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Sample records for classical congenital adrenal

  1. NonClassic Congenital Adrenal Hyperplasia

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    Azziz Ricardo

    2010-05-01

    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.

  2. Mistaken gender identity in non-classical congenital adrenal hyperplasia

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    Kukreti, Prerna; Kandpal, Manish; Jiloha, R.C.

    2014-01-01

    Gender identity is the sense of belonging that one feels for a particular sex psychologically and socially, independent of one's biological sex. There is much less systematic data on gender identity in females with congenital adrenal hyperplasia (CAH). We report a case of non-classical CAH presenting as a case of gender identity disorder.

  3. A case of androgen-secreting adrenal carcinoma with non-classical congenital adrenal hyperplasia

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    Tarun Varma

    2013-01-01

    Full Text Available Androgen excess is one of the most common and disturbing endocrine disorder of reproductive-aged women, affecting approximately 7% of this population Androgen excess results in the development of androgenic features in the women affected, with the development of hirsutism, androgenic alopecia, ovulatory dysfunction, and, if extreme, even virilization and masculinization. Adrenocortical carcinoma (ACC is a rare malignancy accounting for 0.02% of all annual cancers reported. About 60% are functional tumors secreting hormones, with its consequent clinical manifestations, the Cushing′s syndrome due to cortisone, virilization due to androgens, feminization due to estrogens, or hypertension due to aldosterone. Adrenal tumors that secrete androgens exclusively are extremely rare. Here, we present a rare case of androgen-secreting adrenocortical carcinoma with non-classical congenital adrenal hyperplasia.

  4. A case of androgen-secreting adrenal carcinoma with non-classical congenital adrenal hyperplasia.

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    Varma, Tarun; Panchani, Roopal; Goyal, Ashutosh; Maskey, Robin

    2013-10-01

    Androgen excess is one of the most common and disturbing endocrine disorder of reproductive-aged women, affecting approximately 7% of this population Androgen excess results in the development of androgenic features in the women affected, with the development of hirsutism, androgenic alopecia, ovulatory dysfunction, and, if extreme, even virilization and masculinization. Adrenocortical carcinoma (ACC) is a rare malignancy accounting for 0.02% of all annual cancers reported. About 60% are functional tumors secreting hormones, with its consequent clinical manifestations, the Cushing's syndrome due to cortisone, virilization due to androgens, feminization due to estrogens, or hypertension due to aldosterone. Adrenal tumors that secrete androgens exclusively are extremely rare. Here, we present a rare case of androgen-secreting adrenocortical carcinoma with non-classical congenital adrenal hyperplasia. PMID:24251173

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

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    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.

  6. Alternative Strategies for the Treatment of Classical Congenital Adrenal Hyperplasia: Pitfalls and Promises

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    Ali S. Calikoglu

    2010-01-01

    Full Text Available Despite decades of different treatment algorithms, the management of congenital adrenal hyperplasia (CAH remains clinically challenging. This is due to the inherent difficulty of suppressing adrenal androgen production using near physiological dosing of glucocorticoids (GC. As a result, alternating cycles of androgen versus GC excess can occur and may lead to short stature, obesity, virilization, and alterations in puberty. Novel therapeutic alternatives, including new and more physiological means of GC delivery, inhibitors at the level of CRH or ACTH secretion and/or action, as well as “rescue strategies”, such as GnRH analogs, anti-androgens, aromatase inhibitors, and estrogen receptor blockers, are available; many of these agents, however, still require active investigation in CAH. Bilateral adrenalectomy is effective but it is also still an experimental approach. Gene therapy and stem cells, to provide functional adrenal cortical tissue, are at preclinical stage but provide exciting avenues for a potential cure for CAH.

  7. Alternative Strategies for the Treatment of Classical Congenital Adrenal Hyperplasia: Pitfalls and Promises

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    Calikoglu AliS

    2010-06-01

    Full Text Available Despite decades of different treatment algorithms, the management of congenital adrenal hyperplasia (CAH remains clinically challenging. This is due to the inherent difficulty of suppressing adrenal androgen production using near physiological dosing of glucocorticoids (GC. As a result, alternating cycles of androgen versus GC excess can occur and may lead to short stature, obesity, virilization, and alterations in puberty. Novel therapeutic alternatives, including new and more physiological means of GC delivery, inhibitors at the level of CRH or ACTH secretion and/or action, as well as "rescue strategies", such as GnRH analogs, anti-androgens, aromatase inhibitors, and estrogen receptor blockers, are available; many of these agents, however, still require active investigation in CAH. Bilateral adrenalectomy is effective but it is also still an experimental approach. Gene therapy and stem cells, to provide functional adrenal cortical tissue, are at preclinical stage but provide exciting avenues for a potential cure for CAH.

  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. 150 years of congenital adrenal hyperplasia: translation and commentary of De Crecchio's classic paper from 1865.

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    Delle Piane, Luisa; Rinaudo, Paolo F; Miller, Walter L

    2015-04-01

    In 1865, Luigi De Crecchio, a Neapolitan pathologist, published a detailed autopsy description of Giuseppe Marzo, who lived as a man, had nearly-normal appearing male external genitalia, female internal reproductive organs, and massively enlarged adrenals. This report is widely cited as the first report of non-salt-losing congenital adrenal hyperplasia (CAH), but a complete English translation has not been available. Via interlibrary loan, we obtained the original volume containing De Crecchio's paper. The complete 39-page publication was translated by two reproductive endocrinologists (L.D.P. and P.F.R.) who are native speakers of Italian. A pediatric endocrinologist conversant with CAH (W.L.M.) summarizes and comments on De Crecchio's observations. Anatomically, the external genitalia were characterized by labio-scrotal fusion and a 10-cm curved phallus with hypospadias. Internally, the ovaries, tubes, and uterus were hypoplastic but otherwise normal, except that the uterus inserted into a utricle. The adrenals were massively enlarged, but this observation was dismissed as unimportant. De Crecchio's exposition of Marzo's life shows many of the issues affecting patients today: family ill-ease regarding genital ambiguity at birth, social pressure following reversed sex assignment in childhood, adult embarassment about genital appearance, difficulties with a legal sex assignment on a birth certificate, and substantial efforts to exhibit maleness to self and associates. De Crecchio was an astute observer who provides insight into both nineteenth-century endocrinology and continuing twenty-first-century difficulties in the care of patients with disordered sex development. PMID:25635623

  10. 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. PMID:25427061

  11. Congenital adrenal hyperplasia: Case report.

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    Jaime Avaria E.

    2013-04-01

    Full Text Available 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 androgen excess and insufficiency of cortisol and mineralocorticoids. So this may manifest as a sex differentiation disorder (virilization of the external genitalia if the fetus is female and adrenal insufficiency. For diagnosis are considered the family history, clinical manifestations, measuring 17-hydroxyprogesterone levels and detection of genetic alteration. CASE REPORT: Patient with a family history of a brother with HSC brother, born with a disorder of sexual differentiation and is discharged with legal male sex. After three months develops adrenal insufficiency and was diagnosed with classical HSC salt-wasting form and determined female karyotype. DISCUSSION: The Pillars of the HSC are handling genetic counseling in families at risk, prenatal treatment with dexamethasone, postnatal glucocorticoid therapy and surgical treatment of disorders of the external genitalia, along with new research based therapy gene and the use of stem cells, requiring this way an integral view of HSC.

  12. Normal Ovarian Structure and Function with Normal Glucose Tolerance in Girls with Early Treatment of Classic Congenital Adrenal Hyperplasia

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    Fleischman, Amy; Paltiel, Harriet; Chow, Jeanne; Ringelheim, Julie; Gordon, Catherine M.

    2007-01-01

    Hyperandrogenism and hyperinsulinism have both been suggested as etiologic factors behind functional ovarian hyperandrogenism or polycystic ovary syndrome. Females with congenital adrenal hyperplasia provide a clinical model to evaluate the contribution of pre- and post-natal hyperandrogenism on ovarian structure and function.

  13. Successful pregnancy after the treatment of primary amenorrhea in a patient with non-classical congenital adrenal hyperplasia.

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    Purwana, Indri N; Kanasaki, Haruhiko; Oride, Aki; Miyazaki, Kohji

    2013-01-01

    We describe a case of non-classical congenital adrenal hyperplasia (NCCAH) due to 21-hydroxylase deficiency in a 30-year-old Japanese woman who achieved pregnancy after treatment of primary amenorrhea. Hirsutism and clitoromegaly were present. Ultrasound examination showed polycystic appearance of the ovary. Luteinizing hormone-releasing hormone (LH-RH) test resulted in exaggerated LH response, showing a polycystic ovary syndrome (PCOS) pattern. The diagnosis was based on the elevated intial levels of 17-hydroxyprogesterone (55 ng/mL) and dihydroepiandosterone (7780 ng/mL). The first withdrawal bleeding occurred within 6 weeks after treatment with hydrocortisone (20 mg/day) combined with conjugated estrogens (1.25 mg/day) and medroxyprogesterone acetate (10 mg/day), which were continued for five courses. The bleeding remained cyclic every 28 days with maintenance doses of hydrocortisone. Subsequently, ovulation was induced using clomiphene citrate (100 mg/day). Pregnancy was achieved at the second attempt of ovulation induction and was within 10 months after initial presentation. Continuing hydrocortisone, the patient delivered a healthy baby at term. PMID:22672538

  14. Correlation of biochemical markers and clinical signs of hyperandrogenism in women with polycystic ovary syndrome (PCOS) and women with non-classic congenital adrenal hyperplasia (NCAH)

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    Nana Kvashilava; Jenara Kristesashvili; Diana Chanukvadze

    2012-01-01

    Background: Polycystic ovary syndrome (PCOS) is the most common cause of hyperandrogenism in women. Non-classic congenital adrenal hyperplasia (NCAH) is very close to PCOS. The diagnosis of hyperandrogenism is not based on the finding of decreased or increased levels of a single hormone. Objective: In our paper, we are going to test correlation between clinical signs and biochemical markers of hyperandrogenism. Materials and Methods: In this prospective study, we calculated free testosterone ...

  15. Management of adolescents with congenital adrenal hyperplasia

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    Merke, Deborah P.; Poppas, Dix P.

    2013-01-01

    The management of congenital adrenal hyperplasia involves suppression of adrenal androgen production, in addition to treatment of adrenal insufficiency. Management of adolescents with congenital adrenal hyperplasia is especially challenging because changes in the hormonal milieu during puberty can lead to inadequate suppression of adrenal androgens, psychosocial issues often affect adherence to medical therapy, and sexual function plays a major part in adolescence and young adulthood. For the...

  16. The Effect of Simvastatin on Plasma Steroid Hormone Levels in Metformin-Treated Women with Non-Classic Congenital Adrenal Hyperplasia.

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    Krysiak, R; Kowalcze, K; Bednarska-Czerwińska, A; Okopień, B

    2016-04-01

    Non-classic congenital adrenal hyperplasia (NC-CAH), one of the most common genetic disorders, is often associated with the presence of hyperandrogenism. Recently both simvastatin and metformin were found to reduce plasma steroid hormone levels in this disorder. This study included 8 women with NC-CAH and diabetes or impaired glucose tolerance, as well as 12 matched women with similar glucose metabolism abnormalities but normal adrenal function. Both groups of women, receiving metformin for at least 6 months, were then treated with simvastatin (20 mg daily) for the following 12 weeks. Compared to patients with normal adrenal function, metformin-treated women with NC-CAH showed increased plasma levels of 17-hydroxyprogesterone, total testosterone, free testosterone, androstenedione and DHEA-S. Simvastatin reduced total and LDL cholesterol levels in both patients with NC-CAH and normal adrenal function. Moreover, in the former group of women, statin therapy decreased plasma levels of testosterone, free testosterone, androstenedione, dehydroepiandrosterone sulphate and tended to reduce 17-hydroxyprogesterone. Our results suggest that metformin-statin combination therapy may be useful in the management of symptomatic women with NC-CAH. PMID:26824284

  17. Blood Pressure and Left Ventricular Characteristics in Young Patients with Classical Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency

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    Graziamaria Ubertini

    2009-01-01

    Full Text Available High steroid doses are often necessary in congenital adrenal hyperplasia (CAH to suppress androgens and may increase blood pressure (BP. We evaluated 24-hour BP profile (ambBP, BP during exercise (excBP, and echocardiography in 20 young CAH patients. Systolic and diastolic BP during ambBP and excBP was normal in all patients. None presented myocardial hypertrophy. Nocturnal diastolic BP was affected by testosterone (P: .016, 95% CI: 0.002 to 0.021, β = 0.01. Left ventricular mass (LVM was affected by height SDS (P: .007, 95% CI: 2.67 to 14.17, β = 8.42, age (P: <.0001, 95% CI: 2.12 to 5.82, β = 3.97, and testosterone (P: .008, 95% CI: 0.01 to 0.09, β = 0.053. Left ventricular mass index (LVMI correlated with BMI SDS (P: .044, 95% CI: 0.09 to 6.17, β = 3.13 and testosterone (P: .031, 95% CI: 0.002 to 0.035, β = 0.018. Hydrocortisone dose did not influence ambBP, excBP, or myocardial hypertrophy.

  18. Blood Pressure and Left Ventricular Characteristics in Young Patients with Classical Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency

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    Ubertini Graziamaria

    2010-01-01

    Full Text Available High steroid doses are often necessary in congenital adrenal hyperplasia (CAH to suppress androgens and may increase blood pressure (BP. We evaluated 24-hour BP profile (ambBP, BP during exercise (excBP, and echocardiography in 20 young CAH patients. Systolic and diastolic BP during ambBP and excBP was normal in all patients. None presented myocardial hypertrophy. Nocturnal diastolic BP was affected by testosterone (: .016, 95% CI: 0.002 to 0.021, = 0.01. Left ventricular mass (LVM was affected by height SDS (: .007, 95% CI: 2.67 to 14.17, = 8.42, age (: , 95% CI: 2.12 to 5.82, = 3.97, and testosterone (: .008, 95% CI: 0.01 to 0.09, = 0.053. Left ventricular mass index (LVMI correlated with BMI SDS (: .044, 95% CI: 0.09 to 6.17, = 3.13 and testosterone (: .031, 95% CI: 0.002 to 0.035, = 0.018. Hydrocortisone dose did not influence ambBP, excBP, or myocardial hypertrophy.

  19. Ultrasonographi assessment of congenital adrenal masses

    International Nuclear Information System (INIS)

    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

  20. Puberty and fertility in congenital adrenal hyperplasia.

    NARCIS (Netherlands)

    Otten, B.J.; Stikkelbroeck, M.M.L.; Claahsen-van der Grinten, H.L.; Hermus, A.R.M.M.

    2005-01-01

    Congenital adrenal hyperplasia (CAH) is a disorder of adrenal steroid synthesis. The symptoms and signs of CAH depend on the degree of enzyme deficiency; severe salt-wasting (SW) form, less severe simple virilizing (SV) form and mild nonclassic (NC) form. In this paper, puberty and fertility in CAH

  1. Salivary morning androstenedione and 17alpha-OH progesterone levels in childhood and puberty in patients with classic congenital adrenal hyperplasia

    NARCIS (Netherlands)

    Groot, M.J. de; Pijnenburg-Kleizen, K.J.; Thomas, C.M.G.; Sweep, F.C.; Stikkelbroeck, N.; Otten, B.J.; Claahsen-van der Grinten, H.L.

