov (United States)

    ... hyperplasia? The most common sign of hyperplasia is abnormal uterine bleeding. If you have any of the following, you ... endometrial hyperplasia diagnosed? There are many causes of abnormal uterine bleeding. If you have abnormal bleeding and you are ...

  13. Bilateral adrenal hemorrhage due to heparin-induced thrombocytopenia following partial nephrectomy – a case report [v1; ref status: indexed, http://f1000r.es/2pn

    Directory of Open Access Journals (Sweden)

    Ashley G. Winter

    2014-01-01

    Full Text Available Heparin-induced thrombocytopenia (HIT can cause severe life-threatening events such as bilateral adrenal hemorrhage (BAH. A 48-year-old female developed a pulmonary embolus (PE following partial nephrectomy. The anticoagulation treatment for her PE was complicated by HIT and subsequent BAH. To the author’s knowledge, this is the first reported case of HIT-associated BAH following renal surgery.

  14. Hiperplasia supra-renal congênita por deficiência de 11-ß-hidroxilase Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency

    Directory of Open Access Journals (Sweden)

    Ramires Tosatti Júnior

    2005-12-01

    Full Text Available Este artigo tem o objetivo de relatar o diagnóstico e a evolução clínica de um paciente de 15 anos portador de uma disfunção congênita da esteroideogênese adrenal, que pode apresentar-se como hipertensão arterial de diagnóstico muitas vezes tardio (adolescência, virilização ou formas perdedoras de sal (nascimento e infância.The objective of this article is to relate the diagnostic and clinical evolution of a 15 year old patient with a congenital adrenal steroidogenesis dysfunction that can present as hypertension diagnosed later in life (adolescence, virilization or salt wasting (birth and childhood.

  15. Laparoscopic Bilateral Adrenalectomy in a patient of Cushing syndrome: A Challenge for the Anaesthesiologist

    Directory of Open Access Journals (Sweden)

    Uma K Dahanukar

    2007-01-01

    Full Text Available We present a case of Cushing syndrome who underwent laparoscopic bilateral adrenalectomy and discuss her intraoperative management and postoperative course in ICU, especially pulmonary oedema, that occurred within 3 hours after resection (half life of cortisol is 80-110 minutes. [1] She was diagnosed to have bilateral adrenal hyperplasia with no pituitary involvement on CT scan. Preoperative workup revealed hypokalemia, anaemia, hypertension and hyperglycemia. She was posted for laparoscopic bilateral adrenalectomy. She received general anaesthesia; we did not give epidural analgesia as the patient had fracture of body of L1 vertebrae. Her intra-operative course was uneventful. Post-operative concerns included acute adrenal insufficiency, hypoglycaemia, hypotension and hyperkalemia, which were successfully managed in ICU. Patient was then given oral corticosteroids. One month later she was reassessed and was in better health.

  16. Reconstrucción genital integral en la Hiperplasia Suprarrenal Congénita: sensibilidad, estética y función (embarazo Integral genital reconstruction: sensitivity, aesthetic and function (pregnancy, in the Congenital Adrenal Hyperplasia

    Directory of Open Access Journals (Sweden)

    A.A. Núñez Serrano

    2010-03-01

    Full Text Available La Hiperplasia Suprarrenal Congénita o Síndrome Adrenogenital es un cuadro clínico poco frecuente. Las anomalías que presenta van asociadas a síndromes que a veces son muy complejos, destacando, entre otros, el seudohermafroditismo femenino y el hermafroditismo verdadero. Las mujeres que la padecen presentan como alteración más evidente un clítoris aumentado de tamaño (megaloclítoris y otras alteraciones en los genitales externos. Ante estas pacientes es necesario realizar un diagnostico correcto mediante exploración física y otras pruebas complementarias: estudios genéticos, analíticos, hematológicos y urinarios. La corrección quirúrgica del megaloclítoris es necesaria no sólo para mejorar el aspecto de los genitales externos, sino también para que tanto la paciente como su familia se encuentren menos afectados psicológicamente. Existen varias técnicas quirúrgicas que intentan corregir esta malformación, como la amputación o clitorectomía total, la retroposición o enterramiento y la clitorectomía parcial selectiva. Todas ellas, junto con otras correcciones de los genitales externos afectados, han sido utilizadas hasta el día de hoy. Presentamos el caso de una paciente con Hiperplasia Suprarrenal Congénita por déficit del enzima 21-hidroxilasa. Describimos su clínica, la técnica quirúrgica aplicada en su caso y, sobre todo, dado la rareza de esta patología, comunicamos que, tras dos embarazos, los dos hijos nacidos, no presentaron la alteración congénita materna.Congenital Adrenal Hyperplasia is a rare patology, whith clinical expressions like female pseudohermaphroditism or true hermaphroditism. Females affected mainly suffer clitoral hypertrophy and external genitalia abnormalityes. The complete diagnosis includes: careful examination of the genitals, complementary imaging proofs, hormonal and genetic testing. The surgical correction of the external genitals and megaloclitoris improves the physical and

  17. The diagnosis of nonclassic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, based on serum basal or post-ACTH stimulation 17-hydroxyprogesterone, can lead to false-positive diagnosis.

    Science.gov (United States)

    Ambroziak, Urszula; Kępczyńska-Nyk, Anna; Kuryłowicz, Alina; Małunowicz, Ewa Maria; Wójcicka, Anna; Miśkiewicz, Piotr; Macech, Magdalena

    2016-01-01

    As nonclassic congenital adrenal hyperplasia (NCCAH) needs to be taken into account in women with hyperandrogenism, we aimed to assess whether the recommended level of poststimulated 17OHP ≥30 nmol/l confirms NCCAH. Forty, consecutive women with biochemical and/or clinical hyperandrogenism (aged 25·4, 18-38) suspected of having NCCAH were recruited to the study. In patients with 17OHP level between 5·1 and 29·9 nmol/l an ACTH stimulation test was performed. In patients with basal or poststimulated 17OHP ≥30 nmol/l, twenty-four-hour urinary steroid profile (USP) analysis was performed and CYP21A2 mutation was assessed. In selected patients with poststimulated 17OHP basal or poststimulated 17OHP ≥30 nmol/l (group A) and with poststimulated 17OHP basal or poststimulated 17OHP ≥30 nmol/l was found in 21, but NCCAH was confirmed by USP followed by genetic testing only in 5 (24%). Four patients were diagnosed as heterozygotes, and in twelve, no CYP21A2 mutation was detected. The diagnosis of NCCAH based only on serum 17OHP measurements (basal or poststimulated) may lead to false-positive diagnosis when performed by immunoassay with a cut-off value of ≥30 nmol/l. The definitive diagnosis can be established based on USP and/or genetic testing. © 2015 John Wiley & Sons Ltd.

  18. Isolated adrenal paracoccidioidomycosis: Case report

    International Nuclear Information System (INIS)

    Uribe Castro, Jorge Ricardo; Quintana, Humberto; Puentes, Alix Sofia and others

    2011-01-01

    Even though paracoccidioidomycosis has a relatively high prevalence in Latin America in a systemic form, isolated cases, especially compromising the adrenal glands, are uncommon, with only two reported cases. In this article, we report the case of a 55 year-old male with clinical manifestations of adrenal insufficiency. The only imaging finding was the presence of bilateral adrenal masses. The biopsy showed Paracoccidioides brasiliensis infection.

  19. Adrenal Fatigue

    Science.gov (United States)

    ... Search Featured Resource New Mobile App DOWNLOAD Adrenal Fatigue October 2017 Download PDFs English Editors Irina Bancos, MD Additional Resources Mayo Clinic What is adrenal fatigue? The term “adrenal fatigue” has been used to ...

  20. Cushing's syndrome and fetal features resurgence in adrenal cortex-specific Prkar1a knockout mice.

    Directory of Open Access Journals (Sweden)

    Isabelle Sahut-Barnola

    2010-06-01

    Full Text Available Carney complex (CNC is an inherited neoplasia syndrome with endocrine overactivity. Its most frequent endocrine manifestation is primary pigmented nodular adrenocortical disease (PPNAD, a bilateral adrenocortical hyperplasia causing pituitary-independent Cushing's syndrome. Inactivating mutations in PRKAR1A, a gene encoding the type 1 alpha-regulatory subunit (R1alpha of the cAMP-dependent protein kinase (PKA have been found in 80% of CNC patients with Cushing's syndrome. To demonstrate the implication of R1alpha loss in the initiation and development of PPNAD, we generated mice lacking Prkar1a specifically in the adrenal cortex (AdKO. AdKO mice develop pituitary-independent Cushing's syndrome with increased PKA activity. This leads to autonomous steroidogenic genes expression and deregulated adreno-cortical cells differentiation, increased proliferation and resistance to apoptosis. Unexpectedly, R1alpha loss results in improper maintenance and centrifugal expansion of cortisol-producing fetal adrenocortical cells with concomitant regression of adult cortex. Our data provide the first in vivo evidence that loss of R1alpha is sufficient to induce autonomous adrenal hyper-activity and bilateral hyperplasia, both observed in human PPNAD. Furthermore, this model demonstrates that deregulated PKA activity favors the emergence of a new cell population potentially arising from the fetal adrenal, giving new insight into the mechanisms leading to PPNAD.

  1. Quantitative selenium-75-cholesterol imaging and computed tomography of the adrenal glands in Conn's syndrome

    International Nuclear Information System (INIS)

    Miller, J.L.

    1982-01-01

    Six consecutive patients with biochemically proven primary aldosteronism (4 with unilateral aldosteronomas and 2 with bilateral hyperplasia) underwent imaging with 75 Se-selenomethyl-nor-cholesterol (Scintadren; Radiochemical Centre, Amersham, UK) and computed tomography (CT) of the adrenal glands to aid in lateralizing unilateral aldosterone-producing adenomas (APA) and to differentiate APA from idiopathic adrenal hyperplasia (IAH). Scintadren quantitative imaging alone was successful in lateralizing the lesion in all 4 cases of unilateral APA; mean uptake by the affected adrenal gland was 0,47% of the administered dose as against 0,23% in the normal gland (P smaller than 0,01). The mean uptake ratio for the adenomatous as against the normal gland was 2,03 (range 1,75-2,21), which was significantly greater than the uptake ratio of 0,82 in 4 normal individuals (P smaller than 0,01). CT lateralized all the APAs. In the 2 cases of IAH, Scintadren uptake was bilaterally increased in one case in which CT was normal, whereas in the other case Scintadren uptakes were normal while CT showed two abnormal glands. The overall diagnostic yield for Scintadren was 83%; the figure for CT was also 83%. When the results of Scintadren imaging and CT are pooled, the accuracy in lateralizing APAs and differentiating APA from IAH as a cause of Conn's syndrome is 100%

  2. Bilateral inferior petrosal sinus sampling using vasopressin

    Directory of Open Access Journals (Sweden)

    Narendra Kotwal

    2016-01-01

    Full Text Available Context: Anatomical localization of pituitary adenoma can be challenging in adrenocorticotropic hormone (ACTH-dependent Cushing's syndrome, and bilateral inferior petrosal sinus sampling (BIPSS is considered gold standard in this regard. Stimulation using corticotrophin-releasing hormone (CRH improves the sensitivity of BIPSS, however, same is not easily available in India. Therefore, we undertook this study of BIPPS using vasopressin as agent for stimulation owing to its ability to stimulate V3 receptors present on corticotrophs. Aims: To study the tumor localization and lateralization in difficult to localize cases of ACTH-dependent Cushing's syndrome by bilateral inferior petrosal sinus sampling using vasopressin for corticotroph stimulation. Settings and Design: Prospective observational study. Subjects and Methods: Six patients (5 females meeting inclusion criteria underwent BIPSS using vasopressin for stimulation. Results: All six patients had nonsuppressible overnight and low dose dexamethasone suppression test with elevated plasma ACTH levels suggestive of ACTH-dependent Cushing's syndrome. High dose dexamethasone suppression test showed suppressible cortisol in two cases, and microadenoma was seen in two patients on magnetic resonance imaging pituitary. Contrast enhanced computed tomography of the abdomen showed left adrenal hyperplasia in one case and anterior mediastinal mass with bilateral adrenal hyperplasia another. Using BIPSS four patients were classified as having Cushing's disease that was confirmed histopathologically following surgery. Of the remaining two, one had primary pigmented nodular adrenocortical disease, and another had thymic carcinoid with ectopic ACTH production as the cause of Cushing's syndrome. No serious adverse events were noted. Conclusions: Vasopressin may be used instead of CRH and desmopressin for stimulation in BIPSS.

  3. Polycystic ovarian disease: the adrenal connection.

    Science.gov (United States)

    Marouliss, George B; Triantafillidis, Ioannis K

    2006-01-01

    Polycystic ovarian disease (PCOD) is characterized by hyperandrogenemia, ovulatory dysfunction and polycystic ovaries (PCO). The increased androgen production in PCOD comes primarily from the ovaries. However, in about 40% of patients there is excessive adrenal androgen production (DHEA, DHEA-Sulfate, Androstenedione, Testosterone and Dihydrotestosterone). The contribution of the adrenal in the PCOD is suggested by the presence of adrenal androgen excess in PCO, the presence of PCO in women with enzymatic adrenal hyperplasia as well as in women with adrenal tumors. However, the cause of adrenal androgen hypersecretion is not yet fully understood but it may include endogenous hypersecretion of the zona reticularis of unclear cause, hypersecretion of cortical-androgen-stimulating hormone (CASH), stress, hyperprolactinemia, adrenal enzymatic defects etc. This short review covers the aspects of adrenal androgen hypersecretion in PCOD.

  4. Increased Cross-Gender Identification Independent of Gender Role Behavior in Girls with Congenital Adrenal Hyperplasia: Results from a Standardized Assessment of 4- to 11-Year-Old Children.

    Science.gov (United States)

    Pasterski, Vickie; Zucker, Kenneth J; Hindmarsh, Peter C; Hughes, Ieuan A; Acerini, Carlo; Spencer, Debra; Neufeld, Sharon; Hines, Melissa

    2015-07-01

    While reports showing a link between prenatal androgen exposure and human gender role behavior are consistent and the effects are robust, associations to gender identity or cross-gender identification are less clear. The aim of the current study was to investigate potential cross-gender identification in girls exposed prenatally to high concentrations of androgens due to classical congenital adrenal hyperplasia (CAH). Assessment included two standardized measures and a short parent interview assessing frequency of behavioral features of cross-gender identification as conceptualized in Part A of the diagnostic criteria for gender identity disorder (GID) in the DSM-IV-TR. Next, because existing measures may have conflated gender role behavior with gender identity and because the distinction is potentially informative, we factor analyzed items from the measures which included both gender identity and gender role items to establish the independence of the two constructs. Participants were 43 girls and 38 boys with CAH and 41 unaffected female and 31 unaffected male relatives, aged 4- to 11-years. Girls with CAH had more cross-gender responses than female controls on all three measures of cross-gender identification as well as on a composite measure of gender identity independent of gender role behavior. Furthermore, parent report indicated that 5/39 (12.8 %) of the girls with CAH exhibited cross-gender behavior in all five behavioral domains which comprise the cross-gender identification component of GID compared to 0/105 (0.0 %) of the children in the other three groups combined. These data suggest that girls exposed to high concentrations of androgens prenatally are more likely to show cross-gender identification than girls without CAH or boys with and without CAH. Our findings suggest that prenatal androgen exposure could play a role in gender identity development in healthy children, and may be relevant to gender assignment in cases of prenatal hormone disruption

  5. Ovarian Leydig Cell Hyperplasia: An Unusual Case of Virilization in a Postmenopausal Woman

    Directory of Open Access Journals (Sweden)

    Jaya M. Mehta

    2014-01-01

    Full Text Available Objective. To report an unusual case of ovarian Leydig cell hyperplasia resulting in virilization in a postmenopausal woman. Methods. Patient’s medical history and pertinent literature were reviewed. Results. A 64-year-old woman presented with virilization with worsening hirsutism, deepening of her voice, male musculature, and male pattern alopecia. Her pertinent past medical history included type 1 diabetes, hyperlipidemia, and hypertension. Her pertinent past surgical history included hysterectomy due to fibroids. On further work-up, her serum total testosterone was 506 ng/dL (nl range: 2–45 and free testosterone was 40 pg/mL (nl range: 0.1–6.4. After ruling out adrenal causes, the patient underwent an empiric bilateral oophorectomy that showed Leydig cell hyperplasia on pathology. Six weeks postoperatively, serum testosterone was undetectable with significant clinical improvement. Conclusion. Postmenopausal hyperandrogenism can be the result of numerous etiologies ranging from normal physiologic changes to ovarian or rarely adrenal tumors. Our patient was found to have Leydig cell hyperplasia of her ovaries, a rarely reported cause of virilization.

  6. Optimal glucocorticoid replacement in adrenal insufficiency.

    Science.gov (United States)

    Øksnes, Marianne; Ross, Richard; Løvås, Kristian

    2015-01-01

    Adrenal insufficiency (glucocorticoid deficiency) comprises a group of rare diseases, including primary adrenal insufficiency, secondary adrenal insufficiency and congenital adrenal hyperplasia. Lifesaving glucocorticoid therapy was introduced over 60 years ago, but since then a number of advances in treatment have taken place. Specifically, little is known about short- and long-term treatment effects, and morbidity and mortality. Over the past decade, systematic cohort and registry studies have described reduced health-related quality of life, an unfavourable metabolic profile and increased mortality in patients with adrenal insufficiency, which may relate to unphysiological glucocorticoid replacement. This has led to the development of new modes of replacement that aim to mimic normal glucocorticoid physiology. Here, evidence for the inadequacy of conventional glucocorticoid therapy and recent developments in treatment are reviewed, with an emphasis on primary adrenal insufficiency. Copyright © 2014 Elsevier Ltd. All rights reserved.

  7. Clinical significance of adrenal computed tomography in Addison's disease

    International Nuclear Information System (INIS)

    Sun, Zhong-Hua; Nomura, Kaoru; Toraya, Shohzoh; Ujihara, Makoto; Horiba, Nobuo; Suda, Toshihiro; Tsushima, Toshio; Demura, Hiroshi; Kono, Atsushi

    1992-01-01

    Adrenal computed tomographic (CT) scanning was conducted in twelve patients with Addison's disease during the clinical course. In tuberculous Addison's disease (n=8), three of four patients examined during the first two years after disease onset had bilaterally enlarged adrenals, while one of four had a unilaterally enlarged one. At least one adrenal gland was enlarged after onset in all six patients examined during the first four years. Thereafter, the adrenal glands was atrophied bilaterally, in contrast to adrenal glands in idiopathic Addison's disease which was atrophied bilaterally from disease onset (n=2). Adrenal calcification was a less sensitive clue in tracing pathogenesis, i.e., adrenal calcification was observed in five of eight patients with tuberculous Addison's disease, but not idiopathic patients. Thus, adrenal CT scanning could show the etiology of Addison's disease (infection or autoimmunity) and the phase of Addison's disease secondary to tuberculosis, which may be clinically important for initiating antituberculous treatment. (author)

  8. Adrenal vein catheterization. Anatomic considerations

    Energy Technology Data Exchange (ETDEWEB)

    El-Sherief, M.A. (Akademiska Sjukhuset, Uppsala (Sweden))

    1982-01-01

    Twenty post-mortem specimens and 93 phlebographies (56 right side, 37 left side) from 44 patients were investigated with respect to the adrenal venous anatomy. At autopsy, the venous orifices displayed in the area of adrenal drainage were injected bilaterally to identify the adrenal vein(s), the surrounding channels and the presence of interconnections. The findings were correlated with those at clinical phlebography, and the different sources of error were elicited. These were mainly found on the right side. Some guidelines are suggested in the hope that these will contribute to eliminate misconceptions.

  9. [Adrenal tumors. Principles of diagnostics and operative treatment].

    Science.gov (United States)

    Gonsior, A; Pfeiffer, H; Führer, D; Liatsikos, E; Schwalenberg, T; Stolzenburg, J-U

    2010-05-01

    Adrenal masses are very heterogeneous and comprise benign or malignant tumors, unilateral or bilateral masses and variable endocrine activity. Because of these attributes adrenal gland masses are a clinical challenge. This article gives a summary of diagnostic steps and indications for adrenal surgery including perioperative management.

  10. Adrenal scintigraphy

    International Nuclear Information System (INIS)

    Beierwaltes, W.H.

    1979-01-01

    The following items are discussed:anatomy and physiology of adrenal glands, clinical indications of scintigraphy, radiobiology and radiochemistry, scintigraphic imaging, adrenocortical hyperfunction, aldosteronism and hypertension associated with low renin level, excess of androgen, adrenocortical hyperfunction and future perspectives of adrenal scintigraphy. (M.A.) [pt

  11. Adrenal Insufficiency

    Science.gov (United States)

    ... two kinds of AI: • Primary AI, also called Addison’s disease. In this rare condition, the adrenal glands do ... org (search for adrenal) • Information about AI and Addison’s disease from the National Institutes of Health: www. endocrine. ...

  12. Adrenal incidentaloma

    Directory of Open Access Journals (Sweden)

    Arnaldi G.

    2000-01-01

    Full Text Available Incidentally discovered adrenal masses, or adrenal incidentalomas, have become a common clinical problem owing to wide application of radiologic imaging techniques. This definition encompasses a heterogeneous spectrum of pathologic entities, including primary adrenocortical and medullary tumors, benign or malignant lesions, hormonally active or inactive lesions, metastases, and infections. Once an adrenal mass is detected, the clinician needs to address two crucial questions: is the mass malignant, and is it hormonally active? This article provides an overview of the diagnostic clinical approach and management of the adrenal incidentaloma. Mass size is the most reliable variable to distinguish benign and malignant adrenal masses. Adrenalectomy should be recommended for masses greater than 4.0 cm because of the increased risk of malignancy. Adrenal scintigraphy has proved useful in discriminating between benign and malignant lesions. Finally, fine-needle aspiration biopsy is an important tool in the evaluation of oncological patients and it may be useful in establishing the presence of metastatic disease. The majority of adrenal incidentalomas are non-hypersecretory cortical adenomas but an endocrine evaluation can lead to the identification of a significant number of cases with subclinical Cushing's syndrome (5-15%, pheochromocytoma (1.5-13% and aldosteronoma (0-7%. The first step of hormonal screening should include an overnight low dose dexamethasone suppression test, the measure of urinary catecholamines or metanephrines, serum potassium and, in hypertensive patients, upright plasma aldosterone/plasma renin activity ratio. Dehydroepiandrosterone sulfate measurement may show evidence of adrenal androgen excess.

  13. Coexistence of Cushing syndrome from functional adrenal adenoma and Addison disease from immune-mediated adrenalitis.

    Science.gov (United States)

    Colucci, Randall; Jimenez, Rafael E; Farrar, William; Malgor, Ramiro; Kohn, Leonard; Schwartz, Frank L

    2012-06-01

    A 56-year-old woman presented with an incidental adrenal adenoma and physical examination findings that included moderate obesity, a slight cervicothoracic fat pad ("buffalo hump"), increased supraclavicular fat pads, and white abdominal striae. Biochemical workup revealed elevated levels of 24-hour urinary free cortisol but normal serum morning cortisol and suppressed levels of corticotropin, suggestive of adrenal-dependent Cushing syndrome. The resected adrenal gland revealed macronodular cortical hyperplasia with a dominant nodule. Other findings included an absent cortisol response to corticotropin stimulation, presence of serum anti-21-hydroxylase antibodies, and mononuclear cell infiltration--consistent with adrenalitis. The findings represent, to the authors' knowledge, the first known case of a patient with coexistent functional cortisol-secreting macronodular adrenal tumor resulting in Cushing syndrome and immune-mediated adrenalitis resulting in Addison disease.

  14. Laparoscopic bilateral transperitoneal adrenalectomy for Cushing syndrome: surgical challenges and lessons learnt.

    Science.gov (United States)

    Aggarwal, Sandeep; Yadav, Kunal; Sharma, Aditya P; Sethi, Vrishketan

    2013-06-01

    Laparoscopic adrenalectomy is well established for treatment of adrenal lesions. However, bilateral adrenalectomy for Cushing syndrome is a challenging and time-consuming operation. We report our experience of laparoscopic bilateral adrenalectomy for this disease in 19 patients. From September 2009 to August 2012, we have operated 19 patients with Cushing syndrome and performed bilateral laparoscopic adrenalectomy using the transperitoneal approach; synchronous in 15 patients and staged in 4 patients. In 15 patients, the surgery was carried out sequentially on both the sides in lateral position with intraoperative change in position. Complete adrenalectomy including periadrenal fat was carried out on both the sides. Nineteen patients were referred from Department of Endocrinology for bilateral adrenalectomy for adrenocorticotropin hormone (ACTH)-dependent and ACTH-independent Cushing syndrome. The indications for surgery were Cushing disease in 15 patients, occult/ectopic source of ACTH in 2 patients, and primary adrenal hyperplasia in 2 patients. Fifteen patients underwent bilateral adrenalectomy during the same operation. Four patients underwent staged procedures. All procedures were completed laparoscopically with no conversions. The mean operating time for simultaneous bilateral adrenalectomy was 210 minutes (range, 150 to 240 min). This included the repositioning and reprepping time. There were no major intraoperative complications. The average blood loss was 100 mL (range, 50 to 200 mL). None of the patients required blood transfusions in the postoperative period. The postoperative complications included minor port-site infection in 2 patients. One severely debilitated patient died on the 14th postoperative day because of hospital-acquired pneumonia. The remaining 18 patients have done well in terms of impact on the disease. Laparoscopic bilateral adrenalectomy for Cushing syndrome is feasible and safe. It confers all the advantages of minimally invasive

  15. Hiperplasias epiteliais em espécimes de mamoplastia redutora estética bilateral e mamoplastia redutora contralateral a câncer de mama Epithelial hyperplasia in specimens from bilateral reduction aesthetic mammaplasty and reduction mammaplasty contralateral to breast cancer

    Directory of Open Access Journals (Sweden)

    Luciene Simões de Assis Tafuri

    2005-04-01

    Full Text Available INTRODUÇÃO: A mamoplastia redutora estética bilateral (MEB é uma cirurgia que tem como objetivo reduzir o volume mamário, melhorando problemas estéticos e posturais, ou obter equilíbrio estético em pacientes submetidas a mamoplastia contralateral (MRC a câncer de mama. A incidência de lesões mamárias nestes espécimes é variável, e a presença de câncer em uma das mamas é fator de risco conhecido para desenvolvimento de câncer na mama contralateral. OBJETIVOS: Comparar a freqüência de lesões proliferativas epiteliais e outras alterações histopatológicas em espécimes de MEB e MRC. MATERIAIS E MÉTODOS: Foram revistas lâminas de 867 peças cirúrgicas de MEB e 72 de MRC, anotando-se as alterações histopatológicas, com ênfase nas hiperplasias epiteliais, e relacionando-as com a faixa etária das pacientes. RESULTADOS: A idade média das pacientes submetidas a MEB foi de 34 anos, e das submetidas a MRC, de 50,3 anos. Alterações fibrocísticas foram as lesões mais comumente diagnosticadas. Cistos e ectasia ductal estavam presentes em 50,9% das MEB e em 59,7% das MRC. Hiperplasias epiteliais foram diagnosticadas em 10,1% das MEB e em 43,1% das MRC, principalmente em mulheres com idade superior a 40 anos. Entre as hiperplasias, o tipo usual foi o mais freqüente nos dois grupos (MEB = 9,8% e MRC = 33,3%. Hiperplasias atípicas estavam presentes em 9,7% dos casos de MRC e em 0,3% de MEB. CONCLUSÃO: A incidência de hiperplasias epiteliais com e sem atipias foi maior nos casos de MRC do que nos de MEB mesmo quando as pacientes foram pareadas pela faixa etária.BACKGROUND: Reduction mammaplasty is a surgery whose objective is to reduce the mammary size, improving aesthetic (MEB, or to attain of aesthetic balance in patients submitted to mammaplasty contralateral to breast cancer (MRC. The incidence of breast lesions in these specimens is variable and the previous cancer in one breast is a known risk factor for cancer in

  16. Adrenal scintigraphy

    International Nuclear Information System (INIS)

    Veen, E.A. van der.

    1978-01-01

    The visualization of functioning adrenocortical tissue by scintigraphy became possible with the introduction of radioiodinated cholesterol derivatives. According to the literature, there is evidence that one of these iodinated cholesterols, 6-β-iodomethyl-nor-cholesterol, concentrates in the adrenal cortex to a much greater extent than 131 I-19-odocholesterol. Results comparing both radiopharmaceuticals are described. The authors investigated the possibility of increasing the uptake of iodinated cholesterol using simultaneous ACTH and the 'cholesterol side-chain cleavage enzymeblocker': aminoglutethimide. The results of adrenal scintigraphy performed in 37 patients are described. Finally, the literature on adrenal scintigraphy is reviewed, and results reported in various studies are compared. (Auth.)

  17. The Lateralizing Asymmetry of Adrenal Adenomas

    Science.gov (United States)

    Hao, Meng; Lopez, Diana; Luque-Fernandez, Miguel Angel; Cote, Kathryn; Newfield, Jessica; Connors, Molly; Vaidya, Anand

    2018-01-01

    Abstract Context It is presumed that the incidence of adrenal adenomas is symmetric between the left and right adrenal gland; however, anecdotal observations suggest a potential lateralizing asymmetry. Objective To investigate the symmetry in detection of adrenal adenomas and relevance to patient care. Design Cross-sectional and longitudinal studies. Population and Setting One thousand three hundred seventy-six patients with abdominal computed tomography or magnetic resonance imaging demonstrating benign-appearing adrenal adenomas. Main Outcome Location and size of adrenal adenomas. Results Left-sided adenomas were discovered in 65% of patients, right-sided in 21%, and bilateral adenomas in 14%. Among unilateral adenomas, 75% were left-sided. Left-sided adenomas were more prevalent than right-sided adenomas in each size category except the largest: Adrenal adenomas are substantially more likely to be identified on the left adrenal than the right. This observation may be due to detection bias attributed to the location of the right adrenal, which may preclude identification of right-sided adenomas until they are substantially larger. These findings suggest the potential for an underrecognition of right-sided adenomas that may also impair the accurate detection of bilateral adrenal diseases. PMID:29644340

  18. Adrenal Incidentaloma

    Science.gov (United States)

    ... Peer Support Resources Diseases and Conditions Adrenal Disorders Osteoporosis and Bone Health Children and Teen Health Diabetes Heart Health Men's Health Rare Diseases Pituitary Disorders Thyroid Disorders Transgender Health Obesity and Weight Management Women's Health You and Your ...

  19. Clinicopathological correlates of adrenal Cushing's syndrome.

    Science.gov (United States)

    Duan, Kai; Gomez Hernandez, Karen; Mete, Ozgur

    2015-03-01

    Endogenous Cushing's syndrome is a rare endocrine disorder that incurs significant cardiovascular morbidity and mortality, due to glucocorticoid excess. It comprises adrenal (20%) and non-adrenal (80%) aetiologies. While the majority of cases are attributed to pituitary or ectopic corticotropin (ACTH) overproduction, primary cortisol-producing adrenal cortical lesions are increasingly recognised in the pathophysiology of Cushing's syndrome. Our understanding of this disease has progressed substantially over the past decade. Recently, important mechanisms underlying the pathogenesis of adrenal hypercortisolism have been elucidated with the discovery of mutations in cyclic AMP signalling (PRKACA, PRKAR1A, GNAS, PDE11A, PDE8B), armadillo repeat containing 5 gene (ARMC5) a putative tumour suppressor gene, aberrant G-protein-coupled receptors, and intra-adrenal secretion of ACTH. Accurate subtyping of Cushing's syndrome is crucial for treatment decision-making and requires a complete integration of clinical, biochemical, imaging and pathology findings. Pathological correlates in the adrenal glands include hyperplasia, adenoma and carcinoma. While the most common presentation is diffuse adrenocortical hyperplasia secondary to excess ACTH production, this entity is usually treated with pituitary or ectopic tumour resection. Therefore, when confronted with adrenalectomy specimens in the setting of Cushing's syndrome, surgical pathologists are most commonly exposed to adrenocortical adenomas, carcinomas and primary macronodular or micronodular hyperplasia. This review provides an update on the rapidly evolving knowledge of adrenal Cushing's syndrome and discusses the clinicopathological correlations of this important disease. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.

  20. Adrenal neoplasms

    International Nuclear Information System (INIS)

    Low, G.; Dhliwayo, H.; Lomas, D.J.

    2012-01-01

    Adenoma, myelolipoma, phaeochromocytoma, metastases, adrenocortical carcinoma, neuroblastoma, and lymphoma account for the majority of adrenal neoplasms that are encountered in clinical practice. A variety of imaging methods are available for evaluating adrenal lesions including ultrasound, computed tomography (CT), magnetic resonance imaging (MRI), and nuclear medicine techniques such as meta-iodobenzylguanidine (MIBG) scintigraphy and positron-emission tomography (PET). Lipid-sensitive imaging techniques such as unenhanced CT and chemical shift MRI enable detection and characterization of lipid-rich adenomas based on an unenhanced CT attenuation of ≤10 HU and signal loss on opposed-phase compared to in-phase T1-weighted images, respectively. In indeterminate cases, an adrenal CT washout study may differentiate adenomas (both lipid-rich and lipid-poor) from other adrenal neoplasms based on an absolute percentage washout of >60% and/or a relative percentage washout of >40%. This is based on the principle that adenomas show rapid contrast washout while most other adrenal neoplasms including malignant tumours show slow contrast washout instead. 18 F-2-fluoro-2-deoxy-D-glucose–PET ( 18 FDG-PET) imaging may differentiate benign from malignant adrenal neoplasms by demonstrating high tracer uptake in malignant neoplasms based on the increased glucose utilization and metabolic activity found in most of these malignancies. In this review, the multi-modality imaging appearances of adrenal neoplasms are discussed and illustrated. Key imaging findings that facilitate lesion characterization and differentiation are emphasized. Awareness of these imaging findings is essential for improving diagnostic confidence and for reducing misinterpretation errors.

  1. [Role of adrenal vein sampling in differential diagnosis of primary aldosteronism subtypes].

    Science.gov (United States)

    Li, H Y; Li, P; Shen, S M; Zhang, X B; Feng, W H; Huang, H; Chen, W; Zhu, D L

    2017-11-14

    Objective: To investigate the role of adrenal vein sampling (AVS) in identifying the subtype of primary aldosteronism (PA). Methods: AVS was performed in 50 patients who were confirmed as PA between September 2010 and September 2016 in Nanjing Drum Tower Hospital. Clinical, biochemical and follow-up data were reviewed retrospectively. Bilaterally simultaneous catheterization without cosyntropin stimulation and contemporaneous cortisol measurement during AVS were used. Selectivity index (SI)≥1.5 suggested that the sample was from the adrenal vein.Lateralization index (LI) ≥2 suggested unilateral disease.Clinical data was further compared and the AVS findings were analyzed. Results: AVS was successful performed in 41 cases of 50 patients, and the success rate was 82%. According to the results of AVS and postoperative pathology, 41 cases were divided into aldosterone-producing adenoma (APA)/unilateral adrenal hyperplasia (UAH) group (24 cases) and idiopathic hyperaldosteronism (IHA) group (17 cases). Compared with IHA group, patients with APA/UAH showed longer duration of hypertension[10.0 (5.0, 13.0) y vs 4.0 (2.0, 8.0) y, P =0.046], higher proportion of hypokalemia (95.8% vs 64.7%, P =0.009). Furthermore, patients with APA/UAH demonstrated lower plasma renin activity ( P =0.089), higher plasma aldosterone concentration and aldosterone to renin ratio (ARR) (both P AVS. AVS is useful in subtype diagnosis of PA with equivocal imaging findings.