    2015-01-01

    BACKGROUND: Treatment of congenital adrenal hyperplasia due to 21-hydroxylase deficiency can be monitored by salivary androstenedione (A-dione) and 17alpha-hydroxyprogesterone (17OHP) levels. There are no objective criteria for setting relevant target values or data on changes of 17OHP and A-dione d

  2. A case of congenital lipoid adrenal hyperplasia

    OpenAIRE

    Mahin Hashemipour; Mahmoud Ghasemi; Silva Hovsepian

    2012-01-01

    Lipoid congenital adrenal hyperplasia (lipoid CAH), a rare disorder of steroid biosynthesis, is the most severe form of CAH. In this disorder the synthesis of glucocorticoids, mineralocorticoids and sex steroids is impaired which result in adrenal failure, severe salt wasting crisis and hyperpigmentation in phenotypical female infants irrespective of genetic sex. In this report, we presented a 28-day-old phenotypic female infant, which referred with lethargy, failure to thrive and electrolyte...

  3. A Case of Congenital Lipoid Adrenal Hyperplasia

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    Hashemipour, Mahin; Ghasemi, Mahmoud; Hovsepian, Silva

    2012-01-01

    Lipoid congenital adrenal hyperplasia (lipoid CAH), a rare disorder of steroid biosynthesis, is the most severe form of CAH. In this disorder the synthesis of glucocorticoids, mineralocorticoids and sex steroids is impaired which result in adrenal failure, severe salt wasting crisis and hyperpigmentation in phenotypical female infants irrespective of genetic sex. In this report, we presented a 28-day-old phenotypic female infant, which referred with lethargy, failure to thrive and electrolyte...

  4. Salt Losing Variety of Congenital Adrenal Hyperplasia - A Case Report.

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    Nahar, N; Dey, A C; Khan, K A; Dey, S K; Mannan, M A; Shahidullah, M

    2016-01-01

    Congenital adrenal hyperplasia is a genetic endocrinologic disorder. The severe classic form occurs in one in 15,000 births worldwide. Twenty-one-hydroxylase deficiency (21-OHD) is the most common cause in this autosomal recessive disease. It can cause virilization, ambiguous genitalia at birth and severe life threatening condition due to salt wasting. In this report we describe the clinical course of a male neonate presenting with lethargy, failure to thrive (FTT), genital pigmentation, electrolytes imbalance and high serum 17-hydroxy-progesterone (17-OHP) level and subsequently diagnosed as Congenital Adrenal Hyperplasia. After the initial crises management, the child was continued on replacement therapy. During the follow up, he was found to grow appropriately and achieving normal milestones for age. PMID:26931272

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

    International Nuclear Information System (INIS)

    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

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

    International Nuclear Information System (INIS)

    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.

  7. 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.

  8. Novel Systematics of Nomenclature and Classification of Female Functional Androgenization (Including Polycystic Ovary Syndrome and Non-Classic Congenital Adrenal Hyperplasia

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    Geisthövel F

    2010-01-01

    Full Text Available Objective: A novel nomenclature as well as a comprehensive, clearly defined classification of functional androgenization (FA from puberty well into postmenopause have been developed. Data are presented indicating the applicability of this algorithm. Design: Retrospective case-control study involving FA-patients, and controls (C. Methods: FA-patients were classified into five groups, functional cutaneous androgenization (FCA: skin as well as functional androgenizing syndrome (FAS I (ovary, II (adrenal, III (multi-organ-disorder with FA, obesity, hyperinsulinaemia and IV (residual FA dysfunctions using group-specific variable clusters. They are set up by primary (classifying variables such as cutaneous androgenetic symptoms (acne vulgaris, hirsutism, androgenetic alopecia, body mass index (BMI, testosterone, free androgen index (FAI, polyfollicular ovaries (PFOs, and 1-h-insulin (after oral glucose loading. Groups FCA and FAS I–III were sub-classified through classic full-blown (“a” and non-classic, minimum standard core/miscellaneous clusters (“b”. Variables were allocated as integral part of different clusters (e.g. enhanced BMI: in FCAb, FAS IIb, FAS IIIa/b, and FAS IV. Patients’ complete characterization was achieved additionally by using secondary (facultative variables, e.g. triglycerid levels. Results: The FA-groups included 6, 33, 10, 59, and 18 subjects. All FCA-patients presented cutaneous androgenetic symptoms, PFOs were visualized in all FAS I and III patients. Group FAS Ia showed highest LH levels, and testosterone was higher in FAS I vs. FCA, FAS II, FAS IV and C. Levels of DHEAS were found to be highest in group FAS II. BMI and triglycerids were higher in FAS III vs. FCA, FAS I, FAS II, and C, and one-hr-insulin in FAS III was higher vs. FCA, FAS I, and C. In FAS IV covering the residual FA-patients, several obese, hyperinsulinaemic individuals were classified who showed an increased FAI without the presence of PFOs

  9. Early Hormonal Influences on Cognitive Functioning in Congenital Adrenal Hyperplasia.

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    Resnick, Susan M.; And Others

    1986-01-01

    Reports the results of cognitive test performance and early childhood activities in individuals with congenital adrenal hyperplasia, an autosomal recessive disorder associated with elevated prenatal adrenal androgen levels, demonstrating the effects of early exposure to excess androgenizing hormones on sexually dimorphic cognitive functioning.…

  10. Amygdala Function In Adolescents With Congenital Adrenal Hyperplasia: A Model For The Study Of Early Steroid Abnormalities

    OpenAIRE

    Ernst, Monique; Maheu, Françoise S.; Schroth, Elizabeth; Hardin, Julie; Golan, Liza Green; Cameron, Jennifer; Allen, Rachel; Holzer, Stuart; Nelson, Eric; Pine, Daniel S.; Merke, Deborah P.

    2007-01-01

    Early disruption of steroids affects the development of mammalian neural circuits underlying affective processes. In humans, patients with classic Congenital Adrenal Hyperplasia (CAH) can serve as a natural model to study early hormonal alterations on functional brain development. CAH is characterized by congenital glucocorticoid insufficiency, leading to altered hypothalamic-pituitary-adrenal (HPA) function, and hyperandrogenism. Using fMRI, we compared fourteen adolescents with CAH to 14 he...

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

    International Nuclear Information System (INIS)

    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

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

    Science.gov (United States)

    ... for congenital adrenal hyperplasia (CAH)? Skip sharing on social media links Share this: Page Content Treatments for CAH ... medically stable, Parents are fully informed of the risks and benefits, ... find a psychologist, social worker, or other mental health professional to support ...

  13. 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)

  14. The next 150 years of congenital adrenal hyperplasia.

    Science.gov (United States)

    Turcu, Adina F; Auchus, Richard J

    2015-09-01

    Congenital adrenal hyperplasias (CAH) are a group of autosomal recessive defects in cortisol biosynthesis. Substantial progress has been made since the description of the first report, 150 years ago. This article reviews some of the recent advances in the genetics, diagnosis and treatment of CAH. In addition, we underline the aspects where further progress is required, including, among others, better diagnostic modalities for the mild phenotype and for some of the rare forms of disease, elucidation of epigenetic factors that lead to different phenotypes in patients with identical genotype and expending on treatment options for controlling the adrenal androgen excess. PMID:26047556

  15. Rare and severe complications of congenital adrenal hyperplasia due to 21-hydroxylase deficiency: a case report

    Directory of Open Access Journals (Sweden)

    Ferreira Florbela

    2013-02-01

    Full Text Available Abstract Introduction We report the case of a patient with classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency who presented with unusual anatomical and biochemical features, namely massively enlarged adrenal glands, adrenogenital rest tissue and an unexpected endocrine profile. The contribution of the adrenocortical cells in the adrenals and testicles was determined by a cosyntropin stimulation test before and after adrenalectomy. To the best of our knowledge this is the first report of such a case in the literature. Case presentation A 35-year-old Caucasian man was admitted to the emergency room with an Addisonian crisis. He had been diagnosed with congenital adrenal hyperplasia in the neonatal period. He acknowledged poor adherence to treatment and irregular medical assistance. Physical examination revealed marked cutaneous and gingival hyperpigmentation, hypotension, and hard nodules in the upper pole of both testicles. Blood analysis showed mild anemia and hyponatremia and no evidence of acute infection. Endocrine evaluation showed very low cortisol levels, low dehydroepiandrosterone-sulfate and elevated corticotropin, 11-deoxycortisol and delta-4-androstenedione. The concentration of 17-hydroxyprogesterone was 20,400ng/dL. After the cosyntropin stimulation test the pattern was similar and there was no significant increase in cortisol or 17-hydroxyprogesterone. The abdominal computed tomography scan revealed grossly enlarged and heterogeneous adrenal glands (left, 12cm; and right, six cm. A bilateral adrenalectomy was performed and pathologic examination revealed adrenal myelolipomas with nodular cortical hyperplasia. The sonogram showed bilateral heterogeneous masses on the upper pole of both testes which corresponded to the nodular hyperplasia of adrenal rest tissues. The genetic study revealed compound heterozigoty (mutations R124H and R356W, suggestive of a phenotypically moderate disease. We performed a

  16. Prenatal treatment of congenital adrenal hyperplasia: risks outweigh benefits.

    Science.gov (United States)

    Miller, Walter L; Witchel, Selma Feldman

    2013-05-01

    Prenatal treatment of congenital adrenal hyperplasia by administering dexamethasone to a woman presumed to be carrying an at-risk fetus has been described as safe and effective in several reports. A review of data from animal experimentation and human trials indicates that first-trimester dexamethasone decreases birthweight; affects renal, pancreatic beta cell, and brain development; increases anxiety; and predisposes to adult hypertension and hyperglycemia. In human studies, first-trimester dexamethasone is associated with orofacial clefts, decreased birthweight, poorer verbal working memory, and poorer self-perception of scholastic and social competence. Numerous medical societies have cautioned that prenatal treatment of congenital adrenal hyperplasia with dexamethasone should only be done in prospective clinical research settings with institutional review board approval, and therefore is not appropriate for routine community practice. PMID:23123167

  17. Congenital adrenal hyperplasia due to 21 hydroxylase deficiency: Case report

    Directory of Open Access Journals (Sweden)

    Vlaški Jovan

    2008-01-01

    Full Text Available A girl with congenital adrenal hyperplasia due to 21 hydroxylase (CYP 21, p450c2l deficiency is the reviewed case. The clinical features (virilisation, clitoromegaly, rapid somatic growth, accelerated skeletal maturation and laboratory find­ings (high levels of plasma 17hydroxyprogesterone, corticotrophin - ACTH, testosterone and dehydroepiandrostenedione -DHEA, low level of plasma cortisol, high level of urine 17- ketosteroids, synacthen and luteinising hormone releasing hor­mone - LHRH test and the response to hydrocortisone therapy pointed at heterosexual gonadotrophin independent puberty due to irregular production of cortisol caused by 21 hydroxylase deficiency that leads to elevated ACTH and 17-hydroxy progesterone secretion and makes congenital adrenal hyper­plasia as entity. The six-month therapy resulted in the clinical and laboratory findings improvement, such as the decreased annual growth of body height and the stagnation in the devel­opment of the secondary sexual features.

  18. Nonclassic congenital adrenal hyperplasia misdiagnosed as Turner syndrome

    OpenAIRE

    Mishra, Vineet V; Kumari Pritti; Rohina Aggarwal; Sumesh Choudhary

    2015-01-01

    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 dur...

  19. Congenital adrenal hyperplasia, CYP21 deficiency, screening and clinical aspects

    OpenAIRE

    Nordenström, Anna

    2001-01-01

    Congenital adrenal hyperplasia (CAH) is a group of recessively inherited disorders. More than 90% of all cases of CAB are caused by 21-hydroxylase deficiency. This enzyme deficiency results in reduced ability to synthesize cortisol and aldosterone and at the same time increased secretion of androgens. There is a wide spectrum of severity of the disease. The most severe forms of CAH are life-threatening, with the risk of a salt crisis in the neonatal period. CAH has special i...

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

    OpenAIRE

    Stout, Stephanie A.; Margarita Litvak; Robbins, Natashia M.; Sandberg, David E

    2010-01-01

    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 ...

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

    OpenAIRE

    Sandberg DavidE; Robbins NatashiaM; Litvak Margarita; Stout StephanieA

    2010-01-01

    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...

  2. A Rare Combination: Congenital Adrenal Hyperplasia Due To 21 Hydroxylase Deficiency and Turner Syndrome

    OpenAIRE

    Peltek Kendirci, Havva Nur; Aycan, Zehra; Çetinkaya, Semra; Baş, Veysel Nijat; Ağladıoğlu, Sebahat Yılmaz; Önder, Aşan

    2012-01-01

    A combination of Turner syndrome (TS) and classical congenital adrenal hyperplasia (CAH) is rare. A one-day-old newborn was referred to our hospital with ambiguous genitalia. The parents were third-degree relatives. The infant’s weight was 3350g (50-75p), and the head circumference was 34.5cm (50p). The gonads were nonpalpable. Presence of a 3 cm phallus, one urogenital opening into the perineum, and incomplete labial fusion were identified. Laboratory tests revealed a classical type of CAH d...

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

    Directory of Open Access Journals (Sweden)

    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.

  4. Newborn screening for congenital adrenal hyperplasia in New York State

    Directory of Open Access Journals (Sweden)

    Melissa Pearce

    2016-06-01

    Full Text Available From 2007 to 2014 the New York State (NYS Newborn Screening (NBS program screened 2 million newborns for congenital adrenal hyperplasia (CAH. The data was analyzed to determine factors that affect 17α-hydroxyprogesterone levels and assist in developing algorithm changes that would improve the positive predictive value of the methodology being used. The concentration of 17-OHP in dried blood spots was measured using the AutoDELFIA Neonatal 17-OHP kit (Perkin Elmer, Turku, Finland. During the 8 year period of this study 2476 babies were referred, 105 babies were diagnosed with CAH (90 with the salt-wasting (SW, 8 with simple virilizing (SV, 5 with non-classical CAH, and 2 with another enzyme deficiency and, 14 with possible CAH. Three false negative cases with SV-CAH were reported to the program. Of the total 108 known cases, 74 (69% infants were detected by newborn screening in the absence of clinical information, or, known family history. The incidence of CAH in NYS is 1 in 18,170 with a ratio of SW to SV of 8.2:1. The incidence of CAH is lower in Black infants than in White, Hispanic and Asian infants. Despite a lower mean birth weight, female infants have a lower mean 17-OHP value than male infants and are under-represented in the referred category. As per other NBS programs the false positive rate is exacerbated by prematurity/low birth weight and by over-early specimen collection.