  2. Assessment of the validity of sonography, computed tomography and angiography in diagnosis of the adrenals

    International Nuclear Information System (INIS)

    Georgi, M.; Hofbauer, J.; Weiss, H.; Keller, W.; Wunschik, F.; Mittelstaedt, G. von; Linder, M.; Heidelberg Univ., Mannheim; Heidelberg Univ., Mannheim

    1984-01-01

    Between 1979 and 1982, 47 patients with pathological process of the adrenals were surgically treated after preceding thorough non-evasive angiographic diagnosis (6 phaeochromocytomas, 20 adrenal adenomas, 8 adrenal hyperplasias, 5 adrenal carcinomas, 5 adrenal cysts and 3 adrenal metastases). The most consistently accurate results were obtained via adrenal phlebography with an accuracy of 94%. This was followed by non-evasive computed tomography (87%). Compared with the data given in literature, hormone determination in the adrenal venous blood was less favourable (79%). Selective adrenal arteriography, which was used less often, yielded correct results in 83% of the cases, whereas the number of accurate diagnoses achieved via sonography was lowest with 54%. (orig.) [de

  3. Ultrasound diagnosis of adrenal hemorrhage in meningococcemia

    International Nuclear Information System (INIS)

    Sarnaik, A.P.; Sanfilippo, D.J.K.; Slovis, T.L.; Children's Hospital of Michigan, Detroit; Wayne State Univ., Detroit, MI

    1988-01-01

    Adrenal hemorrhage (AH) is a well-described complication of the neonatal period, anticoagulant therapy, and overwhelming bacterial infection especially with N. meningitis. Until recently the diagnosis of acute AH was based predominantly on autopsy findings. Ultrasound and computed tomography examinations have been successfully used for antemortem detection of AH in neonates and anticoagulated patients. We report two patients with fulminant meningococcal infection who demonstrated bilateral adrenal hemorrhages on ultrasonography. (orig.)

  4. Analysis of adrenocortical hyperplasia by computed tomography in patients with Cushing's disease, idiopathic hyperaldosteronism and adrenogenital syndrome

    International Nuclear Information System (INIS)

    Komiya, Ichiro; Ohara, Noriko; Nagasawa, Yoshitaka; Asawa, Takayuki; Hashizume, Kiyoshi; Takasu, Nobuyuki; Yamada, Takashi.

    1994-01-01

    We assessed the usefulness and reliability of computed tomography (CT scan) in evaluating adrenal hyperplasia in 38 patients, including 14 with Cushing's disease, 17 with idiopathic hyperaldosteronism (IHA), and 7 with the adrenogenital syndrome (AGS). Eighty-two normal subjects were also examined. We analyzed the shape of the adrenal gland and quantitated its thickness, width and length. Visual inspection revealed V-shaped right adrenal glands in 100% of patients with Cushing's disease, 94% of patients with IHA, 100% of patients with AGS and in 41% of the normal subjects. Triangular left adrenal glands were observed in 100% of patients with Cushing's disease, 82% of patients with IHA, 67% of patients with AGS and in 12% of the normal subjects. Quantitative analysis showed that the right adrenal gland was significantly thicker and longer in patients with Cushing's disease, IHA and in those with AGS than in normal subjects. The right adrenal gland was significantly wider in the patients with Cushing's disease and AGS than in control subjects. The left adrenal gland was significantly wider and longer in patients with Cushing's disease and AGS than in the normal controls. Analysis of individual data indicated that the upper limit of normal for thickness of the right adrenal was 7 mm. Therefore, adrenal hyperplasia was strongly suggested when the right adrenal gland was more than 7 mm thick. Our findings suggest that the CT scan is useful and reliable in diagnosing adrenal hyperplasia. (author)

  5. Laparoscopic Adrenalectomy is Feasible for Large Adrenal Masses > 6cm

    Directory of Open Access Journals (Sweden)

    H. Sanjay Bhat

    2007-01-01

    Conclusion: LA is the procedure of choice for small adrenal masses but is also feasible for large functioning and nonfunctioning adrenal masses with equally good results. Even bilateral large functioning tumours can be treated safely by LA in a single stage when sufficient experience with the procedure is attained.

  6. A radioimmunoassay for the detection of adrenal autoantibodies

    International Nuclear Information System (INIS)

    Kosowicz, J.; Gryczynska, M.; Bottazzo, G.F.

    1986-01-01

    A solid phase radioimmunoassay for adrenal antibodies is described. In the assay plastic tubes coated with adrenal microsomes (100 μg/ml) were incubated with human sera diluted from 1:50 to 1:5000 and the retained antibodies detected by subsequent incubation with 125 I-labelled protein A. The method was precise over the range of serum dilution of 1:250 to 1:5000. In the group of 30 patients with Addison's disease 19 had positive results in adrenal antibody radioimmunoassay (RIA). Comparative studies of RIA and immunofluorescence (IFL) revealed that there was partial correlation of adrenal antibody results in patients with high titre antibodies whereas RIA usually was more sensitive than IFL in patients with low titre antibodies. Computerized tomography (CT) displayed bilateral adrenal atrophy in most patients who had adrenal antibodies. On the other hand, patients with low RIA results and negative IFL antibodies had predominantly adrenal calcifications on scans. (author)

  7. Adrenal scintigraphy with Scintadren

    International Nuclear Information System (INIS)

    Dabasi, G.; Irto, I.; Hernady, T.; Balint, I.

    1983-01-01

    68 patients with various adrenal disorders have been examined using Scintadren /TRC Amersham, England/. The parameters of adrenal imaging under Dexamethason suppression and after its discontinuance were established

  8. Adrenal Gland Disorders: Condition Information

    Science.gov (United States)

    ... About Share Facebook Twitter Pinterest Email Print About Adrenal Gland Disorders The adrenal glands, located on the top of ... as estrogen and testosterone. What are adrenal gland disorders? Adrenal gland disorders occur when the adrenal glands do not ...

  9. Computed tomography of the adrenal glands

    International Nuclear Information System (INIS)

    Buck, J.; Reiser, U.; Heuck, F.

    1982-01-01

    Whole body CT opens a third dimension - in addition with the advantage of being a non-invasive method with relatively negligible risk. Both, the normal CT findings of the adrenal gland and the normal variants in shape and position are described. With help of morphometry and image processing measurements of the size of the adrenal gland of 20 healthy patients were made and are listed; not only the respective normal variants but also hypo-hyperplasia are pointed out. Some examples are suitable for the illustration of pathologic conditions, such as inflammation and benign and malignant primary and secondary neoplasis. Finally, the value of adrenal gland CT is discussed with reference to the other radiologic methods. (orig.)

  10. Primary Adrenal Lymphoma Infiltrating in to Pancreas: A Rare Cause of Adrenomegaly

    Directory of Open Access Journals (Sweden)

    Lovelesh Kumar Nigam

    2017-03-01

    Full Text Available Primary adrenal lymphoma is a rare entity and may be suspected in patients having bilateral adrenal masses, with/without lymphadenopathy, and with/without adrenal insufficiency. We report a rare case of a 45-year-old man who presented with pain in the abdomen, with no signs of adrenal insufficiency and bilateral adrenal masses on imaging. Light microscopy findings with immunohistochemistry and flow cytometry confirmed the diagnosis of diffuse large B-cell lymphoma. The patient was offered cyclophosphamide, adriamycin, vincristine, and prednisolone chemotherapy regimen and doing well till the last follow-up. [J Interdiscip Histopathol 2017; 5(1.000: 25-28

  11. Diagnostic evaluation of the adrenal scanning using 131I-adosterol

    International Nuclear Information System (INIS)

    Sugawara, Seiya; Nakamura, Mamoru; Sawai, Yoshikazu; Fukuchi, Soitsu.

    1978-01-01

    We have performed adrenal scanning in the 30 patients with suspected adrenal disorders eight days after the intravenous administration of about 500 μCi of 131 I-adosterol (NCL-6- 131 I), using 5 inch crystal rectilinear scintiscanner. Successful image of the adrenals was obtained in all the patients. In the 30 patients, 27 were proved to have adrenal disorders by surgical and hormonal findings. In 13 patients with primary aldosteronism, the side of adrenal adenoma was diagnosed correctly in all the cases by adrenal scanning. We could detected a small aldosterone-producing adenoma which measured 11 x 8 x 6 mm in size. In two patients with idiopathic hyperaldosteronism, asymmetrical radio-uptake between the two adrenals was seen on the standard scanning, and it was difficult to differentiate between tumor or hyperplasia. Dexamethazone-modified suppression scanning was very effective in lateralizing adenomas in the patients with primary aldosteronism. Two patients with Cushing's syndrome due to adrenal hyperplasia showed prominent and almost equal radioactivity of both the adrenal glands. Adrenal adenomas in 8 patients with Cushing's syndrome were definitely visualized on adrenal scanning, with no uptake in the contralateral sides. In one patient with Cushing's syndrome due to an adrenal carcinoma, adrenal scanning showed significant activity in the area of the carcinoma, and no uptake on the opposite side. In one patient with adrenogenital syndrome due to a virilizing adenoma with focal malignancy, adrenal scanning showed high radioactivity in the region of the tumor, and moderate activity on the opposite side. Also in the case of adrenal carcinoma, we appreciated diagnostic value of the adrenal scanning utilizing 131 I-adosterol. (author)

  12. Multiple adrenal masses: MRI tissue differentiation of pheochromocytoma and adenoma at 1.5 T

    International Nuclear Information System (INIS)

    Slapa, R.Z.; Jakubowski, W.; Feltynowski, T.; Januszewicz, A.

    1997-01-01

    We present the case of 38-year-old hypertensive patient with bilateral adrenal masses and with clinical and biochemical suspicion of pheochromocytoma. Magnetic resonance imaging at 1.5 T established correct diagnosis of coexisting adrenal pheochromocytoma and adenoma (nonhyperfunctioning). The case supports the usefulness of MRI for definitive evaluation of bilateral adrenal masses in patients with suspicion of pheochromocytoma. (orig.). With 2 figs

  13. Adrenal scintigraphy with 131I-19 iodocholesterol. Interest in Cushing syndrome investigation

    International Nuclear Information System (INIS)

    Vuidard, Claudine.

    1977-01-01

    A review of the physico-chemical properties of 131 I-19-iodocholesterol is followed by a study of its metabolism in both animals and man, giving for the latter the doses delivered to different organs and especially to the gonads. The exploration technique is then described. Scintigraphic examinations are performed on the 3rd day, the 8th day and sometimes the 15th day after injection. However the uptake rate at the adrenal gland depends essentially on the causes of the illness affecting the suprarenal. In Cushing's syndrome the uptake rate is relatively fast and the 1st scintigraphic examination must therefore be carried out earlier (48 hours after injection). The value of isotopic exploration in the etiological evaluation of hypercortisolism is shown to be chiefly morphological, the scintigraphic image serving as a guide to etiological diagnosis. If too adrenal glands are visible this is a sign of bilateral suprerenal hyperplasia. Only one gland clearly visible indicates an adenoma, with functional hypoplasia of the contralateral gland. On the other hand an absence of fixation in the presence of a certain Cushing syndrome would point to malignant cortical carcinoma [fr

  14. Biosynthesis of Various Steroids in vitro by Isolated Adrenal Cells in Primary Aldosteronism, Cushing's Syndrome, and Adrenogenital Syndrome due to Adrenocortical Adenoma

    OpenAIRE

    MIZUNO, SHIGERU; FUNAHASHI, HIROOMI

    1981-01-01

    To a further understanding of the role of steroid hormones in adrenal disorders, we have prepared free cell system of adrenal cells, using adrenal tissues that had been removed by operation from (i) cases of Cushing's syndrome due to adrenocortical adenoma or adrenocortical hyperplasia, (ii) a case of primary aldosteronism, and (iii) a patient with virilizing adrenal tumor. Twelve important steroid hormones were measured, such as pregnenolone, cortisol and aldosterone, which were produced by ...

  15. Embryology of the adrenal glands and its relevance to diagnostic imaging

    International Nuclear Information System (INIS)

    Barwick, T.D.; Malhotra, A.; Webb, J.A.W.; Savage, M.O.; Reznek, R.H.

    2005-01-01

    An understanding of the embryology of the adrenal glands is necessary to appreciate the location of adrenal ectopic, or rest, tissue which can occur anywhere along the course of gonadal descent. This tissue usually has no clinical significance, but may become hyperplastic in patients with primary or secondary adrenal pathology. In congenital adrenal hyperplasia, hyperplastic rest tissue may present as a soft-tissue mass, particularly in the gonads and retroperitoneum, and may be mistaken for tumour. The adrenal in the neonate is proportionately much larger than in the adult; in renal ectopy or agenesis the ipsilateral adrenal is normally sited and may be mistaken for a kidney because of its size. This review article illustrates the embryology of the adrenal with particular emphasis on the relevance of embryology to pathology

  16. Trails on 18F-Fluorodeoxyglucose Positron Emission Tomography/Computed Tomography Leading to Diagnosis of Testicular Adrenal Rest Tumor.

    Science.gov (United States)

    Kashyap, Raghava

    2018-01-01

    Testicular adrenal rest tumors (TARTs) are secondary to hypertrophy of adrenal rest cells in the rete testis in settings of hypersecretion of androgens. We present a case of congenital adrenal hyperplasia with TART with clues to the diagnosis on 18 F-fluorodeoxyglucose positron emission tomography/computed tomography ( 18 F-FDG PET/CT). To the best of our knowledge, this is the first reported case on the role of 18 F-FDG PET/CT in TART.

  17. Adrenal Gland Cancer

    Science.gov (United States)

    ... either benign or malignant. Benign tumors aren't cancer. Malignant ones are. Most adrenal gland tumors are ... and may not require treatment. Malignant adrenal gland cancers are uncommon. Types of tumors include Adrenocortical carcinoma - ...

  18. Acute adrenal crisis

    Science.gov (United States)

    ... adrenal gland is damaged due to, for example, Addison disease or other adrenal gland disease, and surgery The ... Call your health care provider if you have Addison disease and are unable to take your glucocorticoid medicine ...

  19. Adrenal Gland Tumors: Statistics

    Science.gov (United States)

    ... Gland Tumor: Statistics Request Permissions Adrenal Gland Tumor: Statistics Approved by the Cancer.Net Editorial Board , 03/ ... primary adrenal gland tumor is very uncommon. Exact statistics are not available for this type of tumor ...

  20. The prevalence of incidentally detected adrenal enlargement on CT

    International Nuclear Information System (INIS)

    Tang, Y.Z.; Bharwani, N.; Micco, M.; Akker, S.; Rockall, A.G.; Sahdev, A.

    2014-01-01

    Aim: To assess the prevalence and the department's detection rate of adrenocortical hyperplasia. Materials and methods: All computed tomography (CT) examinations of the adrenal glands between February and April 2011 were reviewed. The study excluded patients with known underlying cancer, abdominal trauma, or endocrine disease. The adrenal gland was deemed enlarged if its body was greater than 10 mm diameter, or a limb greater than 5 mm. Results: There were a total of 564 eligible CT studies during this period. A total of 64 cases of incidental adrenal enlargement were found giving a prevalence of 11.3%. Only nine cases were reported in the contemporaneous CT report. Conclusion: The results of the present study show that incidental adrenal enlargement has a significant prevalence. It is often dismissed during reporting, and awareness needs to be raised in the radiological community. Equally, the clinical and biochemical significance needs to be assessed with endocrine correlation

  1. Effect of the dose of oral Hydrocortisone on growth rate during long-term treatment of children with salt losing congenital adrenal hyperplasia Efecto de la dosis oral de hidrocortisona sobre la velocidad de crecimiento en niños con la forma perdedora de sodio de la hiperplasia suprarrenal congénita

    Directory of Open Access Journals (Sweden)

    M. Ciaccio

    2002-12-01

    Full Text Available The effect of the dose of oral hydrocortisone on stature growth rate of patients with the salt losing form of congenital adrenal hyperplasia and adequate electrolyte balance was here assessed. Thirty patients (21 girls and 9 boys were followed longitudinally for 0.52 to 8.64 years, between chronological ages 0.35 and 8.64 years. Nine consecutive periods (Ps of follow up were defined in order to compare two auxological parameters, height (H at the end of a follow up P and DH standard deviation score (SDS. According to growth rate during a particular P, two types of Ps were defined: Ps with DH SDS > -0.5 (Group 1, satisfactory growth rate and Ps with DH SDS = or 18 mg/m²/day and grew poorly, but they were able to recover, at least temporarily, when the dose was adjusted during the following years.El propósito del estudio fue evaluar el efecto de la dosis dehidrocortisona sobre la velocidad de crecimiento en pacientes con la forma perdedora de sodio de la hiperplasia suprarrenal congénita, en adecuado balance hidroelectrolítico. Se siguieron en forma longitudinal 30 pacientes (21 niñas y 9 niños durante 0.52 a 8.64 años, con edades cronológicas entre 0.35 y 8.64 años. Se definieron 9 períodos (P consecutivos de seguimiento para comparar: el score de desviación estándar (SDS para talla (T al final del P y el DSDS T (diferencia en el SDS de talla. Se definieron dos tipos de Ps: P con DSDS T > -0.5 (Grupo 1, velocidad de crecimiento satisfactoria y P con DSDS = o 18 mg/m²/día y crecieron poco. Sin embargo, la talla se recuperó cuando la dosis fue ajustada en años posteriores.

  2. Imaging of unilateral adrenal hemorrhages in patients after blunt abdominal trauma: Report of two cases

    Directory of Open Access Journals (Sweden)

    Asli Tanrivermis Sayit

    2017-02-01

    Full Text Available Adrenal hemorrhage following blunt abdominal trauma is extremely rare. Most of the lesions are unilateral and right sided. Although often asymptomatic, life-threatening adrenal insufficiency may develop in the bilateral adrenal gland hemorrhage. Isolated adrenal injuries are very rare. They are often associated with other organ injuries. The mortality rates of patients range from 7% to 32%. In this report, we present the computed tomography and magnetic resonance imaging findings of unilateral adrenal hemorrhages in two patients with a history of fall from a height.

  3. Angiolymphoid Hyperplasia With Eosinophilia

    Directory of Open Access Journals (Sweden)

    Rath Namita

    2002-01-01

    Full Text Available Angiolymphoid hyperplasia with eosinophilia is a disease of the occident. It is mainly seen in middle aged women. It presents as multiple small pink or purple popular or nodular eruptions, in the head and neck area. Lesions of angiolymphoid hyperplasia with eosinophilia are often confused with lesions of Kimura’s disease, which is more common in young males. We report a case of angiolymphoid hyperplasia with eosinophilia in a 34 year old female. The patient is responding to monthly intralesional triamcinolone acetate along with cryotherapy with liquid nitrogen. This case is being reported due to its rarity in Indian patients.

  4. Adrenal Surgery for Cushing's Syndrome: An Update.

    Science.gov (United States)

    Di Dalmazi, Guido; Reincke, Martin

    2018-06-01

    Recent advances in the molecular pathogenesis and the natural history of Cushing's syndrome have improved the understanding of the management of this disease. The long-term efficacy of several cortisol-lowering medical treatments is currently under evaluation. However, adrenalectomy is a safe option for the treatment of patients affected by Cushing's syndrome. Unilateral adrenalectomy is the gold standard for treatment of adrenocortical adenomas associated with hypercortisolism. Bilateral adrenalectomy has been widely used in the past as definitive treatment of bilateral macronodular hyperplasia and persistent or recurrent Cushing's disease. The indication and the potential applications of this technique have been recently critically analyzed. Copyright © 2018 Elsevier Inc. All rights reserved.

  5. Autochthonous blastomycosis of the adrenal: first case report from Asia.

    Science.gov (United States)

    Kumar, Anil; Sreehari, Sreekala; Velayudhan, Kandan; Biswas, Lalitha; Babu, Rachana; Ahmed, Shabeer; Sharma, Neelakanta; Kurupath, Vasanth P; Jojo, Annie; Dinesh, Kavitha R; Karim, Shamsul; Biswas, Raja

    2014-04-01

    Systemic endemic mycoses, such as blastomycosis, are rare in Asia and have been reported as health risks among travelers who visit or reside in an endemic area. Adrenal involvement is rarely seen in blastomycosis and has never been reported from Asia. We report the first case of blastomycosis with bilateral involvement of the adrenals in a diabetic patient residing in the state of Arunachal Pradesh, India.

  6. Dexamethasone-suppression adrenal scintigraphy in hyperandrogenism: concise communication

    Energy Technology Data Exchange (ETDEWEB)

    Gross, M.D.; Freitas, J.E.; Swanson, D.P.; Woodbury, M.C.; Schteingart, D.E.; Beierwaltes, W.H.

    1981-01-01

    To assess the contribution of adrenal-derived androgens in women with hirsutism, adrenal scintigrams under dexamethasone suppression (DS) were performed on 35 women with increasing facial or body hair and irregular or absent menses. Based upon the DS regimen chosen (8 mg/d for 2 days or 4 md/d for 7 days before the injection of 6..beta..-(/sup 131/I)iodomethylnorcholesterol), three imaging patterns were identified. The first was the absence of uptake before 3 days (8-mg DS) or before 5 days (4-mg DS) after injection. This imaging pattern was seen in 17 of the 35 patients studied and was considered normal. The second pattern was bilateral uptake earlier than 3 days (8-mg DS regimen) or 5 days (4-mg DS) after injection. This was seen in 13 of the 35 patients and was interpreted as bilateral early visualization. Adrenal-vein catheterization performed on six patients with this pattern showed increased adrenal-vein testosterone. The third pattern, observed in five patients, was unilateral early visualization, which in four cases investigated to date was the result of an adrenocortical adenoma. This study confirms the adrenal cortex as a source of androgens in women with hirsutism and hyperandrogenism and demonstrates that DS adrenal scintigraphy can be utilized to identify those women in whom adrenal-derived androgens contribute to their hyperandrogenism.

  7. What Are the Treatments for Congenital Adrenal Hyperplasia (CAH)?

    Science.gov (United States)

    ... 751 KB) Screening, Technology and Research in Genetics (STAR-G) Project. (n.d.). Genetic fact sheet for ... Contact Us Publications Sitemap Español facebook twitter pinterest youtube flickr Instagram NEWSROOM NICHD News Videos OUTREACH Safe ...

  8. Congenital adrenal hyperplasia due to 21-hydroxylase deficiency in ...

    African Journals Online (AJOL)

    was measured by Cisbio radioimmunoassay (Cisbio, France), and serum aldosterone and 17-OHP were measured by .... Compared with SV patients, notably more CSW patients (62.1%, n=18) had severe acute malnutrition. SV patients were more likely to be obese (n=5, 45.5%) or overweight (n=6, 54.5%) at presentation ...

  9. Feminizing genitoplasty in congenital adrenal hyperplasia: the value ...

    African Journals Online (AJOL)

    of feminizing genitoplasty after the use of urogenital mobilization. ... the common wall between the vagina and the urethra, hence avoiding the related complications. With the use of the perineal approach, the application of this technique had been extended .... was resolved using systemic and topical antibiotics. Ischemia of ...

  10. Adrenal Vein Catecholamine Levels and Ratios: Reference Intervals Derived from Patients with Primary Aldosteronism

    NARCIS (Netherlands)

    Sze, C.W.C.; O'Toole, S.M.; Tirador, R.K.; Akker, S.A; Matson, M.; Perry, L.; Druce, M.R.; Dekkers, T.; Deinum, J.; Lenders, J.W.M.; Eisenhofer, G.; Drake, W.M.

    2017-01-01

    Phaeochromocytoma localisation is generally reliably achieved with modern imaging techniques, particularly in sporadic cases. On occasion, however, there can be diagnostic doubt due to the presence of bilateral adrenal abnormalities, particularly in patients with mutations in genes predisposing them

  11. Congenital bilateral neuroblastoma (stage IV-S): case report

    International Nuclear Information System (INIS)

    Lee, Jeong Hee; Lee, Hee Jung; Woo, Seong Ku; Lee, Sang Rak; Kim, Heung Sik

    2002-01-01

    Congenital neonatal neuroblastoma is not uncommon but bilateral adrenal neuroblastoma is rare, accounting for about ten percent of neuroblastomas in children. We report the US the MR findings of a stage IV-S congenital bilateral neuroblastoma occurring in a one-day-old neonate

  12. MDCT Findings of Traumatic Adrenal Injury in Children

    International Nuclear Information System (INIS)

    Choi, Seung Joon; Kim, Jee Eun; Ryu, Il; Kim, Jin Joo; Choi, Hye Young

    2011-01-01

    We wanted to evaluate the MDCT findings and concomitant injuries of traumatic adrenal injury in children. Among 375 children who had undergone a MDCT scan for abdominal trauma during the recent five years at our institution, 27 children who had revealed adrenal injury on their CT scan were included in the study. We retrospectively evaluated the causes of the trauma, the patterns of adrenal injury, the associated CT findings and the concomitant injuries of the other organs in the abdomen. We identified 27 children (7.5%) (17 boys and 10 girls, mean age: 9.9 years, range: 2-18 years) with adrenal injury. The causes of adrenal injury were a traffic accident for 20 patients (74%), falls for four patients (15%) and blunt trauma for three patients (11%). The right adrenal gland was injured in 20 patients (74%), while the left adrenal gland was injured in three patients and bilateral involvement was noted in four patients. The patterns of adrenal injury were round or oval shaped hematoma in 23 lesions (74%), irregular hemorrhage with obliterating the gland in six lesions (19%) and active extravasation of contrast material from the adrenal region in two lesions (7%). Concomitant injuries were noted in 22 patients (81%), including 15 patients with liver laceration (56%), 11 patients with lung contusion (41%) and nine patients with renal injury (33%). The frequency of adrenal injury was 7.5%. The right adrenal gland was more frequently involved. Concomitant organ injury was noted 81% of the patients and the most frequently involved organ was the liver (56%)

  13. Laparoscopic Partial Adrenalectomy for Bilateral Cortisol-secreting Adenomas

    Directory of Open Access Journals (Sweden)

    Jeffrey P. Domino

    2007-04-01

    Full Text Available Bilateral cortisol-secreting adenomas are a rare cause of Cushing's syndrome. We report a case of a 35-year-old woman who presented with ACTH-independent Cushing's syndrome and bilateral adrenal adenomas. Adrenal venous sampling confirmed both adenomas to be hyper-secreting cortisol. She underwent bilateral laparoscopic adrenalectomy; total right and partial left adrenalectomies. At 2-year follow-up, she is maintained on low-dose fludrocortisone and hydrocortisone, and without recurrence of hypercorticolism. Laparoscopic partial adrenalectomy is a feasible option for this rare condition; however, long-term follow-up is needed to determine her total independence from steroid usage.

  14. A rare adrenal incidentaloma: adrenal schwannoma.

    Science.gov (United States)

    Adas, Mine; Ozulker, Filiz; Adas, Gokhan; Koc, Bora; Ozulker, Tamer; Sahin, Ilknur Mansuroglu

    2013-01-01

    Adrenal schwannoma is an extremely uncommon cause of incidentaloma. It originates from neural sheath Schwann cells of the adrenal gland. We report the case of a left adrenal schwannoma incidentally discovered in a 32-year-old woman during examination of bloated feeling and stomach ache. The patient was incidentally found to have a left adrenal mass of 9 cm on abdominal ultrasonography. Computed tomography (CT) of the abdomen and [(18)F] fluorodeoxyglucose positron emission tomography (PET) were also performed. Metabolic evaluation was unremarkable. Due to the large size of the tumor, left adrenalectomy was performed. The postoperative course was uneventful. Histological examination established the diagnosis of schwannoma. This diagnosis was supported by immunohistochemistry of S-100 and vimentin positivity. In conclusion, adrenal schwannoma is an extremely rare entity and can grow considerably in size. The present case report emphasizes that clinicians should be aware of the possibility of retroperitoneal schwannoma. Total excision of benign schwannoma is associated with a favorable outcome. To our knowledge, there are case reports of schwannoma with CT and magnetic resonance imaging findings in the literature, although this is the first schwannoma case with PET-CT imaging.

  15. Congenital adrenal hyperplasia: Clinical characteristics and genotype in newborn, childhood and adolescence Hiperplasia suprarrenal congénita: Características clínicas, seguimiento y genotipo en la etapa perinatal, la niñez y la adolescencia

    Directory of Open Access Journals (Sweden)

    Titania Pasqualini

    2007-06-01

    Full Text Available Congenital adrenal hyperplasia (CAH due to 21-hydroxylase deficiency is a disorder which can adopt three clinical expressions: two classical forms -salt-wasting (SW, with residual enzymatic activity (EA La hiperplasia suprarrenal congénita por déficit de 21-hidroxilasa presenta tres formas clínicas: dos clásicas, perdedora de sal, con actividad enzimática (AE < 1% y virilizante simple, con AE 1-2% y una no clásica, con AE 10-60%. Nuestro objetivo es describir las características clínicas y el genotipo de un grupo de pacientes con hiperplasia suprarrenal congénita; este último también se determinó en todos los miembros de la familia. Se estudiaron 9 pacientes diagnosticados en la etapa perinatal y 8 durante la etapa pre y postpuberal. Se analizaron diez mutaciones en el gen CYP21A2 y se evaluó crecimiento y densidad mineral ósea. Once pacientes presentaron la forma clásica: 9 con diagnóstico perinatal y 2 diagnosticados más tardíamente, uno de ellos con agrandamiento testicular por restos adrenales. Todos los pacientes, salvo 1 con una mutación de novo R356W en un alelo, presentaron ambos alelos mutados con un genotipo que predice AE < 2%. Seis pacientes presentaron la forma no clásica, todos con signos clínicos de hiperandrogenismo salvo un familiar asintomático que se diagnosticó por el estudio molecular. Todos, a excepción de uno con un alelo aún no determinado, presentaron la mutación V281L acompañada de otra que predice AE < 2%. Durante la evolución de los pacientes de diagnóstico perinatal se observó talla baja al año con recuperación de la misma en la etapa prepuberal. La densidad mineral ósea fue normal. Podemos concluir que el diagnóstico en la etapa perinatal en pacientes con la forma clásica posibilita un mejor seguimiento y crecimiento. La genotipificación de todos los miembros de una familia permite el diagnóstico de formas asintomáticas. La presencia de mutaciones de novo y de un alelo con una

  16. Pure Androgen-Secreting Adrenal Adenoma Associated with Resistant Hypertension

    Directory of Open Access Journals (Sweden)

    René Rodríguez-Gutiérrez

    2013-01-01

    Full Text Available Pure androgen-secreting adrenal adenoma is very rare, and its diagnosis remains a clinical challenge. Its association with resistant hypertension is uncommon and not well understood. We present an 18-year-old female with a 10-year history of hirsutism that was accidentally diagnosed with an adrenal mass during the evaluation of a hypertensive crisis. She had a long-standing history of hirsutism, clitorimegaly, deepening of the voice, and primary amenorrhea. She was phenotypically and socially a male. FSH, LH, prolactin, estradiol, 17-hydroxyprogesterone, and progesterone were normal. Total testosterone and DHEA-S were elevated. Cushing syndrome, primary aldosteronism, pheochromocytoma, and nonclassic congenital adrenal hyperplasia were ruled out. She underwent adrenalectomy and pathology reported an adenoma. At 2-month followup, hirsutism and virilizing symptoms clearly improved and blood pressure normalized without antihypertensive medications, current literature of this unusual illness and it association with hypertension is presented and discussed.

  17. Morphometric study of the avian adrenal gland.

    Science.gov (United States)

    Aire, T A

    1980-01-01

    The interrenal and medullary cords as well as the blood vessels and connective tissue proportions in the adrenal glands of the male Nigerian fowl (Gallus domesticus) and guinea-fowl (Numida meleagris) were studied by microstereological techniques. Laying domestic fowl of the Rhode Island Red breed were entirely defeathered and maintained in a hot, humid pen for a period of three months, after which the adrenal glands were also studied microstereologically. Interrenal cord width was also measured in all the birds studied. The interrenal cords of the subscapular zone were consistently wider than those cords in the inner zone of the adrenal glands. This clearly suggested morphological zoning. The proportion of interrenal tissue was significantly greater in the guinea-fowl than in the Nigerian fowl, but the medullary tissue and the blood vessels and connective tissue were not significantly different. Interrenal hypoplasia or medullary hyperplasia occurred in the defeathered Rhode Island Red fowl as compared to the control birds of the same breed and sex. The significance of these findings is discussed. PMID:7440402

  18. Chapter 13. Adrenal glands

    International Nuclear Information System (INIS)

    Roux, H.; Paulin, R.

    1975-01-01

    The condition of isotopic methods to the functional and morphological exploration of the adrenal glands is shown, with emphasis on the fact that althought the cortico-adrenal responds to these methods the same does not apply to the medullo-adrenal, which expresses its morphological changes by producing deformations on the cortical image. Funtional tests, mainly directed at the cortico-adrenal, are described first: study of exchangeable sodium and potassium; determination of the plasma concentration and metabolic clearance of some steroid hormones (cortisol, corticosterone, aldosterone); evaluation of the renin activity. These tests are based on competitive analysis and radioimmunological methods. Morphological tests are examined next. Adrenal scintigraphy uses a simple technique (intraveinous administration of 131 I 19-iodocholesterol with no special preliminary preparation) which gives good images and is only limited now by the need to avoid over exposure of the gonads to ionising radiations [fr

  19. Primary pigmented nodular adrenocortical disease presenting with a unilateral adrenocortical nodule treated with bilateral laparoscopic adrenalectomy: a case report

    Directory of Open Access Journals (Sweden)

    Kaltsas Gregory

    2010-07-01

    Full Text Available Abstract Introduction Primary pigmented nodular adrenocortical disease is a rare cause of adrenocorticotropic hormone-independent Cushing's syndrome. We report an uncommon primary pigmented nodular adrenocortical disease case presenting with a unilateral adrenocortical nodule and provide a brief overview of the existing literature. Case presentation A 27-year-old Caucasian woman was admitted to our Department with adrenocorticotropic hormone-independent Cushing's syndrome. Its cause was initially considered a left adrenocortical adenoma based on computer tomography imaging. The patient underwent left laparoscopic adrenalectomy and histological examination revealed pigmented micronodular adrenal hyperplasia. Evaluation for the presence of Carney complex was negative. Six months later recurrence of hypercortisolism was documented and a right laparoscopic adrenalectomy was performed further establishing the diagnosis of primary pigmented nodular adrenocortical disease. After a nine-year follow-up there is no evidence of residual disease. Conclusions Even though primary pigmented nodular adrenocortical disease is a rare cause of Cushing's syndrome, it should be included in the differential diagnosis of adrenocorticotropic hormone-independent Cushing's syndrome, especially because adrenal imaging can be misleading mimicking other adrenocortical diseases. Bilateral laparoscopic adrenalectomy is the preferred treatment in these subjects.

  20. Subareolar Sclerosing Ductal Hyperplasia.

    Science.gov (United States)

    Cheng, Esther; D'Alfonso, Timothy M; Arafah, Maria; Marrero Rolon, Rebecca; Ginter, Paula S; Hoda, Syed A

    2017-02-01

    Subareolar sclerosing duct hyperplasia (SSDH) remains to be fully characterized nearly 20 years after initial description. Thirty-five SSDH cases diagnosed over a 16-year period (January 2000 to December 2015) were reviewed. All patients were female (mean age = 59 years, range = 18-80) who had presented with a unilateral solitary lesion (left 22, right 13) with a mean size of 1.3 cm (range = 0.4-3.0 cm), and showed florid and papillary epithelial hyperplasia with dense sclerosis without involvement of nipple or areolar epidermis. Significant lesions concurrent within SSDH included low-grade adenosquamous carcinoma (n = 1), ductal carcinoma in situ (DCIS; n = 1), lobular carcinoma in situ (LCIS; n = 1), and atypical ductal hyperplasia (ADH; n = 13). No case of SSDH recurred in a mean follow-up of 44 months (range = 6-189). Subsequent significant lesions occurred in 6 patients: DCIS (n = 3; ipsilateral 2, contralateral 1), ipsilateral ADH (n = 2), and ipsilateral atypical lobular hyperplasia (n = 1). Long-term follow-up for patients with SSDH is indicated as DCIS can occur subsequently in either breast.