  5. Newborn screening for congenital adrenal hyperplasia in New York State.

    Science.gov (United States)

    Pearce, Melissa; DeMartino, Lenore; McMahon, Rebecca; Hamel, Rhonda; Maloney, Breanne; Stansfield, Daniele-Marisa; McGrath, Emily C; Occhionero, Amanda; Gearhart, Adam; Caggana, Michele; Tavakoli, Norma P

    2016-06-01

    From 2007 to 2014 the New York State (NYS) Newborn Screening (NBS) program screened 2 million newborns for congenital adrenal hyperplasia (CAH). The data was analyzed to determine factors that affect 17α-hydroxyprogesterone levels and assist in developing algorithm changes that would improve the positive predictive value of the methodology being used. The concentration of 17-OHP in dried blood spots was measured using the AutoDELFIA Neonatal 17-OHP kit (Perkin Elmer, Turku, Finland). During the 8 year period of this study 2476 babies were referred, 105 babies were diagnosed with CAH (90 with the salt-wasting (SW), 8 with simple virilizing (SV), 5 with non-classical CAH, and 2 with another enzyme deficiency) and, 14 with possible CAH. Three false negative cases with SV-CAH were reported to the program. Of the total 108 known cases, 74 (69%) infants were detected by newborn screening in the absence of clinical information, or, known family history. The incidence of CAH in NYS is 1 in 18,170 with a ratio of SW to SV of 8.2:1. The incidence of CAH is lower in Black infants than in White, Hispanic and Asian infants. Despite a lower mean birth weight, female infants have a lower mean 17-OHP value than male infants and are under-represented in the referred category. As per other NBS programs the false positive rate is exacerbated by prematurity/low birth weight and by over-early specimen collection. PMID:27331001

  6. Concurrence of Meningomyelocele and Salt-Wasting Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency.

    Science.gov (United States)

    Kırmızıbekmez, Heves; Yesiltepe Mutlu, Rahime Gül; Moralıoğlu, Serdar; Tellioğlu, Ahmet; Cerrah Celayir, Ayşenur

    2015-01-01

    Congenital adrenal hyperplasia (CAH) is a group of inherited defects of cortisol biosynthesis. A case of classical CAH due to 21-hydroxylase deficiency (21-OHD) with early onset of salt waste and concurrence of meningomyelocele (MMC) was presented here. The management of salt-wasting crisis which is complicated by a postrenal dysfunction due to neurogenic bladder was described. Possible reasons of growth retardation in the one-year follow-up period were discussed. A significant regression of the phallus with proper medical treatment was also mentioned. PMID:25685584

  7. Fetal endocrine therapy for congenital adrenal hyperplasia should not be done.

    Science.gov (United States)

    Miller, Walter L

    2015-06-01

    Prenatal treatment of congenital adrenal hyperplasia by administering dexamethasone to a woman presumed to be carrying an at-risk fetus remains a controversial experimental treatment. Review of data from animal experimentation and human trials indicates that dexamethasone cannot be considered safe for the fetus. In animals, prenatal dexamethasone decreases birth weight, affects renal, pancreatic beta cell and brain development, increases anxiety and predisposes to adult hypertension and hyperglycemia. In human studies, prenatal dexamethasone is associated with orofacial clefts, decreased birth weight, poorer verbal working memory, and poorer self-perception of scholastic and social competence. Numerous medical societies have cautioned that prenatal treatment of adrenal hyperplasia with dexamethasone is not appropriate for routine clinical practice and should only be done in Institutional Review Board approved, prospective clinical research settings with written informed consent. The data indicate that this treatment is inconsistent with the classic medical ethical maxim to 'first do no harm'. PMID:26051303

  8. Testicular adrenal rest tumors in a patient with untreated congenital adrenal hyperplasia

    Directory of Open Access Journals (Sweden)

    Hye Young Jin

    2011-03-01

    Full Text Available Testicular adrenal rest tumors (TARTs are considered to be formed from aberrant adrenal tissue that has become hyperplastic because of elevated adrenocorticotropic hormone (ACTH in male patients with congenital adrenal hyperplasia (CAH. A 6-year-old boy presented with testicular enlargement and pubic hair. He was diagnosed with CAH complicated by precocious puberty. However, he was not followed-up. At the age of 17, he visited the outpatient clinic because of testicular enlargement and short stature. His right and left testicles were 10×6 cm and 7.5×4.5 cm, respectively. His height was 155.1 cm (standard deviation score [SDS], -2.90. The diagnosis of CAH due to 21 hydroxylase deficiency was confirmed by mutation analysis of CYP21A2. Histological examination of the testes showed large, polygonal, eosinophilic cells with round nuclei and prominent nucleoli, which were suggestive of TARTs. He was treated with dexamethasone for 3 weeks and tumors regressed. Subsequently, dexamethasone was replaced by prednisolone and 9?#7014;ludrocortisone; thereafter, the reduced testis size has been maintained.

  9. Estudo comparativo do uso de prednisolona versus acetato de hidrocortisona no tratamento da hiperplasia adrenal congênita por deficiência da 21-hidroxilase forma clássica Comparative study of prednisolone versus hydrocortisone acetate for treatment of patients with the classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency

    Directory of Open Access Journals (Sweden)

    Flavia M. Leite

    2008-02-01

    Full Text Available O tratamento da hiperplasia adrenal congênita (HAC por deficiência da 21-hidroxilase forma clássica é habitualmente realizado com acetato de hidrocortisona. A hidrocortisona oral, em nosso meio, só está disponível em farmácias de manipulação. A prednisolona possui solução oral estável, comercialmente disponível, e tem como vantagem poder ser utilizada em dose única diária. O objetivo desse estudo foi comparar a eficácia da prednisolona aos resultados obtidos com o acetato de hidrocortisona. Foram estudados 15 pacientes, idade cronológica média (DP de 7,2 anos (3,6, em dois períodos consecutivos de um ano, inicialmente utilizando a hidrocortisona (17,5 mg/m²/dia, divididos em três doses, seguida do uso de prednisolona (3 mg/m²/dia, dose única matinal. A avaliação dos tratamentos foi realizada por meio das variações do escore Z de estatura para idade cronológica (deltaZE, do escore Z de estatura para a idade óssea (deltaZEIO e do escore Z do Índice de massa corporal (IMC (deltaZIMC, bem como os valores da androstenediona em cada período. Não houve diferença na deltaZE, na deltaZEIO e na deltaZIMC entre os dois períodos, assim como nos valores de androstenediona. Concluiu-se que a prednisolona em dose única diária apresenta eficácia semelhante à obtida com a hidrocortisona utilizada três vezes ao dia, podendo ser considerada uma opção terapêutica nos pacientes com HAC por deficiência da 21-hidroxilase.Hydrocortisone acetate is usually employed in the treatment of classic congenital adrenal hyperplasia (CAH due to 21-hydroxylase deficiency. In Brazil, however, oral hydrocortisone acetate is only available from manipulation pharmacies. Prednisolone has stable oral pharmaceutical formulations commercially available, with the advantage of a single daily dose. The aim of this study was to compare the efficacy of oral prednisolone and oral hydrocortisone in the treatment of CAH due to 21-hydroxylase deficiency

  10. 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.

  11. Genetics Home Reference: congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency

    Science.gov (United States)

    ... Intersex Society of North America MalaCards: adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency March of Dimes: Genital and Urinary Tract Defects Merck Manual Consumer Version: The Body's Control ...

  12. Genotype-Phenotype Analysis in Congenital Adrenal Hyperplasia due to P450 Oxidoreductase Deficiency

    NARCIS (Netherlands)

    Krone, Nils; Reisch, Nicole; Idkowiak, Jan; Dhir, Vivek; Ivison, Hannah E.; Hughes, Beverly A.; Rose, Ian T.; O'Neil, Donna M.; Vijzelaar, Raymon; Smith, Matthew J.; MacDonald, Fiona; Cole, Trevor R.; Adolphs, Nicolai; Barton, John S.; Blair, Edward M.; Braddock, Stephen R.; Collins, Felicity; Cragun, Deborah L.; Dattani, Mehul T.; Day, Ruth; Dougan, Shelley; Feist, Miriam; Gottschalk, Michael E.; Gregory, John W.; Haim, Michaela; Harrison, Rachel; Olney, Ann Haskins; Hauffa, Berthold P.; Hindmarsh, Peter C.; Hopkin, Robert J.; Jira, Petr E.; Kempers, Marlies; Kerstens, Michiel N.; Khalifa, Mohamed M.; Koehler, Birgit; Maiter, Dominique; Nielsen, Shelly; O'Riordan, Stephen M.; Roth, Christian L.; Shane, Kate P.; Silink, Martin; Stikkelbroeck, Nike M. M. L.; Sweeney, Elizabeth; Szarras-Czapnik, Maria; Waterson, John R.; Williamson, Lori; Hartmann, Michaela F.; Taylor, Norman F.; Wudy, Stefan A.; Malunowicz, Ewa M.; Shackleton, Cedric H. L.; Arlt, Wiebke; Smith, M.J.

    2012-01-01

    Context: P450 oxidoreductase deficiency (PORD) is a unique congenital adrenal hyperplasia variant that manifests with glucocorticoid deficiency, disordered sex development (DSD), and skeletal malformations. No comprehensive data on genotype-phenotype correlations in Caucasian patients are available.

  13. Poor Response to Substitution Therapy with Cortisone Acetate in Patients with Congenital Adrenal Hyperplasia

    OpenAIRE

    Inada, Hiroshi; Imamura, Takuji; Nakajima, Ryoichi; Yamano, Tsunekazu

    2004-01-01

    Although cortisone acetate is approved worldwide as corticosteroid substitution therapy in congenital adrenal hyperplasia (21-hydroxylase deficiency), its effectiveness is uncertain since its biologic activity depends on activation by 11β-hydroxysteroid dehydrogenase (11β-HSD). We sought to compare the effect of cortisone acetate with that of hydrocortisone. In 10 patients with congenital adrenal hyperplasia, cortisone acetate was replaced with hydrocortisone in substitution therapy. During t...

  14. Severity of Virilization Is Associated with Cosmetic Appearance and Sexual Function in Women with Congenital Adrenal Hyperplasia : A Cross-Sectional Study

    NARCIS (Netherlands)

    van der Zwan, Yvonne G.; Janssen, Eefje H. C. C.; Callens, Nina; Wolffenbuttel, Katja P.; Cohen-Kettenis, Peggy T.; van den Berg, Marjan; Drop, Stenvert L. S.; Dessens, Arianne B.; Beerendonk, Catharina

    2013-01-01

    Introduction. Women with the classical form of congenital adrenal hyperplasia (CAH) are born with different degrees of virilization of the external genitalia. Feminizing surgery is often performed in childhood to change the appearance of the genitalia and to enable penilevaginal intercourse later in

  15. 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; Schwartz, Marianne; Juul, Anders

    2010-01-01

    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...

  16. 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.

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

    Science.gov (United States)

    Kim, Gu-Hwan; Yoo, Han-Wook

    2016-01-01

    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. PMID:27104172

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

    Science.gov (United States)

    Choi, Jin-Ho; Kim, Gu-Hwan; Yoo, Han-Wook

    2016-03-01

    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. PMID:27104172

  19. 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.

  20. X-linked congenital adrenal hypoplasia associated with hypospadias in an Egyptian baby: a case report

    Directory of Open Access Journals (Sweden)

    Metwalley Kotb

    2012-12-01

    Full Text Available Abstract Introduction X-linked congenital adrenal hypoplasia is a rare developmental disorder of the human adrenal cortex and is caused by deletion or mutation of the dosage-sensitive sex reversal adrenal hypoplasia congenita critical region of the X chromosome, gene 1 (DAX-1 gene. Most affected children present with failure to thrive, salt wasting and hypoglycemic convulsions in the first months of life. Hypospadias affects approximately one in 250 live male births. Mutations in the mastermind-like domain-containing 1 (MAMLD1 gene have been implicated as one of the causes of hypospadias in children. To the best of our knowledge, an association between congenital adrenal hypoplasia due to a DAX-1 mutation and hypospadias due to mutation of the MAMLD1 gene has not previously been reported in the literature. Case presentation A 35-day-old male Egyptian baby was referred to our institution for the evaluation of a two-week history of recurrent vomiting associated with electrolyte imbalance. On examination, our patient was found to have hypotension and dehydration. A genital examination showed distal penile hypospadias with chordee and normal testes. He had hyponatremia, hyperkalemia, hypoglycemia and metabolic acidosis. Endocrinological investigations revealed low levels of cortisol, 17-hydroxyprogesterone and aldosterone, with a high level of adrenocorticotrophic hormone. A provisional diagnosis of congenital adrenal hypoplasia associated with hypospadias was made. A molecular genetics study confirmed the diagnosis of X-linked congenital adrenal hypoplasia due to DAX-1 mutations and hypospadias due to MAMLD1 mutation. He was started on hydrocortisone and fludrocortisone treatment. After three weeks of treatment, his symptoms improved and his blood sugar, sodium, potassium and cortisol levels normalized. Conclusions We report the case of an Egyptian baby with an association of congenital adrenal hypoplasia due to DAX-1 mutation and hypospadias due

  1. Complex Genital Malformation in a Female with Congenital Adrenal Hyperplasia: Evaluation with Magnetic Resonance Imaging

    Energy Technology Data Exchange (ETDEWEB)

    Klessen, C.; Asbach, P.; Hein, P. A.; Beyersdorff, D.; Hamm, B.; Taupitz, M. [Humboldt-Univ. of Berlin, Campus Charite Mitte (Germany). Dept. of Radiology

    2005-12-01

    This is a case of complex genital malformation in a young patient with congenital adrenal hyperplasia. The magnetic resonance imaging (MRI) findings included ostium of the vagina into the urethra (common urogenital opening), prostate-like tissue surrounding the urethra, and hyperplasia of the left adrenal gland. The report provides information on the clinical findings, the MRI examination, including the applied sequences and the MR findings, and gives an overview of the disease pattern and its frequency of occurrence.

  2. Lipoid congenital adrenal hyperplasia due to STAR mutations in a Caucasian patient

    OpenAIRE

    Kaur, Jasmeet; Casas, Luis:; Bose, Himangshu S.

    2016-01-01

    Summary Lipoid congenital adrenal hyperplasia (lipoid CAH), the most severe form of CAH, is most commonly caused by mutations in steroidogenic acute regulatory protein (STAR), which is required for the movement of cholesterol from the outer to the inner mitochondrial membranes to synthesize pregnenolone. This study was performed to evaluate whether the salt-losing crisis and the adrenal inactivity experienced by a Scandinavian infant is due to a de novo STAR mutation. The study was conducted ...

  3. Complex Genital Malformation in a Female with Congenital Adrenal Hyperplasia: Evaluation with Magnetic Resonance Imaging

    International Nuclear Information System (INIS)

    This is a case of complex genital malformation in a young patient with congenital adrenal hyperplasia. The magnetic resonance imaging (MRI) findings included ostium of the vagina into the urethra (common urogenital opening), prostate-like tissue surrounding the urethra, and hyperplasia of the left adrenal gland. The report provides information on the clinical findings, the MRI examination, including the applied sequences and the MR findings, and gives an overview of the disease pattern and its frequency of occurrence

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

    OpenAIRE

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

    2008-01-01

    This study investigated early androgen influence on the development of human motor and visuomotor characteristics. Participants, ages 12 to 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 ...

  5. 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.

  6. 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.

  7. Prostate gland development and adrenal tumor in a female with congenital adrenal hyperplasia: A case report and review from radiology perspective

    OpenAIRE

    Fang, Benjamin; Cho, Francis; Lam, Wendy

    2013-01-01

    We describe a case of a female with simple virilizing congenital adrenal hyperplasia (CAH) reared as a male diagnosed at the late age of 64. Computed Tomography (CT) demonstrated a large adrenal mass, bilateral diffuse adrenal enlargement, female pelvic organs as well as a clearly visualized prostate gland. This is to the best of our knowledge the first case of such a sizable prostate gland in a female CAH patient documented on CT. We review the literature regarding aspects where radiologists...