  1. Roentgenoendovascular destruction of the adrenals in Icenko-Cushing's diseases

    International Nuclear Information System (INIS)

    Yugrinov, O.G.; Komissarenko, I.V.; Cheban, A.K.; Rybakov, S.I.; Eremenko, V.N.; Makarenko, G.I.; Sheptukha, A.I.; Chernij, Ya.M.

    1986-01-01

    The principle of nonoperative adrenalectomy by means of the destruction of the adrenals with the help of roentgenoendovascular intervention was developed. It was based on a transcatheter transvenous route of delivery of a radiopaque agent which was used to control on X-ray screen mechanical damage of the adrenal structural elements (destruction) at the expense of artificial exceeding of the capacity of its venous bed. Excess of the radiopaque agent was deposited in the paravasal spaces of the adrenal on its entire length. Transcatheter transvenous destruction of the adrenals (TTDA) was performed in 97 patients: unilateral TTDA in 62, bilateral in 35. TTDA is a method of choice in the treatment of Icenko-Cushing's disease, in some patients it is an alternative to surgery

  2. Primary adrenal sarcomatoid carcinoma

    Directory of Open Access Journals (Sweden)

    Aftab S. Shaikh

    2014-03-01

    Full Text Available Adrenal sarcomatoid carcinomas are extremely rare tumors presenting with extensive locoregional spread at the time of diagnosis. Patients succumb to metastases within a couple of months. As a result, very few cases are reported in the literature until now. We present a case of a 62-year old female with non-functional sarcomatoid carcinoma of the right adrenal gland. There was no radiological evidence of locoregional metastases. Patient underwent right adrenalectomy. Follow up after 3 months showed para-aortic lymphadenopathy and similar left adrenal mass on computed tomography. Patient refused further treatment and succumbed to the disease. A brief case report with review of literature is presented.

  3. Calcified adrenal cyst

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Chung Kyu; Choi, Byung Sook [Yonsei University College of Medicine, Seoul (Korea, Republic of)

    1970-10-15

    Calcified hemorrhagic adrenal cysts are rather rare and unusual pathologic entity. Especially, the peripheral curvilinear calcification on roentgenogram is fairly characteristic picture of the cysts. Recently, we have experienced in Severance Hospital one of the classical cases of the benign calcified adrenal cyst in 35 year old white mail patient who has had vague abdominal pain and palpable mass in right abdomen. It has been reviewed several reports for adrenal cysts and hoped that this report may call additional attention of radiological diagnosis on this unusual disease.

  4. Adrenal Gland Disorders

    Science.gov (United States)

    ... Cushing's syndrome, there's too much cortisol, while with Addison's disease, there is too little. Some people are born unable to make enough cortisol. Causes of adrenal gland disorders include Genetic mutations Tumors ...

  5. Adrenal imaging agents

    International Nuclear Information System (INIS)

    Davis, M.A.; Hanson, R.N.; Holman, B.L.

    1980-01-01

    The goals of this proposal are the development of selenium-containing analogs of the aromatic amino acids as imaging agents for the pancreas and of the adrenal cortex enzyme inhibitors as imaging agents for adrenal pathology. The objects for this year include (a) the synthesis of methylseleno derivatives of phenylalanine and tryptophan, and (b) the preparation and evaluation of radiolabeled iodobenzoyl derivatives of the selenazole and thiazole analogs of metyrapone and SU-9055

  6. Pseudocarcinomatous hyperplasia of the fallopian tube mimicking tubal cancer: a radiological and pathological diagnostic challenge.

    Science.gov (United States)

    Lee, Nam Kyung; Choi, Kyung Un; Han, Ga Jin; Kwon, Byung Su; Song, Yong Jung; Suh, Dong Soo; Kim, Ki Hyung

    2016-11-14

    Pseudocarcinomatous hyperplasia of the fallopian tube is a rare, benign disease characterized by florid epithelial hyperplasia. The authors present the history and details of a 22-year-old woman with bilateral pelvic masses and a highly elevated serum CA-125 level (1,056 U/ml). Ultrasonography and magnetic resonance imaging (MRI) of the pelvis showed bilateral adnexal complex cystic masses with a fusiform or sausage-like shape. Contrast-enhanced fat-suppressed T1-weighted images showed enhancement of papillary projections of the right adnexal mass and enhancement of an irregular thick wall on the left adnexal mass, suggestive of tubal cancer. Based on MRI and laboratory findings, laparotomy was performed under a putative preoperative diagnosis of tubal cancer. The final pathologic diagnosis was pseudocarcinomatous hyperplasia of tubal epithelium associated with acute and chronic salpingitis in both tubes. The authors report a rare case of pseudocarcinomatous hyperplasia of the fallopian tubes mimicking tubal cancer.

  7. Frequency of Cushing's syndrome due to ACTH-secreting adrenal medullary lesions: a retrospective study over 10 years from a single center.

    Science.gov (United States)

    Falhammar, Henrik; Calissendorff, Jan; Höybye, Charlotte

    2017-01-01

    Cushing's syndrome due to ectopic adrenocorticotropic hormone production from adrenal medullary lesions has occasionally been described. We retrospectively reviewed all 164 cases of Cushing's syndrome and 77 cases of pheochromocytomas during 10 years. Of all cases with Cushing's syndrome, only two cases (1.2 %) were due to ectopic adrenocorticotropic hormone production from adrenal medullary lesions (one case of pheochromocytoma and one case of adrenal medullary hyperplasia). Of all pheochromocytomas only the above-mentioned case (1.3 %) also gave rise to an ectopic adrenocorticotropic hormone syndrome. The clinical presentation of adrenocorticotropic hormone-secreting pheochromocytoma and adrenal medullary hyperplasia can be anything from mild to dramatic. These are rare conditions important to bear in mind in the workup of a patient with Cushing's syndrome or with pheochromocytoma. The identification of ectopic adrenocorticotropic hormone secretion from adrenal medullary lesions can be life-saving.

  8. Multifocal Epithelial Hyperplasia.

    Science.gov (United States)

    Agnew, Caitlin; Alexander, Sherene; Prabhu, Neeta

    2017-01-15

    Multifocal epithelial hyperplasia is a rare disease associated with human papilloma virus types 13 and 32. Diagnosis is based on clinical and histopathological findings, and most lesions are asymptomatic and regress spontaneously with time. The purpose of this paper is to describe a five-year-old girl who presented with multiple intraoral lesions on the buccal mucosa and tongue, which regressed spontaneously in 15 months.

  9. [Bilateral torticollis].

    Science.gov (United States)

    Kustos, T; Magdics, M

    1993-12-19

    Bilateral torticollis is a very rare form of a well known deformity i.e. muscular torticollis. This malformation might present a differential diagnostic problem both for orthopaedic surgeons and ophthalmologists, as well as, for neurologists. In agreement with the literature, the role of an injury during labour or defective embriogenesis is suggested to play a part.

  10. Introduction of a Case of Bilateral Pheochromocytoma Tumor

    Directory of Open Access Journals (Sweden)

    M Zare

    2009-01-01

    Full Text Available Summary: Pheochromocytoma is an adrenal tumor characterized by symptoms of hypertension, headache, increased sweating, and tachycardia .In one third of patients, the tumor is discovered incidentally during radiological evaluation of the abdomen. In this article a case of bilateral pheochromocytoma is reported. The patient, a twelve years old boy, referred with complaints of headache, flushing, palpitation and blurring of vision. He had a blood pressure of 200/120 mmHg and after investigation, coarctation of aorta was excluded. On abdominal ultrasound, bilateral adrenal mass was diagnosed, followed by serial measurements of urinary vanillyl mandellic acid (VMA which was found to be elevated. Meta- Iodio benzyl glunidin (MIBG scan showed increased uptake in both adrenals. Patient underwent laparotomy and bilateral adrenalectomy with the diagnosis of pheochromocytoma. Pathologic report confirmed the diagnosis

  11. [Addison's disease : Primary adrenal insufficiency].

    Science.gov (United States)

    Pulzer, A; Burger-Stritt, S; Hahner, S

    2016-05-01

    Adrenal insufficiency, a rare disorder which is characterized by the inadequate production or absence of adrenal hormones, may be classified as primary adrenal insufficiency in case of direct affection of the adrenal glands or secondary adrenal insufficiency, which is mostly due to pituitary or hypothalamic disease. Primary adrenal insufficiency affects 11 of 100,000 individuals. Clinical symptoms are mainly nonspecific and include fatigue, weight loss, and hypotension. The diagnostic test of choice is dynamic testing with synthetic ACTH. Patients suffering from chronic adrenal insufficiency require lifelong hormone supplementation. Education in dose adaption during physical and mental stress or emergency situations is essential to prevent life-threatening adrenal crises. Patients with adrenal insufficiency should carry an emergency card and emergency kit with them.

  12. Fetal adrenal gland enlargement - prenatal and postnatal management.

    Science.gov (United States)

    Lackova, Eliska; Cunderlik, Anton; Ticha, Lubica; Gabor, Maria

    2017-11-01

    The enlargement of suprarenal gland is related to preterm birth and the birth weight. The ultrasound measurement of fetal adrenal gland volume may identify women at risk for impending preterm birth. The aim of our study was to investigate the newborns in the region of western Slovakia followed up due to suprarenal gland enlargement. To set the ratio of prenatally diagnosed suprarenal gland enlargment, postnatal managment and treatment and interventions. The newborns with congenital adrenal hyperplasia were excluded. We have analyzed 6 years of medical records of all cases from the western Slovakia region of suprarenal gland enlargement encountered to 1st Pediatric Department, Children's University Hospital Bratislava Republic in the time period of January 2010 to Janurary 2016. The diagnosis of suprarenal gland enlargement was set by ultrasound examination performed on the 4th postnatal day as an overall screening test. Newborns with positive laboratory screening on congenital adrenal hyperplasia (CAH) were excluded from our study. We analyzed the origin of surarenal gland enlargement, gestation week on the due date, the birth weight and other comorbidities and genetic pathologies in newborns with the enlarged suprarenal glands. There were 6 newborns followed up due to suprarenal gland enlargement. All of the patients had diagnosed the adrenal haemorrhage. Adrenal lesions like adrenal cysts or neuroblastomas were not confirmed. All of the adrenal enlargements were benign with no need of other medical or surgical intervention. None of the newborn patients had other genetic abnormalities, mineral or hormonal imbalances, problems with arterial pressure or haemodynamic instability. All of the patients underwent at least 5 prenatal ultrasound tests and at least 2 postnatal ultrasound measurements. The avarage birth weight was 3030 grams (2700 grams - to 3750 grams). The avarage birth lenght was 50 cm (47 centimeter to 53 cm).The average gestation week (gw) on due date

  13. Emission tomography for adrenal imaging

    International Nuclear Information System (INIS)

    Britton, K.E.; Shapiro, B.; Hawkins, L.A.

    1980-01-01

    Single photon emission tomography (SPET) of the adrenals was compared to convential gamma camera images. Depths of 19 adrenals were assessed by both the lateral skin-upper kidney pole method and by SPET. Eleven patients with adrenal disorders were also studied. An advantage of using SPET was that the analogue transverse section image showed improvement over the conventional posterior view because the liver activity was well separated from the adrenal. Furthermore, non-adrenal tissue background was virtually eliminated and adrenal depth determination facilitated. (U.K.)

  14. Clinical features, diagnosis, treatment and molecular studies in paediatric Cushing's syndrome due to primary nodular adrenocortical hyperplasia

    DEFF Research Database (Denmark)

    Storr, Helen L; Mitchell, J H; Swords, F M

    2004-01-01

    0.2-0.8 years) from diagnosis. Hypercortisolaemia was treated preoperatively by metyrapone alone 0.50-0.75 g/day (n = 4), metyrapone 0.75-1.50 g/day + o'p'DDD/mitotane 1-2 g/day (n = 1), or ketoconazole (n = 1). Adrenal histology showed nodular cortical hyperplasia with shrinkage of intervening...

  15. Bilateral agreements

    International Nuclear Information System (INIS)

    Anon.

    2004-01-01

    The bilateral agreements concern Brazil with United States relative to the co operation in nuclear energy, Germany with Russian Federation relative to the elimination and disposal of nuclear weapons; The multilateral agreements concerns the signature of the Protocols to amend the Paris and Brussels Conventions, the multilateral nuclear environmental programme in the Russian Federation, the status of Conventions in the field of nuclear energy. (N.C.)

  16. [Adrenal tumours in childhood].

    Science.gov (United States)

    Martos-Moreno, G A; Pozo-Román, J; Argente, J

    2013-09-01

    This special article aims to summarise the current knowledge regarding the two groups of tumours with their origin in the adrenal gland: 1) adrenocortical tumours, derived from the cortex of the adrenal gland and 2) phaeochromocytomas and paragangliomas, neuroendocrine tumours derived from nodes of neural crest derived cells symmetrically distributed at both sides of the entire spine (paragangliomas [PG]). These PGs can be functioning tumors that secrete catecholamines, which confers their typical dark colour after staining with chromium salts (chromaffin tumors). Among these, the term phaeochromocytoma (PC) is restricted to those PGs derived from the chromaffin cells in the adrenal medulla (intra-adrenal PGs), whereas the term PG is used for those sympathetic or parasympathetic ones in an extra-adrenal location. We analyse the state of the art of their pathogenic and genetic bases, as well as their clinical signs and symptoms, the tests currently available for performing their diagnosis (biochemical, hormonal, imaging and molecular studies) and management (surgery, pre- and post-surgical medical treatment), considering the current and developing strategies in chemo- and radiotherapy. Copyright © 2013 Asociación Española de Pediatría. Published by Elsevier Espana. All rights reserved.

  17. 8D.04: CLINICAL BENEFITS OF ADMINISTERING SUPER-SELECTIVE SEGMENTAL ADRENAL VENOUS SAMPLING AND PERFORMING ADRENAL SPARING SURGERY IN THE PATIENTS WITH PRIMARY ALDOSTERONISM.

    Science.gov (United States)

    Satoh, F; Morimoto, R; Ono, Y; Iwakura, Y; Omata, K; Kudo, M; Satani, N; Ota, H; Seiji, K; Takase, K; Nakamura, Y; Sasano, H; Ito, S

    2015-06-01

    Adrenal venous sampling (AVS) has been well known to play pivotal roles in clinical differential diagnosis of unilateral aldosterone producing adenoma (APA) from bilateral idiopathic hyperaldosteronism (IHA). However, it is also true that a central vein AVS or c-AVS which collects the blood from right and left central adrenal veins can by no means discriminate bilateral APA from BHA. There have been no published studies reporting the reliable clinical differential diagnosis between bilateral APA and IHA, especially IHA cases with bilateral non-functioning adenomas (NFA), which has been considered practically impossible in clinical differential diagnosis. As an attempt to this clinical dilemma, segmental AVS (S-AVS), which could evaluate segmental effluents from adrenal tributary veins, has been recently developed. We have performed S-AVS in these patients above following C-AVS, via the insertion of a microcatheter in up to three intra-adrenal first-degree tributary veins on bilateral adrenals. S-AVS did enable us to evaluate the intra-adrenal localization of corticosteroidogenesis. These data did indicate that S-AVS should be performed in the PA patients who had increased aldosterone levels in bilateral central vein and demonstrated space occupying lesions in the bilateral adrenals in order to avoid bilateral adrenalectomy or long lasting medical treatment toward persistent PA. In addition to the situations above, we have administere S-AVS to the following patients; those who had clinically suspected APA but not sufficiently high lateralization indexes according to the results of C-AVS, very young ones with higher clinical probability of recurrence and those who could benefit from partial adrenalectomy by demonstrating the sites of specific steroidogenesis. However, it is also entirely true that S-AVS is more expensive, time-consuming and labor-intensive compared to C-AVS.(Figure is included in full-text article.)The angiography during S-AVS (A, B), the coronal CT

  18. Differential diagnosis of adrenocorticotropic hormone-independent Cushing syndrome: role of adrenal venous sampling.

    Science.gov (United States)

    Martins, Raquel G; Agrawal, Reshma; Berney, Daniel M; Reznek, Rodney; Matson, Matthew; Grossman, Ashley B; Druce, Maralyn R

    2012-01-01

    To outline the potential role for adrenal venous sampling in the diagnosis and management of adrenocorticotropic hormone (ACTH)-independent Cushing syndrome (CS). We present a case description and discuss the management of a 59-year-old woman with an 8-year history of weight gain, centripetal obesity, a round plethoric face, skin thinning, easy bruising, hirsutism, and progressive muscle weakness. The patient reported a prior personal history of asthma, type 2 diabetes mellitus, hypertension, dyslipidemia, and bilateral leg ulcers, but she denied having any personal or family history of endocrinopathy and was not taking any corticosteroid medication. Elevated midnight serum cortisol, failure to suppress cortisol levels with a low-dose dexamethasone suppression test, and undetectable plasma ACTH all indicated ACTH-independent CS. Additional investigations including dynamic tests and adrenal imaging were supported by adrenal venous sampling in order to make a diagnosis and formulate a management plan. She was ultimately noted to have bilateral functioning adrenal nodules (adenoma and adenolipoma) and underwent successful bilateral laparoscopic adrenalectomy, with postoperative glucocorticoid and mineralocorticoid replacement. Adrenal venous sampling may be an important step in the differential diagnosis of CS and localization of the source of cortisol excess. It may distinguish pheochromocytoma or benign nonfunctioning adrenal nodules from cortisol-secreting adenomas and may avoid unnecessary bilateral adrenalectomy. It can also ensure that the correct operation is completed, if required, and thus avoid the increased morbidity and mortality associated with repeated surgical interventions.

  19. Adrenal Insufficiency and Addison's Disease

    Science.gov (United States)

    ... These conditions can lead to an adrenal crisis. Pregnancy Women with adrenal insufficiency who become pregnant are ... can benefit from following a diet rich in sodium. A health care provider or a dietitian can ...

  20. Laparoscopic adrenal cortex

    International Nuclear Information System (INIS)

    Peyrolou, A.; Salom, A.; Harguindeguy; Taroco, L.; Ardao, G.; Broli, F. . E mail: andresssss@adinet.com.uy

    2005-01-01

    The paper presents the case of a female patient who carried an aldosterone-secreting tumor of adrenal cortex.In the analysis of diagnosis and para clinical examinations there is particular reference to the laparoscopic surgery mode of treatment.Diagnosis should be established on the basis of clinical and laboratory tests (hypopotassemia and hyperaldosteronism).Tumor topography was confirmed through CT scan, MRI and Scintiscan in left adrenal cortex.Resection was consequently made through laparoscopic surgery.The patients evolution was excellent from the surgical viewpoint,with I levels of blood pressure, potassium and aldosterone returned to normal

  1. Imaging of adrenal disorders

    International Nuclear Information System (INIS)

    Fukuchi, Soitsu

    1982-01-01

    Adrenal scintillation scanning, CT and ultrasonography are compared with the conventional imaging methods. The accuracy of retroperitoneal pneumography and adrenal venography are not high, and they detected only large tumors such as Cushing's syndrome and pheochromocytoma. Scintillation scanning is highly effective for the diagnoses of primary aldosteronism and Cushing's syndrome. However, this technique does not visualize pheochromocytoma or hypopituitarism. CT is noninvasive and of high diagnostic value. It is impossible to diagnose tumors by ultrasonography unless the size is more than 3 cm. (Chiba, N.)

  2. Incidence of endometrial hyperplasia in 100 cases presenting with polymenorrhagia/menorrhagia in perimenupausal women

    International Nuclear Information System (INIS)

    Takreem, A.; Razaq, S.

    2009-01-01

    To study the Incidence of endometrial hyperplasia in perimenupausal women presenting with polymenorrhagia/menorrhagia. This observational study was conducted at Gynae 'B' unit of Khyber Teaching Hospital Peshawar from January 2000 to December 2001. One hundred consecutive patients who presented at Gynaecology OPD with Polymenorrhagia/ Menorrhagia were registered and incidence of endometrial hyperplasia evaluated in them. All women were above 45 years of age. Post-menopausal bleeding cases were excluded from the study. Out of 100 patients, 15 patients were found to have endometrial hyperplasia, 10 patients (66.6%) simple cystic hyperplasia, 3 patients (20.0%) had adenomotous hyperplasia, 2 patients (13.3%) had atypical hyperplasia, 8 patients (53.3%) with menorrhagia, 1 (6.6%) with polymenorrhagia, and 6 patients (40.0%) with polymenorrhoea. Duration of symptoms was from 4 months to 1 year. Thirteen (86.6%) patients were treated medically, 5 patients (33.33%) needed surgical treatment following medical treatment, 2 patients (13.3%) underwent Total Abdominal Hysterectomy (TAH) and Bilateral Salpingooophorectomy (BSO) who were 51-53 years of age with atypical hyperplasia. endometrial hyperplasia is a pre-malignant condition; if treated in time, incidence can be reduced and early treatment can increase life expectancy and quality in women over age of 45 years. (author)

  3. GATA transcription factors in testicular adrenal rest tumours

    Directory of Open Access Journals (Sweden)

    Manon Engels

    2017-11-01

    Full Text Available Testicular adrenal rest tumours (TARTs are benign adrenal-like testicular tumours that frequently occur in male patients with congenital adrenal hyperplasia. Recently, GATA transcription factors have been linked to the development of TARTs in mice. The aim of our study was to determine GATA expression in human TARTs and other steroidogenic tissues. We determined GATA expression in TARTs (n = 16, Leydig cell tumours (LCTs; n = 7, adrenal (foetal (n = 6 + adult (n = 10 and testis (foetal (n = 13 + adult (n = 8. We found testis-like GATA4, and adrenal-like GATA3 and GATA6 gene expressions by qPCR in human TARTs, indicating mixed testicular and adrenal characteristics of TARTs. Currently, no marker is available to discriminate TARTs from LCTs, leading to misdiagnosis and incorrect treatment. GATA3 and GATA6 mRNAs exhibited excellent discriminative power (area under the curve of 0.908 and 0.816, respectively, while immunohistochemistry did not. GATA genes contain several CREB-binding sites and incubation with 0.1 mM dibutyryl cAMP for 4 h stimulated GATA3, GATA4 and GATA6 expressions in a human foetal testis cell line (hs181.tes. Incubation of adrenocortical cells (H295RA with ACTH, however, did not induce GATA expression in vitro. Although ACTH did not dysregulate GATA expression in the only human ACTH-sensitive in vitro model available, our results do suggest that aberrant expression of GATA transcription factors in human TARTs might be involved in TART formation.

  4. Surgery for adrenal tumors

    International Nuclear Information System (INIS)

    Salamah, S.M.

    2002-01-01

    Objective: To analyze the presentation, localization, pathology, surgical management and outcome of surgery for adrenal gland tumors. Design: Prospective clinico epidemiological study. Place and Duration of Study: The study was conducted at the Department of General Surgery, University Unit, Riyadh medical Complex Kingdom of Saudi Rabia from June, 1991 to may, 2001. Subjects and Methods: A total of 21 cases with adrenal tumors were studied for demographic data, clinical presentation, diagnostic workup, localization, surgical management, pathology and outcome. The outcome of these patients was followed prospectively. Results: The study included 12 female and 9 male patients. The mean age at surgery was 36.7 years. Hypertension (69.%) was the commonest presentation in hypersecretory functional tumors. The localization accuracy for ultrasonography, computerized tomography, MRI and MIBG scan was 95.2%, 98.3% 87.8% and 83.6% respectively. Pheochromocytoma was the most common adrenal pathology observed in 14 (66.6%) cases. The overall morbidity was 19% with no hospital mortality. Complete follow-up of available 19 patients (90.5 %) revealed no tumor recurrence and persistent hypertension in 14.3% cases. Conclusion: surgery on adrenal glands is safe in experienced hands and is recommended in institutes with all backup facilities. (author)

  5. Adrenal pseudocyst. Radiological finds

    International Nuclear Information System (INIS)

    Ortega, E.; Lopez Rasines, G.; Bustos, A.; Otero, M.; Rodriguez, M.I.; Pagola, M.A.

    1991-01-01

    Adrenal cysts are infrequent, the pseudocysts being those that most often produce clinical symptoms. A case of pseudocyst in right suprarenal gland is presented in a young woman with no clinical history, who was studied by means of ultrasound (US) and computerized tomography (CT). (author)

  6. A review of the anatomy and clinical significance of adrenal veins.

    Science.gov (United States)

    Cesmebasi, Alper; Du Plessis, Maira; Iannatuono, Mark; Shah, Sameer; Tubbs, R Shane; Loukas, Marios

    2014-11-01

    The adrenal veins may present with a multitude of anatomical variants, which surgeons must be aware of when performing adrenalectomies. The adrenal veins originate during the formation of the prerenal inferior vena cava (IVC) and are remnants of the caudal portion of the subcardinal veins, cranial to the subcardinal sinus in the embryo. The many communications between the posterior cardinal, supracardinal, and subcardinal veins of the primordial venous system provide an explanation for the variable anatomy. Most commonly, one central vein drains each adrenal gland. The long left adrenal vein joins the inferior phrenic vein and drains into the left renal vein, while the short right adrenal vein drains immediately into the IVC. Multiple variations exist bilaterally and may pose the risk of surgical complications. Due to the potential for collaterals and accessory adrenal vessels, great caution must be taken during an adrenalectomy. Adrenal venous sampling, the gold standard in diagnosing primary hyperaldosteronism, also requires the clinician to have a thorough knowledge of the adrenal vein anatomy to avoid iatrogenic injury. The adrenal vein acts as an important conduit in portosystemic shunts, thus the nature of the anatomy and hypercoagulable states pose the risk of thrombosis. © 2014 Wiley Periodicals, Inc.

  7. Effect of different types of stress on adrenal gland parameters and adrenal hormones in the blood serum of male Wistar rats

    Directory of Open Access Journals (Sweden)

    Adžić M.

    2009-01-01

    Full Text Available In the present study, we examined gross changes in the mass of whole adrenal glands and that of the adrenal cortex and medulla in mature male Wistar rats subjected to three different stress types: acute, chronic, and combined, i.e., chronic followed by acute stress. These parameters were correlated with adrenal activity as judged from serum levels of corticosterone and catecholamine, respectively, as well as with serum levels of ACTH and glucose. Under all three conditions, we observed bilaterally asymmetric and stress-type-independent hypertrophy of whole adrenals, as well as adrenal cortices and medullas. Under acute and combined stress, adrenal hypertrophy was followed by increase of adrenal hormones in the blood serum. However, under chronic stress, both cortical and medullar activities as judged from low or unaltered levels of the respective hormones and glucose were compromised and disconnected from the input signal of ACTH. Since all of the studied adrenal activities could be restored by subsequent acute stress, it is concluded that chronic isolation can be viewed as partly maladaptive stress with characteristics resembling stress resistance rather than the stress exhaustion stage of the general adaptation syndrome.

  8. Papillary tubal hyperplasia

    DEFF Research Database (Denmark)

    Kurman, Robert J; Vang, Russell; Junge, Jette

    2011-01-01

    , designated "papillary tubal hyperplasia (PTH)," characterized by small rounded clusters of tubal epithelial cells and small papillae, with or without associated psammoma bodies, that are present within the tubal lumen and which are frequently associated with APSTs. Twenty-two cases in this study were...... with an ovarian tumor. PTH was found in 20 (91%) of the 22 cases in the Danish study. On the basis of this association of PTH with APSTs with implants and the close morphologic resemblance of PTH, not only to primary ovarian APSTs but also to noninvasive epithelial implants and endosalpingiosis, we speculate...... of ovarian and extraovarian low-grade serous proliferations (APST, noninvasive epithelial implants, and endosalpingiosis) that postulates that all of these lesions are derived from PTH, which appears to be induced by chronic inflammation. If this hypothesis is confirmed, it can be concluded that low...

  9. Primary antiphospholipid antibody syndrome with adrenal hemorrhage in a child : a case report

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Dong Hun; Lee, Soo Hyun; Kim, Hyun Joo; Yoo, Han Wook; Yoon, Chong Hyun [Ulsan Univ. College of Medicine, Seoul (Korea, Republic of)

    1999-11-01

    Primary antiphospholipid antibody syndrome is a disease that is clinically diagnosed if a patient suffers recurrent thromboses, stroke, recurrent fetal loss, livedo reticularis, and thrombocytopenia, without evidence of systemic lupus erythematosus or other connective diseases. Adrenal hemorrhage in a patient with primary antiphospholipid antibody syndrome is a rarely recognized, but potentially catastrophic disorder. We recently encountered bilateral adrenal hemorrhaging in a child with antiphospholipid antibody syndrome and casem as well as reviewing the literature.

  10. Adrenal ganglioneuroma in a patient with polycystic ovarian disease (PCOD): a rare association

    OpenAIRE

    Kumar, Arvind; Singh, Vishwajeet; Sankhwar, Satyanarayan; Babu, Suresh

    2013-01-01

    Adrenal ganglioneuromas are rare, benign incidentalomas of a neural crest origin. A majority of these tumours are clinically silent and discovered on imaging for unrelated reasons. Polycystic ovarian disease (PCOD) is an endocrine disorder characterised by bilateral polycystic ovaries, anovulation leading to infertility, irregular menstrual cycles and features of androgen hormone excess. Herein we report a rare case of adrenal ganglioneuroma in a 14-year-old girl with PCOD. She was referred t...

  11. Primary antiphospholipid antibody syndrome with adrenal hemorrhage in a child : a case report

    International Nuclear Information System (INIS)

    Kim, Dong Hun; Lee, Soo Hyun; Kim, Hyun Joo; Yoo, Han Wook; Yoon, Chong Hyun

    1999-01-01

    Primary antiphospholipid antibody syndrome is a disease that is clinically diagnosed if a patient suffers recurrent thromboses, stroke, recurrent fetal loss, livedo reticularis, and thrombocytopenia, without evidence of systemic lupus erythematosus or other connective diseases. Adrenal hemorrhage in a patient with primary antiphospholipid antibody syndrome is a rarely recognized, but potentially catastrophic disorder. We recently encountered bilateral adrenal hemorrhaging in a child with antiphospholipid antibody syndrome and casem as well as reviewing the literature

  12. A Novel Method of Adrenal Venous Sampling via an Antecubital Approach

    Energy Technology Data Exchange (ETDEWEB)

    Jiang, Xiongjing, E-mail: jxj103@hotmail.com; Dong, Hui; Peng, Meng; Che, Wuqiang; Zou, Yubao; Song, Lei; Zhang, Huimin; Wu, Haiying [Chinese Academy of Medical Sciences and Peking Union Medical College, Department of Cardiology, Fuwai Hospital, National Center for Cardiovascular Disease (China)

    2017-03-15

    PurposeCurrently, almost all adrenal venous sampling (AVS) procedures are performed by femoral vein access. The purpose of this study was to establish the technique of AVS via an antecubital approach and evaluate its safety and feasibility.Materials and MethodsFrom January 2012 to June 2015, 194 consecutive patients diagnosed as primary aldosteronism underwent AVS via an antecubital approach without ACTH simulation. Catheters used for bilateral adrenal cannulations were recorded. The success rate of bilateral adrenal sampling, operation time, fluoroscopy time, dosage of contrast, and incidence of complications were calculated.ResultsA 5F MPA1 catheter was first used to attempt right adrenal cannulation in all patients. Cannulation of the right adrenal vein was successfully performed in 164 (84.5%) patients. The 5F JR5, Cobra2, and TIG catheters were the ultimate catheters for right adrenal cannulation in 16 (8.2%), 5 (2.6%), and 9 (4.6%) patients, respectively. For left adrenal cannulation, JR5 and Cobra2 catheters were used in 19 (9.8%) and 10 (5.2%) patients, respectively, while only TIG catheters were used in the remaining 165 (85.1%) patients. The rate of successful adrenal sampling on the right, left, and bilateral sides was 91.8%, 93.3%, and 87.6%, respectively. The mean time of operation was (16.3 ± 4.3) minutes, mean fluoroscopy time was (4.7 ± 1.3) minutes, and the mean use of contrast was (14.3 ± 4.7) ml. The incidence of adrenal hematoma was 1.0%.ConclusionsThis study showed that AVS via an antecubital approach was safe and feasible, with a high rate of successful sampling.

  13. Limitations of intraoperative adrenal remnant volume measurement in patients undergoing subtotal adrenalectomy.

    Science.gov (United States)

    Brauckhoff, Michael; Stock, Karsten; Stock, Susanne; Lorenz, Kerstin; Sekulla, Carsten; Brauckhoff, Katrin; Thanh, Phuong Nguyen; Gimm, Oliver; Spielmann, Rolf Peter; Dralle, Henning

    2008-05-01

    Recent studies have shown that a minimum of approximately one-third of one normal adrenal gland is required for sufficient adrenocortical stress capacity. Correlation between intraoperative measurement, determination of remnant size by computed tomography (CT), and adrenocortical stress capacity has not been examined so far. Twenty-two patients with familial pheochromocytoma (n=13), sporadic pheochromocytoma (n=3), and adrenocortical tumors (n=6) who underwent unilateral or bilateral subtotal adrenalectomy (STAE, 28 adrenal remnants) were prospectively studied. Patients were examined in a multi-slice CT to determine residual adrenal tissue and by ACTH test 4 days and 3 months postoperatively. There was a slight significant correlation between intraoperative and CT calculated volumes (r=0.77; pSTAE has limitations. CT gives larger volumes compared with intraoperative determination. For calculation of a volume-function correlation of residual adrenal tissue, in clinical practice, the determination of relative adrenal residual volume is acceptable.

  14. Fibrovascular tissue in bilateral juxtafoveal telangiectasis.

    Science.gov (United States)

    Park, D; Schatz, H; McDonald, H R; Johnson, R N

    1996-09-01

    To study the natural history and retinal findings associated with the intraretinal and subretinal fibrovascular tissues that develop in the late phases of bilateral juxtafoveal telangiectasis. The records of 10 patients (11 eyes) with bilateral juxtafoveal telangiectasis who developed these fibrovascular tissues were examined. Throughout the follow-up period (average 44 months), only 2 eyes (18%) lost 2 or more lines of vision; the final visual acuities were similar for the eyes both with and without fibrovascular tissues. Sixty-four percent of fibrovascular tissues showed little to no growth. Eyes with fibrovascular tissue commonly had retinal pigment epithelial hyperplasia (72%), draining retinal venules (82%), and retinal vascular distortion (64%). Fibrovascular tissues of bilateral juxtafoveal telangiectasis have little proliferative potential and minimal effects on visual acuity. Nevertheless, these fibrovascular tissues do remodel over time, leading to retinal vascular distortion. Given these benign findings, the role of laser photocoagulation treatment of these tissues is questionable.

  15. Adrenal hemorrhage presenting as a scrotal hematoma in the newborn: A case report.

    Science.gov (United States)

    Yarci, Erbu; Arayici, Sema; Sari, Fatma Nur; Canpolat, Fuat Emre; Uras, Nurdan; Dilmen, Ugur

    2015-06-01

    Neonatal adrenal hemorrhage is uncommon. It is present in 0,2% of newborns. Ten percent of the cases occur bilaterally. It can be associated with birth trauma, large birth weight, or neonatal course complicated by hypoxia and asphyxia, hypotension, or coagulopathy. Scrotal hematoma is an extremely rare manifestation of NAH. Most patients present scrotal swelling with bluish discolouration. Scrotal swelling with/without bluish discoloration in newborns may result from different causes. We report an unusual case of neonatal adrenal hemorrhage secondary to perinatal asphyxia, associated with SH. Neonatal adrenal hemorrhage and scrotal hematoma were diagnosed by ultrasonography and treated by conservative treatment, avoiding unnecessary surgical exploration.