  8. Triagem neonatal para hiperplasia adrenal congênita Neonatal screening for congenital adrenal hyperplasia

    Directory of Open Access Journals (Sweden)

    Cristina Botelho Barra

    2012-08-01

    Full Text Available OBJETIVO: A eficácia da triagem neonatal para redução de morbimortalidade das crianças com hiperplasia adrenal congênita (HAC é a principal justificativa para sua implantação. Um dos desafios para sua realização é a determinação do ponto de corte para a medida laboratorial da 17-hidroxiprogesterona (17OHP que apresente adequado custo/benefício. Neste estudo foram identificados fatores intervenientes nos resultados do projeto-piloto de triagem neonatal para HAC, realizado em Minas Gerais. MÉTODOS: Rastreamento neonatal entre 09/2007 e 05/2008, com dosagens da 17OHP de amostras de sangue colhidas no calcanhar, no 5º dia de vida (papel-filtro, processadas pelo método UMELISA 17-OH Progesterona NEONATAL®. Os pontos de corte foram 80 e 160 nmol/L, para crianças saudáveis ou não, respectivamente. RESULTADOS: A incidência de HAC foi 1:19.939 em 159.415 crianças triadas. O percentil 99 (p99 da 17OHP, na primeira amostra, foi 108 nmol/L. Em 13.298 recém-nascidos com peso informado, os p99 da 17OHP foram, respectivamente, 344 nmol/L para 2500 g. A taxa de reconvocação para consulta médica foi 0,31%. A sensibilidade do teste foi 100%, a especificidade, 99,6% e o valor preditivo positivo, 2,2%. Ajustando-se o ponto de corte da 17OHP para 110 nmol/L e 220 nmol/L, projetou-se redução em 76% dos encaminhamentos para consulta. CONCLUSÃO: Adoção dos pontos de corte para 17OHP, considerando peso de nascimento, apresentou-se como medida custo-efetiva para redução de falso-positivos. Os resultados desse estudo piloto sugerem que a triagem para HAC possa beneficiar a população infantil.OBJECTIVE: The effectiveness of neonatal screening for reducing morbimortality in children with congenital adrenal hyperplasia (CAH is the main justification for its implementation. One of the challenges for its implementation is to determine the cutoff value for laboratory measurement of 17-hydroxyprogesterone (17OHP with appropriate cost

  9. Combined mucopolysaccharidosis type VI and congenital adrenal hyperplasia in a child: Anesthetic considerations

    Directory of Open Access Journals (Sweden)

    Abhishek Bansal

    2012-01-01

    Full Text Available We present a child posted for magnetic resonance imaging of brain under general anesthesia with the rare combination of mucopolysachharidosis type VI and congenital adrenal hyperplasia. The presence of both these disorders has important anesthetic implications. The pathophysiology of this rare combination of disease is reviewed with emphasis on the anesthesia management.

  10. 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. PMID:27297501

  11. A Rare Combination: Congenital Adrenal Hyperplasia Due To 21 Hydroxylase Deficiency and Turner Syndrome

    Science.gov (United States)

    Peltek Kendirci, Havva Nur; Aycan, Zehra; Çetinkaya, Semra; Baş, Veysel Nijat; Ağladıoğlu, Sebahat Yılmaz; Önder, Aşan

    2012-01-01

    A combination of Turner syndrome (TS) and classical congenital adrenal hyperplasia (CAH) is rare. A one-day-old newborn was referred to our hospital with ambiguous genitalia. The parents were third-degree relatives. The infant’s weight was 3350g (50-75p), and the head circumference was 34.5cm (50p). The gonads were nonpalpable. Presence of a 3 cm phallus, one urogenital opening into the perineum, and incomplete labial fusion were identified. Laboratory tests revealed a classical type of CAH due to 21-hydroxylase deficiency. Karyotyping revealed a 45X0(35)/46XX(22) pattern with negative sex-determining region Y (SRY) on gene analysis. At the most recent follow-up visit, the patient appeared to be in good health - her height was 70.4 cm [-1.5 standard deviation (SD)] and her weight was 9.8 kg (0.3 SD). She was receiving hydrocortisone in a dose of 10 mg/m2/day, fludrocortisone acetate in a dose of 0.075 mg/day, and oral salt of 1 g/day. System examinations were normal. The patient’s electrolyte levels were found to be normal and she was in good metabolic control. The findings of this patient demonstrate that routine karyotyping during investigation of patients with sexual differentiation disorders can reveal TS. Additionally, signs of virilism should always be investigated at diagnosis or during physical examinations for follow-up of TS cases. [i][/i]SRY analysis should be performed primarily when signs of virilism are observed. CAH should also be considered in patients with negative [i]SRY[/i]. Conflict of interest:None declared. PMID:23261864

  12. A rare combination: congenital adrenal hyperplasia due to 21 hydroxylase deficiency and Turner syndrome.

    Science.gov (United States)

    Kendirci, Havva Nur Peltek; Aycan, Zehra; Çetinkaya, Semra; Baş, Veysel Nijat; Ağladıoğlu, Sebahat Yılmaz; Önder, Aşan

    2012-12-01

    A combination of Turner syndrome (TS) and classical congenital adrenal hyperplasia (CAH) is rare. A one-day-old newborn was referred to our hospital with ambiguous genitalia. The parents were third-degree relatives. The infant's weight was 3350g (50-75p), and the head circumference was 34.5cm (50p). The gonads were nonpalpable. Presence of a 3 cm phallus, one urogenital opening into the perineum, and incomplete labial fusion were identified. Laboratory tests revealed a classical type of CAH due to 21-hydroxylase deficiency. Karyotyping revealed a 45X0(35)/46XX(22) pattern with negative sex-determining region Y (SRY) on gene analysis. At the most recent follow-up visit, the patient appeared to be in good health - her height was 70.4 cm [-1.5 standard deviation (SD)] and her weight was 9.8 kg (0.3 SD). She was receiving hydrocortisone in a dose of 10 mg/m²/day, fludrocortisone acetate in a dose of 0.075 mg/day, and oral salt of 1 g/day. System examinations were normal. The patient's electrolyte levels were found to be normal and she was in good metabolic control. The findings of this patient demonstrate that routine karyotyping during investigation of patients with sexual differentiation disorders can reveal TS. Additionally, signs of virilism should always be investigated at diagnosis or during physical examinations for follow-up of TS cases. SRY analysis should be performed primarily when signs of virilism are observed. CAH should also be considered in patients with negative SRY. PMID:23261864

  13. AB079. Phenotype variation in untreated 46,XX congenital adrenal hyperplasia

    OpenAIRE

    Faradz, Sultana MH; Utari, Agustini; Ediati, Annastasia; Ariani, Mahayu Dewi; Juniarto, Achmad Zulfa

    2015-01-01

    Simple virilizing congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder characterized by 21 hydroxylase deficiency leading to excessive androgen production. In infants with 46,XX karyotype, prenatal exposure of androgen overproduction leads to a gradual virilization of the external genital. Consequently, babies are born with an ambiguous genital which complicates sex assignment. Genital virilization will be progressive if these babies remain untreated. In country where newbo...

  14. Brain White Matter Abnormality in a Newborn Infant with Congenital Adrenal Hyperplasia

    OpenAIRE

    Kaga, Akimune; Saito-hakoda, Akiko; Uematsu, Mitsugu; Kamimura, Miki; Kanno, Junko; Kure, Shigeo; Fujiwara, Ikuma

    2013-01-01

    Several studies have described brain white matter abnormalities on magnetic resonance imaging (MRI) in children and adults with congenital adrenal hyperplasia (CAH), while the brain MRI findings of newborn infants with CAH have not been clarified. We report a newborn boy with CAH who presented brain white matter abnormality on MRI. He was diagnosed as having salt-wasting CAH with a high 17-OHP level at neonatal screening and was initially treated with hydrocortisone at 8 days of age. On day 1...

  15. Splicing mutation in CYP21 associated with delayed presentation of salt-wasting congenital adrenal hyperplasia

    Energy Technology Data Exchange (ETDEWEB)

    Kohn, B.; Patel, S.V.; Pelczar, J.V. [North Shore Univ. Hospital, Manhasset, NY (United States)] [and others

    1995-07-03

    Patients with salt-wasting congenital adrenal hyperplasia (SW-CAH) most commonly carry an A-G transition at nucleotide 656 (nt 656 A{r_arrow}G), causing abnormal splicing of exons 2 and 3 in CYP21, the gene encoding active steroid 21-hydroxylase. Affected infants are severely deficient in cortisol and aldosterone, and usually come to medical attention during the neonatal period. We report on 2 affected boys, homozygous for the nt 656 mutation, who thrived in early infancy, but suffered salt-wasting crises unusually late in infancy, at 3.5 and 5.5 months, respectively. Laboratory studies at presentation showed hyponatremia, hyperkalemia, dehydration, and acidosis; serum aldosterone was low in spite of markedly elevated plasma renin activity. Basal 17-hydroxyprogesterone levels were only moderately elevated, yet the stimulated levels were more typical of severe, classic CAH due to 21-hydroxylase deficiency. Genomic DNA from the patients was analyzed. Southern blot showed no major deletions or rearrangements. CYP21-specific amplification by polymerase chain reaction, coupled with allele-specific hybridization using wild-type and mutant probes at each of 9 sites for recognized disease-causing mutations, revealed a single, homozygous mutation in each patient: nt 656 A{r_arrow}G. These results were confirmed by sequence analysis. We conclude that the common nt 656 A{r_arrow}G mutation is sometimes associated with delayed phenotypic expression of SW-CAH. We speculate that variable splicing of the mutant CYP21 may modify the clinical manifestation of this disease. 22 refs., 1 fig., 1 tab.

  16. Molecular genetic analysis of CYP21A2 gene in patients with congenital adrenal hyperplasia

    Directory of Open Access Journals (Sweden)

    Eunice Marumudi

    2012-01-01

    Full Text Available Context: Congenital adrenal hyperplasia (CAH is one of the inborn errors of metabolic disorder inherited in an autosomal recessive manner caused by the defects in the steroid 21 hydroxylase CYP21A2 gene. We analyzed the genotype of 62 patients with classic CAH. Aims: To find out the underlying mutations of CYP21A2 gene. Settings and Design: Cohort of CAH patients. Materials and Methods: Sixty-two patients with CAH were recruited from the endocrine clinic at AIIMS. Electrochemiluminiscence method was used for estimating the levels of cortisol. Radioimmunoassay kit-based method was used for estimating the 17 OHP levels. Polymerase chain reaction amplification was done using specific primers to amply the CYP21A2 gene. Statistical Analysis Used: Statistical analysis was done by using Epi Info Version 3.5.1.2008. Results: Out of 62 patients, 50 were simple virilizers (SV and 12 were salt wasters (SW. Fifty-six were females and six were males. Five 46, XX children were reared as males. Age at presentation varied from 8 months to 38 years. Molecular genetic analysis revealed that the highest number of patients harboured (In 2 IVS2-13 A/C > G (48%, followed by p.P30L (46%, p.Q318X (35%, (D 8 bp deletion 8 bp (26%, p.I172N (26%, and p. R356W (20% mutations. Conclusion: This is among the few studies to analyze the mutational spectrum of CYP21A2 gene in a large CAH cohort from India. Molecular diagnosis of CYP21A2 gene should be considered as part of the CAH evaluation to assess the risk of the patients/parents/siblings and to offer genetic counseling.

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

    OpenAIRE

    ANGOORANI, Hooman; Haratian, Zohreh; Halabchi, Farzin

    2012-01-01

    Background 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 endog...

  18. 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)

    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.)

  19. p.R182C mutation in Korean twin with congenital lipoid adrenal hyperplasia.

    Science.gov (United States)

    Park, Hye Won; Kwak, Byung Ok; Kim, Gu-Hwan; Yoo, Han-Wook; Chung, Sochung

    2013-03-01

    Congenital lipoid adrenal hyperplasia (CLAH) is the most severe form of congenital adrenal hyperplasia which is caused by mutations in the steroidogenic acute regulatory protein (StAR). The mutations in StAR gene resulted in failure of the transport cholesterol into mitochondria for steroidogenesis in the adrenal gland. Twin sisters (A, B) with normal 46, XX were born at 36+2 gestational week, premature to nonrelated parents. They had symptoms as hyperpigmentation, slightly elevated potassium level and low level of sodium. Laboratory finding revealed normal 17-hydroxyprogesterone level, elevated adrenocorticotropin hormone (A, 4,379.2 pg/mL; B, 11,616.1 pg/mL), and high plasma renin activity (A, 49.02 ng/mL/hr; B, 52.7 ng mL/hr). However, the level of plasma cortisol before treatment was low (1.5 µg/dL) in patient B but normal (8.71 µg/dL) in patient A. Among them, only patient A was presented with adrenal insufficiency symptoms which was suggestive of CLAH and prompted us to order a gene analysis in both twin. The results of gene analysis of StAR in twin revealed same heterozygous conditions for c.544C>T (Arg182Cys) in exon 5 and c.722C>T (Gln258(*)) in exon 7. We report the first case on the mutation of p.R182C in exon 5 of the StAR gene in Korea. PMID:24904850

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

    Directory of Open Access Journals (Sweden)

    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.

  1. High 17-hydroxyprogesterone level in newborn screening test for congenital adrenal hyperplasia.

    Science.gov (United States)

    Levy-Shraga, Yael; Pinhas-Hamiel, Orit

    2016-01-01

    We report a case of a female infant with an elevated 17-hydroxyprogesterone level detected in the newborn screening for 21-hydroxylase deficiency, the most common cause of congenital adrenal hyperplasia. The physical examination was unremarkable including no dysmorphism and no signs of virilisation. In the absence of clinical evidence of androgen excess, as would be expected in a female infant with 21-hydroxylase deficiency, further evaluation was performed and led to the diagnosis of the extremely rare disorder, 3β-hydroxysteroid dehydrogenase deficiency. This case highlights the differential diagnosis of elevated 17-hydroxyprogesterone levels in newborn screening and the importance of correct diagnosis for improving patient care. PMID:26912766

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

    Science.gov (United States)

    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. PMID:27180336

  3. Left ventricular failure due to a rare variant of congenital adrenal hyperplasia.

    Science.gov (United States)

    Bhatia, Sonal; Muranjan, Mamta N; Lahiri, Keya R

    2012-09-01

    "Hypertensive" variant of congenital adrenal hyperplasia is rare. The authors describe an interesting case of a 6-y-old boy who presented with an acute respiratory illness and progressive breathlessness since 1 y. Genital hyperpigmentation was noticed since 2 y of age; the onset of pubarche and increasing penile size at 4 y. He was admitted in congestive cardiac failure with a blood pressure of 150/100 mm Hg. Facial acne; slight facial, pubic hair and penile enlargement were additionally noted. Chest radiograph revealed cardiomegaly. Basal ACTH and 17-OHP levels were high. A diagnosis of congenital adrenal hyperplasia (11β-hydroxylase deficiency) was made due to hypertension with virilized genitalia. Cardiac failure was controlled with fluid restriction and diuretics; he was started on prednisolone, spironolactone and nifedipine. This case is presented for its rarity where hypertension can cause complication of cardiac failure, if diagnosis is delayed despite early features of pseudoprecocious puberty. PMID:22231770

  4. Identification of five novel STAR variants in ten Chinese patients with congenital lipoid adrenal hyperplasia.

    Science.gov (United States)

    Huang, Zhuo; Ye, Jun; Han, Lianshu; Qiu, Wenjuan; Zhang, Huiwen; Yu, Yongguo; Liang, Lili; Gong, Zhuwen; Gu, Xuefan

    2016-04-01

    Congenital lipoid adrenal hyperplasia (CLAH) is a rare autosomal recessive disorder caused by defective synthesis of all steroids. This disorder is characterized by 46,XY sex reversal, skin hyperpigmentation, early-onset adrenal crisis and enlarged adrenal with fatty accumulation. CLAH is caused by mutations in the STAR gene. The clinical features and STAR gene mutation spectrum of a large cohort of Chinese patients with CLAH were not reported previously. We performed clinical retrospective review and genetic analysis of the STAR gene in ten unrelated Chinese phenotypic female patients who were clinically diagnosed with CLAH and followed up in our hospital from 2006 to 2015. All ten patients, including two 46,XY females and eight 46,XX females, presented skin hyperpigmentation and early salt-wasting episode, and showed normal growth and development after steroid replacement treatment. Totally 20 mutant alleles containing 11 different STAR gene mutations were identified in these ten patients, including five novel variants (two missense and three null variants), all predicted to be pathogenic in bioinformatics analysis, and six mutations described in previous literature. Among these 11 mutations, a reported mutation c.772C>T and a novel variant c.707_708delinsCTT were most frequent, accounting for 35% and 15% of the total mutant alleles, respectively. This is the first report of a large Chinese cohort with CLAH, presenting the mutation spectrum of the STAR gene and two possible founder mutations in the Chinese population, which may contribute to better genetic counseling and prenatal diagnosis. PMID:26827627

  5. 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

    OpenAIRE

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

    2014-01-01

    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 ...

  6. A case of androgen-secreting adrenal carcinoma with non-classical congenital adrenal hyperplasia

    OpenAIRE

    Tarun Varma; Roopal Panchani; Ashutosh Goyal; Robin Maskey

    2013-01-01

    Androgen excess is one of the most common and disturbing endocrine disorder of reproductive-aged women, affecting approximately 7% of this population Androgen excess results in the development of androgenic features in the women affected, with the development of hirsutism, androgenic alopecia, ovulatory dysfunction, and, if extreme, even virilization and masculinization. Adrenocortical carcinoma (ACC) is a rare malignancy accounting for 0.02% of all annual cancers reported. About 60% are func...

  7. Comparison of Clinico-Radiological Features between Congenital Cystic Neuroblastoma and Neonatal Adrenal Hemorrhagic Pseudocyst

    International Nuclear Information System (INIS)

    To evaluate the radiological and clinical findings of congenital cystic neuroblastomas as compared with those of the cystic presentation of neonatal adrenal hemorrhage. We analyzed the US (n = 52), CT (n = 24), and MR (n = 4) images as well as the medical records of 28 patients harboring congenital cystic neuroblastomas (n = 16) and neonatal adrenal hemorrhagic pseudocysts (n = 14). The history of prenatal detection, location, size, presence of outer wall enhancement, internal septations, solid portion, calcification, turbidity, vascular flow on a Doppler examination, and evolution patterns were compared in two groups of cystic lesions, by Fischer's exact test. All (100%) neuroblastomas and three (21%) of the 14 hemorrhagic pseudocysts were detected prenatally. Both groups of cystic lesions occurred more frequently on the right side; 11 of 16 (69%) for neuroblastomas and 11 of 14 (79%) for hemorrhagic pseudocysts. The size, presence of solid portion, septum, enhancement, and turbidity did not differ significantly (p > 0.05) between the two groups of cystic lesions. However, tiny calcifications (n = 3) and vascular flow on color Doppler US (n = 3) were noted in only neuroblastomas. The cystic neuroblastomas became complex solid and cystic masses, and did not disappear for up to 90 days in the three following cases, whereas 11 of the 14 (79%) hemorrhagic pseudocysts disappeared completely and the three remaining (27%) evolved to calcifications only. Although the imaging findings of two groups of cystic lesions were similar, prenatal detection, the presence of calcification on initial images, vascularity on color Doppler US, and evolution to a more complex mass may all favor neuroblastomas

  8. Comparison of Clinico-Radiological Features between Congenital Cystic Neuroblastoma and Neonatal Adrenal Hemorrhagic Pseudocyst

    Energy Technology Data Exchange (ETDEWEB)

    Eo, Hong; Kim, Ji Hye; Jang, Kyung Mi; Yoo, So Young [Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul (Korea, Republic of); Lim, Gye Yeon [St. Mary' s Hospital Catholic University, Seoul (Korea, Republic of); Kim, Myung Joon [Severance Hospital Yonsei University, Seoul (Korea, Republic of); Kim, Ok Hwa [Ajou University Hospital, Suwon (Korea, Republic of)

    2011-02-15

    To evaluate the radiological and clinical findings of congenital cystic neuroblastomas as compared with those of the cystic presentation of neonatal adrenal hemorrhage. We analyzed the US (n = 52), CT (n = 24), and MR (n = 4) images as well as the medical records of 28 patients harboring congenital cystic neuroblastomas (n = 16) and neonatal adrenal hemorrhagic pseudocysts (n = 14). The history of prenatal detection, location, size, presence of outer wall enhancement, internal septations, solid portion, calcification, turbidity, vascular flow on a Doppler examination, and evolution patterns were compared in two groups of cystic lesions, by Fischer's exact test. All (100%) neuroblastomas and three (21%) of the 14 hemorrhagic pseudocysts were detected prenatally. Both groups of cystic lesions occurred more frequently on the right side; 11 of 16 (69%) for neuroblastomas and 11 of 14 (79%) for hemorrhagic pseudocysts. The size, presence of solid portion, septum, enhancement, and turbidity did not differ significantly (p > 0.05) between the two groups of cystic lesions. However, tiny calcifications (n = 3) and vascular flow on color Doppler US (n = 3) were noted in only neuroblastomas. The cystic neuroblastomas became complex solid and cystic masses, and did not disappear for up to 90 days in the three following cases, whereas 11 of the 14 (79%) hemorrhagic pseudocysts disappeared completely and the three remaining (27%) evolved to calcifications only. Although the imaging findings of two groups of cystic lesions were similar, prenatal detection, the presence of calcification on initial images, vascularity on color Doppler US, and evolution to a more complex mass may all favor neuroblastomas

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

    International Nuclear Information System (INIS)

    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)

  10. Effects on gender identity of prenatal androgens and genital appearance: evidence from girls with congenital adrenal hyperplasia.

    Science.gov (United States)

    Berenbaum, Sheri A; Bailey, J Michael

    2003-03-01

    To address questions about sex assignment in children with ambiguous genitalia, we studied gender identity in girls with congenital adrenal hyperplasia (CAH) in relation to characteristics of the disease and treatment, particularly genital appearance and surgery. A 9-item gender identity interview was administered to 43 girls with classical CAH ranging in age from 3-18 yr, 7 tomboys, and 29 sister control girls. Groups were compared on total score and on individual items. Results showed that, on the total gender identity score, 88% of girls with CAH had scores overlapping those of control girls, but the average score was intermediate between control girls and tomboys. On individual items of gender identity (discomfort as a girl, wish to be a boy), girls with CAH were similar to control girls. Gender identity in girls with CAH was not related to degree of genital virilization or age at which genital reconstructive surgery was done. Thus, moderate androgen excess early in development appears to produce a small increase in the risk of atypical gender identity, but this risk cannot be predicted from genital virilization. PMID:12629091

  11. Hormonal disturbances due to severe and mild forms of congenital adrenal hyperplasia are already detectable in neonatal life

    DEFF Research Database (Denmark)

    Faurschou, Signe; Mouritsen, Annette; Johannsen, Trine H;

    2015-01-01

    AIM: National screening programmes for congenital adrenal hyperplasia now include measuring several adrenal metabolites using highly sensitive liquid chromatography-tandem mass spectrometry. The aim of this study was to compare neonatal hormonal profiles - whole blood concentrations of 17α-hydrox....... CONCLUSION: There were significant differences in neonatal hormonal profiles between all groups and controls. This confirms that hormonal disturbances are already detectable in both severe and mild forms of congenital adrenal hyperplasia in neonatal life.......-hydroxyprogesterone, androstenedione, and cortisol - with genotypes in 21-hydroxylase deficiency. METHODS: The study included 62 patients with congenital adrenal hyperplasia born between 1982 and 2012 and 61 random controls born in 1985 and 2005. Patients were grouped according to mutation-based predictions of enzyme impairment....... Groups Null and A were salt-wasting (n = 35), Group B was simple virilising (n = 7) and Group C was nonclassic (n = 20). Dried blood spot samples were retrieved from the Danish Neonatal Screening Biobank. RESULTS: All patients with molecular verified 21-hydroxylase deficiency had significantly higher...

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

    Energy Technology Data Exchange (ETDEWEB)

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

    1989-08-01

    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.).

  13. Long-term follow-up of prenatally dexamethasone-treated children at risk for congenital adrenal hyperplasia

    OpenAIRE

    Hirvikoski, Tatja

    2011-01-01

    Congenital adrenal hyperplasia (CAH) is a disorder of steroid genesis affecting approximately 1:10 000 children and leading to increased levels of androgens during foetal life and subsequent virilization of external genitalia in affected girls. However, prenatal virilization can be eliminated by antenatal dexamethasone (DEX) treatment. To be fully effective, DEX treatment has to be started in the 6–7th postmenstrual week and continued until the results of the prenatal diagnosis are available ...

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

    International Nuclear Information System (INIS)

    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.)

  15. AB079. Phenotype variation in untreated 46,XX congenital adrenal hyperplasia

    Science.gov (United States)

    Faradz, Sultana MH; Utari, Agustini; Ediati, Annastasia; Ariani, Mahayu Dewi; Juniarto, Achmad Zulfa

    2015-01-01

    Simple virilizing congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder characterized by 21 hydroxylase deficiency leading to excessive androgen production. In infants with 46,XX karyotype, prenatal exposure of androgen overproduction leads to a gradual virilization of the external genital. Consequently, babies are born with an ambiguous genital which complicates sex assignment. Genital virilization will be progressive if these babies remain untreated. In country where newborn screening is available, patients with CAH are identified soon after birth and receive medication afterward, unlike in Indonesia. Many parents and patients with CAH did not seek healthcare professionals due to lack of information about inheritance and clinical manifestation of CAH. In Indonesia, newborn screening has not been applied yet; management and therapy for CAH are only available in some big cities but glucocorticoid medications need to be imported. Diagnosis was established using karyotype, hormonal and gene mutation analysis. In this study, we reported 30 patients with different physical appearance i.e., big phallus, one or two ending perineum, very severe chordae, labioscrotal fusion, complete labial fusion with scrotalization, masculization, no breast development, severe hyperpigmentation, appears Adam’s apple and short stature. Sex assignment is still a dilemma; some of the children were raised as males, females, or left undefined. The complex management of children and adults with CAH highlights the importance of raising awareness among medical personnels to promote early detection and treatment for CAH patients. Genetic counseling is essential for these families.

  16. Characterization of Novel StAR (Steroidogenic Acute Regulatory Protein) Mutations Causing Non-Classic Lipoid Adrenal Hyperplasia

    OpenAIRE

    Flück, Christa E.; Pandey, Amit V; Dick, Bernhard; Camats, Núria; Fernández-Cancio, Mónica; Clemente, María; Gussinyé, Miquel; Carrascosa, Antonio; Mullis, Primus E.; Audi, Laura

    2011-01-01

    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 a...

  17. Quality of life, social situation, and sexual satisfaction, in adult males with congenital adrenal hyperplasia.

    Science.gov (United States)

    Falhammar, Henrik; Nyström, Helena Filipsson; Thorén, Marja

    2014-09-01

    To determine quality of life (QoL) in adult males with congenital adrenal hyperplasia (CAH). CAH males with 21-hydroxylase deficiency (n = 30), 19-67 years old, were compared with controls (n = 32). QoL was assessed using questionnaires on general living conditions and sexual issues, and the psychological well-being index (PGWB) form. Fewer CAH males than controls were students (3 vs. 25 %, P = 0.028) and more had blue-collar work (57 vs. 33 %, P = 0.023). Patients were less interested in sports (47 vs. 72 %, P = 0.034) and art/literature/film (10 vs. 47 %, P = 0.004). PGWB total score was 82.7 ± 13.7 versus 87.0 ± 11.1 (P = NS), but hydrocortisone/cortisone acetate treated scored lower than controls and prednisolone treated. Glucocorticoid over-treated had lower QoL than those with poor control (PGWB total score 77.1 ± 13.5 vs. 92.4 ± 11.1, P = 0.026) and controls (P = 0.025). Total PGWB score was positively correlated with adrenal androgens and steroid precursors. Subscale scores indicated that patients with late diagnosis were more depressive (12.1 ± 2.8 vs. 13.9 ± 1.4, P = 0.011) and had a lower self-control (11.3 ± 3.6 vs. 13.1 ± 1.0, P = 0.019) compared with controls. Sexual satisfaction was similar in spite of more patients being sexually inactive (27 vs. 6 %, P = 0.040). Adult CAH males differed from controls with respect to type of occupation and spare time interests but had similar QoL despite being less sexually active. Optimizing glucocorticoid therapy might further improve QoL. Some disadvantages found in patients diagnosed late will hopefully not be seen in patients diagnosed by neonatal screening, but this has yet to be studied. PMID:24408051

  18. Anorexia nervosa in congenital adrenal hyperplasia: long-term follow-up of 4 cases.

    Science.gov (United States)

    Brand, M; Schoof, E; Partsch C-J; Peter, M; Hoepffner, W; Dörr, H G; Sippell, W G

    2000-01-01

    Studies which evaluate the psychosocial development and integration of adult female congenital adrenal hyperplasia (CAH) patients are rare but show that patients with the salt wasting form are significantly more virilized and more frequently single and childless. Major complaints are irregular menstruation, hirsutism, acne, obesity, deep voice, and cushingoid features. Surprisingly, a higher prevalence of psychosomatic disorders has not yet been described. Since anorexia nervosa (AN) has not yet been described in patients with CAH, we here report 4 cases of female CAH patients who developed AN during adolescence. Diagnosis of CAH was made between the age of 10 days and 3 years. Three patients suffer from the simple-virilizing form of CAH, one patient has a mild salt wasting CAH. Genital malformation varied from Prader stage II to IV. All 4 patients were compound heterozygotes for mutations/deletions of the CYP21B gene. Control of substitution therapy consisting of hydrocortisone and fluorocortisone was good. AN developed at ages 12, 13, 17, and 21 years (ICD 10 criteria for AN are BMI below 17.5 kg/m2, deliberate weight loss, body image disturbance, and primary or secondary amenorrhoea). Diagnosis of AN was established by psychiatrists and/or psychologists. All four patients showed an impressive and deliberate weight loss between 13 and 20 kg within 6 months, had primary or secondary amenorrhoea, and presented with BMI between 13 and 17.9 kg/m2. All patients received psychological treatment and recovered. However, one patient had a severe relapse of AN. Two patients are now married and one has a healthy son. These cases demonstrate that the diagnosis of CAH is compatible with the development of AN and illustrate the importance of providing treatment for CAH patients that encompasses not only medical but also psychological and social care. PMID:11026757

  19. 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.

  20. Male genitoplasty for 46 XX congenital adrenal hyperplasia patients presenting late and reared as males

    Directory of Open Access Journals (Sweden)

    Shilpa Sharma

    2012-01-01

    Full Text Available Aim: To evaluate the clinical profile and management of 46 XX Congenital Adrenal Hyperplasia (CAH patients presenting with severe virilization and assigned a male gender. Materials and Methods: Of 173 children diagnosed with CAH at the Pediatric Intersex Clinic since 1980, seven children with CAH presented late with severe virilization and were reared as males. All of them were assigned the male sex with removal of the female adnexa. Six were treated with male genitoplasty. Appropriate hormonal supplementation was offered after puberty. Results: The mean age at presentation was 14.2 years (7 - 21. Six patients had presented after puberty, only one at seven years of age. Staged male genitoplasty comprising of chordee correction, male urethroplasty, and bilateral testicular prosthesis was performed. The female adnexa (uterus, ovaries, most of the upper vagina, and the fallopian tubes were removed. The mental makeup was masculine in six and bigender in one. Bilateral mastectomy was performed at puberty in all. Hormonal treatment comprised of glucocorticoids and testosterone. Six patients were comfortable with the outcome of the masculinizing genitoplasty. One had a short-sized phallus. One had repeated attacks of urinary tract infection arising from the retained lower vaginal pouch. Social adjustments were good in all, except in one who had a bigender mental makeup. Conclusion: CAH patients with severe virilization presenting late and reared as males are extremely rare. However, the assigned gender can be retained adequately as males, meeting the socioeconomic compulsions of the society. The results are satisfactory following appropriate surgical procedures and hormonal supplementation.