  16. Is there a role for segmental adrenal venous sampling and adrenal sparing surgery in patients with primary aldosteronism?

    Science.gov (United States)

    Satoh, Fumitoshi; Morimoto, Ryo; Seiji, Kazumasa; Satani, Nozomi; Ota, Hideki; Iwakura, Yoshitsugu; Ono, Yoshikiyo; Kudo, Masataka; Nezu, Masahiro; Omata, Kei; Tezuka, Yuta; Kawasaki, Yoshihide; Ishidoya, Shigeto; Arai, Yoichi; Takase, Kei; Nakamura, Yasuhiro; McNamara, Keely; Sasano, Hironobu; Ito, Sadayoshi

    2015-10-01

    Adrenal venous sampling (AVS) is critical to determine the subtype of primary aldosteronism (PA). Central AVS (C-AVS)--that is, the collection of effluents from bilateral adrenal central veins (CV)--sometimes does not allow differentiation between bilateral aldosterone-producing adenomas (APA) and idiopathic hyperaldosteronism. To establish the best treatment course, we have developed segmental AVS (S-AVS); that is, we collect effluents from the tributaries of CV to determine the intra-adrenal sources of aldosterone overproduction. We then evaluated the clinical utility of this novel approach in the diagnosis and treatment of PA. We performed C-AVS and/or S-AVS in 297 PA patients and assessed the accuracy of diagnosis based on the results of C-AVS (n=138, 46.5%) and S-AVS (n=159, 53.5%) by comparison with those of clinicopathological evaluation of resected specimens. S-AVS demonstrated both elevated and attenuated secretion of aldosterone from APA and non-tumorous segments, respectively, in patients with bilateral APA and recurrent APA. These findings were completely confirmed by detailed histopathological examination after surgery. S-AVS, but not C-AVS, also served to identify APA located distal from the CV. Compared to C-AVS, S-AVS served to identify APA in some patients, and its use should expand the pool of patients eligible for adrenal sparing surgery through the identification of unaffected segments, despite the fact that S-AVS requires more expertise and time. Especially, this new technique could enormously benefit patients with bilateral or recurrent APA because of the preservation of non-tumorous glandular tissue. © 2015 European Society of Endocrinology.

  17. Clinical Characteristics for 348 Patients with Adrenal Incidentaloma

    Directory of Open Access Journals (Sweden)

    Jongho Kim

    2013-03-01

    Full Text Available BackgroundAdrenal incidentaloma is an adrenal neoplasm frequently encountered in clinical practice for which detection rates have recently increased. We describe here the clinical characteristics of adrenal incidentalomas.MethodsA retrospective study was performed examining the age, sex, location, size, function, and the histological findings for 348 patients with an adrenal mass discovered incidentally on computed tomography (CT undertaken for health examination or nonadrenal disease from August 2005 to May 2012.ResultsPatients consisted of 156 males (44.8% and 192 females (55.2%, aged between 20 and 86. Adrenal masses were most commonly found in patients in their sixth decade (32.5%. Regarding the location of the masses, 62.0% were found in the left adrenal gland, 30.2% were found in the right, and 7.8% were found bilaterally. Of all of the masses analyzed, 87.1% were 1 to 4 cm in size, and an adenoma-like appearance was the most common finding (75.3% seen on CT scans. Hormonal analysis showed that 82.2% of the masses were nonfunctioning, 6.0% were diagnosed as subclinical Cushing's syndrome, 4.6% were aldosterone-producing adenomas, and 7.2% were pheochromocytomas. Adrenalectomy was performed in a total of 69 patients having adenoma (50.7%, pheochromocytoma (24.6%, and carcinoma (4.3%.ConclusionThe characteristics of benign, malignant, nonfunctional, and functional adrenal masses that were incidentally found at our hospital were similar to those presented in other studies.

  18. Papillary endothelial hyperplasia in angiokeratoma.

    Science.gov (United States)

    Mehta, Anurag; Sayal, Satish Kumar; Raman, Deep Kumar; Sood, Aradhana

    2003-01-01

    Papillary endothelial hyperplasia (Masson's tumour) is a reactive proliferation of endothelium producing papillary structures with fibrovascular cores. Dilatation, stasis and accompanying inflammation have been incriminated as the inciting events, evident by the presence of this lesion in haemorrhoids, urethral caruncles and laryngeal polyps. We present here a case of papillary endothelial hyperplasia in angiokeratoma hitherto undescribed despite sharing common etiopathogenetic features of dilatation and stasis with other aforementioned lesions.

  19. Bilateral agreements

    International Nuclear Information System (INIS)

    1998-01-01

    Ten bilateral agreements are presented. These are: 1) Co-operation agreement relating to the peaceful uses of nuclear energy between Argentina and EURATOM (1996); 2) Agreement on co-operation in the peaceful uses of nuclear energy between Argentina and Greece (1997); 3) Implementing arrangement for technical exchange and co-operation in the area of peaceful uses of nuclear energy between Argentina and the United States (1997); 4) Agreement concerning co-operation in nuclear science and technology between Australia and Indonesia (1997); 5) Implementation of the 1985 Agreement for co-operation concerning the peaceful uses of nuclear energy between the People's Republic of China and the United States (1998); 6) Protocol of co-operation between France and Lithuania (1997); 7) Agreement on co-operation in energy research, science and technology, and development between Germany and the United States (1998); 8) Agreement on early notification of a nuclear accident and exchange of information on nuclear facilities between Greece and Romania (1997); 9) Agreement on early notification of nuclear accidents and co-operation in the field of nuclear safety between Hungary and the Ukraine (1997); 10) Agreement in the field of radioactive waste management between Switzerland and the United States (1997). (K.A.)

  20. C-Arm Computed Tomography-Assisted Adrenal Venous Sampling Improved Right Adrenal Vein Cannulation and Sampling Quality in Primary Aldosteronism.

    Science.gov (United States)

    Park, Chung Hyun; Hong, Namki; Han, Kichang; Kang, Sang Wook; Lee, Cho Rok; Park, Sungha; Rhee, Yumie

    2018-05-04

    Adrenal venous sampling (AVS) is a gold standard for subtype classification of primary aldosteronism (PA). However, this procedure has a high failure rate because of the anatomical difficulties in accessing the right adrenal vein. We investigated whether C-arm computed tomography-assisted AVS (C-AVS) could improve the success rate of adrenal sampling. A total of 156 patients, diagnosed with PA who underwent AVS from May 2004 through April 2017, were included. Based on the medical records, we retrospectively compared the overall, left, and right catheterization success rates of adrenal veins during the periods without C-AVS (2004 to 2010, n=32) and with C-AVS (2011 to 2016, n=134). The primary outcome was adequate bilateral sampling defined as a selectivity index (SI) >5. With C-AVS, the rates of adequate bilateral AVS increased from 40.6% to 88.7% (PAVS was an independent predictor of adequate bilateral sampling in the multivariate model (odds ratio, 9.01; PAVS improved the overall success rate of AVS, possibly as a result of better catheterization of right adrenal vein. Copyright © 2018 Korean Endocrine Society.

  1. Mandibular pseudocarcinomatous hyperplasia.

    Science.gov (United States)

    Warter, A; Walter, P; Meyer, C; Barrière, P; Galatir, L; Wilk, A

    2000-08-01

    Three unusual cases of pseudocarcinomatous (pseudoepitheliomatous) hyperplasia (PH) affecting chronic osteomyelitic mandibular sequestra are reported to highlight the differences with the various squamous neoplasms which occur in that site. In two patients carrying a mandibular graft following the excision of an ameloblastoma, mucosal ulcers resulted in chronic osteomyelitis. In a third patient, an apical dental infection was associated with fistulated osteomyelitis. Histology of the three sequestra showed an intraosseous squamous proliferation. It was characterized by a peripheral involvement of medullary spaces, the more mature epithelial layer covering the bone trabeculae without intervening stroma, and the basal type epithelial layer surrounding a central fibrovascular core. There were no histological or cytological signs of malignancy. PH shows an inverted pattern when compared with the centro-medullary tumoural islands seen in the various oral or odontogenic squamous neoplasms which occur in the jaws. The lack of signs of malignancy distinguish PH from common squamous cell carcinomas. A short clinical course is an important feature in the distinction of PH from the well differentiated squamous cell carcinomas which may develop in fistulated chronic osteomyelitis.

  2. Prolactin induces adrenal hypertrophy

    Directory of Open Access Journals (Sweden)

    E.J. Silva

    2004-02-01

    Full Text Available Although adrenocorticotropic hormone is generally considered to play a major role in the regulation of adrenal glucocorticoid secretion, several reports have suggested that other pituitary hormones (e.g., prolactin also play a significant role in the regulation of adrenal function. The aim of the present study was to measure the adrenocortical cell area and to determine the effects of the transition from the prepubertal to the postpubertal period on the hyperprolactinemic state induced by domperidone (4.0 mg kg-1 day-1, sc. In hyperprolactinemic adult and young rats, the adrenals were heavier, as determined at necropsy, than in the respective controls: adults (30 days: 0.16 ± 0.008 and 0.11 ± 0.007; 46 days: 0.17 ± 0.006 and 0.12 ± 0.008, and 61 days: 0.17 ± 0.008 and 0.10 ± 0.004 mg for treated and control animals, respectively; P < 0.05, and young rats (30 days: 0.19 ± 0.003 and 0.16 ± 0.007, and 60 days: 0.16 ± 0.006 and 0.13 ± 0.009 mg; P < 0.05. We selected randomly a circular area in which we counted the nuclei of adrenocortical cells. The area of zona fasciculata cells was increased in hyperprolactinemic adult and young rats compared to controls: adults: (61 days: 524.90 ± 47.85 and 244.84 ± 9.03 µm² for treated and control animals, respectively; P < 0.05, and young rats: (15 days: 462.30 ± 16.24 and 414.28 ± 18.19; 60 days: 640.51 ± 12.91 and 480.24 ± 22.79 µm²; P < 0.05. Based on these data we conclude that the increase in adrenal weight observed in the hyperprolactinemic animals may be due to prolactin-induced adrenocortical cell hypertrophy.

  3. Ectopic adrenal tissue of spermatic cord in a 3- year- old boy, an incidental finding during orchidopexy: A case report

    Directory of Open Access Journals (Sweden)

    Biserka Pigac

    2017-11-01

    Full Text Available Ectopic adrenal tissue is usually found in kidney and retroperitoneum, yet other locations are considered uncommon. Spermatic cord remains one of the sites where this entity is mostly incidentally found during surgical procedure in childhood. Macroscopically, it represents as yellowish, lipomatous nodule. We present a case of ectopic adrenal tissue of spermatic cord in a 3- year- old boy, found during orchidopexy of the right testicle. Histopathological analysis of the spermatic cord nodule revealed adrenal cortical tissue composed of zona fasciculata cells. Although usually being benign and asymptomatic, cases of hyperplasia, adenoma and carcinoma arising from ectopic adrenal tissue have been reported. Therefore, removal of this tissue, when detected, is recommended.

  4. [Clinical management of adrenal incidentalomas: results of a survey].

    Science.gov (United States)

    Moreno-Fernández, Jesús; García-Manzanares, Alvaro; Sánchez-Covisa, Miguel Aguirre; García, E Inés Rosa Gómez

    2009-12-01

    Incidentalomas are clinically silent adrenal masses that are discovered incidentally during diagnostic testing for clinical conditions unrelated to suspicion of adrenal disease. Several decision algorithms are used in the management of adrenal masses. We evaluated the routine use of these algorithms through a clinical activity questionnaire. The questionnaire included data on the work center, initial hormonal and radiological study, imaging and hormonal tests performed to complete the study, surgical indications and clinical follow-up. Thirty-three endocrinologists (79%) attending the annual congress of the Castilla-La Mancha Society of Endocrinology, Nutrition and Diabetes completed the questionnaire. Forty-six percent considered tumoral size to be the most important factor suggesting malignancy in the initial evaluation of adrenal incidentalomas, the limit being 4 cm for 78% of the endocrinologists. Imaging study was completed by magnetic resonance imaging by 39%. All the physicians always performed screening for hypercortisolism and pheochromocytoma. Other assessments always conducted in all incidentalomas included hyperaldosteronism (76%), sex hormone-producing tumor (51%) and congenital adrenal hyperplasia (30%). Seventy-nine percent of respondents began to refer incidentalomas larger than 4 cm for surgical treatment, and 46% referred all tumors larger than 6 cm for surgical treatment. With regard to hormonal function, patients with pheochromocytoma, Cushing's syndrome, hyperaldosteronism with poorly controlled blood pressure or sex hormoneproducing tumors were more frequently referred for surgery. Seventy-six percent of endocrinologists performed clinical follow-up in adrenal incidentalomas larger than 4 cm, preferably through computerized tomography (81%), and repeated studies for hormonal hypercortisolism (97%), primary hyperaldosteronism (42%) and pheochromocytoma (76%) over a 4-5 year period (67%). Clinical practice varied among the endocrinologists

  5. [Adrenal insufficiency of the adult].

    Science.gov (United States)

    Jublanc, C; Bruckert, E

    2016-12-01

    Adrenal insufficiency is a rare but life-threatening disorder. Clinical manifestations include fatigue, weight loss, gastrointestinal manifestations and skin hyperpigmentation, the latter being specific of primary adrenal failure. Because of non-specific clinical features of this rare disorder, diagnosis can be delayed and adrenal failure be revealed by an acute crisis. Adrenal insufficiency can be primary (Addison disease), most frequently autoimmune, or secondary, resulting from long term administration of exogenous glucocorticoids or more rarely from pituitary disorders. Monitoring of substitutive treatment is now well codified. Patient education is very important in this chronic disease that remains associated with a persistent high risk of adrenal crisis. Copyright © 2016 Société nationale française de médecine interne (SNFMI). Published by Elsevier SAS. All rights reserved.

  6. Adrenal trauma: Elvis Presley Memorial Trauma Center experience.

    Science.gov (United States)

    Mehrazin, Reza; Derweesh, Ithaar H; Kincade, Matthew C; Thomas, Adam C; Gold, Robert; Wake, Robert W

    2007-11-01

    Adrenal gland injury is a potentially devastating event if unrecognized in the treatment course of a trauma patient. We reviewed our single-center experience and outcomes in patients with adrenal gland trauma. We performed a retrospective review of all patients presenting with trauma to the Regional Medical Center at Memphis who had adrenal gland injuries from January 1991 through March 2006. Each chart was reviewed with attention to the demographics, associated injuries, complications, and outcomes. Patients were stratified into two subgroups according to age (35 years or younger and older than 35 years) to allow for an age-based comparison between the two groups. Of 58,000 patients presenting with trauma, 130 (0.22%) were identified with adrenal injuries, of which 8 (6.2%) were isolated and 122 (93.8%) were not. Of these 130 patients, 125 (96.2%) had their injury diagnosed by computed tomography and 5 (3.8%) had their injury diagnosed during exploratory laparotomy. Right-sided injuries predominated (78.5%), with six (4.6%) bilateral. Four patients (3.1%) underwent adrenalectomy. Seven patients (5.4%) with adrenal injuries died. One patient (0.77%) required chronic steroid therapy. Patients older than 35 years were more likely to have complications such as deep venous thrombosis, pneumonia, and urinary tract infections. Patient age of 35 years or younger was associated with a significantly increased incidence of liver lacerations. Adrenal gland injury is uncommon, although mostly associated with greater injury severity. Although adding to morbidity, most are self-limited and do not require intervention.

  7. Adenomatoid hyperplasia of lower lip

    Directory of Open Access Journals (Sweden)

    Gaganjot Kaur Sharma

    2011-01-01

    Full Text Available Adenomatoid hyperplasia (AH is an uncommon, non-neoplastic swelling on the palate caused due to hyperplasia of the mucinous acini. The lesion clinically presents as a sessile tumor-like nodule resembling pleomorphic adenoma. Histopathologic findings include lobules of enlarged mucinous acini which are filled with secretory granules. The nuclei are squeezed to the basal portions, associated with focal inflammation and ductal dilatation, and a history of trauma is often elicited. Here, we report a rare case of AH of the lower lip in a 20-year-old male patient, which mimics a mucous retention cyst or mucocele.

  8. Thymic hyperplasia in Graves′ disease

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    Narendra Kotwal

    2013-01-01

    Full Text Available Graves′ disease is an autoimmune thyroid condition characterized by the production of autoantibodies against the thyrotropin receptor. It is known to be associated with autoimmune conditions such as myasthenia gravis, Addison′s disease, type 1 diabetes mellitus, and vitiligo. We present a case of rare autoimmune association of Graves′ disease with thymic hyperplasia which regressed after treatment with antithyroid drugs. Exact pathophysiology of thymic hyperplasia in Graves′ is not well understood; it is likely to be the result of rather than the cause of Graves′ disease.

  9. Florid reactive lymphoid hyperplasia of terminal ileum

    OpenAIRE

    Kanakala, Venkatesh; Birch, Peter; Kasaraneni, Ramesh

    2010-01-01

    Florid lymphoid hyperplasia in the terminal ileum can present to surgeons as an acute abdominal pain. Only few cases were reported in the literature. Our case illustrates that a rare case of florid lymphoid hyperplasia can present to surgeons as acute appendicitis. During the operation the gross appearance may mimic Crohn’s disease. A limited resection is sufficient to clinch the diagnosis of florid lymphoid hyperplasia / Crohn’s disease. In florid lymphoid hyperplasia limited resection may b...

  10. Adrenal-derived stress hormones modulate ozone-induced lung injury and inflammation

    Science.gov (United States)

    Ozone-induced systemic effects are modulated through activation of the neuro-hormonal stress response pathway. Adrenal demedullation (DEMED)or bilateral total adrenalectomy (ADREX) inhibits systemic and pulmonary effect of acute ozone exposure. To understand the influence of adre...

  11. Rifampicin-induced adrenal crisis in a patient with tuberculosis: a therapeutic challenge.

    Science.gov (United States)

    Denny, Nicholas; Raghunath, Sarika; Bhatia, Praveen; Abdelaziz, Muntasir

    2016-11-29

    A 55-year-old Indian man presented with productive cough and a large left pleural effusion. Pleural fluid culture grew Mycobacterium tuberculosis, and he was started on antituberculosis therapy. One week later, the patient presented to hospital with drowsiness, dehydration and hypotension. He was transferred to critical care and only improved after starting hydrocortisone and stopping rifampicin. His short synACTHen test subsequently confirmed primary adrenal insufficiency, and a CT of the abdomen showed bilateral adrenal enlargement. Rifampicin is known to accelerate cortisol metabolism. We report the rare case of a rifampicin-induced adrenal crisis as a first presentation of Addison's disease in a patient with tuberculous infiltration of the adrenal glands. 2016 BMJ Publishing Group Ltd.

  12. Ultrasonographic detection of adrenal gland tumor and ureterolithiasis in a guinea pig

    International Nuclear Information System (INIS)

    Gaschen, L.; Ketz, C.; Lang, J.; Weber, U.; Bacciarini, L.; Kohler, I.

    1998-01-01

    A 5-year-old guinea pig was presented to the University of Berne Small Animal Radiology Department for an ultrasound examination of the abdomen to confirm a suspected diagnosis of Cushing's syndrome. The patient had bilateral alopecia, was apathic and obese. Ultrasonographically, a tumor of the left adrenal gland, obstruction of the left ureter by an ureterolith, as well as hydronephrosis of the left kidney were detected. During surgery to relieve the ureteral obstruction the adrenal gland tumor was removed. The guinea pig died post-operatively due to blood loss. The left adrenal gland tumor was found histopathologically to be an adenoma and the right adrenal gland also had multiple small adenomas, but grossly appeared normal. The ureterolith was analyzed and found by x-ray diffraction to consist of calcium carbonate

  13. Long-term results after CT-guided percutaneous ethanol ablation for the treatment of hyper functioning adrenal disorders

    International Nuclear Information System (INIS)

    Frenk, Nathan Elie; Sebastianes, Fernando; Lerario, Antonio Marcondes; Fragoso, Maria Candida Barisson Villares; Mendonca, Berenice Bilharinho

    2016-01-01

    Objectives: To evaluate the safety and long-term efficacy of computed tomography-guided percutaneous ethanol ablation for benign primary and secondary hyper functioning adrenal disorders. Method: We retrospectively evaluated the long-term results of nine patients treated with computed tomography guided percutaneous ethanol ablation: eight subjects who presented with primary adrenal disorders, such as pheochromocytoma, primary macro nodular adrenal hyperplasia and aldosterone-producing adenoma, and one subject with Cushing disease refractory to conventional treatment. Eleven sessions were performed for the nine patients. The patient data were reviewed for the clinical outcome and procedure-related complications over ten years. Results: Patients with aldosterone-producing adenoma had clinical improvement: symptoms recurred in one case 96 months after ethanol ablation, and the other patient was still in remission 110 months later. All patients with pheochromocytoma had clinical improvement but were eventually submitted to surgery for complete remission. No significant clinical improvement was seen in patients with hypercortisolism due to primary macro nodular adrenal hyperplasia or Cushing disease. Major complications were seen in five of the eleven procedures and included cardiovascular instability and myocardial infarction. Minor complications attributed to sedation were seen in two patients. Conclusion: Computed tomography-guided ethanol ablation does not appear to be suitable for the long-term treatment of hyper functioning adrenal disorders and is not without risks. (author)

  14. Long-term Results after CT-Guided Percutaneous Ethanol Ablation for the Treatment of Hyperfunctioning Adrenal Disorders

    Directory of Open Access Journals (Sweden)

    Nathan Elie Frenk

    Full Text Available OBJECTIVES: To evaluate the safety and long-term efficacy of computed tomography-guided percutaneous ethanol ablation for benign primary and secondary hyperfunctioning adrenal disorders. METHOD: We retrospectively evaluated the long-term results of nine patients treated with computed tomography-guided percutaneous ethanol ablation: eight subjects who presented with primary adrenal disorders, such as pheochromocytoma, primary macronodular adrenal hyperplasia and aldosterone-producing adenoma, and one subject with Cushing disease refractory to conventional treatment. Eleven sessions were performed for the nine patients. The patient data were reviewed for the clinical outcome and procedure-related complications over ten years. RESULTS: Patients with aldosterone-producing adenoma had clinical improvement: symptoms recurred in one case 96 months after ethanol ablation, and the other patient was still in remission 110 months later. All patients with pheochromocytoma had clinical improvement but were eventually submitted to surgery for complete remission. No significant clinical improvement was seen in patients with hypercortisolism due to primary macronodular adrenal hyperplasia or Cushing disease. Major complications were seen in five of the eleven procedures and included cardiovascular instability and myocardial infarction. Minor complications attributed to sedation were seen in two patients. CONCLUSION: Computed tomography-guided ethanol ablation does not appear to be suitable for the long-term treatment of hyperfunctioning adrenal disorders and is not without risks.

  15. Long-term results after CT-guided percutaneous ethanol ablation for the treatment of hyper functioning adrenal disorders

    Energy Technology Data Exchange (ETDEWEB)

    Frenk, Nathan Elie; Sebastianes, Fernando; Lerario, Antonio Marcondes; Fragoso, Maria Candida Barisson Villares; Mendonca, Berenice Bilharinho [Universidade de Sao Paulo (USP), SP (Brazil). Faculdade de Medicina; Menezes, Marcos Roberto de, E-mail: menezesmr@gmail.com [Instituto do Cancer do Estado de Sao Paulo, SP (Brazil)

    2016-10-15

    Objectives: To evaluate the safety and long-term efficacy of computed tomography-guided percutaneous ethanol ablation for benign primary and secondary hyper functioning adrenal disorders. Method: We retrospectively evaluated the long-term results of nine patients treated with computed tomography guided percutaneous ethanol ablation: eight subjects who presented with primary adrenal disorders, such as pheochromocytoma, primary macro nodular adrenal hyperplasia and aldosterone-producing adenoma, and one subject with Cushing disease refractory to conventional treatment. Eleven sessions were performed for the nine patients. The patient data were reviewed for the clinical outcome and procedure-related complications over ten years. Results: Patients with aldosterone-producing adenoma had clinical improvement: symptoms recurred in one case 96 months after ethanol ablation, and the other patient was still in remission 110 months later. All patients with pheochromocytoma had clinical improvement but were eventually submitted to surgery for complete remission. No significant clinical improvement was seen in patients with hypercortisolism due to primary macro nodular adrenal hyperplasia or Cushing disease. Major complications were seen in five of the eleven procedures and included cardiovascular instability and myocardial infarction. Minor complications attributed to sedation were seen in two patients. Conclusion: Computed tomography-guided ethanol ablation does not appear to be suitable for the long-term treatment of hyper functioning adrenal disorders and is not without risks. (author)

  16. Computed tomography and (18)F-fluorodeoxyglucose positron emission tomography/computed tomography findings in adrenal candidiasis and histoplasmosis: two cases.

    Science.gov (United States)

    Altinmakas, Emre; Guo, Ming; Kundu, Uma R; Habra, Mouhammed Amir; Ng, Chaan

    2015-01-01

    We report the contrast-enhanced computed tomography (CT) and (18)F-fluorodeoxyglucose positron emission tomography findings in adrenal histoplasmosis and candidiasis. Both demonstrated bilateral hypermetabolic heterogeneous adrenal masses with limited wash-out on delayed CT. Adrenal candidiasis has not been previously reported, nor have the CT wash-out findings in either infection. The adrenal imaging findings are indistinguishable from malignancy, which is more common; but in this setting, physicians should be alert to the differential diagnosis of fungal infections, since it can be equally deadly. Published by Elsevier Inc.

  17. The role of computed tomography in assessment of endocrine adrenal disorders in adult patients. Report of fifty-six cases

    International Nuclear Information System (INIS)

    Laissy, J.P.; Genevois, A.; Assailly, C.; Janvresse, A.; Louvel, J.P.; Benozio, M.; Fournier, L.; Denizet, D.; Clement, J.F.

    1987-01-01

    A prospective CT study has been performed in 56 patients in order to define its usefulness in the diagnosis of adrenal masses accompanying an endocrine syndrome. CT data have been compared with clinical, biological and surgical data. CT scan accuracy is variable with different endocrine disorders, better in pheochromocytoma than in Cushing syndrome. In this syndrome, size of the mass and density after contrast media injection may differentiate adenoma from hyperplasia in difficult cases. In hyperaldosteronism, significant differences in densities contribute to the diagnosis between adenoma and hyperplasia [fr

  18. Diagnosis of adrenal tumors

    Energy Technology Data Exchange (ETDEWEB)

    Richter, E.I.; Loesch, H.

    1987-09-01

    Of 155 patients with adrenal disorders, 120 (77%) were correctly diagnosed as negative. There were no correlations between the results of computer tomography and phlebography or between computer tomography and laboratory tests. In 31 patients (20%) a correct diagnosis was obtained and these patients were sent to surgery. Four cases (3%) were shown to be false positive. In these cases (with one exception), both the computer tomography and phlebography results had been overinterpreted. Computer tomography was shown to be a method of high sensitivity and almost as great specificity. Tumors cannot be distinguished by phlebography; only pheochromocytoma shows a characteristic alteration of vessels in arteriograms. In general, an accurate diagnosis requires positive angiography (arterio- or phlebography) results and clear evidence of elevated hormone levels. Only then is surgery indicated.

  19. Diagnosis of adrenal tumors

    International Nuclear Information System (INIS)

    Richter, E.I.; Loesch, H.

    1987-01-01

    Of 155 patients with adrenal disorders, 120 (77%) were correctly diagnosed as negative. There were no correlations between the results of computer tomography and phlebography or between computer tomography and laboratory tests. In 31 patients (20%) a correct diagnosis was obtained and these patients were sent to surgery. Four cases (3%) were shown to be false positive. In these cases (with one exception), both the computer tomography and phlebography results had been overinterpreted. Computer tomography was shown to be a method of high sensitivity and almost as great specificity. Tumors cannot be distinguished by phlebography; only pheochromocytoma shows a characteristic alteration of vessels in arteriograms. In general, an accurate diagnosis requires positive angiography (arterio- or phlebography) results and clear evidence of elevated hormone levels. Only then is surgery indicated. (orig.) [de

  20. Computed tomography morphology of the adrenal glands of patients with Addison's disease

    International Nuclear Information System (INIS)

    Ammini, A.C.; Gupta, R.; Mukopadhyay, C.; Shah, P.; Sandhu, M.S.; Vijayaraghavan, M.; Berry, M.

    1996-01-01

    To study the morphology of the adrenal glands of patients with Addison's disease an ultrasound and a computed tomographic scan of the adrenal glands were performed in 28 patients. Thirteen patients had bilateral, asymmetric adrenal enlargement. In six of these patients, areas of necrosis and calcification were also seen. Six patients had atrophic glands with calcification and nine patients had normal/atrophic glands without calcification. After instituting appropriate treatment, computed tomography (CT) was repeated between 6 months and 3 years later in 10 of the 13 patients with adrenal enlargement. A reduction in gland size was noted in all patients and one had functional recovery. It is concluded that the appearance of the adrenal glands on CT depends not only on the nature of the underlying disease but also on the duration of the illness and the type of treatment. The results highlighted the importance of studying adrenal morphology during the initial evaluation of patients with adrenal insufficiency. 11 refs., 4 tabs., 4 figs

  1. Effects of adrenalectomy, adrenal regeneration, and renal irradiation on blood pressure

    International Nuclear Information System (INIS)

    Rosenblum, M.; Casarett, G.W.

    1979-01-01

    Adrenalectomized, adrenal-enucleated and adrenal-intact rats were sham-irradiated or received an x-ray dose of 1100 rad bilaterally to temporarily exteriorized kidneys. Systolic blood pressures were measured at 10, 25, 40, 60, and 80 days after irradiation. At 100 days after irradiation the rats were sacrificed for gross pathologic examination and renal histopathologic studies of the kidneys. Adrenalectomy alone caused a significant drop in blood pressure which persisted throughout the experiment; adrenal regeneration in adrenal-enucleated rats or in those adrenalectomized rats in which adrenal tissue regenerated caused a significant increase in systolic blood pressure after 80 days postirradiation. Irradiation of adrenal-intact, adrenal-regenerating, or adrenalectomized rats did not cause significant elevation of blood pressure in comparison with that of the corresponding nonirradiated controls. Rats showing subtle renal histological changes usually showed somewhat higher blood pressures than rats showing no renal histological changes; a few rats which became severely hypertensive showed considerable histopathological changes in kidneys and other organs

  2. MR imaging in adrenal diseases

    International Nuclear Information System (INIS)

    Juliani, G.; Avateneo, T.; Potenzoni, F.

    1988-01-01

    Twenty-five patients affected by adrenal glands pathology underwent CT and MRI: 6 nonfuctioning adenomas, 2 Cushing's adenomas, 2 Conn's adenomas, 6 metastases, 3 cystis, 2 carcinomas (Cushing's syndrome), 1 Lymphoma and 3 pheochromocytomas. Diagnosis was subsequently confirmed either at surgery, or autopsy, or with needle biopsy. In all cases normal adrenal glands and pathological lesions were showed by MRI. T1 signal intensity and mass diameter were compared with T2 signal intensity, represented by the intensity ratio between the adrenal mass vs normal hepatic parenchyma. MRI signal intensity, usually high in case of malignancy and low in adenomas, shows a mean value which is much wider than that referred to mass diameter evaluation (carcinoma is larger than adenoma); for this reason those findings have proved to be insufficiently accurate for adrenal tissue characterization, even for the evaluation of cysts and pheochromocytomas. In the same cases CT showed higher accuracy

  3. CT findings of adrenal schwannoma

    International Nuclear Information System (INIS)

    Zhang, Y.-M.; Lei, P.-F.; Chen, M.-N.; Lv, X.-F.; Ling, Y.-H.; Cai, P.-Q.; Gao, J.-M.

    2016-01-01

    Aim: To analyse the computed tomography (CT) imaging features of patients with adrenal schwannoma. Materials and methods: Eight cases of adrenal schwannoma confirmed by histopathology were included in this study. All eight patients had undergone multiphase CT examinations. The features of the adrenal schwannoma in the CT images were analysed retrospectively in detail, including size, shape, margin, radiodensity, calcification, and enhancement pattern. Results: There were six male and two female patients, with a median age of 44.5 years (range, 25–52 years). Two patients complained of right flank pain, and two with left upper abdominal discomfort, while the remaining patients were diagnosed by routine ultrasound examinations. On unenhanced CT images, all cases of adrenal schwannoma were well circumscribed, rounded or oval, heterogeneous masses with cystic components, with two cases exhibiting calcification, and three cases with septa. On enhanced CT images, all cases displayed mild heterogeneous enhancement of the tumour during the arterial phase, and progressive enhancement during the portal venous phase and equilibrium phase. Conclusion: Adrenal schwannoma commonly presents as a well-defined unilateral mass with cystic degeneration, septa, and a characteristic progressive contrast-enhancement pattern on multiphase enhanced scans. - Highlights: • Adrenal schwannomas were extremely rare, and eight cases' medical data of this disease were collected in this study. • They usually presented a well-defined unilateral mass with cystic degeneration and sepations. • They manifested characteristic progressive contrast enhancement pattern on enhanced CT images.

  4. Primary aldosteronism and hypercortisolism due to bilateral functioning adrenocortical adenomas.

    Science.gov (United States)

    Oki, Kenji; Yamane, Kiminori; Sakashita, Yu; Kamei, Nozomu; Watanabe, Hiroshi; Toyota, Naoyuki; Shigeta, Masanobu; Sasano, Hironobu; Kohno, Nobuoki

    2008-10-01

    A 50-year-old male patient with a 15-year history of hypertension was referred to our hospital for evaluation of bilateral adrenal tumors. No Cushingoid features were observed. Computed tomographic scan showed 10-mm masses in each adrenal gland. Preoperative endocrinological examinations revealed autonomous cortisol and aldosterone secretion in this patient. The results of a subsequent adrenal venous catheterization study were consistent with the presence of a left cortisol-producing tumor and a right aldosterone-producing tumor. A left partial adrenalectomy was performed initially, but cortisol and aldosterone over-secretion persisted. Accordingly, the patient underwent a right adrenalectomy. Pathological examination of the resected specimens, including immunohistochemical analysis, demonstrated that both adenomas possibly produced cortisol and aldosterone. This is an extremely rare case of bilateral adrenal tumors, in which the left adrenocortical tumor produced and secreted cortisol or both cortisol and aldosterone and the right one produced and secreted both aldosterone and cortisol, as confirmed by clinical findings and pathological studies using immunohistochemical analysis.

  5. Angiolymphoid hyperplasia with follicular mucinosis

    Directory of Open Access Journals (Sweden)

    Joshi Rajiv

    2007-01-01

    Full Text Available Follicular mucinosis occurring along with angiolymphoid hyperplasia with eosinophils (ALHE has been described in a 54-year-old female. The patient presented with pruritic erythematous papules on the left frontoparietal scalp. Histopathological examination showed prominent blood vessels in the dermis lined by plump histiocytoid endothelial cells that were surrounded by a dense lymphoid infiltrate with numerous eosinophils; these findings are typical of angiolymphoid hyperplasia with eosinophils. Features of follicular mucinosis were observed in the same section with several hyperplastic follicular infundibula containing pools of mucin in the infundibular epithelium. The concurrent occurrence of these two distinct histopathological patterns in the same biopsy specimen has been described in only three cases to date.

  6. Acute adrenal failure as the presenting feature of primary antiphospholipid syndrome in a child

    Directory of Open Access Journals (Sweden)

    Improda Nicola

    2012-09-01

    Full Text Available Abstract Introduction Antiphospholipid syndrome (APS is characterized by recurrent arterial and venous thrombosis and detection of antiphospholipid antibodies (aPLs. This syndrome may be associated with connective tissue disorders, or with malignancies, but it may also appear in isolated form (primary APS. We report on a pediatric patient presenting with acute adrenal failure as the first manifestation of primary APS. Case report A previously healthy 11-year-old boy developed fever, abdominal pain, and vomiting. An abdominal computed tomography scan showed nodular lesions in the adrenal glands. He was referred to our Department and a diagnosis of APS and acute adrenal failure was considered, based on positive aPLs (IgG and IgM, elevated ACTH levels and low cortisol levels. Other features were anemia, thrombocytopenia, elevated inflammatory parameters, hypergammaglobulinemia, prolonged partial thromboplastin time, positive antinuclear, anticardiolipin, anti-platelet antibodies, with negative double-stranded DNA antibodies. Lupus anticoagulant and Coomb’s tests were positive. MRI revealed a bilateral adrenal hemorrhage. A treatment with intravenous metylprednisolone, followed by oral prednisone and anticoagulant, was started, resulting in a progressive improvement. After 2 months he also showed hyponatremia and elevated renine levels, indicating a mineralcocorticoid deficiency, requiring fludrocortisones therapy. Conclusion The development of acute adrenal failure from bilateral adrenal haemorrhage in the context of APS is a rare but life-threatening event that should be promptly recognized and treated. Moreover, this case emphasizes the importance of the assessment of aPLs in patients with acute adrenal failure in the context of an autoreaction.

  7. Unilateral Condylar Hyperplasia of the Mandible

    Directory of Open Access Journals (Sweden)

    Malachovsky I

    2015-12-01

    Full Text Available Condylar hyperplasia (CH of the mandible is a rare pathology that occurs at the head of the condyle and can lead to facial asymmetry affecting occlusion and possible association with pain and dysfunction. Unilateral condylar hyperplasia is an uncommon condition of unknown aetiology, proper diagnosis of which has to be established, as the patients may look for surgical help. A rare case of unilateral condylar hyperplasia of the mandible is reported here.

  8. Lipomatosis: a diverse form of hemifacial hyperplasia

    International Nuclear Information System (INIS)

    Arora, Preeti Chawla; Umarji, Hemant R.; Arora, Aman; Ramaswami, Easwaran

    2012-01-01

    A case of hemifacial hyperplasia that presented with muscular, skeletal, and dental hyperplasia along with lipomatous infiltration was described. Advanced imaging was useful in identifying the lipomatous infiltration present in the lesion, which raises the possibility of lipomatosis having a diverse presentation in hemifacial hyperplasia. As there was a scarcity of related literature in the field of dentomaxillofacial radiology, this report would make us familiar with its computed tomographic and magnetic resonance image findings.

  9. [Hemorrhagic adrenal pseudocyst: case report].

    Science.gov (United States)

    Basile, G; Buffone, A; Cicciarella, G; di Mari, P; Cirino, E

    2004-01-01

    Adrenal cysts are usually asymptomatic; they are usually identified occasionally during ultrasound or C.T. scans (incidentaloma). Among adrenal cysts the most common types are epithelial cysts and pseudocysts. Intracystic haemorrhage is one of the possible complications of adrenal pseudocysts. We report a case of a young woman with right superior abdominal pain, fever and acute anemia. A C.T. scan showed a 10 cm. mass between the liver and the right kidney. To be sure of the nature of this mass also M.R., urography and C.T.-guided biopsy were carried out. This latter only let us make the final diagnosis of hemorrhagic adrenal pseudocyst. Thereafter, a laparotomic right adrenalectomy was performed, with full recovery of the patient. Adrenal cysts may cause differential diagnostic problems with masses of contiguous organs like kidney, liver and gallbladder. For this reason, ultrasound and C.T. scans may not be sufficient and must be completed by M.R., urography and/or C.T.-guided biopsy. Intracystic hamorrhage, spontaneous or post-traumatic, may cause to the patient acute anemia which, as soon as the diagnosis is confirmed, indicates surgery. The operation usually is a laparotomic adrenalectomy, since the laparoscopic approach is not sufficient to control large masses with active bleeding inside.

  10. Bilateral adrenalectomy for Cushing's syndrome: Pros and cons

    Directory of Open Access Journals (Sweden)

    O P Prajapati

    2015-01-01

    Full Text Available Aim: To assess the outcome of patients undergoing bilateral adrenalectomy for Cushing's syndrome (CS. Methods: All patients who underwent bilateral adrenalectomy for CS at the Department of Endocrine Surgery, Sanjay Gandhi Postgraduate Institute of Medical Sciences hospital between 1991 and 2013 were included. Medical records were reviewed to obtain patient characteristics and follow-up data. Results: Twenty-seven patients were studied. Mean age was 28.74 ± 12.95 years (range 9–60, male:female ratio was 1.7:1. About half that is, 48.19% were of Cushing's disease (failed trans-sphenoidal surgery [TSS], 37.04% were of ectopic CS (ECS, and 14.81% were of CS due to bilateral adrenal pathology. Median follow-up period was 80.5 months. Before surgery, 74.1% patients had body mass index > which after surgery declined to <25 in 75% of them. Hypertension was present in 85.2% and after surgery resolved in 40%. Diabetes mellitus was present in 44.4% and after surgery resolved in 33% of them. Hirsutism and proximal muscle weakness were present in 55.6% and 70.4% patients, respectively, and after surgery improved markedly in all patients. Adrenal crisis developed in 36.3% and Nelson's syndrome in 41.7% patients during follow-up. Three patients died in perioperative period while three succumbed to the disease during follow-up. Two patients developed recurrence of endogenous cortisol production during the follow-up period. Conclusions: Bilateral adrenalectomy is a valid treatment option for palliating severe symptoms in Pituitary Cushing's with failed TSS and unlocalized ECS but the procedure is curative for CS due to bilateral adrenal disease. Overall morbidity and mortality is higher than other endocrine operations. Co-morbidities tend to be more severe and are a risk factor for mortality during the time patient survives.

  11. Bone Health in Adrenal Disorders

    Directory of Open Access Journals (Sweden)

    Beom-Jun Kim

    2018-03-01

    Full Text Available Secondary osteoporosis resulting from specific clinical disorders may be potentially reversible, and thus continuous efforts to find and adequately treat the secondary causes of skeletal fragility are critical to ameliorate fracture risk and to avoid unnecessary treatment with anti-osteoporotic drugs. Among the hyperfunctional adrenal masses, Cushing's syndrome, pheochromocytoma, and primary aldosteronism are receiving particularly great attention due to their high morbidity and mortality mainly by increasing cardiovascular risk. Interestingly, there is accumulating experimental and clinical evidence that adrenal hormones may have direct detrimental effects on bone metabolism as well. Thus, the present review discusses the possibility of adrenal disorders, especially focusing on pheochromocytoma and primary aldosteronism, as secondary causes of osteoporosis.

  12. [Immunoendocrine associations in adrenal glands].

    Science.gov (United States)

    Sterzl, I; Hrdá, P

    2010-12-01

    Immune and endocrine systems are basic regulatory mechanisms of organism and, including the nervous system, maintain the organism's homeostasis. The main immune system representatives are mononuclear cells, T- and B-cells and their products, in the endocrine system the main representatives are cells of the glands with inner secretion and their products. One of the most important glands for maintaining homeostasis are adrenal glands. It has been proven that either cells of the immune system, either endocrine cells can, although in trace amounts, produce mutually mediators of both systems (hormones, cytokines). Disorders in one system can lead to pathological symptoms in the other system. Also here represent adrenals an important model.

  13. Adrenocorticotropic Hormone-Independent Cushing Syndrome with Bilateral Cortisol-Secreting Adenomas

    Directory of Open Access Journals (Sweden)

    Eu Jeong Ku

    2013-06-01

    Full Text Available A 48-year-old woman was incidentally found to have bilateral adrenal masses, 2.8 cm in diameter on the right, and 2.3 cm and 1.7 cm in diameter on the left, by abdominal computed tomography. The patient had a medical history of hypertension, which was not being controlled by carvedilol, at a dose of 25 mg daily. She presented with signs and symptoms that suggested Cushing Syndrome. We diagnosed adrenocorticotropic hormone (ACTH-independent Cushing Syndrome based on the results of basal and dynamic hormone tests. Adrenal vein sampling (AVS was performed to localize a functioning adrenal cortical mass. AVS results were consistent with hypersecretion of cortisol from both adrenal glands, with a cortisol lateralization ratio of 1.1. Upon bilateral laparoscopic adrenalectomy, bilateral ACTH-independent adrenal adenomas were found. The patient's signs and symptoms of Cushing Syndrome improved after surgery just as the blood pressure was normalized. After surgery, the patient was started on glucocorticoid and mineralocorticoid replacement therapy.

  14. Differential diagnosis of adrenal gland masses

    International Nuclear Information System (INIS)

    Szolar, D.H.M.; Unger, B.; Preidler, K.; Ranner, G.; Heinz-Peer, G.

    1999-01-01

    Computed tomography (CT) and magnetic resonance (MR) imaging are first line modalities in the evaluation of patients with adrenal gland masses, and have the potential to be very accurate for the localization of adrenal gland masses in patients with diseases associated with hyperfunctioning conditions of the adrenal gland. Both CT and MR imaging allow a specific diagnosis of acute adrenal hemorrhage, adrenal myelolipoma, and adrenal cysts. CT is also helpful in the assessment of patients with Addision's disease, particularly the subacute from secondary to granulomatous diseases. Quantitative evaluation of adrenal masses on unenhanced CT scans and/or qualitative analysis on chemical-shift MR imaging have been shown to be accurate in distinguishing adrenal adenomas from non-adenomas. Attenuation of 11 HE or less on unenhanced CT scans and/or signal loss on opposed phase MR images indicate adenoma with a high specificity and acceptable sensitivity. More recently, delayed-enhanced CT has yielded higher sensitivity and specificity values in distinguishing between adrenal adenomas and non-adenomas than both unenhanced CT and chemical-shift MR imaging do. On delayed-enhanced CT scans, adrenal adenomas exhibit a greater washout of contrast material than do adrenal non-adenomas. Therefore, adrenal non-adenomas have significantly higher attenuation than adenomas on delayed-enhanced CT scans obtained at several arbitrarily chosen time points (3-60 min) after the initiation of contrast material administration. (orig.) [de

  15. Spontaneous Retroperitoneal Hemorrhage from Adrenal Artery Aneurysm

    International Nuclear Information System (INIS)

    Gonzalez Valverde, F.M.; Balsalobre, M.; Torregrosa, N.; Molto, M.; Gomez Ramos, M.J.; Vazquez Rojas, J.L.

    2007-01-01

    Spontaneous adrenal hemorrhage is a very rare but serious disorder of the adrenal gland that can require emergent treatment. We report on a 42-year-old man who underwent selective angiography for diagnosis and treatment of retroperitoneal hemorrhage from small adrenal artery aneurysm. This case gives further details about the value of transluminal artery embolization in the management of visceral aneurysm rupture

  16. Principles and management of adrenal cancer

    International Nuclear Information System (INIS)

    Javadpour, N.

    1987-01-01

    Principles and Management of Adrenal Cancer is a comprehensive presentation of the medical and surgical management of neoplastic diseases of the adrenal glands. It consists of two parts. The first provides an overview of the embryology, anatomy, physiology, pathology, and advances in methods of diagnosis and imaging techniques. The second deals with specific diseases of the adrenal cortex and medulla. (orig./MG)

  17. Neonatal adrenal hemorrhage presenting as acute scrotum

    African Journals Online (AJOL)

    Introduction. In newborns, adrenal hemorrhage is not an uncommon event. The large size of the adrenal cortex contributes to an increased vulnerability to trauma during a difficult delivery [1]. However, the neonatal adrenal hemorrhage may rarely present as inguinoscrotal swelling [2,3]. This condition can simulate torsion of ...

  18. Focal nodular hyperplasia: imaging findings

    Energy Technology Data Exchange (ETDEWEB)

    Kehagias, D.; Moulopoulos, L.; Antoniou, A.; Hatziioannou, A.; Smyrniotis, V.; Trakadas, S.; Lahanis, S.; Vlahos, L. [Dept. of Radiology, University of Athens (Greece)

    2001-02-01

    Focal nodular hyperplasia is an uncommon benign hepatic tumor that continues to pose diagnostic dilemmas. Imaging techniques are of great value in diagnosis of this tumor. In this article we present the US, CT, MR imaging, scintigraphy, and angiography findings. The demonstration of a central vascular scar is very helpful. Although the radiologic features may be diagnostic, many atypical cases must be differentiated from other benign or malignant hepatic tumors. In these cases excisional biopsy and histopathologic examination are necessary to determine a definite diagnosis. (orig.)

  19. Focal nodular hyperplasia: imaging findings

    International Nuclear Information System (INIS)

    Kehagias, D.; Moulopoulos, L.; Antoniou, A.; Hatziioannou, A.; Smyrniotis, V.; Trakadas, S.; Lahanis, S.; Vlahos, L.

    2001-01-01

    Focal nodular hyperplasia is an uncommon benign hepatic tumor that continues to pose diagnostic dilemmas. Imaging techniques are of great value in diagnosis of this tumor. In this article we present the US, CT, MR imaging, scintigraphy, and angiography findings. The demonstration of a central vascular scar is very helpful. Although the radiologic features may be diagnostic, many atypical cases must be differentiated from other benign or malignant hepatic tumors. In these cases excisional biopsy and histopathologic examination are necessary to determine a definite diagnosis. (orig.)

  20. Differential diagnosis in the sonographic evaluation of adrenal metastases

    Energy Technology Data Exchange (ETDEWEB)

    Ferrari, F; Fagioli Zucchi, A; Saloni, E; Terrosi Vagnoli, P [Siena Univ. (Italy). Ist. di Scienze Eidologiche e Radiologiche; Disanto, A [Siena Univ. (Italy). Ist. di Anatomia Patologica

    1989-01-01

    The sonographic detection of adrenal masses in patients with neoplasms, especially neoplasms of the lung, can be related to the presence of both metastases and adenomas. In order to assess the benign/malignant nature of the such lesions, the adrenal glands of 43 patients with neoplasms (36 of them lung cancers) were studied with sonography (US) and fine needle aspiration biopsy (FNAB): in all, 58 masses were seen (28 monolateral and 15 bilateral). Six lesions (13%) presented with cytological features of benignancy, and on US they appeared as hypoechoic (as compared to the liver), round masses, with regular margins, ranging in size from 1.2 cm to 3.4 cm (average: 2.6 cm). In the remaining 34 patients (80%), cellular material with features of malignancy was obtained with FNAB. The US appearence of these metastases was heterogenous, with the same echogenicity as the liver, and average size >3 cm. On the basis of data obtained, the limit of 3 cm (if we consider the average dimension), corresponds to the threshold of benignancy, as well as the monolateral and hypoechoic appearence of the lesion. To sum up, the use of FNAB should be limited to those lesions which present with typical adenomatous features and for borderline lesions, while the diagnosis of metastases is sufficiently accurate (p<0.001) in case of bilateral or isoechoic lesions >3 cm.

  1. Adrenal Vein Sampling for Conn's Syndrome: Diagnosis and Clinical Outcomes.

    Science.gov (United States)

    Deipolyi, Amy R; Bailin, Alexander; Wicky, Stephan; Alansari, Shehab; Oklu, Rahmi

    2015-06-19

    Adrenal vein sampling (AVS) is the gold standard test to determine unilateral causes of primary aldosteronism (PA). We have retrospectively characterized our experience with AVS including concordance of AVS results and imaging, and describe the approach for the PA patient in whom bilateral AVS is unsuccessful. We reviewed the medical records of 85 patients with PA and compared patients who were treated medically and surgically on pre-procedure presentation and post-treatment outcomes, and evaluated how technically unsuccessful AVS results were used in further patient management. Out of the 92 AVS performed in 85 patients, AVS was technically successful bilaterally in 58 (63%) of cases. Either unsuccessful AVS prompted a repeat AVS, or results from the contralateral side and from CT imaging were used to guide further therapy. Patients who were managed surgically with adrenalectomy had higher initial blood pressure and lower potassium levels compared with patients who were managed medically. Adrenalectomy results in significantly decreased blood pressure and normalization of potassium levels. AVS can identify surgically curable causes of PA, but can be technically challenging. When one adrenal vein fails to be cannulated, results from the contralateral vein can be useful in conjunction with imaging and clinical findings to suggest further management.

  2. Anatomy of melancholia: focus on hypothalamic-pituitary-adrenal axis overactivity and the role of vasopressin.

    LENUS (Irish Health Repository)

    Dinan, Timothy G

    2012-02-03

    Overactivity of the hypothalamic-pituitary-adrenal (HPA) axis characterized by hypercortisolism, adrenal hyperplasia and abnormalities in negative feedback is the most consistently described biological abnormality in melancholic depression. Corticotropin-releasing hormone (CRH) and arginine vasopressin (AVP) are the main secretagogues of the HPA\\/stress system. Produced in the parvicellular division of the hypothalamic paraventricular nucleus the release of these peptides is influenced by inputs from monoaminergic neurones. In depression, anterior pituitary CRH1 receptors are down-regulated and response to CRH infusion is blunted. By contrast, vasopressin V3 receptors on the anterior pituitary show enhanced response to AVP stimulation and this enhancement plays a key role in maintaining HPA overactivity.

  3. Proteus syndrome: association with gingival hyperplasia.

    Science.gov (United States)

    Arendorf, T M; Hanslo, B

    1995-09-01

    A 9-year old Black boy with gigantism of the hands and feet, and recurrent gingival hyperplasia, diagnosed as Proteus syndrome is presented. The oral manifestations of this syndrome are described. To the best of our knowledge, this is the first reported case of gingival hyperplasia associated with Proteus syndrome.

  4. Neuronal hyperplasia in the anal canal

    DEFF Research Database (Denmark)

    Fenger, C; Schrøder, H D

    1990-01-01

    In a consecutive series of minor surgical specimens from the anal canal, neuronal hyperplasia was found in nine of 56 haemorrhoidectomy specimens and in four of 23 fibrous polyps. In an additional series of 14 resections of the anal canal, neuronal hyperplasia was present in six cases, of which f...

  5. Luteinizing hormone (LH)-responsive Cushing's syndrome: the demonstration of LH receptor messenger ribonucleic acid in hyperplastic adrenal cells, which respond to chorionic gonadotropin and serotonin agonists in vitro

    NARCIS (Netherlands)

    R.A. Feelders (Richard); W.W. de Herder (Wouter); S.W.J. Lamberts (Steven); L.J. Hofland (Leo); P.M. van Koetsveld (Peter); M. Verhoef-Post (Miriam); A.P.N. Themmen (Axel); F.H. de Jong (Frank); H.J. Bonjer (Jaap); A.J. Clark (Adrian); A-J. van der Lely (Aart-Jan)

    2003-01-01

    textabstractIn a substantial part of adrenal adenomas and hyperplasias from patients with Cushing's syndrome, cortisol production is controlled by the expression of aberrant hormone receptors on adrenocortical cells. We present in vivo and in vitro data of two patients with a

  6. BILATERAL HYDRONEPHROSIS IN A SUGAR GLIDER (PETAURUS BREVICEPS).

    Science.gov (United States)

    Cusack, Lara; Schnellbacher, Rodney; Howerth, Elizabeth W; Jiménez, David A; Mayer, Joerg; Divers, Stephen

    2016-09-01

    An adult, intact male sugar glider ( Petaurus breviceps ) presented for acute caudal abdominal swelling. Treatment by the referring veterinarian included aspiration of urine from the swelling. On physical examination, mild depression, pale mucus membranes, and caudal abdominal swelling were noted. Focused ultrasonographic assessment revealed a fluid-filled caudal abdominal structure and subjective bladder wall thickening. The following day, the sugar glider was severely depressed. Hematology results included hypoglycemia, hyperkalemia, hyponatremia, and azotemia. Ultrasonography revealed bilateral hydronephrosis and hydroureter. Despite supportive care, the animal died. Postmortem examination confirmed bilateral ureteral dilation, renal petechial hemorrhage, and dilation of the right renal pelvis. Submucosal edema, hemorrhage, and lymphoplasmacytic infiltration of the urinary bladder, ureters, and renal pelvises were noted. Hyperplasia of the urinary bladder and ureteral epithelium, coupled with inflammation, may have caused functional obstruction leading to bilateral hydronephrosis and hydroureter. This is the first reported case of hydronephrosis in a marsupial.

  7. Asymptomatic myelolipoma of the adrenal.

    Science.gov (United States)

    Hadjigeorgi, C; Lafoyianni, S; Pontikis, Y; Van Vliet-Constantinidou, C

    1992-01-01

    Myelolipoma of the adrenal gland is a rare benign tumour which seldom produces symptoms unless it attains considerable size or hemorrhages into itself. Histologically the tumor is composed of varying proportions of fat and bone marrow elements. We present a case of a male child, with homozygous beta thalassemia and asymptomatic myelolipoma.

  8. Blood sampling from adrenal gland vein

    International Nuclear Information System (INIS)

    Sun Yong; Ni Caifang

    2009-01-01

    Adrenal gland vein sampling is an interventional method to get the blood samples from the adrenal gland vein. The blood is obtained via a catheter which is selectively inserted in the adrenal gland vein. This technique is mainly used to be diagnostic for primary hyperaldosteronism. A full knowledge of the anatomy and variations of the adrenal gland vein, serious preoperative preparation and skilled catheterization manipulation are necessary for obtaining sufficient blood sample and for reducing the occurrence of complications. Providing the physicians with definite diagnostic evidence and being technically feasible, adrenal gland vein sampling should become one of the routine examinations for clarifying the cause of primary hyperaldosteronism. (authors)

  9. Comparison of 99mTc-MDP SPECT qualitative vs quantitative results in patients with suspected condylar hyperplasia.

    Science.gov (United States)

    López Buitrago, D F; Ruiz Botero, J; Corral, C M; Carmona, A R; Sabogal, A

    To compare qualitative vs quantitative results of Single Photon Emission Computerised Tomography (SPECT), calculated from percentage of 99m Tc-MDP (methylene diphosphonate) uptake, in condyles of patients with a presumptive clinical diagnosis of condylar hyperplasia. A retrospective, descriptive study was conducted on the 99m Tc-MDP SPECT bone scintigraphy reports from 51 patients, with clinical impression of facial asymmetry related to condylar hyperplasia referred by their specialist in orthodontics or maxillofacial surgery, to a nuclear medicine department in order to take this type of test. Quantitative data from 99m Tc-MDP condylar uptake of each were obtained and compared with qualitative image interpretation reported by a nuclear medicine expert. The concordances between the 51 qualitative and quantitative reports results was established. The total sample included 32 women (63%) and 19 men (37%). The patient age range was 13-45 years (21±8 years). According to qualitative reports, 19 patients were positive for right side condylar hyperplasia, 12 for left side condylar hyperplasia, with 8 bilateral, and 12 negative. The quantitative reports diagnosed 16 positives for right side condylar hyperplasia, 10 for left side condylar hyperplasia, and 25 negatives. Nuclear medicine images are an important diagnostic tool, but the qualitative interpretation of the images is not as reliable as the quantitative calculation. The agreement between the two types of report is low (39.2%, Kappa=0.13; P>.2). The main limitation of quantitative reports is that they do not register bilateral condylar hyperplasia cases. Copyright © 2017 Elsevier España, S.L.U. y SEMNIM. All rights reserved.

  10. Mineralocorticoid hypertension: clinical and laboratory studies with special reference to selective percutaneous venography combined with aldosterone assay in the adrenal venous blood

    International Nuclear Information System (INIS)

    Wajchenberg, B.L.; Liberman, B.; Novaes, M.

    1977-01-01

    With the purpose of demonstrating the presence of hypertension, hypokalemia and alkalosis were studied. The presence of daily aldosteronism was verified in five patients; the sixth one presented no daily aldosteronism but an increase of 18-OH-DOCA production, an ACTH dependente mineralocorticoid. The presence of tumor (less than 0.9cm) could not be shown in two patients by bilateral selective adrenal venography. The aldosterone assay during catherization of adrenal vein of those patients permitted to determine the tumoral side. Attention must be given to the fact that the blood collection of adrenal vein must always be made during adrenal venography to demonstrate the presence of short unilateral tumor or bilateral disease [pt

  11. Bilateral herpes zoster

    Directory of Open Access Journals (Sweden)

    Singh K

    1993-01-01

    Full Text Available A case of bilateral herpes zoster of lumbosacral region is reported in association with diabetes mellitus in a 55 years old female. The case is of interest due to bilateral distribution which is rare and sacral region involvement which is quite uncommon.

  12. Bilateral herpes zoster

    OpenAIRE

    Singh K; Bajaj A; Dwivedi N; Merchery A

    1993-01-01

    A case of bilateral herpes zoster of lumbosacral region is reported in association with diabetes mellitus in a 55 years old female. The case is of interest due to bilateral distribution which is rare and sacral region involvement which is quite uncommon.

  13. Adrenal ganglioneuroma in a patient with polycystic ovarian disease (PCOD): a rare association.

    Science.gov (United States)

    Kumar, Arvind; Singh, Vishwajeet; Sankhwar, Satyanarayan; Babu, Suresh

    2013-10-21

    Adrenal ganglioneuromas are rare, benign incidentalomas of a neural crest origin. A majority of these tumours are clinically silent and discovered on imaging for unrelated reasons. Polycystic ovarian disease (PCOD) is an endocrine disorder characterised by bilateral polycystic ovaries, anovulation leading to infertility, irregular menstrual cycles and features of androgen hormone excess. Herein we report a rare case of adrenal ganglioneuroma in a 14-year-old girl with PCOD. She was referred to us by the gynaecologist after incidental detection of adrenal mass on ultrasonography. Except for raised 24 h urinary metanephrines, rest of the hormones measured were in normal range. Transperitoneal adrenalectomy was performed and histopathology was suggestive of ganglioneuroma. Postoperative recovery was excellent and she is doing well. To our knowledge it is the first such type of case to be reported.

  14. A Rare Case of Diffuse Idiopathic Pulmonary Neuroendocrine Cell Hyperplasia

    Directory of Open Access Journals (Sweden)

    Godwin Ofikwu

    2015-01-01

    Full Text Available Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia (DIPNECH is a rare clinical condition with only about 100 cases reported in the literature. It is characterized by primary hyperplasia of pulmonary neuroendocrine cells (PNECs which are specialized epithelial cells located throughout the entire respiratory tract, from the trachea to the terminal airways. DIPNECH appears in various forms that include diffuse proliferation of scattered neuroendocrine cells, small nodules, or a linear proliferation. It is usually seen in middle-aged, nonsmoking women with symptoms of cough, dyspnea, and wheezing. We present a 45-year-old, nonsmoking woman who presented with symptoms of DIPNECH associated with bilateral pulmonary nodules and left hilar adenopathy. Of interest, DIPNECH in our patient was associated with metastatic pulmonary carcinoids, papillary carcinoma of the left breast, oncocytoma and angiomyolipoma of her left kidney, and cortical nodules suggestive of tuberous sclerosis. She had video assisted thoracoscopic surgery (VATS, modified radical mastectomy with reconstruction, and radical nephrectomy. She is currently symptom-free most of the time with over two years of follow-up.

  15. Clinical and laboratory evaluation of adrenal dysfunction

    International Nuclear Information System (INIS)

    Ashkar, F.S.; Fishman, L.M.

    1983-01-01

    Because of their special physical and chemical properties, the adrenal secretory products were among the first hormonal substances to be measured by methods other than bioassay. Over the past several years, the development of sensitive and specific methods of hormone assay dependent on the use of radionuclides has revolutionized investigative and clinical endocrinology. While the capacity of defining most abnormalities of adrenal function antedates hormone measurement and adrenal imaging utilizing radioisotopes, the availability of such methods has greatly facilitated and made more precise the diagnostic approach to patients with suspected adrenal dysfunction. As an example of how clinical and laboratory considerations can be integrated into a rational approach to the diagnosis of adrenal disease, the problem of suspected adrenal hyperfunction is analyzed in light of current understanding of its pathophysiology. Reflection demonstrates that suspected primary aldosteronism and adrenal insufficiency are equally amenable to such an approach

  16. High grade primary adrenal intravascular large B-cell lymphoma manifesting as Addison disease Linfoma intravascular de alto grado de células B grandes y origen suprarrenal que se manifiesta en forma de enfermedad de Addison

    OpenAIRE

    J. Venizelos; D. Tamiolakis; M. Lambropoulou; G. Alexiadis; G. Petrakis; N. Papadopoulos

    2007-01-01

    We report a rare case of a 68 aged male who presented with adrenal failure and was diagnosed of high grade large B-cell lymphoma primarily arising in the adrenal glands. The patient was administrated with additional chemotherapy but he passed away 7 months later due to infection in the lungs. Intravascular lymphoma should be suspected in patients with bilateral adrenal masses who present with rapidly progressive adrenal insufficiency.Publicamos el caso poco frecuente de un varón de 68 años de...

  17. Adrenal neoplasms: Effectiveness and safety of CT-guided ablation of 23 tumors in 22 patients

    Energy Technology Data Exchange (ETDEWEB)

    Wolf, Farrah J.; Dupuy, Damian E.; Machan, Jason T. [Department of Diagnostic Imaging and the Office of Research Administration, Alpert Medical School of Brown University, Rhode Island Hospital, 593 Eddy Street, Providence, RI 02903 (United States); Mayo-Smith, William W., E-mail: wmayo-smith@lifespan.org [Department of Diagnostic Imaging and the Office of Research Administration, Alpert Medical School of Brown University, Rhode Island Hospital, 593 Eddy Street, Providence, RI 02903 (United States)

    2012-08-15

    Purpose: To retrospectively evaluate the effectiveness and safety of image-guided ablation of adrenal tumors. Materials and methods: : This HIPAA-compliant study was IRB approved and informed consent was waived. From 5/1999-6/2008, 20 consecutive adrenal metastases (mean diameter 4.2 cm; range, 2-8) and 3 hormonally active primary adrenal tumors (mean diameter 2.3 cm; range, 1-4), including an aldosteronoma and 2 pheochromocytomas in 22 patients (14 men, 8 women; mean age 61 years; range 40-84) were ablated in 23 sessions. Bilateral metastases were treated in a single patient. Radiofrequency ablation was used to treat 16 adrenal metastases and the 3 hyperfunctioning tumors. Microwave ablation was used to treat 4 metastases. Successful treatment was defined as a lack of both enhancement on follow-up contrast enhanced CT and/or up-take on FDG PET-CT and for functioning tumors, resolution of biochemical abnormalities. Results: Technical success was achieved in all sessions. Mean follow-up was 45.1 months (range, 1-91) Local tumor progression (focal enhancement at ablation site {>=}1 cm in short axis) was detected in 4 of 23 tumors, two of which were identified bilaterally in a single patient prompting re-treatment. Of 19 patients with metastatic disease, 16 had fatal extra-adrenal disease progression, and 3 remain alive. Two of the 3 patients who underwent ablation of hyperfunctioning tumors remain alive, including the patient with an aldosteronoma who had recurrent symptoms 91 months post ablation. Intra-ablative hypertension occurred in 9% (2/23) of sessions and was successfully treated pharmacologically. Conclusion: Ablation of metastatic and hyperfunctioning adrenal tumors is safe and may provide local control and treatment of pathologic biochemical activity.

  18. Adrenal neoplasms: Effectiveness and safety of CT-guided ablation of 23 tumors in 22 patients

    International Nuclear Information System (INIS)

    Wolf, Farrah J.; Dupuy, Damian E.; Machan, Jason T.; Mayo-Smith, William W.

    2012-01-01

    Purpose: To retrospectively evaluate the effectiveness and safety of image-guided ablation of adrenal tumors. Materials and methods: : This HIPAA-compliant study was IRB approved and informed consent was waived. From 5/1999-6/2008, 20 consecutive adrenal metastases (mean diameter 4.2 cm; range, 2–8) and 3 hormonally active primary adrenal tumors (mean diameter 2.3 cm; range, 1–4), including an aldosteronoma and 2 pheochromocytomas in 22 patients (14 men, 8 women; mean age 61 years; range 40–84) were ablated in 23 sessions. Bilateral metastases were treated in a single patient. Radiofrequency ablation was used to treat 16 adrenal metastases and the 3 hyperfunctioning tumors. Microwave ablation was used to treat 4 metastases. Successful treatment was defined as a lack of both enhancement on follow-up contrast enhanced CT and/or up-take on FDG PET-CT and for functioning tumors, resolution of biochemical abnormalities. Results: Technical success was achieved in all sessions. Mean follow-up was 45.1 months (range, 1–91) Local tumor progression (focal enhancement at ablation site ≥1 cm in short axis) was detected in 4 of 23 tumors, two of which were identified bilaterally in a single patient prompting re-treatment. Of 19 patients with metastatic disease, 16 had fatal extra-adrenal disease progression, and 3 remain alive. Two of the 3 patients who underwent ablation of hyperfunctioning tumors remain alive, including the patient with an aldosteronoma who had recurrent symptoms 91 months post ablation. Intra-ablative hypertension occurred in 9% (2/23) of sessions and was successfully treated pharmacologically. Conclusion: Ablation of metastatic and hyperfunctioning adrenal tumors is safe and may provide local control and treatment of pathologic biochemical activity.

  19. [Bilateral cochlear implants].

    Science.gov (United States)

    Müller, J

    2017-07-01

    Cochlear implants (CI) are standard for the hearing rehabilitation of severe to profound deafness. Nowadays, if bilaterally indicated, bilateral implantation is usually recommended (in accordance with German guidelines). Bilateral implantation enables better speech discrimination in quiet and in noise, and restores directional and spatial hearing. Children with bilateral CI are able to undergo hearing-based hearing and speech development. Within the scope of their individual possibilities, bilaterally implanted children develop faster than children with unilateral CI and attain, e.g., a larger vocabulary within a certain time interval. Only bilateral implantation allows "binaural hearing," with all the benefits that people with normal hearing profit from, namely: better speech discrimination in quiet and in noise, as well as directional and spatial hearing. Naturally, the developments take time. Binaural CI users benefit from the same effects as normal hearing persons: head shadow effect, squelch effect, and summation and redundancy effects. Sequential CI fitting is not necessarily disadvantageous-both simultaneously and sequentially fitted patients benefit in a similar way. For children, earliest possible fitting and shortest possible interval between the two surgeries seems to positively influence the outcome if bilateral CI are indicated.

  20. A prenatally detected adrenal cyst treated by adrenal-sparing ...

    African Journals Online (AJOL)

    Ahmet Dursun and Munevver Ho ¸sgo¨ r. A neonatal case of left adrenal cyst detected in utero and ... Correspondence to Munevver Ho ¸sgör, MD, PhD, Department II of Pediatric. Surgery, Dr Behcet Uz Children's Hospital, Koruturk Mh. ..... Radiology 1986; 161:631–633. 13 Erbil Y, Salmasliog˘lu A, Barbaros U, Bozbora A, ...

  1. Pregnancy following bilateral salpingectomy

    DEFF Research Database (Denmark)

    Oturai, Annette Bang

    2008-01-01

    This report presents a rare case of spontaneous pregnancy following bilateral salpingectomy. A woman with a history of bilateral salpingectomy was admitted to hospital because of abdominal pain and positive urine HCG. Surprisingly, ultrasound confirmed a live intrauterine fetus. The pregnancy...... was unwanted, and the woman decided to terminate the pregnancy. She was offered diagnostic examination to localise a potential fistula, but she declined. In a MEDLINE search of English literature this is only the second case of spontaneous pregnancy following bilateral salpingectomy Udgivelsesdato: 2008/4/21...