  1. Congenital adrenal hyperplasia: long-term evaluation of feminizing genitoplasty and psychosocial aspects.

    Science.gov (United States)

    Gupta, D K; Shilpa, Sharma; Amini, A C; Gupta, M; Aggarwal, Gautam; Deepika, Gupta; Kamlesh, Khatri

    2006-11-01

    Analyzing the long-term outcome in females with congenital adrenal hyperplasia (CAH) is crucial to evaluate effectiveness of treatment strategies. The aim of the study was to evaluate the long-term results in patients with CAH after feminizing surgery from the pediatric intersex clinic. Of 163 patients of CAH being followed (1980-2005), 50 responded for review. The patients had undergone feminizing genitoplasty and hormonal therapy. Evaluation included filling a detailed questionnaire along with physical examination and a structured interview in privacy. Assessment was performed for cosmetic results (50), psychosocial adjustment (42) above 5-year age, and functional outcome in 19 cases above 14-year age. Mean age at clitoroplasty was 3.6 years (1-16 years) and at time of the study was 14.6 years (4-23 years), with a mean post-op follow up of 6 years after the final surgery (6 months-17 years). The cosmetic outcome of clitoroplasty was excellent in 37, satisfactory in 10, and poor in 3. Gender identity was female, male, and mixed in 45, 4, and 1, respectively. The attitude to self and life was positive in 36 and negative in 6. The functional outcome of vaginoplasty was satisfactory, unsatisfactory, and undetermined in 11, 4, and 4, respectively. Endocrine control was satisfactory in 36/50. A novel assessment system has been adopted for analyzing the results of clitoroplasty and vaginoplasty. Endocrine control and surgical treatment are complimentary to each other to achieve satisfactory results in majority of CAH patients. PMID:16947028

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

    Directory of Open Access Journals (Sweden)

    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.

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

    OpenAIRE

    Lee PeterA; Houk ChristopherP

    2010-01-01

    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 rela...

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

    Directory of Open Access Journals (Sweden)

    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.

  5. Reduced short term memory in congenital adrenal hyperplasia (CAH) and its relationship to spatial and quantitative performance.

    Science.gov (United States)

    Collaer, Marcia L; Hindmarsh, Peter C; Pasterski, Vickie; Fane, Briony A; Hines, Melissa

    2016-02-01

    Girls and women with classical congenital adrenal hyperplasia (CAH) experience elevated androgens prenatally and show increased male-typical development for certain behaviors. Further, individuals with CAH receive glucocorticoid (GC) treatment postnatally, and this GC treatment could have negative cognitive consequences. We investigated two alternative hypotheses, that: (a) early androgen exposure in females with CAH masculinizes (improves) spatial perception and quantitative abilities at which males typically outperform females, or (b) CAH is associated with performance decrements in these domains, perhaps due to reduced short-term-memory (STM). Adolescent and adult individuals with CAH (40 female and 29 male) were compared with relative controls (29 female and 30 male) on spatial perception and quantitative abilities as well as on Digit Span (DS) to assess STM and on Vocabulary to assess general intelligence. Females with CAH did not perform better (more male-typical) on spatial perception or quantitative abilities than control females, failing to support the hypothesis of cognitive masculinization. Rather, in the sample as a whole individuals with CAH scored lower on spatial perception (p ≤ .009), a quantitative composite (p ≤ .036), and DS (p ≤ .001), despite no differences in general intelligence. Separate analyses of adolescent and adult participants suggested the spatial and quantitative effects might be present only in adult patients with CAH; however, reduced DS performance was found in patients with CAH regardless of age group. Separate regression analyses showed that DS predicted both spatial perception and quantitative performance (both p ≤ .001), when age, sex, and diagnosis status were controlled. Thus, reduced STM in CAH patients versus controls may have more general cognitive consequences, potentially reducing spatial perception and quantitative skills. Although hyponatremia or other aspects of salt-wasting crises or additional hormone

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

    Directory of Open Access Journals (Sweden)

    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

  7. The long term outcome of feminizing genital surgery for congenital adrenal hyperplasia: anatomical, functional and cosmetic outcomes, psychosexual development, and satisfaction in adult female patients.

    NARCIS (Netherlands)

    Stikkelbroeck, M.M.L.; Beerendonk, C.C.M.; Willemsen, W.N.P.; Schreuders-Bais, C.; Feitz, W.F.J.; Rieu, P.N.M.A.; Hermus, A.R.M.M.; Otten, B.J.

    2003-01-01

    BACKGROUND: There are only a few reports analyzing the long term outcome of feminizing surgery in females with congenital adrenal hyperplasia (CAH). Such analysis is crucial to evaluate the treatment and to make necessary adjustments. STUDY OBJECTIVES: To evaluate the adult outcome after feminizing

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

    OpenAIRE

    Alqahtani, Mohammad A.; Ayed A. Shati; Minjing Zou; Alsuheel, Ali M.; Alhayani, Abdullah A.; Al-Qahtani, Saleh M.; Gilban, Hessa M.; Meyer, Brain F.; Yufei Shi

    2015-01-01

    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 enlargem...

  9. Microfilter paper method for 17α-hydroxyprogesterone radioimmunoassay: its application for rapid screening for congenital adrenal hyperplasia

    International Nuclear Information System (INIS)

    A new micromethod for measuring a steroid in blood collected on filter paper has been developed. The method is easy and rapid and has the specificity, accuracy and precision of RIA in whole plasma. Less than 20 μl of blood is required, and, therefore, samples may be obtained with heel prick. This method has been applied to the determination of 17α-hydroxyprogesterone (17α-OH-P) for screening patients with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency. There was excellent correlation (r = .94) between the values of 17α-OH-P obtained by microfilter paper method and those from plasma samples of cord (40 +- 13 ng/ml) and neonatal blood (<3.6 ng/ml) in normal infants. In six neonates at risk for CAH the diagnosis was made utilizing the microfilter paper method. 17α-OH-P concentrations were highly elevated in both filter paper eluates of whole blood (67 to 360 ng/ml of plasma) and simultaneously obtained plasma concentration (74 to 395 ng/ml) in affected infants. The concentrations of 17α-OH-P remained unchanged in dried filter paper blood when stored at room temperature for up to 21 days. Thus, filter paper with dried blood may be sent for steroid assay by mail. The ease with which samples may be transported and the minute amount of sample necessary make this method a promising screening test for CAH

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

    Directory of Open Access Journals (Sweden)

    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.

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

    Directory of Open Access Journals (Sweden)

    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.

  12. 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.

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

    Science.gov (United States)

    Alqahtani, Mohammad A; Shati, Ayed A; Zou, Minjing; Alsuheel, Ali M; Alhayani, Abdullah A; Al-Qahtani, Saleh M; Gilban, Hessa M; Meyer, Brain F; Shi, Yufei

    2015-01-01

    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. PMID:26265915

  14. Genetic analysis of NR0B1 in congenital adrenal hypoplasia patients: identification of a rare regulatory variant resulting in congenital adrenal hypoplasia and hypogonadal hypogonadism without testicular carcinoma in situ.

    Science.gov (United States)

    Walker, A P; Fowkes, R C; Saleh, F; Kim, S-H; Wilkinson, P; Cabrera-Sharp, V; Talmud, P J; Humphries, S E; Looijenga, L H J; Bouloux, P M G

    2012-01-01

    There have been few testicular histology reports of adult patients with congenital adrenal hypoplasia/hypogonadal hypogonadism (AHC/HH), but Leydig cell hyperplasia has been observed, an indicator of the possibility of malignant transformation. We aimed to define the basis of AHC/HH in 4 pedigrees of different ethnic backgrounds. One patient was elected to have testicular biopsy which was examined for evidence of carcinoma in situ (CIS). NR0B1 mutation analysis was performed by sequence analysis. NR0B1 expression was investigated by RT-PCR. Testicular biopsy sections were stained with HE or immunostained for OCT3/4, an established marker of CIS. We identified NR0B1 variants in the 4 AHC pedigrees: pedigree 1 (United Arab Emirates), c.1130A>G predicting p.(Glu377Gly); pedigree 2 (English Caucasian), c.327C>A predicting p.(Cys109*); pedigree 3 (Oman), a 6-bp deletion of a direct repeat, c.857_862delTGGTGC predicting p.(Leu286_Val287del); pedigree 4 (English Caucasian), c.1168+1G>A, a regulatory variant within the NR0B1 splice donor site. This last male patient, aged 30 years, presented with evidence of HH but incomplete gonadotrophin deficiency, following an earlier diagnosis of Addison's disease at 3 years. Hormonal therapy induced virilisation. Testicular biopsy was performed. The c.1168+1G>A variant abrogated normal splicing of testicular mRNA. Histological examination showed poorly organised testicular architecture and absence of spermatozoa. Morphological analyses and the absence of immunohistochemical staining for OCT3/4 excluded the presence of malignant germ cell cancer and its precursor lesion, CIS. These studies add to the knowledge of the types and ethnic diversity of NR0B1 mutations and their associated phenotypes, and provide insight into the assessment and interpretation of testicular histology in AHC and HH. PMID:23018754

  15. SIMPLE VIRILIZING CONGENITAL ADRENAL HYPERPLASIA: Presentation in a Female Child with Genital Ambiguity undergoing Genitoplasty (A Case Report

    Directory of Open Access Journals (Sweden)

    A Nurhaen

    2012-09-01

    Full Text Available Objective: our objective was to display the presentation of simple virilizing Congenital Adrenal Hyperplasia (CAH with genital ambiguity and severe virilization of the external genitalia, influencing growth, height and weight, bone maturation, quality of life and hence undergoing genitoplasty. Surgical treatment was aimed to obtain a more natural psychological and sexual development and the type of surgical repair performed was tailored based on individual patient’s anatomy findings.Case: we report a case of a 3-year old female with simple virilizing CAH, diagnosed due to genital ambiguity, severe virilization, clitoromegaly, external genital pigmentation, precocious pubic hair, previously was under treatment with glucocorticoid replacement therapy for 2years since newborn and neglected due to discontinuing the hormonal treatment for one year duration, underwent several clinical studies including chromosomal study for sex determining, pelvic ultrasonography for internal anatomical details and bone age study for skeletal maturation, givenstress dose steroids pre-operatively and followed by genital reconstructive surgery (genitoplasty. A clitorectomy and labioplasty approach were performed. At time of surgery cystoscopy was carried out prior to the surgical repair.Results: Management of virilizing CAH child with ambiguous genitalia demands multidisciplinary and interdisciplinary approach. The team‘s major challenge is to use thefeasible means to make the least bad choice in order to select a gender able to match the individualidentity, social identity, and behavioral identity. Surgical option should be tailored, one stage surgery,at early age and performed according to the individual anatomy findings.

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

    International Nuclear Information System (INIS)

    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

  17. 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.

  18. First case report of rare congenital adrenal insufficiency caused by mutations in the CYP11A1 gene in the Czech Republic.

    Science.gov (United States)

    Pomahačová, Renata; Sýkora, Josef; Zamboryová, Jana; Paterová, Petra; Varvařovská, Jana; Šubrt, Ivan; Dort, Jiří; Dortová, Eva

    2016-06-01

    We characterized a case of congenital adrenal insufficiency caused by cholesterol side-chain cleavage enzyme (P450scc) deficiency. The patient presented after birth with cardiopulmonary instability, hyponatremia, hyperkalemia, hypoglycemia and metabolic acidosis. We confirmed primary adrenal insufficiency. There were no signs of the external genitalia virilism. The replacement therapy with glucocorticoids and mineralocorticoids led to normal laboratory results. At the age of 12 years, we confirmed hypergonadotropic hypogonadism, which revealed disorder of steroidogenesis in the adrenal glands and in the gonads. The enzymatic block was found at the beginning of steroidogenesis. The mutation was confirmed in the CYP11A1 gene. The patient is compound heterozygote for the novel CYP11A1 missense mutation c.412G>A (p.Gly138Arg) in exon 2 and frameshift mutation c.508_509delCT (p.Leu170Valfs*30) in exon 3. The CYP11A1: c.412G>A (p.Gly138Arg) was predicted as pathogenic by in silico analysis. So far, only 19 patients with CYP11A1 mutations causing P450scc deficiency have been reported worldwide. There are no related reports in the Czech Republic. PMID:27008691

  19. Anestesia para cesariana em paciente com hiperplasia adrenal congênita: relato de caso Anestesia para cesárea en paciente con hiperplasia adrenal congénita: relato de caso Anesthesia for cesarean section in a patient with congenital adrenal hyperplasia: case report

    Directory of Open Access Journals (Sweden)

    Mrinalini Balki

    2004-12-01

    ándose administración de esteróides en el período peri-operatorio. Madre y recién nacido presentaron buena evolución. CONCLUSIONES: La conducta clínica en parturientas portadoras de HAC debe incluir en la planificación los efectos de la corticoterapia crónica, los señales de insuficiencia adrenal y la administración peri-operatoria de esteróides. Con relación a la anestesia, es necesario considerar aspectos relacionados a la obesidad y a la hipertensión arterial. Un abordaje multidisciplinar es necesario para garantizar un buen resultado materno-fetalBACKGROUND AND OBJECTIVES: The purpose of this case report is to illustrate the anesthetic management of a Cesarean section in a patient with non-classic congenital adrenal hyperplasia (CAH and to review the clinical features and management of various forms of CAH during pregnancy. CASE REPORT: A 32-year-old primigravida, diagnosed with non-classic CAH, was admitted with intrauterine growth retardation at 28 weeks of gestation. Clinical features included morbid obesity, mild hypertension and chronic use of glucocorticoids. An emergency Cesarean section was performed at 29 weeks of gestation under uneventful spinal anesthesia with perioperative steroid coverage. Both mother and neonate had good outcome. CONCLUSIONS: The management of patients with CAH presenting for labour or operative delivery should include the understanding of the effects of chronic steroid therapy, signs of adrenal insufficiency and perioperative steroid coverage. Anesthetic considerations should include issues related to obesity and hypertension. A multidisciplinary approach is required to ensure successful outcome.

  20. 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.

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

    Science.gov (United States)

    Lee, Peter A; Houk, Christopher P

    2010-01-01

    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. PMID:21197442

  2. Genetic Causes in Adrenal or Ovarian Hyperandrogenism in the Reproductive Years

    OpenAIRE

    Bals-Pratsch M; Seifert B; Ortmann O

    2009-01-01

    Hyperandrogenism and androgenisation frequently occur within families so that a monogenic cause such as congenital adrenal hyperplasia (CAH) must be considered. For the most part, classical CAH is first diagnosed and treated on the basis of common sex development disorders in early childhood by pediatric endocrinologists. In contrast, the non-classic "late-onset CAH" is mostly symptomatic by androgenisation from the age of puberty. For both forms, the final diagnosis relies on the evidence...

  3. Phenotypic, metabolic, and molecular genetic characterization of six patients with congenital adrenal hyperplasia caused by novel mutations in the CYP11B1 gene.