  2. Addison's disease due to adrenal tuberculosis: Contrast-enhanced CT features and clinical duration correlation

    International Nuclear Information System (INIS)

    Guo Yingkun; Yang Zhigang; Li Yuan; Ma Ensen; Deng Yuping; Min Pengqiu; Yin Longlin; Hu Jian; Zhang Xiaochun; Chen Tianwu

    2007-01-01

    Purpose: To describe CT morphology of untreated adrenal tuberculosis during the different stages of the natural history of the disease and to evaluate the diagnostic implications of CT features. Materials and methods: We retrospectively evaluated CT features in 42 patients with documented adrenal tuberculosis for the location, size, morphology, and enhancement patterns shown on CT images. The clinical duration were correlated with the CT features. Results: Of the 42 patients with untreated adrenal tuberculosis, bilaterally enlarged adrenal glands were revealed in 38 cases (91%), unilaterally enlarged in 3 cases (7%), and normal size in 1 case (2%). Of the 41 cases (98%) with enlargement, mass-like enlargement was seen in 20 cases (49%) and enlargement with preserved contours in 21 cases (51%). Peripheral rim enhancement presented in 22 cases (52%) on contrast-enhanced CT. Non-enhanced CT scan revealed calcification in 21 cases (50%). As the duration of Addison's disease increased, the presence of calcification and contour preservation increased concomitantly (p < 0.001), whereas peripheral rim enhancement and mass-like enlargement decreased concomitantly on CT images (p < 0.001). Conclusion: CT may be helpful in diagnosing adrenal tuberculosis when clinically suspected, and CT features are correlated to the clinical duration of Addison's disease

  3. Right adrenal vein: comparison between adaptive statistical iterative reconstruction and model-based iterative reconstruction.

    Science.gov (United States)

    Noda, Y; Goshima, S; Nagata, S; Miyoshi, T; Kawada, H; Kawai, N; Tanahashi, Y; Matsuo, M

    2018-06-01

    To compare right adrenal vein (RAV) visualisation and contrast enhancement degree on adrenal venous phase images reconstructed using adaptive statistical iterative reconstruction (ASiR) and model-based iterative reconstruction (MBIR) techniques. This prospective study was approved by the institutional review board, and written informed consent was waived. Fifty-seven consecutive patients who underwent adrenal venous phase imaging were enrolled. The same raw data were reconstructed using ASiR 40% and MBIR. The expert and beginner independently reviewed computed tomography (CT) images. RAV visualisation rates, background noise, and CT attenuation of the RAV, right adrenal gland, inferior vena cava (IVC), hepatic vein, and bilateral renal veins were compared between the two reconstruction techniques. RAV visualisation rates were higher with MBIR than with ASiR (95% versus 88%, p=0.13 in expert and 93% versus 75%, p=0.002 in beginner, respectively). RAV visualisation confidence ratings with MBIR were significantly greater than with ASiR (pASiR (pASiR (p=0.0013 and 0.02). Reconstruction of adrenal venous phase images using MBIR significantly reduces background noise, leading to an improvement in the RAV visualisation compared with ASiR. Copyright © 2018 The Royal College of Radiologists. Published by Elsevier Ltd. All rights reserved.

  4. Differentiation between tuberculosis and primary tumors in the adrenal gland: evaluation with contrast-enhanced CT

    International Nuclear Information System (INIS)

    Yang, Zhi-Gang; Guo, Ying-Kun; Li, Yuan; Min, Peng-Qiu; Yu, Jian-Qun; Ma, En-Sen

    2006-01-01

    The aim of the present study is to determine imaging criteria for differentiating tuberculosis from primary tumors in the adrenal gland on contrast-enhanced CT. Non-contrast and contrast-enhanced CT features in 108 patients with adrenal tuberculosis (n=34) and primary tumor (n=74) were retrospectively assessed for the location, size, calcification and enhancement patterns. The primary tumors included 41 adenomas, 11 pheochromocytomas, 4 carcinomas, 3 lymphomas, 6 myelolipomas, 6 ganglioneuromas, 2 neurilemmomas and 1 ganglioneuroblastoma. Biochemical investigation was performed for all patients. Of the tuberculosis cases, 31 (91%) invaded with bilateral involvement, while 7 (9%) of the primary tumors invaded with bilateral involvement (P<0.001). Tuberculosis often showed calcification (20 of 34; 59%), whereas primary tumors infrequently showed calcification (6 of 74; 8%; P<0.001). Low attenuation in the center with peripheral rim enhancement was more commonly seen in tuberculosis (16 of 34; 47%) than in primary tumors (7 of 74; 9%; P<0.001). In the determination of tuberculosis, the highest sensitivity (91%) and accuracy (91%) were obtained with bilateral involvement, and the highest specificity (99%) was obtained with the contour preserved. In the determination of primary tumors using a combination of having unilateral involvement and being mass-like, the outcome was a sensitivity of 91%, specificity of 94% and accuracy of 92%. CT findings can differentiate tuberculosis from a primary tumor of the adrenal glands with high sensitivity and an acceptable specificity when combined with the endocrinological examination. (orig.)

  5. Functional paraganglioma extra-adrenal

    International Nuclear Information System (INIS)

    Arroyo-Martinez, Laura; Alvarez-Pertuz, Humberto; Acuna-Calvo, Jorge; Montoya-Calles, Juan Diego

    2006-01-01

    Functioning paragangliomas are rare tumours that produce catecholamines.They originate from extra-adrenal chromaffin cells. They are frequently malignant and are associated with high incidence of persistent or recurrent disease after their primary treatment. They are known as glomus, chemodectomas, chromaffin paragangliomas and glomerulocytomas. The location is diverse and reflects the paragangliomar distribution in the body from the base of the skull to the pelvic floor. The paragangliomas are found where there are nodes of the autonomous system, however, approximately 90% of these tumours appear in the adrenal glands (and they constitute the pheochromocytomas) and the remaining 10% is a location extra adrenal, but it has been said that its impact can be underestimated, ranging from 18% to 22% in adults and children up to 30%. The extra-adrenal are originated more frequently in the abdomen (85%), other in the chest (12%) and more rarely in the head and neck (3%). Imaging studies and measurement of non-physiological production of catecholamines may aid in the diagnosis of this entity. Surgery is the treatment of choice. It is presented the case of a primigravidas patient aged 32 with HTAIE requiring caesarean section, who had a postpartum torpid and despite to multiple antihypertensive treatments their pathology was difficult to deal, with ophthalmic complications. Some time later, the patient is studied by hyperhidrosis, laboratory tests and images are requested and it is documented incidentally, a left retroperitoneal tumour, the studies are expanded and reach the correct diagnosis. The tumour required surgical resection. The patient had a satisfactory postoperative period and she discharged with control in the external consultation. (author) [es

  6. Schwannoma of the adrenal gland

    Directory of Open Access Journals (Sweden)

    Anunayi Jeshtadi

    2014-07-01

    Full Text Available Visceral schwannomas are extremely rare and are usually discov-ered incidentally on USG/CT-Scan. Primary schwannomas of the adrenal gland are extremely uncommon. It has been theorized that they originate from Schwann cells that insulate the nerve fi-bers innervating the adrenal medulla. Histopathological examina-tion coupled with immunohistochemistry provides the definitive diagnosis. A 55 year old normotensive female presented with pain in the right loin since 5 months. Her renal parameters were normal. Contrast enhanced computed tomography of abdomen showed a well delineated 6.5 x 5cms mass at upper pole of her right kidney. 24-hour urinary metanephrine was slightly elevated (3.07mg/24hrs. A decline in Serum cortisol levels was observed following a dexamethasone suppression test (18.89nmol/l. Histopathological examination revealed a spindle cell tumor. Immunohistochemistry showed strong and diffuse positive staining for S-100 with negative expression for CD-117, desmin, CD-34, HMB-45, synaptophysin, chromogranin, cytokeratin, and SMA. Ki-67 index was 2%.A diagnosis of cellular schwannoma of adrenal gland was confirmed.

  7. Novel somatic mutations in the catalytic subunit of the protein kinase A as a cause of adrenal Cushing's syndrome: a European multicentric study.

    Science.gov (United States)

    Di Dalmazi, Guido; Kisker, Caroline; Calebiro, Davide; Mannelli, Massimo; Canu, Letizia; Arnaldi, Giorgio; Quinkler, Marcus; Rayes, Nada; Tabarin, Antoine; Laure Jullié, Marie; Mantero, Franco; Rubin, Beatrice; Waldmann, Jens; Bartsch, Detlef K; Pasquali, Renato; Lohse, Martin; Allolio, Bruno; Fassnacht, Martin; Beuschlein, Felix; Reincke, Martin

    2014-10-01

    Somatic mutations in PRKACA gene, encoding the catalytic subunit of protein kinase A (PKA), have been recently found in a high proportion of sporadic adenomas associated with Cushing's syndrome. The aim was to analyze the PRKACA mutation in a large cohort of patients with adrenocortical masses. Samples from nine European centers were included (Germany, n = 4; Italy, n = 4; France, n = 1). Samples were drawn from 149 patients with nonsecreting adenomas (n = 32 + 2 peritumoral), subclinical hypercortisolism (n = 36), Cushing's syndrome (n = 64 + 2 peritumoral), androgen-producing tumors (n = 4), adrenocortical carcinomas (n = 5 + 2 peritumoral), and primary bilateral macronodular adrenal hyperplasias (n = 8). Blood samples were available from patients with nonsecreting adenomas (n = 15), subclinical hypercortisolism (n = 10), and Cushing's syndrome (n = 35). Clinical and hormonal data were collected. DNA amplification by PCR of exons 6 and 7 of the PRKACA gene and direct sequencing were performed. PRKACA heterozygous mutations were found in 22/64 samples of Cushing's syndrome patients (34%). No mutations were found in peritumoral tissue and blood samples or in other tumors examined. The c.617A>C (p.Leu206Arg) occurred in 18/22 patients. Furthermore, two novel mutations were identified: c.600_601insGTG/p.Cys200_Gly201insVal in three patients and c.639C>G+c.638_640insATTATCCTGAGG/p.Ser213Arg+p.Leu212_Lys214insIle-Ile-Leu-Arg) in one. All the mutations involved a region implicated in interaction between PKA regulatory and catalytic subunits. Patients with somatic PRKACA mutations showed higher levels of cortisol after dexamethasone test and a smaller adenoma size, compared with nonmutated subjects. These data confirm and extend previous observations that somatic PRKACA mutations are specific for adrenocortical adenomas causing Cushing's syndrome.

  8. Prognostic significance of atypical papillary urothelial hyperplasia.

    Science.gov (United States)

    Swierczynski, Sharon L; Epstein, Jonathan I

    2002-05-01

    Typical papillary hyperplasia, a recently recognized precursor lesion to low-grade papillary urothelial neoplasms, consists of undulating folds of cytologically benign urothelium. Well-developed, branching fibrovascular cores of a papillary neoplasm are not evident. We have noted lesions with the architectural pattern of papillary hyperplasia; however, the overlying urothelium demonstrated varying degrees of cytologic atypia. We identified 15 cases of atypical papillary hyperplasia (13 males, 2 females, age 55 to 92) with overlying urothelium showing cytologic atypia. Of these cases, 8 (53%) were received in consultation. Of the 15 cases, 8 exhibited overlying flat carcinoma in situ (CIS), 4 had overlying dysplasia, and 3 were transitional between papillary hyperplasia with atypia and the earliest lesions of papillary neoplasia. Of these cases, 5 patients had multiple specimens with atypical papillary hyperplasia (range, 2 to 8) over time. Concurrent to the diagnosis of atypical papillary hyperplasia, there were 25 different urothelial lesions: CIS (n = 11), papilloma (n = 1), papillary neoplasm of low malignant potential with CIS (n = 1), high-grade papillary urothelial carcinoma (n = 10; 3 with CIS), small-cell carcinoma (n = 1), and infiltrating urothelial carcinoma (n = 1). Of 11 patients with known prior history, 2 had 12 prior urothelial neoplasms (9 low-grade papillary neoplasms, 2 papillary urothelial neoplasms of low malignant potential, and 1 high-grade papillary cancer). Of 10 patients with atypical papillary hyperplasia and a minimum of 1 year of follow-up, 9 had 19 recurrences: CIS (n = 4), papilloma (n = 1), papillary neoplasm of low malignant potential (n = 1), infiltrating urothelial carcinoma (n = 3; 1 with CIS), and high-grade papillary urothelial carcinoma (n = 10; 5 with invasion and 2 with CIS). Whether the papillary hyperplasia had overlying CIS or dysplasia did not affect the correlation with urothelial neoplasms. Immunohistochemical analysis

  9. Fertility outcome in male and female patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency

    Directory of Open Access Journals (Sweden)

    Mahdi Kamoun

    2014-06-01

    Conclusion: Fertility in male and female patients with CAH is reduced. Early and adequate glucocorticoid therapy along with good compliance, careful monitoring of androgen levels and continuous psychological management could contribute to improved fertility rates in this population, even among those with the severe variant.

  10. Genetics Home Reference: congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency

    Science.gov (United States)

    ... Vilar D, Pombo M, Dominguez F, Williams EL, Cole TR, Kirk JM, Kaminsky E, Rumsby G, Arlt ... medicine? What is newborn screening? New Pages Lyme disease Fibromyalgia White-Sutton syndrome All New & Updated Pages ...

  11. Long-term outcome of genital reconstruction of Middle Eastern women with congenital adrenal hyperplasia

    Directory of Open Access Journals (Sweden)

    Raouf M Seyam

    2013-01-01

    Conclusions: CAH has a significant impact on adult women in our region. Most of the patients remain single. Few women get married and these are able to lead a nearly normal sexual life and give birth to healthy children.

  12. Androgens and cognitive abilities: Mental rotations skills and handedness in adult females with congenital adrenal hyperplasia

    DEFF Research Database (Denmark)

    Ripa, Caroline P.L.; Johannsen, T.H.; Mortensen, E.L.

    2006-01-01

    Research on animal and human populations has suggested elevated spatial abilities as well as higher incidence of left-handedness in genetic females exposed to abnormally high androgen levels perinatally. However, findings in humans are inconsistent. We administered the Mental Rotations Test...

  13. Long-Term Gynecological Outcomes in Women with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency

    DEFF Research Database (Denmark)

    Johannsen, T H; Ripa, Caroline P.L.; Carlsen, E

    2010-01-01

    Background. Our knowledge on long-term outcome in CAH remains incomplete. Methods. In a prospective study (33 CAH patients, 33 age-matched controls), reproductive outcomes, self-rating of genital appearance and function, and sexuality were correlated to degree of initial virilisation, genotype.......3-10.8] versus 2.8 [0.6-10.8], P = .09) than controls. Satisfaction with genital appearance was lower and negatively correlated to degree of initial virilisation (r(s) = ≤-0.39, P ≤ .05). More patients had never had intercourse (P = .001), and age at 1st intercourse was higher (18 yrs versus 16 yrs, P = .02...

  14. Behavioural Outcome in Children with Congenital Adrenal Hyperplasia: Experience of a Single Centre

    Directory of Open Access Journals (Sweden)

    Arini Nuran Idris

    2014-01-01

    Full Text Available The aim of this study was to determine the behavioral outcome in children with CAH and to identify the risk factors that may influence it. Participants (aged 6–18 years included 29 girls and 20 boys with CAH and unaffected siblings (25 girls and 17 boys. Psychological adjustment was assessed with parent reports on the Child Behavior Checklist (CBCL. Information about disease characteristics was obtained from medical records. Our study reveals that there was higher incidence of parent-reported problem of anxious/depressed and withdrawn/depressed behaviours, somatic complaints, social, thought, and attention problems, and rule-breaking, aggressive, internalizing, and externalizing behaviour among children with CAH compared to controls. The prevalence of internalizing behaviour problems was higher in CAH boys compared with that of controls. Psychosocial adjustment of girls with CAH was found to be similar to unaffected female controls and was within the normal population range. Family income may be associated with behavioral outcome. Glucocorticoid dose may reflect disease severity which may be associated with behavioral outcome. We conclude that internalizing behavioral problem was prevalent among boys with CAH reflecting maladaptive adjustment in coping with chronic illness. This highlighted the importance of psychological and social support for the patients and their families.

  15. Insuficiencia suprarrenal primaria por adrenalitis autoimnume

    OpenAIRE

    Muzzo B,Santiago; Izquierdo C,Gianina; Verbeke P,Sandra

    2002-01-01

    We report a 10 years old boy, admitted with a history of asthenia, anorexia and weight loss of 4 kg. Initial laboratory work up showed metabolic acidosis and hyponatremia. The patient had no circadian rhythm of serum cortisol and an adrenal stimulation test confirmed the presence of adrenal insufficiency. Anti-adrenal antibodies were positive. Treatment with cortisol and fluorocortisone resulted in a complete remission of symptoms (Rev Méd Chile 2002; 130: 901-6).

  16. Radiological diagnosis of the adrenal glands

    International Nuclear Information System (INIS)

    Engelbrecht, V.

    2005-01-01

    The adrenal gland is a common site of disease involving hormonal dysfunction as well as benign and malignant masses. Radiology, especially computed tomography (CT) and magnetic resonance (MR), plays a critical role in detecting and characterizing diseases affecting the adrenal gland. This paper contains a summary of the most important diseases of the adrenal gland and presents criteria for differentiating between benign and malignant masses as well as an algorithm for the diagnostic steps in incidentaloma. (orig.)

  17. Ultrasonographi assessment of congenital adrenal masses

    International Nuclear Information System (INIS)

    Muro Velilla, D.; Sanguesa, C.; Alberto, C.; Lopez, A., Benlloch, C.

    1996-01-01

    The demonstrate the utility of ultrasound (US) in the initial assessment and follow-up of newborns with adrenal masses. A series of 21 newborns presenting adrenal mass studied on the basis of US findings, clinical assessment and biochemical data. Seven patients had congenital neuroblastoma, two had a benign tumor and twelve presented adrenal hemorrhage. Postnatal US study of the course of these patients is essential for the differential diagnosis of their lesions when not diagnosed prenatally. (Author) 20 refs

  18. Is it useful to repeat an adrenal venous sampling in patients with primary hyperaldosteronism?

    Science.gov (United States)

    Bouhanick, B; Delchier, M-C; Fauvel, J; Rousseau, H; Amar, J; Chamontin, B

    2014-02-01

    Adrenal venous sampling (AVS) is a challenging technical procedure and few patients had AVS procedure twice. To evaluate the reproducibility of the AVS, why AVS were repeated and the conclusions drawn from them. From 1997-2012, 12 patients underwent two AVS. A cortisol level in the adrenal vein greater than or equal to 1.1 to inferior vena cava defined a successful catheterization and a lateralization of secretion corresponded to an aldosterone-to-cortisol vein ratio greater than or equal to 2 between the one side to another. The same side of lateralization of secretion was found in 75% of them. The second AVS were due to technical failure (n=4), unproven lateralization (n=2), a lateralization opposite to the main nodule and ipsilateral to hyperplasia (n=4) on first AVS. For two patients, as the CT was normal, AVS was required again. The second AVS was successful in all patients, including those with an initial technical failure but only patient with technical failure underwent surgery, as BP and kaliemia were controlled. Lateralization on the side of hyperplasia or opposite to the biggest nodule was confirmed in two of four cases. When AVS is unsuccessful for technical reasons, it is worth doing it again but after being sure that surgery is still possibly indicated. Copyright © 2013 Elsevier Masson SAS. All rights reserved.

  19. An Unusual Case of Adrenal Incidentaloma

    Directory of Open Access Journals (Sweden)

    Turker Tasliyurt

    2014-09-01

    Full Text Available Adrenal incidentalomas are masses accidentally discovered while conducting radiological examinations for other purposes. A major part of adrenal incidentalomas are non-functional adenomas. Silently developing Cushing's syndrome or pheochromocytoma can be observed in adrenal incidentalomas. However, coexistence of Cushing's syndrome and pheochromocytoma at the same time in the same case is quite rare. In the present study, an atypical adrenal incidentaloma case is presented, whose laboratory examinations were compatible with Subclinical Cushing's syndrome, urinary catecholamine metabolites were normal, but who histopathologically had pheochromocytoma diagnosis. [J Contemp Med 2014; 4(3.000: 160-163

  20. A prenatally detected adrenal cyst treated by adrenal-sparing surgery

    African Journals Online (AJOL)

    A neonatal case of left adrenal cyst detected in utero and successfully treated by adrenal-sparing surgery is presented and discussed with review of the literature. Incidentally discovered prenatal adrenal masses present a diagnostic dilemma. Benign and malignant conditions can present as a fetal suprarenal mass. There is ...

  1. Adrenal scan in 17-alpha-hydroxylase deficiency: false indication of adrenal adenoma

    International Nuclear Information System (INIS)

    Shore, R.M.; Lieberman, L.M.; Newman, T.J.; Friedman, A.; Bargman, G.J.

    1981-01-01

    A patient who was thought to have testicular feminization syndrome and primary aldosteronism had an adrenal scan that suggested an adrenal adenoma. After later diagnosis of 17-alpha-hydroxylase deficiency, she was treated with glucocorticoids rather than surgery. Her clinical course and a repeat adrenal scan confirmed she did not have a tumor

  2. Nocturia and benign prostatic hyperplasia

    Directory of Open Access Journals (Sweden)

    Laketić Darko

    2008-01-01

    Full Text Available Background/Aim. Nocturia often occurs in patients with benign prostate hyperplasia (BPH. The aim of the study was to investigate the frequency of nocturia in patients with BPH. Nocturia and other factors associated with it were also investigated. Methods. Forty patients with the confirmed diagnosis of BPH were studied. Transurethral and transvesical prostatectomy were performed in all the patients. Symptoms were evaluated with the International Prostate Symptom Score before, as well as three and six months after the surgery. All the results were compared with the control group. Results. There was no statistically significant difference between the patients before and after the surgery regarding nocturia. There was, however, a statistically significant difference between the operated patients and the control group regarding nocturia, as well as a statistically significant correlation between noctruia and the age of the patients in both the investigated and the control group. A correlation also existed between nocturia and the prostatic size. Conclusion. There was no statistically significant improvement in symptoms of nocturia after the surgery. It is necessary to be very careful in decision making in patients with nonabsolute indiction for surgery and isolated bothersome symptom of nocturia. Age of a patient should also be considered in the evaluation of favorable result of the surgery because of a significant correlation between noctura and the age of a patient.

  3. Kinetics of vein graft hyperplasia

    International Nuclear Information System (INIS)

    Zwolak, R.M.; Adams, M.C.; Clowes, A.W.

    1986-01-01

    Human aortocoronary vein grafts fail due to accelerated occlusive disease. The possibility that this is related to cellular hyperplasia was investigated in a rabbit model where kinetics of vein graft thickening, endothelial (EC) repair, and smooth muscle cell (SMC) proliferation were measured from 2 days to 24 weeks after implanting jugular vein segments in the carotid artery. Immediately after graft placement focal EC denudation was observed. These defects were repaired within 1 week and did not recur. By 4 weeks intimal area had increased 30 fold from 0.028 +/- 0.004 to 0.705 +/- 0.021 mm 2 , and a 24 weeks was 0.93 +/- 0.21 mm 2 . This response did not produce a reduction in graft lumen area. EC and SMC thymidine-labeling index were measured by en face and cross-section autoradiography after injection of 3 H-thymidine and perfusion fixation. Despite rapid EC surface repair EC labeling index remained elevated and only returned to normal levels at 12 weeks; SMC labeling was 10 fold greater than baseline even at 24 weeks (0.22% vs 0.02%). SMC mass demonstrated morphometrically increased between 2 and 12 weeks. Intimal thickening in vein grafts is due to SMC proliferation and develops after the EC layer has been restored. In contrast, intimal SMC proliferate in damaged arteries when the EC layer is absent and cease when the EC layer is regenerated

  4. Role of endoscopic ultrasound-guided fine-needle aspiration in adrenal lesions: analysis of 32 patients

    Directory of Open Access Journals (Sweden)

    Rakesh K Gupta

    2018-01-01

    Full Text Available Objective: Endoscopic ultrasound-guided fine-needle aspiration cytology (EUS-FNAC is a precise and safe technique that provides both radiological and pathological diagnosis with a better diagnostic yield and minimal adverse events. EUS-FNAC led to the remarkable increase in the detection rate of incidentaloma found during radiologic staging or follow-up in various malignancy or unrelated conditions. Aims: We did this preliminary study with an aim to evaluate the role of EUS-FNA in diagnosing and classifying adrenal lesions, clinical impact, and compare the outcome with the previously published literature. Materials and Methods: We included 32 consecutive cases (both retrospective and prospective of EUS-guided adrenal aspirate performed over a period of 3.3 years. The indications for the aspirate in decreasing order were metastasis (most common carcinoma gall bladder > primary adrenal mass > disseminated tuberculosis > pyrexia of unknown origin. On EUS, 28 cases revealed space occupying lesion or mass (two cases bilateral and four cases revealed diffuse enlargement (two cases bilateral with a mean size of 21 mm. Results: The cytology reports were benign adrenal aspirate (43.8%, metastatic adenocarcinoma (15.6%, histoplasmosis (9.4%, tuberculosis (9.4%, round cell tumor (6.2%, adrenocortical carcinoma (3.1%, and descriptive (3.1%. Three cases (9.4% yielded inadequate sample. The TNM staging was altered in 22.23% of the cases by result of adrenal aspirate. Conclusions: EUS-FNA of the adrenal gland is a safe, quick, and sensitive and real-time diagnostic technique, which requires an integrated approach of clinician, endoscopist, and cytopathologist for high precision in diagnosis. Although the role of EUS-FNA for right adrenal is not much described, we found adequate sample yield in all the four patients that underwent the procedure.

  5. Adrenal tuberculosis masquerading as disseminated malignancy: A pitfall of (18)F-FDG PET/CT Imaging.

    Science.gov (United States)

    Gorla, A K R; Gupta, K; Sood, A; Biswal, C K; Bhansali, A; Mittal, B R

    2016-01-01

    Non-invasive characterization of adrenal lesions is a commonly encountered diagnostic challenge. Characteristic clinical and correlative imaging findings may assist in only arriving at a probable diagnosis. Currently, (18)F-FDG PET/CT is considered to provide the most comprehensive imaging information. We here present a case of bilateral adrenal tuberculosis that highlights the need for caution during the interpretation of (18)F-FDG PET/CT and also the need to suggest histopathological correlation. Copyright © 2016 Elsevier España, S.L.U. and SEMNIM. All rights reserved.

  6. Adrenal Castleman's disease mimicking other adrenal neoplasms: A case report

    Energy Technology Data Exchange (ETDEWEB)

    Hong, Seung Baek; Lee, Nam Kyung; Kim, Suk; Han, Ga Jin; Ha, Hong Koo; Ku, Ja Yoon; Ahn, Sang Jeong; Lee, Chang Hun [Pusan National University Hospital, Pusan National University School of Medicine, Busan (Korea, Republic of)

    2017-01-15

    We present a rare case of adrenal Castleman's disease with hyaline vascular type mimicking other adrenal neoplasms in a 65-year-old woman. Although rare, the hyaline vascular type of adrenal Castleman's disease should be included in the differential diagnosis if an adrenal mass shows a well-defined, highly enhancing solid adrenal mass with peripheral rim enhancement, multiple satellite lymph nodes, and peritoneal thickening around the dominant mass on computed tomography as shown in this patient.

  7. Image characteristics of adrenal ganglioneuroma

    International Nuclear Information System (INIS)

    Ohishi, Yukihiko; Machida, Toyohei; Tashiro, Kazuya

    1994-01-01

    The image characteristics of adrenal ganglioneuroma observed in various types of imaging were examined. The subjects of the study were 6 cases of adrenal ganglioneuroma which had been histologically confirmed: the ages of the subjects ranged from 25 to 54 (mean age 41), and the maximum diameter of the tumors were 4 to 7 cm. The diagnostic methods employed in their detection were ultrasonography (US) and computed tomography (CT) in all 6 cases, magnetic resonance imaging (MRI) in 5 cases, and arteriography in 3 cases. On US and CT images, all 6 tumors had clear and smooth boundaries, and were homogeneous. They were hypoechoic on US images and low density on CT images. Of the 5 cases for which contrast CT images had been obtained, one showed a slightly heterogeneous staining. On MRI, the tumors were of lower intensity in comparison to the liver in 4 of 5 cases on the T 1 -weighted images, and the internal structure was homogeneous in 3 cases and heterogeneous in one case. The remaining one case was of isointensity and homogeneous. On the T 2 -weighted images, all 5 cases were of high intensity and heterogeneous. The blood flow distribution in the 3 tumors which were examined by Gd-DTPA dynamic MRI was low and of isointensity to the liver: 2 were heterogeneous and one was homogeneous. T 1 -enhanced images were obtained in 4 cases: 2 were of high intensity and heterogeneous, one was of isointensity and homogeneous, and one was of heterogeneously isointensity. Arteriography indicated that all 3 cases were hypovascular and no vascularization or ruptures were evident. It appeared that the imaging characteristics of adrenal ganglioneuroma were as follows: (1) homogeneous on US and CT images; (2) hypoechoic on US images, low density on CT images and little enhancement on contrast CT images; (3) of low intensity homogeneous on T 1 -weighted images and of high intensity heterogeneous on T 2 -weighted images and little blood flow distribution on dynamic MRI. (author)

  8. Staged bilateral carotid endarterectomy

    DEFF Research Database (Denmark)

    Schroeder, T; Sillesen, H; Engell, Hans Christian

    1986-01-01

    In a series of 56 staged bilateral carotid endarterectomies, new neurologic symptoms developed in 5% and 20% following the first and second procedure, respectively. All complications were transient or minor. The incidence of postendarterectomy hypertension was significantly higher following...... the second procedure, when operations were staged less than 3 weeks apart. A correlation between these hypertensive episodes and the occurrence of new neurologic symptoms could not be shown. However, as this correlation has been proved in several other reports, bilateral carotid endarterectomy is advised...... to be staged at least 3 weeks apart. In addition, a conservative attitude towards contralateral asymptomatic lesions is proposed....

  9. Adrenal-derived stress hormones modulate ozone-induced ...

    Science.gov (United States)

    Ozone-induced systemic effects are modulated through activation of the neuro-hormonal stress response pathway. Adrenal demedullation (DEMED)or bilateral total adrenalectomy (ADREX) inhibits systemic and pulmonary effect of acute ozone exposure. To understand the influence of adrenal-derived stress hormones in mediating ozone-induced lung injury/inflammation, we assessed global gene expression (mRNA sequencing) and selected proteins in lung tissues from male Wistar-Kyoto rats that underwent DEMED, ADREX, or sham surgery (SHAM)prior to their exposure to air or ozone (1 ppm),4 h/day for 1 or 2days. Ozone exposure significantly changed the expression of over 2300 genes in lungs of SHAM rats, and these changes were markedly reduced in DEMED and ADREX rats. SHAM surgery but not DEMED or ADREX resulted in activation of multiple ozone-responsive pathways, including glucocorticoid, acute phase response, NRF2, and Pl3K-AKT.Predicted targets from sequencing data showed a similarity between transcriptional changes induced by ozone and adrenergic and steroidal modulation of effects in SHAM but not ADREX rats. Ozone-induced Increases in lung 116 in SHAM rats coincided with neutrophilic Inflammation, but were diminished in DEMED and ADREX rats. Although ozone exposure in SHAM rats did not significantly alter mRNA expression of lfny and 11-4, the IL-4 protein and ratio of IL-4 to IFNy (IL-4/IFNy) proteins increased suggesting a tendency for a Th2 response. This did not occur

  10. Spontaneous adrenal pheochromocytoma rupture complicated by intraperitoneal hemorrhage and shock

    Directory of Open Access Journals (Sweden)

    Kwasnik Edward

    2011-08-01

    Full Text Available Abstract MEN2A is a hereditary syndrome characterized by medullary thyroid carcinoma, hyperparathyroidism, and pheochromocytoma. Classically patients with a pheochromocytoma initially present with the triad of paroxysmal headaches, palpitations, and diaphoresis accompanied by marked hypertension. However, although reported as a rare presentation, spontaneous hemorrhage within a pheochromocytoma can present as an abdominal catastrophe. Unrecognized, this transformation can rapidly result in death. We report the only documented case of a thirty eight year old gentleman with MEN2A who presented to a community hospital with hemorrhagic shock and peritonitis secondary to an unrecognized hemorrhagic pheochromocytoma. The clinical course is notable for an inability to localize the source of hemorrhage during an initial damage control laparotomy that stabilized the patient sufficiently to allow emergent transfer to our facility, re-exploration for continued hemorrhage and abdominal compartment syndrome, and ultimately angiographic embolization of the left adrenal artery for control of the bleeding. Following recovery from his critical illness and appropriate medical management for pheochromocytoma, he returned for interval bilateral adrenal gland resection, from which his recovery was unremarkable. Our review of the literature highlights the high mortality associated with the undertaking of an operative intervention in the face of an unrecognized functional pheochromocytoma. This reinforces the need for maintaining a high index of suspicion for pheochromocytoma in similar cases. Our case also demonstrates the need for a mutimodal treatment approach that will often be required in these cases.

  11. Differential diagnosis in the sonographic evaluation of adrenal metastases

    International Nuclear Information System (INIS)

    Ferrari, F.; Fagioli Zucchi, A.; Saloni, E.; Terrosi Vagnoli, P.; Disanto, A.

    1989-01-01

    The sonographic detection of adrenal masses in patients with neoplasms, especially neoplasms of the lung, can be related to the presence of both metastases and adenomas. In order to assess the benign/malignant nature of the such lesions, the adrenal glands of 43 patients with neoplasms (36 of them lung cancers) were studied with sonography (US) and fine needle aspiration biopsy (FNAB): in all, 58 masses were seen (28 monolateral and 15 bilateral). Six lesions (13%) presented with cytological features of benignancy, and on US they appeared as hypoechoic (as compared to the liver), round masses, with regular margins, ranging in size from 1.2 cm to 3.4 cm (average: 2.6 cm). In the remaining 34 patients (80%), cellular material with features of malignancy was obtained with FNAB. The US appearence of these metastases was heterogenous, with the same echogenicity as the liver, and average size >3 cm. On the basis of data obtained, the limit of 3 cm (if we consider the average dimension), corresponds to the threshold of benignancy, as well as the monolateral and hypoechoic appearence of the lesion. To sum up, the use of FNAB should be limited to those lesions which present with typical adenomatous features and for borderline lesions, while the diagnosis of metastases is sufficiently accurate (p 3 cm

  12. Rare primary retroperitoneal teratoma masquerading as adrenal ...

    African Journals Online (AJOL)

    J.M. Ratkal

    Abstract. Objectives: To present a rare case of Primary mature cystic teratoma of right adrenal gland in adult female with an aim to review the published literature. Materials and Methods: The case details of a lady presenting with vague upper abdominal pain and on investigation was found to have a right adrenal mass were ...

  13. Neonatal adrenal hemorrhage mimicking an acute scrotum.

    Science.gov (United States)

    Adorisio, O; Mattei, R; Ciardini, E; Centonze, N; Noccioli, B

    2007-02-01

    Twenty-two cases of scrotal hematoma caused by neonatal adrenal hemorrhage are reported in the literature and unnecessary surgical exploration was performed in nine (41%), suspecting testicular torsion. In this paper, we present a newborn male with right adrenal gland hemorrhage causing right scrotal swelling and discoloration of groin managed conservatively.

  14. Hypoadrenia following adrenal venography in Cushing's disease

    International Nuclear Information System (INIS)

    Goth, M.; Szilagy, G.; Irsy, G.; Szabolcs, I.; Berentey, E.; Molnar, F.; Magyar, E.

    1984-01-01

    Three patients with Cushing's disease are reported. In two patients the hyperfunction of the adrenal glands creased following selective adrenal venography, moreover hypoadrenia has developed. In the third case necrosis following venography was proved by surgery and confirmed by histology. Regarding the therapeutic possibilities of Cushing's diesease the use of this diagnostic procedure is taken into consideration but not recommended. (orig.)

  15. Study of awareness of adrenal disorders among interns and postgraduate students of Hamidia Hospital, Bhopal

    Directory of Open Access Journals (Sweden)

    Sachin Chittawar

    2017-01-01

    Full Text Available Introduction: Adrenal disorders could be a life-threatening emergency, hence requires immediate therapeutic management. For this awareness regarding its diagnosis, management, and treatment is prime important. Aims and Objective: To study the awareness of adrenal disorders among interns and postgraduates students of Hamidia Hospital, Bhopal. Materials and Methods: A cross-sectional questionnaire-based study was performed. Fifty-six participants, i.e., 1st, 2nd, and 3rd years postgraduate residents of general medicine (n = 14 × 3 and interns (n = 14 were included in the study. There were 12 questions on adrenal insufficiency, adrenal adenoma, congenital adrenal hyperplasia (CAH, nonclassical CAH (NCCAH, pheochromocytoma, and Conn's syndrome. One mark was awarded for each correct response. Results: In the present study, 14 (25% participants scored < 5 marks, 33 (58.9% scored between 6 and 9, and 9 (16.1% scored between 10 and 12. The mean score among the participants was 6.38 ± 2.505, with a range from 2 to 11 marks. The number of correct answers by postgraduates residents of 1st year was 101, 2nd year was 95, and 3rd year was 93 and interns scored 68 out of total 168 questions in each group. Mean awareness score for residents of 1st, 2nd, 3rd years participants and interns was 7.21 ± 2.806, 6.79 ± 2.119, and 6.64 ± 2.818 and 6.63 ± 2.505, respectively. Most of the participants recorded correct responses related to diagnosis (57.7% followed by responses related to treatment (64.3%. Answers to a question regarding how commonly is adrenal insufficiency diagnosed in medical Intensive Care Unit, none of the individuals responded correctly.Conclusion: There was a lack of awareness regarding diagnosis, management, and treatment of adrenal disorders in central India. We need to prioritize training related to these illnesses in our postgraduate teaching curriculum in practice.

  16. Meta-iodobenzylguanidine adrenal medulla localization

    International Nuclear Information System (INIS)

    Guilloteau, D.; Baulieu, J.L.; Chambon, C.; Valat, C.; Baulieu, F.; Itti, R.; Pourcelot, L.; Besnard, J.C.; Huguet, F.; Narcisse, G.; Viel, C.

    1984-01-01

    In order to investigate the mechanism of uptake of meta-iodobenzylguanidine (mIBG) by the adrenal glands, autoradiographic and pharmacologic studies were performed in mice and dogs receiving radioiodinated mIBG. In mice, on macroautoradiography of whole body section 48 h after 125 I-mIBG, most of the radioactivity was focused in the adrenal glands. On microautoradiography, silver grains were exclusively located in the adrenal medulla. Time counting after phenoxybenzamine, cocaine, and desipramine treatment resulted in 45%, 35%, and 0% inhibition of mIBG uptake, respectively. Tissue counting and scintigraphic studies demonstrated a more than 50% mIBG release from the adrenal glands. These data indicate the high affinity of mIBG for adrenal medulla and suggest that the mIBG and catecholamine uptake mechanisms are onlt partially the same. (orig.)

  17. [Neonatal adrenal hematoma: various modes of presentation].

    Science.gov (United States)

    Fadil, F-Z; Lehlimi, M; Chemsi, M; Habzi, A; Benomar, S

    2014-09-01

    Neonatal adrenal hematoma is a rare condition, most frequently caused by trauma. We report three cases of adrenal hematoma admitted to the Neonatology and Neonatal Intensive Care Unit in the A. Harouchi Children's Hospital, the Ibn Rushd University Hospital in Casablanca, Morocco, over a 2-year period from January 2011 to December 2012. The average age of these patients was 5 days. The clinical presentations were diverse; the most common manifestations were intense jaundice in one case, acute adrenal insufficiency in one case, and severe anemia in the other case. Abdominal ultrasonography was used to confirm the diagnosis and monitor adrenal hemorrhage in all the patients. Analysis of clinical, laboratory, and ultrasonography data showed a favorable prognosis in all the patients. Based on these observations, we discuss the risk factors, clinical presentations, progression and management of neonatal adrenal hemorrhage. Copyright © 2014. Published by Elsevier SAS.

  18. Adrenal Mass Causing Secondary Hypertension.

    Science.gov (United States)

    Robinson, Darlene Y

    2015-11-01

    Most hypertensive patients have essential (primary) hypertension; only 5% to 10% have a secondary cause. Two clinical characteristics suggestive of secondary hypertension are early onset (hypertension (>180/110 mm Hg). When faced with these findings, clinicians should consider a secondary cause of hypertension. A 22-year-old woman being evaluated for asthma exacerbation in the emergency department was noted to have severe persistent hypertension. Additional evaluation revealed severe hypokalemia, metabolic alkalosis, and hypernatremia. The patient was admitted to the hospital for blood pressure management, electrolyte replacement, and further evaluation of presumed hyperaldosteronism. Diagnostic imaging revealed a large adrenal mass. Surgical resection was performed, leading to a diagnosis of hyperaldosteronism caused by adrenal carcinoma. WHY SHOULD AN EMERGENCY PHYSICIAN BE AWARE OF THIS?: Secondary hypertension is far less common than essential hypertension; however, considering the large volume of patients seen in emergency departments, it is likely that some will have secondary hypertension. Emergency physicians should be aware of the clinical characteristics that suggest secondary hypertension so that the appropriate diagnostic and treatment pathways can be pursued. Copyright © 2015 Elsevier Inc. All rights reserved.

  19. Adrenal Vein Catecholamine Levels and Ratios: Reference Intervals Derived from Patients with Primary Aldosteronism.

    Science.gov (United States)

    Sze, Candy W C; O'Toole, Samuel Matthew; Tirador, Roger Kent; Akker, Scott A; Matson, Matthew; Perry, Leslie; Druce, Maralyn Rose; Dekkers, Tanja; Deinum, Jaap; Lenders, Jacques W M; Eisenhofer, Graeme; Drake, William Martyn

    2017-06-01

    Phaeochromocytoma localisation is generally reliably achieved with modern imaging techniques, particularly in sporadic cases. On occasion, however, there can be diagnostic doubt due to the presence of bilateral adrenal abnormalities, particularly in patients with mutations in genes predisposing them to the development of multiple phaeochromocytomas. In such cases, surgical intervention is ideally limited to large or functional lesions due to the long-term consequences associated with hypoadrenalism. Adrenal venous sampling (AVS) for catecholamines has been used in this situation to guide surgery, although there are few data available to support diagnostic thresholds. Retrospective analyses of AVS results from 2 centres were carried out. A total of 172 patients (88 men, 84 women) underwent AVS under cosyntropin stimulation for the diagnosis of established primary aldosteronism (PA) with measurement of adrenal and peripheral venous cortisol, aldosterone and catecholamines. Six patients (3 men, 3 women) with phaeochromocytoma underwent AVS for diagnostic purposes with subsequent histological confirmation. Reference intervals for the adrenal venous norepinephrine to epinephrine ratio were created from the PA group. Using the 97.5th centile (1.21 on the left, 1.04 on the right), the false negative rate in the phaeochromocytoma group was 0%. In conclusion, this study describes the largest dataset of adrenal venous catecholamine measurements and provides reference intervals in patients without phaeochromocytoma. This strengthens the certainty with which conclusions related to adrenal venous sampling for catecholamines can be drawn, acknowledging the procedure is not part of the routine diagnostic workup and is an adjunct for use only in difficult clinical cases. © Georg Thieme Verlag KG Stuttgart · New York.

  20. Bilateral meandering pulmonary veins

    Energy Technology Data Exchange (ETDEWEB)

    Thupili, Chakradhar R.; Udayasankar, Unni [Pediatric Imaging, Imaging Institute Cleveland Clinic, Cleveland, OH (United States); Renapurkar, Rahul [Imaging Institute Cleveland Clinic, Thoracic Imaging, L10, Cleveland, OH (United States)

    2015-06-15

    Meandering pulmonary veins is a rare clinical entity that can be mistaken for more complex congenital syndromes such as hypogenetic lung syndrome. We report imaging findings in a rare incidentally detected case of bilateral meandering pulmonary veins. We briefly discuss the role of imaging in diagnosing this condition, with particular emphasis on contrast-enhanced CT. (orig.)

  1. Bilateral Periventricular Nodular Heterotopia

    OpenAIRE

    J Gordon Millichap

    1998-01-01

    Two unrelated boys, ages 8 and 5 years, with a syndrome of bilateral periventricular nodular heterotopia (BPNH), regional cortical dysplasia, mild mental retardation, and frontonasal malformation (FNM) are reported from the Instituto di Neuropsychiatria Infantile, University of Pisa, Italy, and the Institute of Human Genetics, University of Minnesota Medical School, Minneapolis, MN.

  2. Homogeneous bilateral block shifts

    Indian Academy of Sciences (India)

    Douglas class were classified in [3]; they are unilateral block shifts of arbitrary block size (i.e. dim H(n) can be anything). However, no examples of irreducible homogeneous bilateral block shifts of block size larger than 1 were known until now.

  3. Synchronous, bilateral tonsillar carcinomas

    DEFF Research Database (Denmark)

    Nami Saber, Camelia; Grønhøj, Christian; Jensen, David Hebbelstrup

    2017-01-01

    INTRODUCTION: The incidence of oropharyngeal squamous cell carcinoma (OPSCC) is increasing, but data on the incidence of synchronous, bilateral tonsillar squamous cell carcinomas (BiTSCCs) is sparse. In this study, we report the incidence and tumour characteristics of BiTSCCs in a population-base...

  4. Bilateral breast carcinoma

    International Nuclear Information System (INIS)

    Kim, Eung Jo; Oh, Ki Keun

    1990-01-01

    We evaluate 311 breast cancer patients admitted to Yong Dong Severance Hospital Between October 1st 1985 and July 31th 1989, and were able to obtain the following conclusions. 1) There were 14(4.5%) bilateral breast cancers among the 311 confirmed breast cancers. 2) Among the bilateral breast cancers, 5(31%) were synchronous and 9(69%) metachronous. 3) Average interval between the first and the second breast cancer in metachronous cancers was 3.8 year(1-15 years). 4) Bilateral breast cancer was most prevalent in the fifth decade (6/14) with the mean age of 47 years. 5) Film mammogram and sonomammogram showed findings of typical breast malignancies. There was no additional specific findings for each cancer in bilateral breast cancers which was different from unilateral cancers. Therefor, in the patients with unilateral breast cancer, possibility of the second lesion in the contralateral side must be considered and a close follow up observation should be done for at least 3 years

  5. Cervical lymph node hyperplasia on [18F]-fluorodeoxyglucose positron emission tomography/computed tomography scan after treatment of children and adolescents with malignant lymphoma

    International Nuclear Information System (INIS)

    Hu, Ying-Ying; Zhang, Xu; Long, Wen; Lin, Xiao-Ping; Zhang, Ya-Rui; Li, Yuan-Hua; Xiao, Zi-Zheng; Zheng, Rong-Liang; Liang, Pei-Yan; Fan, Wei

    2015-01-01

    Highlights: • Cervical lymph node hyperplasia is a benign processes. • Lymph node hyperplasia found in treated children and adolescents with lymphoma. • We define imaging manifestations of cervical lymph node hyperplasia in PET/CT. • Awareness of lymph node hyperplasia avoid invasive procedures and over-treatment. - Abstract: Purpose: To define imaging manifestations and clinical prognosis of cervical lymph node hyperplasia using [ 18 F]-fluorodeoxyglucose positron emission tomography/computed tomography (FDG PET/CT) scanning after treatment of children and adolescents with malignant lymphoma. Methods: Children and adolescent patients with malignant lymphoma who had high FDG uptake in their cervical lymph nodes via PET/CT after treatment, which was not due to tumor recurrence or residue, were retrospectively analyzed. Results: Twenty-seven patients with a median age of 12 years were included; 11 had Hodgkin's disease and 16 had non-Hodgkin's lymphoma. The time from PET/CT scan to completion of therapy was 1–36 months, 85.2% (23/27) of which took place within 12 months. Three patients had confirmed lymph node follicular hyperplasia by biopsy, while all 27 patients achieved disease-free survival during the follow-up period. The maximum standardized uptake values (SUV max ) of cervical lymph nodes were 2.2–16.2 and the maximum short axis ranged from 0.3 to 1.2 cm. Cervical lymph node hyperplasia was noted in neck levels I–V, and neck level II bilaterally had the highest incidence (100%). Bilateral cervical lymph node hyperplasia was symmetrical in terms of both the SUV max and affected locations. Thymic hyperplasia and nasopharyngeal lymphoid hyperplasia were both observed in 24 patients (88.9%). There was no relationship in terms of the SUV max between cervical lymph nodes and thymic tissue, cervical nodes or nasopharyngeal lymphoid tissue. Conclusion: Cervical lymph node hyperplasia with high FDG uptake on PET/CT scans found after treating

  6. Cervical lymph node hyperplasia on [{sup 18}F]-fluorodeoxyglucose positron emission tomography/computed tomography scan after treatment of children and adolescents with malignant lymphoma

    Energy Technology Data Exchange (ETDEWEB)

    Hu, Ying-Ying, E-mail: huyy@sysucc.org.cn; Zhang, Xu, E-mail: zhangxu2@sysucc.org.cn; Long, Wen, E-mail: longwen2@sysucc.org.cn; Lin, Xiao-Ping, E-mail: linxp@sysucc.org.cn; Zhang, Ya-Rui, E-mail: zhangyr@sysucc.org.cn; Li, Yuan-Hua, E-mail: liyh@sysucc.org.cn; Xiao, Zi-Zheng, E-mail: xiaozzh@sysucc.org.cn; Zheng, Rong-Liang, E-mail: zhengrl@sysucc.org.cn; Liang, Pei-Yan, E-mail: liangpy@sysucc.org.cn; Fan, Wei, E-mail: fanwei@sysucc.org.cn

    2015-07-15

    Highlights: • Cervical lymph node hyperplasia is a benign processes. • Lymph node hyperplasia found in treated children and adolescents with lymphoma. • We define imaging manifestations of cervical lymph node hyperplasia in PET/CT. • Awareness of lymph node hyperplasia avoid invasive procedures and over-treatment. - Abstract: Purpose: To define imaging manifestations and clinical prognosis of cervical lymph node hyperplasia using [{sup 18}F]-fluorodeoxyglucose positron emission tomography/computed tomography (FDG PET/CT) scanning after treatment of children and adolescents with malignant lymphoma. Methods: Children and adolescent patients with malignant lymphoma who had high FDG uptake in their cervical lymph nodes via PET/CT after treatment, which was not due to tumor recurrence or residue, were retrospectively analyzed. Results: Twenty-seven patients with a median age of 12 years were included; 11 had Hodgkin's disease and 16 had non-Hodgkin's lymphoma. The time from PET/CT scan to completion of therapy was 1–36 months, 85.2% (23/27) of which took place within 12 months. Three patients had confirmed lymph node follicular hyperplasia by biopsy, while all 27 patients achieved disease-free survival during the follow-up period. The maximum standardized uptake values (SUV{sub max}) of cervical lymph nodes were 2.2–16.2 and the maximum short axis ranged from 0.3 to 1.2 cm. Cervical lymph node hyperplasia was noted in neck levels I–V, and neck level II bilaterally had the highest incidence (100%). Bilateral cervical lymph node hyperplasia was symmetrical in terms of both the SUV{sub max} and affected locations. Thymic hyperplasia and nasopharyngeal lymphoid hyperplasia were both observed in 24 patients (88.9%). There was no relationship in terms of the SUV{sub max} between cervical lymph nodes and thymic tissue, cervical nodes or nasopharyngeal lymphoid tissue. Conclusion: Cervical lymph node hyperplasia with high FDG uptake on PET/CT scans found

  7. MANAGEMENT OF ENDOCRINE DISEASE: Outcome of adrenal sparing surgery in heritable pheochromocytoma.

    Science.gov (United States)

    Castinetti, F; Taieb, D; Henry, J F; Walz, M; Guerin, C; Brue, T; Conte-Devolx, B; Neumann, H P H; Sebag, F

    2016-01-01

    The management of hereditary pheochromocytoma has drastically evolved in the last 20 years. Bilateral pheochromocytoma does not increase mortality in MEN2 or von Hippel-Lindau (VHL) mutation carriers who are followed regularly, but these mutations induce major morbidities if total bilateral adrenalectomy is performed. Cortical sparing adrenal surgery may be proposed to avoid definitive adrenal insufficiency. The surgical goal is to leave sufficient cortical tissue to avoid glucocorticoid replacement therapy. This approach was achieved by the progressive experience of minimally invasive surgery via the transperitoneal or retroperitoneal route. Cortical sparing adrenal surgery exhibits management of all patients with MEN2 or VHL hereditary pheochromocytoma. Hereditary pheochromocytoma is a rare disease, and a randomized trial comparing cortical sparing vs classical adrenalectomy is probably not possible. This lack of data most likely explains why cortical sparing surgery has not been adopted in most expert centers that perform at least 20 procedures per year for the treatment of this disease. This review examined recent data to provide insight into the technique, its indications, and the results and subsequent follow-up in the management of patients with hereditary pheochromocytoma with a special emphasis on MEN2. © 2016 European Society of Endocrinology.

  8. Tablets or scalpel: Pituitary hyperplasia due to primary hypothyroidism

    Directory of Open Access Journals (Sweden)

    Ahmed Imran Siddiqi, MBBS, MRCP

    2015-01-01

    Full Text Available We describe a patient with pituitary hyperplasia due to primary hypothyroidism. Pituitary hyperplasia and pituitary masses cannot be reliably differentiated on imaging alone, despite significant improvement in imaging quality in recent years.

  9. Neoplasia versus hyperplasia of the retinal pigment epithelium

    DEFF Research Database (Denmark)

    Heegaard, Steffen; Larsen, J.N.B.; Fledelius, Hans C.

    2001-01-01

    ophthalmology, retinal pigment epithelium, adenoma, tumor-like hyperplasia, histology, immunohistochemistry, tumor, neoplasm, ultrasonography......ophthalmology, retinal pigment epithelium, adenoma, tumor-like hyperplasia, histology, immunohistochemistry, tumor, neoplasm, ultrasonography...

  10. Extensive Focal Epithelial Hyperplasia: A Case Report.

    Science.gov (United States)

    Mansouri, Zahra; Bakhtiari, Sedigheh; Noormohamadi, Robab

    2015-01-01

    Focal epithelial hyperplasia (FEH) or Heck's disease is a rare viral infection of the oral mucosa caused by human papilloma virus especially subtypes 13 or 32. The frequency of this disease varies widely from one geographic region and ethnic groups to another. This paper reports an Iranian case of extensive focal epithelial hyperplasia. A 35-year-old man with FEH is described, in whom the lesions had persisted for more than 25 years. The lesion was diagnosed according to both clinical and histopathological features. Dental practitioner should be aware of these types of lesions and histopathological examination together and a careful clinical observation should be carried out for a definitive diagnosis.

  11. Thymic hyperplasia - clinical course and imaging diagnostic

    International Nuclear Information System (INIS)

    Drebov, R.; Panov, M.; Totev, M.; Deliverski, T.; Tcandev, I.; Velkovski, I.

    2006-01-01

    The real thymic hyperplasia is benign disease sometimes simulating malignant tumours. The aim of this study is to analyse the clinical symptoms of real thymic hyperplasia and the results from imaging diagnostic based on our clinical material. Clinical material include 27 children, aged from two months to 15 years, admitted in department of thoracic surgery, for a period of 20 years (1985 - 2004). We retrospectively analyze the clinical signs and results from X-ray investigation, CT (Siemens Somatom DRG and Philips Secura) and echocardiography (Acuson TX, 5 and 7 MHz). We discuss the diagnostic value of different methods as well as typical and atypical findings. (authors)

  12. Pseudoepitheliomatous Hyperplasia in a Red Pigment Tattoo

    Science.gov (United States)

    Kazlouskaya, Viktoryia

    2015-01-01

    Red pigment tattoos are known to cause pseudoepitheliomatous hyperplasia in the skin, frequently simulating squamous cell carcinoma or keratoacanthoma. Herein, the authors present two additional cases of red pigment tattoo pseudoepitheliomatous hyperplasia in which they noted a lichenoid tissue reaction. They reviewed the previously published cases and observed a lichenoid reaction in the histopathological images similar to hypertrophic lichen planus. The authors suggest that these reactions might best be referred to as “lichenoid reaction with pseudoepitheliomatous hyperplasia” or “hypertrophic lichen planus-like reaction.” Accordingly, recognition of an inflammatory component may allow additional treatment options. PMID:26705448

  13. Combination therapy with gefitinib and doxorubicin inhibits tumor growth in transgenic mice with adrenal neuroblastoma

    International Nuclear Information System (INIS)

    Kawano, Kumi; Hattori, Yoshiyuki; Iwakura, Hiroshi; Akamizu, Takashi; Maitani, Yoshie

    2013-01-01

    Highly relevant mouse models of human neuroblastoma (NB) are needed to evaluate new therapeutic strategies against NB. In this study, we characterized transgenic mice with bilateral adrenal tumors. On the basis of information from the tumoral gene expression profiles, we examined the antitumor effects of unencapsulated and liposomal doxorubicin (DXR), alone and in combination with gefitinib, on adrenal NB. We showed that intravenous injection of unencapsulated or liposomal DXR alone inhibited tumor growth in a dose-dependent manner, as assessed by magnetic resonance imaging (MRI). However, liposomal DXR did not exhibit greater antitumor effect than unencapsulated DXR. Immunohistochemical analysis revealed that the adrenal tumor vasculature with abundant pericyte coverage was a less leaky structure for liposomes. Combination therapy with unencapsulated or liposomal DXR plus gefitinib strongly suppressed tumor growth and delayed tumor regrowth than treatment with unencapsulated or liposomal DXR alone, even at a lower dose of DXR. Dynamic contrast-enhanced MRI analysis revealed that gefitinib treatment increased blood flow in the tumor, indicating that gefitinib treatment changes the tumor vascular environment in a manner that may increase the antitumor effect of DXR. In conclusion, the combination of gefitinib and DXR induces growth inhibition of adrenal NBs in transgenic mice. These findings will provide helpful insights into new treatments for NB

  14. What are the keys to successful adrenal venous sampling (AVS) in patients with primary aldosteronism?

    Science.gov (United States)

    Young, William F; Stanson, Anthony W

    2009-01-01

    Adrenal venous sampling (AVS) is the criterion standard to distinguish between unilateral and bilateral adrenal disease in patients with primary aldosteronism. The keys to successful AVS include appropriate patient selection, careful patient preparation, focused technical expertise, defined protocol, and accurate data interpretation. The use of AVS should be based on patient preferences, patient age, clinical comorbidities, and the clinical probability of finding an aldosterone-producing adenoma. AVS is optimally performed in the fasting state in the morning. AVS is an intricate procedure because the right adrenal vein is small and may be difficult to locate - the success rate depends on the proficiency of the angiographer. The key factors that determine the successful catheterization of both adrenal veins are experience, dedication and repetition. With experience, and focusing the expertise to 1 or 2 radiologists at a referral centre, the AVS success rate can be as high as 96%. A centre-specific, written protocol is mandatory. The protocol should be developed by an interested group of endocrinologists, radiologists and laboratory personnel. Safeguards should be in place to prevent mislabelling of the blood tubes in the radiology suite and to prevent sample mix-up in the laboratory.

  15. Neonatal adrenal hemorrhage presenting as late onset neonatal jaundice

    OpenAIRE

    Qureshi, Umar Amin; Ahmad, Nisar; Rasool, Akhter; Choh, Suhail

    2009-01-01

    Clinical manifestations of adrenal hemorrhage vary depending on the degree and rate of hemorrhage, as well as the amount of adrenal cortex compromised by hemorrhage. We report here a case of neonatal adrenal hemorrhage that presented with late onset neonatal jaundice. The cause of adrenal hemorrhage was birth asphyxia.

  16. Patient-specific workup of adrenal incidentalomas

    Directory of Open Access Journals (Sweden)

    Romy R. de Haan

    Full Text Available Purpose: : To develop a clinical prediction model to predict a clinically relevant adrenal disorder for patients with adrenal incidentaloma. Materials and methods: : This retrospective study is approved by the institutional review board, with waiver of informed consent. Natural language processing is used for filtering of adrenal incidentaloma cases in all thoracic and abdominal CT reports from 2010 till 2012. A total of 635 patients are identified. Stepwise logistic regression is used to construct the prediction model. The model predicts if a patient is at risk for malignancy or hormonal hyperfunction of the adrenal gland at the moment of initial presentation, thus generates a predicted probability for every individual patient. The prediction model is evaluated on its usefulness in clinical practice using decision curve analysis (DCA based on different threshold probabilities. For patients whose predicted probability is lower than the predetermined threshold probability, further workup could be omitted. Results: : A prediction model is successfully developed, with an area under the curve (AUC of 0.78. Results of the DCA indicate that up to 11% of patients with an adrenal incidentaloma can be avoided from unnecessary workup, with a sensitivity of 100% and specificity of 11%. Conclusion: : A prediction model can accurately predict if an adrenal incidentaloma patient is at risk for malignancy or hormonal hyperfunction of the adrenal gland based on initial imaging features and patient demographics. However, with most adrenal incidentalomas labeled as nonfunctional adrenocortical adenomas requiring no further treatment, it is likely that more patients could be omitting from unnecessary diagnostics. Keywords: Adrenal incidentaloma, Patient-specific workup, Prediction model

  17. Bilateral renal calculi

    Science.gov (United States)

    Sreenevasan, G

    1974-01-01

    Bilateral renal calculi were present in 114 (10.7%) of 1,070 cases of proved urinary calculus admitted to the Urological Department of the General Hospital, Kuala Lumpur, during the period November 1968—May 1973. The management of bilateral renal calculi is discussed with reference to the first 100 cases in this series. The introduction of renography has greatly facilitated the decision as to which kidney should be operated on first. The management of patients with and without uraemia is discussed and the use of the modified V and V—Y incisions for the removal of staghorn calculi is described. Complications and results are briefly reviewed. ImagesFig. 1Fig. 4Fig. 6Fig. 7 PMID:4845653

  18. Bilateral chronic subdural hematoma

    DEFF Research Database (Denmark)

    Andersen-Ranberg, Nina Christine; Rom Poulsen, Frantz; Bergholt, Bo

    2017-01-01

    OBJECTIVE Bilateral chronic subdural hematoma (bCSDH) is a common neurosurgical condition frequently associated with the need for retreatment. The reason for the high rate of retreatment has not been thoroughly investigated. Thus, the authors focused on determining which independent predictors...... are associated with the retreatment of bCSDH with a focus on surgical laterality. METHODS In a national database of CSDHs (Danish Chronic Subdural Hematoma Study) the authors retrospectively identified all bCSDHs treated in the 4 Danish neurosurgical departments over the 3-year period from 2010 to 2012...... that a separated hematoma density and the absence of postoperative drainage were independent predictors of retreatment. CONCLUSIONS In bCSDHs bilateral surgical intervention significantly lowers the risk of retreatment compared with unilateral intervention and should be considered when choosing a surgical...

  19. Bilateral Wilms' tumor

    International Nuclear Information System (INIS)

    Malcolm, A.W.; Jaffe, N.; Folkman, M.J.; Cassady, J.R.

    1980-01-01

    Twenty children with bilateral Wilms' tumor were presented to the Children's Hospital Medical Center and Children's Cancer Research Foundation, Sidney Farber Cancer Institute, and Joint Center for Radiation Therapy (CHMC-CCRF, SFCI, JCRT) from January 1, 1956 to December 31, 1976. Of these 20, 16 had simultaneous and 4 had metachronous disease on presentation. All patients were treated with surgery, radiation and chemotherapy. Of the 16 patients with simultaneous disease, 10 (63%) are alive and free of disease 12+ to 175+ months post diagnosis and treatment, with median follow-up of 121 months. There were no long-term survivors in the metachronous group; all were dead of disease within 21 months from initial presentation of original tumor. With these data we relate prognosis to extent of disease and discuss a general approach to the management of bilateral Wilms' tumor

  20. Multilateral and bilateral agreements

    International Nuclear Information System (INIS)

    Koponen, H.

    1993-01-01

    Finland has made both multilateral and bilateral agreements on the exchange of information related to radiation safety. The first arrangements for international agreements and exchange of information were made after the Chernobyl accident. In 1987, Finland joined the convention on early notification of a nuclear power accident coordinated by International Atomic Energy Agency. The convention is applied to accidents that cause of may cause emissions of radioactive substances that might affect the radiation safety of another country. Besides the convention on early notification, some other individual agreements have also been made. These include the International Nuclear Event Scale (INES) system and power companies own information exchange systems. Finland has conducted bilateral agreements with the Nordic countries and the Soviet Union on the notification of accidents and exchange of nuclear power plant information. Today, Russia answers for the Soviet Union's contractual obligations. (orig.)

  1. Adrenal Ewing's Sarcoma in an Elderly Man.

    Science.gov (United States)

    Toda, Kazuyoshi; Ishii, Sumiyasu; Yasuoka, Hidetoshi; Nishioka, Masaki; Kobayashi, Takayuki; Horiguchi, Kazuhiko; Tomaru, Takuya; Ozawa, Atsushi; Shibusawa, Nobuyuki; Satoh, Tetsurou; Koshi, Hiromi; Segawa, Atsuki; Shimizu, Shin-Ichi; Oyama, Tetsunari; Yamada, Masanobu

    2018-02-15

    Ewing's sarcoma usually arises in the bones of children and adolescents. We herein report a 74-year-old man with Ewing's sarcoma in the adrenal gland. The diagnosis was confirmed by a genetic test, pathological studies, and several imaging studies. He already had multiple liver metastases when he was transferred to our hospital and died on the 37th day. The diagnosis was further confirmed by autopsy studies. Adrenal Ewing's sarcoma is very rare, and our patient was older than other reported cases. Ewing's sarcoma should be considered even in elderly patients with adrenal tumors.

  2. Rapid development of anterotibial compartment syndrome and rhabdomyolysis in a patient with primary hypothyroidism and adrenal insufficiency.

    Science.gov (United States)

    Muir, Paul; Choe, Michelle S; Croxson, Michael S

    2012-06-01

    Anterior compartment syndrome (ACS) and rhabdomyolysis are rare complications of hypothyroid myopathy. We report the case of a young man with rapid onset of ACS who presented with simultaneous primary hypothyroidism and adrenal insufficiency associated with acute renal failure, hyponatremia, and hyperkalemia. A 22-year-old man presenting with a one-month history of tiredness, hyperpigmentation, and cramps in his calves was found to have severe bilateral foot drop. Investigations revealed severe primary hypothyroidism and adrenal insufficiency, renal failure, and evidence of rhabdomyolysis with myoglobinuria. Abnormal biochemical findings included serum sodium of 110 mM, serum potassium of 6.9 mM, and serum creatine kinase (CK) of >25,000 IU/L. Magnetic resonance imaging (MRI) of his legs showed changes of myonecrosis confined to anterior tibial muscles typical of ACS. After treatment with intravenous fluids, potassium-lowering therapies, thyroxine, and hydrocortisone, his renal and metabolic function returned to normal, but irreversible bilateral foot drop persisted. A young man with primary hypothyroidism, adrenal insufficiency, hyponatremia, and hyperkalemia presented with severe myopathy, such that muscle necrosis, apparently confined to the anterior tibial compartment on MRI, led to rhabdomyolysis, acute renal failure, and irreversible bilateral peroneal nerve damage. It is possible that other patients with primary hypothyroidism and marked elevations of CK without widespread myopathy or rhabdomyolysis may demonstrate evidence of differential muscle effects in the anterior compartment when assessed by MRI, but that this patient also had adrenal insufficiency raises the possibility that this was a contributing factor. Severe thyroid myopathy and rhabdomyolysis may be associated with anatomic susceptibility to ACS, particularly in the presence of concomitant adrenal insufficiency. MRI examination reveals a distinctive appearance of myonecrosis confined to

  3. Bilateral renal artery variation

    OpenAIRE

    Üçerler, Hülya; Üzüm, Yusuf; İkiz, Z. Aslı Aktan

    2014-01-01

    Each kidney is supplied by a single renal artery, although renal artery variations are common. Variations of the renal arteryhave become important with the increasing number of renal transplantations. Numerous studies describe variations in renalartery anatomy. Especially the left renal artery is among the most critical arterial variations, because it is the referred side forresecting the donor kidney. During routine dissection in a formalin fixed male cadaver, we have found a bilateral renal...

  4. File: International bilateral relations

    International Nuclear Information System (INIS)

    Feltin, Ch.; Rabouhams, J.; Bravo, X.; Rousseau, M.; Le Breton, S.; Saint Raymond, Ph.; Brigaud, O.; Pertuis, V.; McNair, J.; Sayers, M.R.; Bye, R.; Scherrer, J.

    1998-01-01

    Since its creation in 1973, the Authority of Safety was assigned missions in the international field with following objectives: to develop information exchanges with its foreign counterpart, to make know and to explain the French approach and practice; to give to concerned countries the useful information on french nuclear facilities situated near the border; This file shows with some examples, how bilateral relations allow to fill up these objectives and how the French Authority got the foreign experience. (N.C.)

  5. Whole Exome Sequencing for the differential diagnosis of primary adrenal insufficiency in children

    Directory of Open Access Journals (Sweden)

    Li F Chan

    2015-08-01

    Full Text Available Adrenal insufficiency is a rare, but potentially fatal medical condition. In children the cause is most commonly congenital and in recent years a growing number of causative gene mutations have been identified resulting in a myriad of syndromes that share adrenal insufficiency as one of the main characteristics. The evolution of adrenal insufficiency is dependent on the variant and the particular gene affected, meaning rapid and accurate diagnosis is imperative for effective treatment of the patient. Common practice is for candidate genes to be sequenced individually, which is a time consuming process and complicated by overlapping clinical phenotypes. However, with the availability, and increasing cost effectiveness of whole exome sequencing there is the potential for this to become a powerful diagnostic tool. Here we report the results of whole exome sequencing of 43 patients referred to us with a diagnosis of familial glucocorticoid deficiency (FGD who were mutation negative for MC2R, MRAP and STAR the most commonly mutated genes in FGD. WES provided a rapid genetic diagnosis in 17/43 sequenced patients, for the remaining 60% the gene defect may be within intronic/regulatory regions not covered by WES or may be in gene(s representing novel aetiologies. The diagnosis of isolated or familial glucocorticoid deficiency was only confirmed in 3 of the 17 patients, other genetic diagnoses were adrenal hypo- and hyperplasia, Triple A and autoimmune polyendocrinopathy syndrome type I, emphasizing both the difficulty of phenotypically distinguishing between disorders of PAI and the utility of WES as a tool to achieve this.

  6. Idiopathic bilateral male breast abscess.

    Science.gov (United States)

    Sinha, Rajan Kumar; Sinha, Mithilesh Kumar; Gaurav, Kumar; Kumar, Amar

    2014-03-10

    A 38-year-old man presented with bilateral breast swelling, along with pain and redness for 7 days. Bilateral axillary nodes were also palpable; which were multiple and discrete. A provisional diagnosis of bilateral breast abscess was made with suspicion of underlying malignancy. Incision and drainage through subareolar incision was performed and the adjoining tissue was excised and sent for histopathological examination.