    Science.gov (United States)

    Nguyen, Huy-Hoang; Eiden-Plach, Antje; Hannemann, Frank; Malunowicz, Ewa M; Hartmann, Michaela F; Wudy, Stefan A; Bernhardt, Rita

    2016-01-01

    Congenital adrenal hyperplasia (CAH) is an autosomal recessive inherited disorder of steroidogenesis. Steroid 11β-hydroxylase deficiency (11β-OHD) due to mutations in the CYP11B1 gene is the second most common form of CAH. In this study, 6 patients suffering from CAH were diagnosed with 11β-OHD using urinary GC-MS steroid metabolomics analysis. The molecular basis of the disorder was investigated by molecular genetic analysis of the CYP11B1 gene, functional characterization of splicing and missense mutations, and analysis of the missense mutations in a computer model of CYP11B1. All patients presented with abnormal clinical signs of hyperandrogenism. Their urinary steroid metabolomes were characterized by excessive excretion rates of metabolites of 11-deoxycortisol as well as metabolites of 11-deoxycorticosterone, and allowed definite diagnosis. Patient 1 carries compound heterozygous mutations consisting of a novel nonsense mutation p.Q102X (c.304C>T) in exon 2 and the known missense mutation p.T318R (c.953C>G) in exon 5. Two siblings (patient 2 and 3) were compound heterozygous carriers of a known splicing mutation c.1200+1G>A in intron 7 and a known missense mutation p.R448H (c.1343G>A) in exon 8. Minigene experiments demonstrated that the c.1200+1G>A mutation caused abnormal pre-mRNA splicing (intron retention). Two further siblings (patient 4 and 5) were compound heterozygous carriers of a novel missense mutation p.R332G (c.994C>G) in exon 6 and the known missense mutation p.R448H (c.1343G>A) in exon 8. A CYP11B1 activity study in COS-1 cells showed that only 11% of the enzyme activity remained in the variant p.R332G. Patient 6 carried a so far not described homozygous deletion g.2470_5320del of 2850 bp corresponding to a loss of the CYP11B1 exons 3-8. The breakpoints of the deletion are embedded into two typical 6 base pair repeats (GCTTCT) upstream and downstream of the gene. Experiments analyzing the influence of mutations on splicing and on enzyme

  4. Adrenal imaging

    International Nuclear Information System (INIS)

    CT provides exquisite anatomic detail of normal and pathologic adrenal glands but little specificity as to the nature of adrenal masses. MR reliably distinguishes non-functioning and hyperfunctioning adenomas (adrenal mass/liver ratio 2.5). Metastases to the adrenal gland and primary adrenocortical carcinomas lie in the intermediate range (adrenal mass/liver ratio 1.4-2.5). Particularly problematic are masses with ratios in the 1.2-1.4 range since some non-functioning adenomas and some metastases will have similar signal intensities and cannot be distinguished. (author)

  5. Determination of adrenal volume by MRI in healthy children

    DEFF Research Database (Denmark)

    Mouritsen, Annette; Johansen, Marie Lindhardt; Wohlfahrt-Veje, Christine;

    2014-01-01

    BACKGROUND: Adrenal disorders such as congenital adrenal hyperplasia result in abnormal adrenal size and morphology, but little is known about the clinical value of magnetic resonance imaging (MRI) in determining adrenal volume. OBJECTIVE: To evaluate the potential usefulness of MR methodology, 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...... (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...

  6. Progress in the diagnosis and treatment of congenital adrenal hyperplasia%先天性肾上腺皮质增生症的诊断和治疗进展

    Institute of Scientific and Technical Information of China (English)

    梁玲

    2014-01-01

    先天性肾上腺皮质增生症属常染色体隐性遗传病,最常见的酶缺陷为21-羟化酶缺乏,占本病的90%以上.该病影响皮质醇有效合成,使促肾上腺皮质激素过多分泌,导致肾上腺皮质增生和雄性激素增多.先天性肾上腺皮质增生症引起女性出生时假两性畸形及儿童生长加速等.失盐型临床表现最严重,醛固酮严重缺乏者可出现肾上腺危象危及生命.新生儿筛查尤其是男婴的筛查可减少肾上腺危象的发病率及病死率.糖皮质激素替代治疗仍然是最根本的治疗手段,然而如何制定合适的治疗方案对儿科医师而言仍为一项挑战.%Congenital adrenal hyperplasia(CAH) is a family of autosomal recessive disorders.The most frequent form of the disease is steroid 21-hydroxylase deficiency,which accounts for more than 90% of all cases of CAH.In the pathogenesis of CAH,the cortisol synthesis impairement leads to excessive ACTH secretion of the adrenal glands,which ultimately results in adrenal hyperplasia and androgen overproduction.CAH causes signs of androgen excess including ambiguous genitalia in newborn females and rapid postnatal growth in both sexes.In the most severe " salt wasting" form of CAH,concomitant aldosterone deficiency may lead to salt wasting with life-threatening adrenal crises.Newborn screening,especially in males,reduces morbidity and mortality from adrenal crises.Glucocorticoid replacement remains the cornerstone of treatment.However,how to make a suitable therapeutic regimen of CAH is still a challenge to the pediatric clinician.

  7. Adrenal scintigraphy

    International Nuclear Information System (INIS)

    The exact localization of adrenal lesions can be achieved by noninvasive procedures. Whereas radiological methods reflect morphological changes, scintigraphy of adrenal cortex and medulla depends on function. - Radiolabeled 6β-methyl-19-norcholesterol is used for adrenocortical scintigraphy in primary aldosteronism, Cushing's syndrome and hyperandrogenism. By dexamethasone suppression a correct classification of adrenocortical lesions by scintigraphy can be observed in about 89% with a specificity of 86%. 123-I- and 131-I-metaiodobenzylguanidine is used for specific scintigraphy of the adrenal medulla. This method is a safe and reliable method for localization of adrenal and extraadrenal pheochromocytomas. (orig.)

  8. Adrenal scintigraphy

    Energy Technology Data Exchange (ETDEWEB)

    Fischer, M.; Vetter, H.

    1986-04-01

    The exact localization of adrenal lesions can be achieved by noninvasive procedures. Whereas radiological methods reflect morphological changes, scintigraphy of adrenal cortex and medulla depends on function. - Radiolabeled 6..beta..-methyl-19-norcholesterol is used for adrenocortical scintigraphy in primary aldosteronism, Cushing's syndrome and hyperandrogenism. By dexamethasone suppression a correct classification of adrenocortical lesions by scintigraphy can be observed in about 89% with a specificity of 86%. 123-I- and 131-I-metaiodobenzylguanidine is used for specific scintigraphy of the adrenal medulla. This method is a safe and reliable method for localization of adrenal and extraadrenal pheochromocytomas.

  9. Adrenal incidentaloma

    Directory of Open Access Journals (Sweden)

    G. Arnaldi

    2000-10-01

    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.

  10. Adrenal scintigraphy

    International Nuclear Information System (INIS)

    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.)

  11. Adrenal Insufficiency

    Science.gov (United States)

    ... three types of steroid hormones. In adrenal insufficiency (AI), the cortex does not make enough steroid hormones. ... unlike “adrenal fatigue.” There are two kinds of AI: • Primary AI, also called Addison’s disease. In this ...

  12. Adrenal Metastazlar

    OpenAIRE

    Erbağ, Gökhan; Aşık, Mehmet; Eroğlu, Mustafa; Güneş, Fahri; Şen, Hacer; Binnetoğlu, Emine; Bilen, Yıldız; Ükinç, Kubilay

    2014-01-01

    Adrenal bez, malign tümörlerin sık metastatik alanlarındandır. Metastatik tümörlerin postmortem yapılan otopsi serilerinde %13-17 arasında adrenal metastaz tespit edilmiştir. En sık olarak akciğer ve primer böbrek tümörlerinde adrenal metastaz görülmektedir. Ancak izole adrenal metastaz %1’den az vakada görülmüştür. Benign ve malign adrenal kitleler arasındaki farkı en iyi gösterme yolu kesitsel görüntüleme yöntemlerinde kitlelerin karakteristik özellikleridir. Biz bu retrospektif...

  13. Adrenal scintigraphy

    International Nuclear Information System (INIS)

    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 131I-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.)

  14. 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

  15. Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy.

    Science.gov (United States)

    Zaharieva, Irina T; Thor, Michael G; Oates, Emily C; van Karnebeek, Clara; Hendson, Glenda; Blom, Eveline; Witting, Nanna; Rasmussen, Magnhild; Gabbett, Michael T; Ravenscroft, Gianina; Sframeli, Maria; Suetterlin, Karen; Sarkozy, Anna; D'Argenzio, Luigi; Hartley, Louise; Matthews, Emma; Pitt, Matthew; Vissing, John; Ballegaard, Martin; Krarup, Christian; Slørdahl, Andreas; Halvorsen, Hanne; Ye, Xin Cynthia; Zhang, Lin-Hua; Løkken, Nicoline; Werlauff, Ulla; Abdelsayed, Mena; Davis, Mark R; Feng, Lucy; Phadke, Rahul; Sewry, Caroline A; Morgan, Jennifer E; Laing, Nigel G; Vallance, Hilary; Ruben, Peter; Hanna, Michael G; Lewis, Suzanne; Kamsteeg, Erik-Jan; Männikkö, Roope; Muntoni, Francesco

    2016-03-01

    Congenital myopathies are a clinically and genetically heterogeneous group of muscle disorders characterized by congenital or early-onset hypotonia and muscle weakness, and specific pathological features on muscle biopsy. The phenotype ranges from foetal akinesia resulting in in utero or neonatal mortality, to milder disorders that are not life-limiting. Over the past decade, more than 20 new congenital myopathy genes have been identified. Most encode proteins involved in muscle contraction; however, mutations in ion channel-encoding genes are increasingly being recognized as a cause of this group of disorders. SCN4A encodes the α-subunit of the skeletal muscle voltage-gated sodium channel (Nav1.4). This channel is essential for the generation and propagation of the muscle action potential crucial to muscle contraction. Dominant SCN4A gain-of-function mutations are a well-established cause of myotonia and periodic paralysis. Using whole exome sequencing, we identified homozygous or compound heterozygous SCN4A mutations in a cohort of 11 individuals from six unrelated kindreds with congenital myopathy. Affected members developed in utero- or neonatal-onset muscle weakness of variable severity. In seven cases, severe muscle weakness resulted in death during the third trimester or shortly after birth. The remaining four cases had marked congenital or neonatal-onset hypotonia and weakness associated with mild-to-moderate facial and neck weakness, significant neonatal-onset respiratory and swallowing difficulties and childhood-onset spinal deformities. All four surviving cohort members experienced clinical improvement in the first decade of life. Muscle biopsies showed myopathic features including fibre size variability, presence of fibrofatty tissue of varying severity, without specific structural abnormalities. Electrophysiology suggested a myopathic process, without myotonia. In vitro functional assessment in HEK293 cells of the impact of the identified SCN4A

  16. How Do Health Care Providers Diagnose Adrenal Gland Disorders?

    Science.gov (United States)

    ... visual field (the area visible at a given instant without moving the eyes) or a magnetic resonance ... from http://www.urologyhealth.org/urology/index.cfm?article=89 [top] The Endocrine Society. (2010). Congenital adrenal ...

  17. Bilateral adrenal hemorrhage and primary antiphospholipid antibody syndrome

    International Nuclear Information System (INIS)

    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. Adrenal Insufficiency and Addison's Disease

    Science.gov (United States)

    ... What is adrenal insufficiency? Adrenal insufficiency is an endocrine, or hormonal, disorder that occurs when the adrenal glands do not ... Top ] Points to Remember Adrenal insufficiency is an endocrine, or hormonal, disorder that occurs when the adrenal glands do not ...

  19. A Rare Adrenal Incidentaloma: Adrenal Schwannoma

    OpenAIRE

    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 [18F] fluorodeoxyglucose positron emission tomography (PET) were...

  20. 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...

  1. Adrenal scanning in children

    International Nuclear Information System (INIS)

    Adrenal scanning with 131I-Adosterol is very useful and rather non-invasive than adrenal angiography in children. It is possible to diagnose various diseases of the adrenal glands not only structural but also functional abnormalities. In patients with adrenogenital syndromes, we are able to demonstrate hyperplasia of the adrenal glands, and in patients with aldosteronism or Cushing's syndrome differential diagnosis between bilateral hyperplasia and functional adenoma of the adrenal gland can be made. (author)

  2. Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy

    DEFF Research Database (Denmark)

    Zaharieva, Irina T; Thor, Michael G; Oates, Emily C;

    2016-01-01

    Congenital myopathies are a clinically and genetically heterogeneous group of muscle disorders characterized by congenital or early-onset hypotonia and muscle weakness, and specific pathological features on muscle biopsy. The phenotype ranges from foetal akinesia resulting in in utero or neonatal...

  3. Adrenal gland and adrenal mass calcification

    Energy Technology Data Exchange (ETDEWEB)

    Hindman, Nicole; Israel, Gary M. [New York University Medical Center, Department of Radiology, New York, New York (United States)

    2005-06-01

    With the widespread use of computed tomography (CT), it is not unusual to find calcification within the adrenal glands. There are a variety of adrenal lesions that may calcify, but usually the appearance of the calcification is not specific. However, when the pattern and morphology of the adrenal calcification are combined with the other imaging features and the appropriate clinical history, the correct diagnosis may be suggested. (orig.)

  4. 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 - ...

  5. Laparoscopic Adrenal Gland Removal

    Science.gov (United States)

    ... adrenal tumors that appear malignant. What are the Advantages of Laparoscopic Adrenal Gland Removal? In the past, ... of procedure and the patients overall condition. Common advantages are: Less postoperative pain Shorter hospital stay Quicker ...

  6. Evolving adrenal insufficiency

    OpenAIRE

    Ajitesh Roy; Rana Bhattacharjee; Soumik Goswami; Anubhav Thukral; S Chitra; Partha Pratim Chakraborty; Dayanidhi Meher; Sujoy Ghosh; Satinath Mukhopadhyay; Subhankar Chowdhury

    2012-01-01

    Introduction: Tuberculosis is the most common cause of Addison's disease in India. The exact status of adrenal reserve in tuberculosis is still an enigma and recovery of adrenal function is unpredictable. Objective: We report a case with a pre-Addisonian state and unchanged adrenal size after 1 year treatment. Materials and Methods: A 31-year patient with adrenal tuberculosis was diagnosed and treated with anti tubercular drugs (ATDs) and steroid. Results: A 31-year male, presented with fever...

  7. Role of adrenal imaging in surgical management

    Energy Technology Data Exchange (ETDEWEB)

    Lamki, L.M.; Haynie, T.P. (Univ. of Texas M.D. Anderson Cancer Center, Houston (USA))

    1990-03-01

    Adrenal imaging using radiopharmaceuticals is a functional test that can contribute significantly to surgical management and follow-up of patients with either benign or malignant conditions of the adrenal cortex and medulla. Imaging of the cortex is achieved by iodine-131-labeled iodomethyl nor-cholesterol (NP-59), while adrenal medulla imaging can be successfully accomplished by 131I-metaiodobenzylguanidine (MIBG), which localizes in the adrenergic nerve terminal with norepinephrine. Both tests carry high sensitivity and specificity for functional tumors and hyperplasia, and often better than CT scanning. This article reviews the current status and clinical utility of nuclear imaging of the adrenal cortex in congenital hyperplasia, low renin hypertension and aldosteronism, and Cushing's syndrome. Adrenal medulla imaging is reviewed in light of our experience at the University of Texas M.D. Anderson Cancer Center in pheochromocytoma, neuroblastoma, and other neuroectodermal tumors. Investigation of {sup 131}I-MIBG therapy of metastatic tumors of neuroectodermal origin potentially offers a means of at least controlling symptoms of hormonal secretion in these patients. 40 references.

  8. Hiperplasia adrenal congênita: dosagem da 17-hidroxiprogesterona basal para seleção e casos para realização do teste de estímulo com ACTH sintético Congenital adrenal hyperplasia: measurement of basal 17-hydroxyprogesterone as a screening test to select patients for the synthetic ACTH provocative test

    OpenAIRE

    Lúcia Helena Coelho Nóbrega; Josivan Gomes de Lima; Maria Lúcia Coelho Nóbrega; Ana Luiza de Souza Brito; Raphael Pinto de Mendonça

    2004-01-01

    OBJETIVOS: avaliar se os níveis de 17-hidroxiprogesterona podem predizer o resultado do teste de estímulo como diagnóstico de hiperplasia adrenal congênita, forma tardia. MÉTODOS: foram incluídas no estudo e avaliadas retrospectivamente 122 pacientes com suspeita clínica de hiperplasia adrenal congênita forma tardia. Essa suspeita clínica incluía sinais e/ou sintomas de hiperandrogenismo (hirsutismo, acne, pele oleosa, irregularidade menstrual, etc.). Todas as pacientes foram submetidas ao te...