  7. Hereditary pituitary hyperplasia with infantile gigantism.

    Science.gov (United States)

    Gläsker, Sven; Vortmeyer, Alexander O; Lafferty, Antony R A; Hofman, Paul L; Li, Jie; Weil, Robert J; Zhuang, Zhengping; Oldfield, Edward H

    2011-12-01

    We report hereditary pituitary hyperplasia. The objective of the study was to describe the results of the clinical and laboratory analysis of this rare instance of hereditary pituitary hyperplasia. The study is a retrospective analysis of three cases from one family. The study was conducted at the National Institutes of Health, a tertiary referral center. A mother and both her sons had very early-onset gigantism associated with high levels of serum GH and prolactin. The condition was treated by total hypophysectomy. We performed clinical, pathological, and molecular evaluations, including evaluation basal and provocative endocrine testing, neuroradiological assessment, and assessment of the pituitary tissue by microscopic evaluation, immunohistochemistry, and electron microscopy. All three family members had very early onset of gigantism associated with abnormally high serum levels of GH and prolactin. Serum GHRH levels were not elevated in either of the boys. The clinical, radiographic, surgical, and histological findings indicated mammosomatotroph hyperplasia. The pituitary gland of both boys revealed diffuse mammosomatotroph hyperplasia of the entire pituitary gland without evidence of adenoma. Prolactin and GH were secreted by the same cells within the same secretory granules. Western blot and immunohistochemistry demonstrated expression of GHRH in clusters of cells distributed throughout the hyperplastic pituitary of both boys. This hereditary condition seems to be a result of embryonic pituitary maldevelopment with retention and expansion of the mammosomatotrophs. The findings suggest that it is caused by paracrine or autocrine pituitary GHRH secretion during pituitary development.

  8. Persistent Primary Aldosteronism Despite Iatrogenic Adrenal Hemorrhage After Adrenal Vein Sampling.

    Science.gov (United States)

    Okamura, Keisuke; Okuda, Tetsu; Shirai, Kazuyuki; Abe, Ichiro; Kobayashi, Kunihisa; Ishii, Tatsu; Haraoka, Seiji; Urata, Hidenori

    2018-01-01

    Before surgery for primary aldosteronism (PA), localization is evaluated with adrenal vein sampling (AVS). A 56-year-old Japanese woman had a right adrenal mass, hypokalemia, and a high aldosterone/renin ratio. Stress tests confirmed the diagnosis of PA. Subsequently, preoperative AVS was performed and right adrenal hemorrhage (AH) occurred unexpectedly. Because hypertension persisted, laparoscopic right adrenalectomy was performed. Postoperatively, the blood pressure was normalized. Pathological examination revealed an adrenal cortical adenoma largely unaffected by necrosis and hemorrhage. Previous reports have also indicated that AH may not ameliorate PA. We discussed the clinical progress of AH and the measures to prevent causing AH.

  9. Persistent Primary Aldosteronism Despite Iatrogenic Adrenal Hemorrhage After Adrenal Vein Sampling

    Science.gov (United States)

    Okamura, Keisuke; Okuda, Tetsu; Shirai, Kazuyuki; Abe, Ichiro; Kobayashi, Kunihisa; Ishii, Tatsu; Haraoka, Seiji; Urata, Hidenori

    2018-01-01

    Before surgery for primary aldosteronism (PA), localization is evaluated with adrenal vein sampling (AVS). A 56-year-old Japanese woman had a right adrenal mass, hypokalemia, and a high aldosterone/renin ratio. Stress tests confirmed the diagnosis of PA. Subsequently, preoperative AVS was performed and right adrenal hemorrhage (AH) occurred unexpectedly. Because hypertension persisted, laparoscopic right adrenalectomy was performed. Postoperatively, the blood pressure was normalized. Pathological examination revealed an adrenal cortical adenoma largely unaffected by necrosis and hemorrhage. Previous reports have also indicated that AH may not ameliorate PA. We discussed the clinical progress of AH and the measures to prevent causing AH. PMID:29238437

  10. Giant adrenal incidentaloma in young patient

    International Nuclear Information System (INIS)

    Andrade, Cristiano Feijo; Espirito Santo, Paulo Rogerio Quieregatto do; Teixeira, Antonio Roberto Franchi

    2000-01-01

    Incidental adrenal tumors are lesions occasionally observed during abdominal US or CT scans. These tumors have been observed in patients without clinical or laboratorial signs of adrenal disease. The authors report a case of a 18 - years - old young man who was admitted to the Franco da Rocha Hospital, Sao Paulo, with abdominal pain and a palpated mass in the epigastrium which began one month ago. These findings were preceded by a blunt trauma at the epigastrium three months earlier. First clinical hypothesis was of a traumatic pancreatic pseudocyst. However, investigation and laparotomy showed a large left adrenal solid mass, weighting 700 g. The mass was removed and histology was performed. There was no evidence of malignant neoplasm, then the diagnostic of incidental adenoma of adrenal was confirmed. The authors hope to stimulate surgeons for early detection of these lesions in order to prevent the complications and improve the prognosis. (author)

  11. Lateral retroperitoneoscopic adrenalectomy for complicated adrenal ...

    African Journals Online (AJOL)

    sected completely, a self-made bag was used to dress up the adrenal ... were stable, and the patients had regained consciousness ... diet and normal ambulation as regards to the requirement ..... The Malaysian Journal of Medical Scienc-.

  12. Pharmacological treatment of the benign prostatic hyperplasia

    International Nuclear Information System (INIS)

    Perez Guerra, Yohani; Molina Cuevas, Vivian; Oyarzabal Yera, Ambar; Mas Ferreiro, Rosa

    2011-01-01

    Benign prostatic hyperplasia is a common disease in over 50 years-old men consisting in uncontrolled and benign growth of prostatic gland that leads to lower urinary tract symptoms. The etiology of benign prostatic hyperplasia is multifactoral involving the increased conversion of testosterone in dihydrotestosterone by the prostatic 5α-reductase action, which brought about events that encourage the prostate growth (static component) and the increase of the bladder and prostate smooth muscle tone (dynamic component) regulated by the aα 1 -adrenoceptors (ADR). The pharmacological treatment of the benign prostatic hyperplasia includes the prostatic 5aα-reductase inhibitors, the aα 1 -adrenoreceptor blockers, their combined therapy and the phytotherapy. This paper was aimed at presenting the most relevant aspects of the pharmacology of drugs used for treating the benign prostatic hyperplasia, and providing elements to analyze their efficacy, safety and tolerability. To this end, a review was made of the different drugs for the treatment of this pathology and they were grouped according to their mechanism of action. Natural products were included as lipid extracts from Serenoa repens and Pygeum africanum as well as D-004, a lipid extract from Roystonea regia fruits, with proved beneficial effects on the main etiological factors of benign prostatic hyperplasia. D-004 is a prostatic 5a-reductase inhibitor, an aα 1 -adrenoceptor antagonist, aα 5-lipooxygenase inhibitor and has antioxidant action, all of which reveals a multifactoral mechanism. The results achieved till now indicate that D-004 is a safe and well-tolerated product

  13. Giant Adrenal Myelolipoma Masquerading as Heart Failure

    Directory of Open Access Journals (Sweden)

    Parijat S. Joy

    2014-03-01

    Full Text Available Adrenal myelolipomas are rare benign tumors of the adrenal cortex composed of adipose and hematopoietic cells. They have been postulated to arise from repeated stimulation by stress, inflammation and ACTH oversecretion. Myelolipomas are usually detected incidentally on imaging and do not require any active intervention besides regular follow-up by imaging. However, myelolipomas may insidiously grow to large sizes and cause mass effects and hemorrhage. Timely diagnosis and surgical resection are curative and lifesaving.

  14. Immunologic, hemodynamic, and adrenal incompetence in cirrhosis

    DEFF Research Database (Denmark)

    Risør, Louise Madeleine; Bendtsen, Flemming; Møller, Søren

    2015-01-01

    dysfunction, but is not responsive to volume expansion. Recent research indicates that development of hepatic nephropathy represents a continuous spectrum of functional and structural dysfunction and may be precipitated by the inherent immunologic, adrenal, and hemodynamic incompetence in cirrhosis. New...... research explores several new markers of renal dysfunction that may replace serum creatinine in the future and give new insight on the hepatic nephropathy. Our understanding of the pathophysiological mechanisms causing the immunologic, adrenal, and hemodynamic incompetence, and the impact on renal...

  15. Chronic Heroin Dependence Leading to Adrenal Insufficiency

    Directory of Open Access Journals (Sweden)

    Gautam Das

    2014-01-01

    Full Text Available Opioids have been the mainstay for pain relief and palliation over a long period of time. They are commonly abused by drug addicts and such dependence usually imparts severe physiologic effects on multiple organ systems. The negative impact of opioids on the endocrine system is poorly understood and often underestimated. We describe a patient who developed severe suppression of the hypothalamic-pituitary adrenal (HPA axis leading to secondary adrenal insufficiency due to long standing abuse of opioids.

  16. Fatal bilateral dioctophymatosis.

    Science.gov (United States)

    Li, Gang; Liu, Caigang; Li, Fang; Zhou, Maoyi; Liu, Xiangyong; Niu, Yuanjie

    2010-12-01

    Dioctophyma renale is a parasite that frequently occurs in animals but rarely in humans. The present report describes the clinical observations of a D. renale infection in a 51-yr-old woman. Its clinical signs and diagnostic findings were unspecific until giant worms were observed in the urine and histological findings confirmed it was a D. renale infection. She refused treatment and died of bilateral renal function failure. This is the first confirmed report to follow the natural progression of D. renale infection in a human. Here, we discuss a conservative therapeutic approach and features associated with this parasitic infection.

  17. Recurrent Bilateral Focal Myositis.

    Science.gov (United States)

    Nagafuchi, Hiroko; Nakano, Hiromasa; Ooka, Seido; Takakuwa, Yukiko; Yamada, Hidehiro; Tadokoro, Mamoru; Shimojo, Sadatomo; Ozaki, Shoichi

    This report describes a rare case of recurrent bilateral focal myositis and its successful treatment via methotrexate. A 38-year-old man presented myalgia of the right gastrocnemius in May 2005. Magnetic resonance imaging showed very high signal intensity in the right gastrocnemius on short-tau inversion recovery images. A muscle biopsy revealed inflammatory CD4+ cell-dominant myogenic change. Focal myositis was diagnosed. The first steroid treatment was effective. Tapering of prednisolone, however, repeatedly induced myositis relapse, which progressed to multiple muscle lesions of both lower limbs. Initiation of methotrexate finally allowed successful tapering of prednisolone, with no relapse in the past 4 years.

  18. Estudio de 34 pacientes con incidentaloma suprarrenal A study of 34 cases of adrenal incidentaloma

    Directory of Open Access Journals (Sweden)

    Raúl A. Chervin

    2007-08-01

    clinical concern. Although in most cases they are benign and hormonally nonfunctioning, it is important to appropriately identify those few cases of malignant or hyperfunctioning lesions of surgical resolution. Although several proposals for an optimal diagnostic strategy have been designed, controversy over a series of questions still persists. In the present retrospective study we analyzed 34 patients with adrenal incidentaloma. Of these, 32% of the patients displayed hyperfunctioning pathologies that included subclinical Cushing's syndrome in four patients, probable primary hyperaldosteronism in two, late onset congenital adrenal hyperplasia in one, adrenocortical carcinoma in one and pheochromocytoma in three. CT and/or MRI permitted the identification of adenomas and were crucial to decide on surgery in two patients with nonfunctioning pheochromocytomas and in a patient carrying a primitive adrenocortical carcinoma, a diagnosis also suggested by a mixed pattern of hypersecretion of androgens and cortisol. In a diabetic and hypertensive patient with subclinical Cushing's syndrome both comorbidities were solved by surgery. Nonfunctioning tumors were mainly adenomas (87% with individual cases of histoplasmosis, pseudocyst, idiopathic adrenal hyperplasia and mielolipoma. Six of the eight operated patients presented malignant and/or hyperfunctioning tumors. The pathology associated with incidentalomas represents a broad spectrum of risk for patients and reaffirms the necessity for a meticulous clinical, biochemical, and imaging evaluation in order to make appropriate decisions.

  19. The rat cochlea in the absence of circulating adrenal hormones: an electrophysiological and morphological study.

    Science.gov (United States)

    Lohuis, P J; Börjesson, P K; Klis, S F; Smoorenburg, G F

    2000-05-01

    Circulating adrenal hormones affect strial function. Removal of endogenous levels of adrenal steroids by bilateral adrenalectomy (ADX) in rats causes a decrease of Na(+)/K(+)-ATPase activity in the cochlear lateral wall [Rarey et al., 1989. Arch. Otolaryngol. Head Neck Surg. 115, 817-821] and a decrease of the volume of the marginal cells in the stria vascularis [Lohuis et al., 1990. Acta Otolaryngol. (Stockh.) 110, 348-356]. To study further the effect of absence of circulating adrenocorticosteroids on cochlear function, 18 male Long Evans rats underwent either an ADX or a SHAM operation. Electrocochleography was performed 1 week after surgery for tone bursts in a frequency range of 1-16 kHz. Thereafter, the cochleas were harvested and examined histologically. No significant changes in the amplitude growth curves of the summating potential (SP), the compound action potential (CAP) and the cochlear microphonics (CM) were detected after ADX. However, visually, there appeared to be a decrease of endolymphatic volume (tentatively called imdrops). Reissner's membrane (RM) extended less into scala vestibuli in ADX animals than in SHAM-operated animals. The ratio between the length of RM and the straight distance between the medial and lateral attachment points of RM were used as an objective measure to quantify this effect in each sub-apical half turn of the cochlea. The decrease in length of RM was statistically significant. Thus, circulating adrenal hormones appear to be necessary for normal cochlear fluid homeostasis. Absence of one or more of these hormones leads to shrinkage of the scala media (imdrops). However, the absence of adrenal hormones does not affect the gross cochlear potentials. Apparently, the cochlea is capable of compensating for the absence of circulating adrenal hormones to sustain the conditions necessary for proper cochlear transduction.

  20. Determination of adrenal volume by MRI in healthy children

    DEFF Research Database (Denmark)

    Mouritsen, Annette; Johansen, Marie Lindhardt; Wohlfahrt-Veje, Christine

    2014-01-01

    , to estimate adrenal size in healthy children and to evaluate determinants of adrenal volume such as age, gender, body size, pubic hair stage and serum levels of adrenal androgens. DESIGN: Two hundred and thirty-five healthy children (116 girls and 119 boys) (age range 10.0-14.8 years) were examined by MRI......% of healthy children aged 10-15 years. Adrenal volume increased with age and Tanner stage of pubic hair. Future studies will unravel whether adrenal MRI is useful when evaluating children with adrenal diseases....... (estimate B = 0.34 ml/year, P = 0.03), age (estimate B = 0.05 ml/year, P = 0.021) and pubic hair stage (estimate B = 0.05 ml/stage, P = 0.075). No associations between adrenal size and serum levels of adrenal androgens were observed. CONCLUSION: It was possible to determine adrenal volume by MRI in only 50...

  1. Bilateral acoustic neuromas.

    Science.gov (United States)

    Anand, V T; Byrnes, D P; Walby, A P; Kerr, A G

    1993-10-01

    This article reviews 12 patients with bilateral acoustic neuromas. The sex incidence was equal and the mean age at diagnosis was 26.2 years. The family history was positive in nine of the patients. Five patients have had incomplete surgical removal of acoustic neuromas on both sides. Two of them are completely deaf and the other three have severe sensorineural hearing loss in one ear and no hearing in the other ear. In five patients the tumour on one side has been operated on and the other side is being observed with at least short-term preservation of good hearing. The remaining two patients died of intra-cranial complications, one of them post-operatively. Four patients developed facial palsy immediately following surgery and one developed facial weakness 6 months after surgery. Guidelines are discussed for the care of these patients including the timing of surgery and alternative treatment options (observation, radio-surgery and chemotherapy). This is essentially a group of young individuals who have had multiple operations for bilateral acoustic tumours and associated manifestations and for whom the disease and the sequelae of treatment can be tragic.

  2. Sirenomelia associated with discoid adrenal and lumbar meningocoele: An autopsy report.

    Science.gov (United States)

    Islam, Nelofar; Mandal, Bappa; Das, Ram Narayan; Bera, Goutam; Mukherjee, Suchandra; Chatterjee, Uttara

    2017-11-01

    Mermaid syndrome or Sirenomelia is a rare congenital deformity in which the legs are fused and bears resemblance to mermaid's tail. It carries a poor prognosis, due to associated urogenital and gastrointestinal abnormalities. An early antenatal diagnosis using Magnetic Resonance Imaging (MRI) can help in termination of pregnancy. Embryologically, it is considered as the extreme form of caudal regression syndrome due to the persistence of vitelline artery. Here, we report a case of Sirenomelia associated with bilateral renal agenesis along with the rare findings of discoid adrenal, lumbar meningocoele and abnormalities of the hand. Copyright © 2017 Elsevier GmbH. All rights reserved.

  3. Comparison of C-arm computed tomography and on-site quick cortisol assay for adrenal venous sampling: A retrospective study of 178 patients.

    Science.gov (United States)

    Chang, Chin-Chen; Lee, Bo-Ching; Chang, Yeun-Chung; Wu, Vin-Cent; Huang, Kuo-How; Liu, Kao-Lang

    2017-12-01

    To compare the performance of on-site quick cortisol assay (QCA) and C-arm computed tomography (CT) assistance on adrenal venous sampling (AVS) without adrenocorticotropic hormone stimulation. The institutional review board at our hospital approved this retrospective study, which included 178 consecutive patients with primary aldosteronism. During AVS, we used C-arm CT to confirm right adrenal cannulation between May 2012 and June 2015 (n = 100) and QCA for bilateral adrenal cannulation between July 2015 and September 2016 (n = 78). Successful AVS required a selectivity index (cortisol adrenal vein /cortisol peripheral ) of ≥ 2.0 bilaterally. The overall success rate of C-arm CT-assisted AVS was 87%, which increased to 97.4% under QCA (P = .013). The procedure time (C-arm CT, 49.5 ± 21.3 min; QCA, 37.5 ± 15.6 min; P AVS. • Adrenal venous sampling (AVS) is a technically challenging procedure. • C-arm CT and quick cortisol assay (QCA) are efficient for assisting AVS. • QCA might outperform C-arm CT in enhancing AVS performance.

  4. Computed tomography of the adrenal glands in Addision's disease

    International Nuclear Information System (INIS)

    Rzymski, K.; Sobieszczyk, S.; Kosowicz, J.; Akademia Medyczna, Poznan

    1984-01-01

    In 30 cases of chronic adrenal insufficiency (Addison's disease) CT of the adrenal glands was performed using a fourth generation scanner and a 2 mm slice thickness. Adrenal glands were visualized in all the cases. In 26 patients the adrenals were atrophied; the adrenal shape was abnormal in 21 patients. In 15 patients CT disclosed calcifications in one or both glands, which were particularly frequent in patients over the age of 50. Atrophy of adrenal glands was of high occurrence in cases of autoimmune origin. (orig.) [de

  5. Assessment of adrenal function in liver diseases

    Directory of Open Access Journals (Sweden)

    Sandeep Kharb

    2013-01-01

    Full Text Available Background: In recent times, there are reports of adrenal dysfunction in whole spectrum of liver disease. Adrenal insufficiency (AI has been shown to correlate with progression of liver disease. Hence this study was conducted to assess adrenal function in subjects with acute liver disease (ALD, chronic liver disease (CLD and post liver transplantation (LT. Material and Methods: This study included 25 healthy controls, 25 patients of ALD, 20 subjects of CLD with Child-Pugh stage A (CLD-1 and 30 with Child-Pugh stage B or C (CLD-2, and 10 subjects with LT. All subjects were assessed clinically, biochemically and for adrenal functions. Results: AI was present in 9 (34.6% patients with ALD, 20 (40% patients with CLD and 4 (40% in subjects with LT. AI was more common in CLD-2 (18 patients - 60% than CLD-1 (2 patients - 10%. All patients with chronic liver disease had significantly lower basal cortisol (8.8±4.8, P=0.01, stimulated cortisol (18.2±6.3, P <0.00001 and incremental cortisol (9.4±4.6, P <0.00001 as compared to controls. There was increase in percentage of subjects with adrenal dysfunction with progression of liver disease as assessed by Child-Pugh staging. AI was predicted by lower levels of serum protein, serum albumin, total cholesterol and HDL cholesterol and higher levels of serum bilirubin and INR. Adrenal functions showed recovery following liver transplantation. Conclusions: AI forms important part of spectrum of acute and chronic liver disease. Deterioration of synthetic functions of liver disease predicts presence of AI, and these patients should be evaluated for adrenal dysfunction periodically.

  6. The incidence of endometrial hyperplasia and cancer in 1031 patients with a granulosa cell tumor of the ovary: long-term follow-up in a population-based cohort study

    NARCIS (Netherlands)

    van Meurs, Hannah S.; Bleeker, Maaike C. G.; van der Velden, Jacobus; Overbeek, Lucy I. H.; Kenter, Gemma G.; Buist, Marrije R.

    2013-01-01

    Concurrent presence of endometrial hyperplasia or cancer in patients with granulosa cell tumors (GCTs) is common, with reported incidences of 25.6% to 65.5%. Consequently, bilateral salpingo-oophorectomy and hysterectomy is usually recommended in patients with a GCT, but this remains debatable. Our

  7. Flat epithelial atypia and atypical ductal hyperplasia: carcinoma underestimation rate.

    Science.gov (United States)

    Ingegnoli, Anna; d'Aloia, Cecilia; Frattaruolo, Antonia; Pallavera, Lara; Martella, Eugenia; Crisi, Girolamo; Zompatori, Maurizio

    2010-01-01

    This study was carried out to determine the underestimation rate of carcinoma upon surgical biopsy after a diagnosis of flat epithelial atypia and atypical ductal hyperplasia and 11-gauge vacuum-assisted breast biopsy. A retrospective review was conducted of 476 vacuum-assisted breast biopsy performed from May 2005 to January 2007 and a total of 70 cases of atypia were identified. Fifty cases (71%) were categorized as pure atypical ductal hyperplasia, 18 (26%) as pure flat epithelial atypia and two (3%) as concomitant flat epithelial atypia and atypical ductal hyperplasia. Each group were compared with the subsequent open surgical specimens. Surgical biopsy was performed in 44 patients with atypical ductal hyperplasia, 15 patients with flat epithelial atypia, and two patients with flat epithelial atypia and atypical ductal hyperplasia. Five cases of atypical ductal hyperplasia were upgraded to ductal carcinoma in situ, three cases of flat epithelial atypia yielded one ductal carcinoma in situ and two cases of invasive ductal carcinoma, and one case of flat epithelial atypia/atypical ductal hyperplasia had invasive ductal carcinoma. The overall rate of malignancy was 16% for atypical ductal hyperplasia (including flat epithelial atypia/atypical ductal hyperplasia patients) and 20% for flat epithelial atypia. The presence of flat epithelial atypia and atypical ductal hyperplasia at biopsy requires careful consideration, and surgical excision should be suggested.

  8. Epidemiology of clinical benign prostatic hyperplasia

    Directory of Open Access Journals (Sweden)

    Kok Bin Lim

    2017-07-01

    Full Text Available Clinical benign prostatic hyperplasia (BPH is one of the most common diseases in ageing men and the most common cause of lower urinary tract symptoms (LUTS. The prevalence of BPH increases after the age of 40 years, with a prevalence of 8%–60% at age 90 years. Some data have suggested that there is decreased risk among the Asians compared to the western white population. Genetics, diet and life style may play a role here. Recent reports suggest the strong relationship of clinical BPH with metabolic syndrome and erectile dysfunction, as well as the possible role of inflammation as a cause of the prostatic hyperplasia. Lifestyle changes including exercise and diet are important strategies in controlling this common ailment.

  9. Fibro-epithelial hyperplasia mimicking mucocele.

    Science.gov (United States)

    Jain, K; Singh, B D; Dubey, A; Avinash, A

    2014-01-01

    The effects of chronic local irritation have been seen commonly in the form of fibroma or mucocele in children. We report a ten year old girl with the chief complaint of swelling in the lower right region of labial mucosa which was diagnosed clinically as mucocele and histologically as fibro-epithelial hyperplasia. Surgical excision was done under local anesthesia with no post-operative complication.

  10. Conditional Deletion of Pten Causes Bronchiolar Hyperplasia

    OpenAIRE

    Davé, Vrushank; Wert, Susan E.; Tanner, Tiffany; Thitoff, Angela R.; Loudy, Dave E.; Whitsett, Jeffrey A.

    2007-01-01

    Tumor suppressor phosphatase and tensin homolog deleted on chromosome 10 (PTEN) is a lipid phosphatase that regulates multiple cellular processes including cell polarity, migration, proliferation, and carcinogenesis. In this work, we demonstrate that conditional deletion of Pten (PtenΔ/Δ) in the respiratory epithelial cells of the developing mouse lung caused epithelial cell proliferation and hyperplasia as early as 4 to 6 weeks of age. While bronchiolar cell differentiation was normal, as in...

  11. Metformin for endometrial hyperplasia: a Cochrane protocol.

    Science.gov (United States)

    Clement, Naomi S; Oliver, Thomas R W; Shiwani, Hunain; Saner, Juliane R F; Mulvaney, Caroline A; Atiomo, William

    2016-08-16

    Endometrial hyperplasia is a precancerous lesion of the endometrium, commonly presenting with uterine bleeding. If managed expectantly, it frequently progresses to endometrial carcinoma, rates of which are increasing dramatically worldwide. However, the established treatment for endometrial hyperplasia (progestogens) involves multiple side effects and leaves the risk of recurrence. Metformin is the most commonly used oral hypoglycaemic agent in type 2 diabetes mellitus. It has also been linked to the reversal of endometrial hyperplasia and may therefore contribute to decreasing the prevalence of endometrial carcinoma without the fertility and side effect consequences of current therapies. However, the efficacy and safety of metformin being used for this therapeutic target is unclear and, therefore, this systematic review will aim to determine this. We will search the following trials and databases with no language restrictions: Cochrane Gynaecology and Fertility Specialised Register; Cochrane Central Register of Controlled Trials (CENTRAL); MEDLINE; EMBASE; EBSCO Cumulative Index to Nursing and Allied Health Literature; PubMed; Google Scholar; ClinicalTrials.gov; the WHO International Trials Registry Platform portal; OpenGrey and the Latin American and Caribbean Health Sciences Literature (LILACS). We will include randomised controlled trials (RCTs) of use of metformin compared with a placebo or no treatment, conventional medical treatment (eg, progestogens) or any other active intervention. Two review authors will independently assess the trial eligibility, risk of bias and extract appropriate data points. Trial authors will be contacted for additional data. The primary review outcome is the regression of endometrial hyperplasia histology towards normal histology. Secondary outcomes include hysterectomy rate; abnormal uterine bleeding; quality of life scores and adverse reactions to treatments. Dissemination of the completed review will be through the Cochrane

  12. Saw palmetto for benign prostatic hyperplasia.

    Science.gov (United States)

    Bent, Stephen; Kane, Christopher; Shinohara, Katsuto; Neuhaus, John; Hudes, Esther S; Goldberg, Harley; Avins, Andrew L

    2006-02-09

    Saw palmetto is used by over 2 million men in the United States for the treatment of benign prostatic hyperplasia and is commonly recommended as an alternative to drugs approved by the Food and Drug Administration. In this double-blind trial, we randomly assigned 225 men over the age of 49 years who had moderate-to-severe symptoms of benign prostatic hyperplasia to one year of treatment with saw palmetto extract (160 mg twice a day) or placebo. The primary outcome measures were changes in the scores on the American Urological Association Symptom Index (AUASI) and the maximal urinary flow rate. Secondary outcome measures included changes in prostate size, residual urinary volume after voiding, quality of life, laboratory values, and the rate of reported adverse effects. There was no significant difference between the saw palmetto and placebo groups in the change in AUASI scores (mean difference, 0.04 point; 95 percent confidence interval, -0.93 to 1.01), maximal urinary flow rate (mean difference, 0.43 ml per minute; 95 percent confidence interval, -0.52 to 1.38), prostate size, residual volume after voiding, quality of life, or serum prostate-specific antigen levels during the one-year study. The incidence of side effects was similar in the two groups. In this study, saw palmetto did not improve symptoms or objective measures of benign prostatic hyperplasia. (ClinicalTrials.gov number, NCT00037154.). Copyright 2006 Massachusetts Medical Society.

  13. Bilateral tubercular mastitis

    Directory of Open Access Journals (Sweden)

    Kant Surya

    2007-01-01

    Full Text Available Breast tuberculosis is a rare form of tuberculosis. Moreover the disease is often overlooked and misdiagnosed as carcinoma or pyogenic abscess. Reports on breast tuberculosis from India have been few; reported incidence of breast tuberculosis amongst the total number of mammary conditions varies between 0.64 and 3.59 per cent. Bilateral involvement is still more uncommon (3%. Most accepted view for spread of infection is centripetal lymphatic spread as axillary node involvement was shown to occur in 50 to 75 per cent of cases of tubercular mastitis. Here we re-port a case of a young female who presented with draining sinuses in the breast and no axillary lymphadenopathy. Fine needle aspiration cytology (FNAC of breast lump showed evidence of granulomatous mastitis. She was given therapeutic trial of four drug antitubercular treatment. Both the lump disappeared and sinus healed after six months of antitubercular treatment. Thus a retrospective diagnosis of tu-bercular mastitis was made.

  14. Bilateral triple renal arteries

    International Nuclear Information System (INIS)

    Pestemalci, Turan; Yildiz, Yusuf Zeki; Yildirim, Mehmet; Mavi, Ayfer; Gumusburun, Erdem

    2009-01-01

    Knowledge of the variations of the renal artery has grown in importance with increasing numbers of renal transplants, vascular reconstructions and various surgical and radio logic techniques being performed in recent years. We report the presence of bilateral triple renal arteries, discovered on routine dissection of a male cadaver. On the right side, one additional renal artery originated from the abdominal aorta (distributed to superior pole of the kidney) and one other originated from the right common iliac artery (distributed to lower pole of the kidney). On the left side, both additional renal arteries originated from the abdominal aorta. Our observation has been compared with variations described in the literature and their clinical importance has been emphasized. (author)

  15. Idiopathic Bilateral Bloody Tearing

    Directory of Open Access Journals (Sweden)

    Emrullah Beyazyıldız

    2015-01-01

    Full Text Available Bloody tear is a rare and distinct clinic phenomenon. We report a case presenting with the complaint of recurrent episodes of bilateral bloody tearing. A 16-year-old girl presented to our clinic with complaint of bloody tearing in both eyes for 3 months. Bloody tearing was not associated with her menses. A blood-stained discharge from the punctum was not observed during the compression of both nasolacrimal ducts. Nasolacrimal passage was not obstructed. Imaging studies such as dacryocystography and gradient-echo magnetic resonance imaging (MRI of nasolacrimal canal were normal. Intranasal endoscopic evaluation was normal. We collected samples from bloody tears two times and pathological examination was performed. Pathological analysis showed lots of squamous cells and no endometrial cells; dysplastic cells were found. Further evaluations for underlying causes were unremarkable. No abnormalities were found in ophthalmologic, radiologic, and pathologic investigations. This condition is likely a rare abnormality and the least recognized aetiology for the idiopathic phenomenon.

  16. Bilateral Antepartum Mastitis

    Directory of Open Access Journals (Sweden)

    Peyman Alibeigi

    2010-12-01

    Full Text Available Antepartum mastitis is a rare condition, whereas postpartum orlactation mastitis is a common problem. This report introducesa case of complicated bilateral antepartum mastitis, which wastreated successfully by drain insertion and antibiotic therapy.The patient was a 23-year-old woman in the 23rd week of herfirst pregnancy. Her chief complaint was progressive swelling,redness and radicular pain in both breasts, which had beenstarted gradually from the 18th week of pregnancy. The patientwas admitted to hospital, and received oral and intravenous antibioticsempirically, which was not effective. The patient wastreated by drainage and oral antibiotic therapy. Based on theapproaches employed and the outcomes achieved it is suggestedthat early surgical insertion in the presence of fluid collection inantepartum mastitis will shorten hospitalization and course ofintravenous antibiotic therapy.Iran J Med Sci 2010; 35(4: 327-330.

  17. Factors predicting the duration of adrenal insufficiency in patients successfully treated for Cushing disease and nonmalignant primary adrenal Cushing syndrome.

    Science.gov (United States)

    Prete, Alessandro; Paragliola, Rosa Maria; Bottiglieri, Filomena; Rota, Carlo Antonio; Pontecorvi, Alfredo; Salvatori, Roberto; Corsello, Salvatore Maria

    2017-03-01

    Successful treatment of Cushing syndrome causes transient or permanent adrenal insufficiency deriving from endogenous hypercortisolism-induced hypothalamus-pituitary-adrenal-axis suppression. We analyzed pre-treatment factors potentially affecting the duration of adrenal insufficiency. We conducted a retrospective analysis on patients successfully treated for Cushing disease (15 patients) who underwent transsphenoidal surgery, and nonmalignant primary adrenal Cushing syndrome (31 patients) who underwent unilateral adrenalectomy, divided into patients with overt primary adrenal Cushing syndrome (14 patients) and subclinical primary adrenal Cushing syndrome (17 patients). Epidemiological data, medical history, and hormonal parameters depending on the etiology of hypercortisolism were collected and compared to the duration of adrenal insufficiency. The median duration of follow-up after surgery for Cushing disease and primary adrenal Cushing syndrome was 70 and 48 months, respectively. In the Cushing disease group, the median duration of adrenal insufficiency after transsphenoidal surgery was 15 months: younger age at diagnosis and longer duration of signs and symptoms of hypercortisolism before diagnosis and surgery were associated with longer duration of adrenal insufficiency. The median duration of adrenal insufficiency was 6 months for subclinical primary adrenal Cushing syndrome and 18.5 months for overt primary adrenal Cushing syndrome. The biochemical severity of hypercortisolism, the grade of hypothalamus-pituitary-adrenal-axis suppression, and treatment with ketoconazole before surgery accounted for longer duration of adrenal insufficiency. In patients with Cushing disease, younger age and delayed diagnosis and treatment predict longer need for glucocorticoid replacement therapy after successful transsphenoidal surgery. In patients with primary adrenal Cushing syndrome, the severity of hypercortisolism plays a primary role in influencing the duration of

  18. Adrenal hypoplasia congenita: a rare cause of primary adrenal insufficiency and hypogonadotropic hypogonadism

    Directory of Open Access Journals (Sweden)

    Marta Loureiro

    2015-09-01

    Full Text Available Primary adrenal insufficiency is defined by the impaired synthesis of adrenocortical hormones due to an intrinsic disease of the adrenal cortex. Determining its etiology is crucial to allow adequate long-term management and genetic counseling. We report the case of a male adolescent that presented in the neonatal period with adrenal crisis and received replacement therapy for primary adrenal insufficiency. During follow-up, adrenal hypoplasia congenita (AHC was suspected given his persistently raised adrenocorticotropic hormone levels, with markedly low 17-OH progesterone and androstenedione levels. DNA sequence analysis revealed a mutation in NR0B1 gene (c.1292delG, confirming the diagnosis. Delayed puberty and persistent low levels of gonadotropins led to testosterone replacement therapy. X-linked AHC is a rare cause of primary adrenal insufficiency and hypogonadotropic hypogonadism, related to mutations in NR0B1 gene. Despite its rarity, AHC should be considered in patients who present with primary adrenal failure, low levels of 17-OH progesterone and hypogonadotropic hypogonadism.

  19. What Are Some Types of Adrenal Gland Disorders?

    Science.gov (United States)

    ... until the adrenal glands start functioning normally again. Addison's Disease This rare disorder develops when the adrenal glands ... not make enough cortisol. In most cases of Addison's disease, the body also doesn't make enough of ...

  20. Spontaneous rupture of adrenal metastasis from hepatocellular carcinoma

    Energy Technology Data Exchange (ETDEWEB)

    Lim, Chae Hun; Kim, Hyun Jin; Park, Soo Youn; Hwang, Seong Su; Choi, Hyun Joo [St. Vincent Hospital, Suwon (Korea, Republic of)

    2007-03-15

    Rupture of adrenal tumor from various primary origins is a rather rare event. We report here on a ruptured adrenal metastasis from hepatocellular carcinoma, and this ruptured metastasis was observed at the time of the initial diagnosis.