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

    Energy Technology Data Exchange (ETDEWEB)

    Barwick, T.D. [Department of Diagnostic Radiology, St Bartholomew' s Hospital, London (United Kingdom)]. E-mail: tara.barwick@btinternet.com; Malhotra, A. [Department of Diagnostic Radiology, St Bartholomew' s Hospital, London (United Kingdom); Webb, J.A.W. [Department of Diagnostic Radiology, St Bartholomew' s Hospital, London (United Kingdom); Savage, M.O. [Department of Paediatric Endocrinology, St Bartholomew' s Hospital, London (United Kingdom); Reznek, R.H. [Department of Diagnostic Radiology, St Bartholomew' s Hospital, London (United Kingdom)

    2005-09-01

    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.

  10. 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

  11. Giant adrenal myelolipoma

    OpenAIRE

    Fernandes Gwendolyn; Gupta Rajib; Kandalkar Bhuvaneshwari

    2010-01-01

    Adrenal myelolipoma is a rare benign tumor composed of adipose and hematopoietic tissue. Most tumors are small in size and incidentally detected. We report a case of giant adrenal myelolipoma weighing 2200 gms which was diagnosed on radiology as a liposarcoma. This case is unusual in view of the large size and presence of bony spicules. To the best of our knowledge, not more than 10 giant adrenal myelolipoma cases have been reported in literature.

  12. Juxta-adrenal neurilemmoma

    International Nuclear Information System (INIS)

    We present the case of 29-year-old patient with a prolonged clinical history of nonspecific abdominal pain. The ultrasonographic study revealed a possible right adrenal mass of solid nature measuring 35 x 25 mm in anteroposterior diameter. Tomodensitometry (CT) and magnetic resonance (MR) confirmed the existence of the adrenal mass. The patient underwent surgical treatment and the pathological study disclosed the lesion to be Juxta-adrenal neurilemmoma. We point out the most characteristic traits of these tumors on CT and MR studies and the need to include them in the differential diagnosis of nonfunctioning adrenal masses. (Author) 9 refs

  13. Myth vs. Fact: Adrenal Fatigue

    Science.gov (United States)

    ... Hormones and Health › Myth vs Fact › Adrenal Fatigue Myth vs. Fact Adrenal Fatigue January 2015 Download PDFs ... science. This fact sheet was created to address myths about adrenal fatigue and to provide facts on ...

  14. Prenatal diagnosis of congenital mesoblastic nephroma

    OpenAIRE

    Do, A Young; Kim, Jung-Sun; Choi, Suk-Joo; Oh, Soo-Young; Roh, Cheong-Rae; Kim, Jong-Hwa

    2015-01-01

    Congenital mesoblastic nephroma is a rare renal tumor that is diagnosed during pregnancy and is associated with polyhydramnios, prematurity, and neonatal hypertension. Differential diagnoses include Wilms tumor, adrenal neuroblastoma, and other abdominal tumors. We report a case of congenital mesoblastic nephroma detected by prenatal ultrasonography as a large fetal renal mass with polyhydramnios at 32 weeks of gestation. Ultrasonography showed a 6×6-cm complex, solid, hyperechoic, round mass...

  15. Renal and adrenal tumors: Pathology, radiology, ultrasonography, therapy, immunology

    International Nuclear Information System (INIS)

    Aspects as diverse as radiology, pathology, urology, pediatrics and immunology have been brought together in one book. The most up-do-date methods of tumor diagnosis by CT, NMR, and ultrasound are covered, as are methods of catheter embolization and radiation techniques in case of primarily inoperable tumors. Contents: Pathology of Renal and Adrenal Neoplasms; Ultrasound Diagnosis of Renal and Pararenal Tumors; Computed-Body-Tomography of Renal Carcinoma and Perirenal Masses; Magnetic Resonance Imaging of Renal Mass Lesions; I-125 Embolotherapy of Renal Tumors; Adrenal Mass Lesions in Infants and Children; Computed Tomography of the Adrenal Glands; Scintigraphic Studies of Renal and Adrenal Function; Surgical Management of Renal Cell Carcinoma; Operative Therapy of Nephroblastoma; Nonoperative Treatment of Renal Cell Carcinoma; Prenatal Wilms' Tumor; Congenital Neuroblastoma; Nonsurgical Management of Wilms' Tumor; Immunologic Aspects of Malignant Renal Disease

  16. Determination of serum steroids in monitoring therapy of congenital adrenal hyperplasia%血清类固醇检测于先天性肾上腺皮质增生症治疗监测意义的评价

    Institute of Scientific and Technical Information of China (English)

    肖慧文; 马华梅; 苏喆; 杜敏联; 李燕虹; 陈红珊; 陈秋莉

    2012-01-01

    Objective To assess the utility of serum steroids measurement in monitoring the treatment of children with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21OHD). Method Nineteen Patients with CAH 21OHD aged (3.67 ± 1.54) years treated with hydrocortisone and fluorocortisone replacement were followed up at an intervals of 0.33 - 1.0 years over a period of ( 1.47 ± 0.7 ) years. At each visit,roentgenograms of the hands and wrists were taken,fasting peripheral blood were collected to test serum dehydroepiandrosterone sulfate, progesterone, 17-hydroxyprogesterone ( 17-OHP ),androstenedione ( △4-A ),testosterone,free testosterone,estrone,and estradiol concentrations at 8AM in the morning before the first dose of glucocorticoid.Then the patients were classified as being in " Good Control" or in " Poor Control" based on clinical criteria including signs of androgen excess,growth velocity and bone age increment at each interval. Comparisons were carried out between the serum steroid concentrations of the two groups. The receiver operating characteristic (ROC) curves were used to determine the cut-off values for diagnosing "Poor Control".Result Both of serum △4-A and 17-OHP concentrations were higher in " Poor Control" group than those in " Good Control" group [5.95(2.23-11.2) nmoL/Lversus 1.05(1.05-9.89) nmoL/L,t =2.19;13.85(6.06-20) μg/Lversus 3.67(0.42- 21.1) μg/L,t =2.17; P < 0.05,respectively]. The ROC curves for serum △4-Aconcentrations,serum 17-OHP concentrations,serum △4-A in combination with 17-OHP concentrations were constructed with areas under the ROC curves (95% CI) of 0.76(0.62,0.90),0.75(0.62,0.88),0.69 (0.54,0.84),P < 0.05,respectively.Serum △4-A of 3.9 nmol/L had 0.78 of sensitivity and 0.75 of specificity in diagnosing "Poor Control".Serum 17-OHP of 7.1 μg/L has 0.67 of sensitivity and 0.71 of specificity in diagnosing "Poor Control".Conclusion Each of serum 17-OHP or/and △4-A concentration was of significance

  17. Hiperplasia adrenal congênita: dosagem da 17-hidroxiprogesterona basal para seleção e casos para realização do teste de estímulo com ACTH sintético Congenital adrenal hyperplasia: measurement of basal 17-hydroxyprogesterone as a screening test to select patients for the synthetic ACTH provocative test

    Directory of Open Access Journals (Sweden)

    Lúcia Helena Coelho Nóbrega

    2004-05-01

    Full Text Available OBJETIVOS: avaliar se os níveis de 17-hidroxiprogesterona podem predizer o resultado do teste de estímulo como diagnóstico de hiperplasia adrenal congênita, forma tardia. MÉTODOS: foram incluídas no estudo e avaliadas retrospectivamente 122 pacientes com suspeita clínica de hiperplasia adrenal congênita forma tardia. Essa suspeita clínica incluía sinais e/ou sintomas de hiperandrogenismo (hirsutismo, acne, pele oleosa, irregularidade menstrual, etc.. Todas as pacientes foram submetidas ao teste de estímulo da adrenal com ACTH sintético 0,25 mg (Synacthen®. Após repouso de 60 minutos as amostras foram colhidas nos tempos basal e 60 minutos após a administração de 0,25 mg de ACTH sintético para dosagem de 17-hidroxiprogesterona, sendo mantido o acesso venoso com catéter heparinizado. Foi utilizado o método de radioimunoensaio para realizar as dosagens séricas da 17-hidroxiprogesterona. A sensibilidade e a especificidade da 17-hidroxiprogesterona basal como teste de rastreamento para hiperplasia adrenal congênita foram medidas, avaliando vários pontos de corte. Curvas ROC foram feitas para analisar a performance do teste, utilizando o software Medcalc®. RESULTADOS: a análise por curva ROC mostrou um ponto de corte de 181 ng/dl acima do qual dever-se-ia realizar o teste de estímulo, bem próximo a 200 ng/dl, mais comumente aceito pela literatura. Níveis séricos da 17-hidroxiprogesterona mais altos que 200 ng/dl têm valores preditivo positivo e negativo de 75% e 100% e acurácia de 98,4% como diagnóstico de hiperplasia adrenal não-clássica. CONCLUSÕES: considerando os dados, sugerimos que pacientes com hiperandrogenismo clínico devam iniciar a investigação com 17-hidroxiprogesterona basal e, caso esta se mostre acima de 181 ng/dl, sigam a investigação com o teste de estímulo com ACTH sintético.INTRODUCTION: adrenal hyperplasia is a common genetic disorder and 95% of the cases are due to a 21-hydroxylase

  18. 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.

  19. Managing Adrenal Insufficiency

    Science.gov (United States)

    ... the body. • Surgical removal of the adrenals Temporary AI is caused by some medications, infections, and/or surgeries. Causes of temporary AI include the following: • Transsphenoidal surgery for Cushing’s disease ...

  20. Evolving adrenal insufficiency

    Directory of Open Access Journals (Sweden)

    Ajitesh Roy

    2012-01-01

    Full Text Available Introduction: Tuberculosis is the most common cause of Addison′s disease in India. The exact status of adrenal reserve in tuberculosis is still an enigma and recovery of adrenal function is unpredictable. Objective: We report a case with a pre-Addisonian state and unchanged adrenal size after 1 year treatment. Materials and Methods: A 31-year patient with adrenal tuberculosis was diagnosed and treated with anti tubercular drugs (ATDs and steroid. Results: A 31-year male, presented with fever and weight loss for 3½ months with anorexia, nausea, hyperpigmentation of skin, and buccal mucosa and weakness with past h/o adequately treated pulmonary tuberculosis at 3 years of age. On examination, the patient was anemic. A non-tender, firm right (Rt. submandibular lymphnode was palpable. Investigations revealed: High erythrocyte sedimentation rate (ESR, negative HIV, and sputum for acid fast bacilli (AFB. Initial cortisol was high but subsequently became low with negative short synacthin test (SST. Computed tomography showed bilateral (B/L enlarged hypodense adrenal mass with inconclusive fine needle aspiration cytology (FNAC and negative AFB culture. Rt. submandibular lymph node FNAC showed caseating granuloma. ATDs and steroids were started, the lymphadenopathy regressed and symptoms subsided. However, after 1 year of treatment steroid withdrawal failed and adrenal size remained the same. Conclusion: The adrenal has considerable capacity to regenerate during active infection and ultimately become normal or smaller in size. However, in the case reported here, they failed to regress. Reversal of adrenal function following ATD is a controversial issue. Some studies have shown normalization following therapy, while others have contradicted it similar to the finding in our case.

  1. Adrenal imaging agents

    International Nuclear Information System (INIS)

    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

  2. Anatomical and functional outcomes of feminizing genitoplasty for ambiguous genitalia in patients with virilizing congenital adrenal hyperplasia Existem muitas controvérsias quanto à melhor técnica e a idade ideal para a realização da genitoplastia feminizante e poucos trabalhos relatam seus resultados em longo prazo

    Directory of Open Access Journals (Sweden)

    Maria Helena Palma Sircili

    2006-06-01

    Full Text Available The ideal surgical technique and appropriate age for performing feminizing genitoplasty are debatable, and few long-term outcome studies have been reported. PURPOSE: To report a retrospective study on anatomical and functional outcomes of feminizing genitoplasty in patients with virilizing congenital adrenal hyperplasia. METHODS: We selected 34 patients (mean age = 3.4 ± 2.5 yr with genital ambiguity classified according to Prader stage. Follow-up ranged from 2 to 16 years. Clitoral length ranged from 1.9 to 5.0 cm; 28 patients had a single perineal orifice, and 6 had a double orifice. The surgical technique included clitorovaginoplasty in a single procedure and was carried out before 2 years of age in 18 patients. Clitoroplasty was performed with glans preservation in all patients. Blood supply was exclusively maintained by the frenular pedicle in 97% of the cases, whereas clitoral dorsal nerves and vessels were preserved in the remaining 3%. The opening of the urogenital sinus was performed using either the Y-V perineal flap procedure (25 patients or the cut-back incision procedure (8 patients. RESULTS: Good morphological and functional results were achieved in 68% of the patients; 21% of the patients had surgical complications, such as incision bleeding (2 cases, glans necrosis (1 girl with Prader V, and vaginal introitus stenosis (4 cases. Three of the latter underwent dilation with acrylic molds in the post-pubertal period with good functional results. CONCLUSIONS: We conclude that single-stage feminizing genitoplasty consisting of vulvoplasty, clitoroplasty, and Y-V perineal flap produced good cosmetic and functional results in virilized girls with congenital adrenal hyperplasia, with few complications. In addition, this surgical approach prevented the need for neovaginaplasty even in patients with high vaginal insertion.OBJETIVO: Apresentar um estudo retrospectivo sobre os resultados cosméticos e funcionais da genitoplastia feminizante

  3. IMAGe association: report of two cases in siblings with adrenal hypoplasia and review of the literature.

    Science.gov (United States)

    Phillips, Katherine; Arroyo, May R; Duckworth, Lizette Vila

    2014-01-01

    We report the postmortem findings of two siblings with gross and microscopic features consistent with IMAGe association (Intrauterine growth retardation, Metaphyseal dysplasia, Adrenal hypoplasia congenita, and Genital anomalies) with an emphasis on the histopathology of the adrenal gland in this rare syndrome. The first sibling was an 8-week old male diagnosed postnatally with primary adrenal insufficiency. There was no deletion of the DAX1 gene by FISH. Examination at autopsy revealed dysmorphic features including frontal bossing, epicanthal folds, flat philtrum, cryptorchidism, penile chordee, overriding fourth toe, and height and weight below 3rd percentile. Grossly, the adrenal glands were not identified; however, microscopic examination of the suprarenal soft tissue revealed a 3 mm focus of disorganized fetal adrenal cortex with distended "cytomegalic" cells with abundant pink eosinophilic cytoplasm, vesicular nuclei, and cytoplasmic vacuolization. A minute focus of permanent adult cortex was also seen, but no adrenal medulla was identified. An autopsy of the sibling, who died 12 years previously at day 9 of life, revealed dysmorphic facial features with cryptorchidism and a large phallus. The adrenal glands were grossly hypoplastic (11 mm). Histologically, the adrenal glands showed disorganized fetal cortex with cytomegalic cells, a larger amount of permanent adult cortex, and bizarre nuclei with numerous pseudoinclusions. While there is currently limited information regarding the histopathologic adrenal findings in IMAGe association, our small case series suggests overlapping features between X-linked recessive congenital adrenal hypoplasia (cytomegalic cells with lack of permanent adult cortex) and autosomal recessive congenital adrenal hypoplasia (diminished permanent adult cortex without cytomegalic cells). PMID:24617583

  4. Multilocular bronchogenic cyst of the bilateral adrenal: report of a rare case and review of literature

    OpenAIRE

    Cao, De-Hong; Zheng, Shuo; Lv, Xiao; Yin, Rui; Liu, Liang-Ren; Yang, Lu; Huang, Yu; Wei, Qiang

    2014-01-01

    Purpose: Bronchogenic cysts are rare benign congenital anomalies, originating from the embryonic foregut ventral segment. Adrenal bronchogenic cyst is a rare form of this anomaly. One extremely rare case of bilateral adrenal multilocular bronchogenic cyst in our hospital was reported and the relevant literatures were reviewed. Significant findings: A 51-year-old man suffered from an intermittent vague headache, fatigue and hypertension history for 2 years, which were gradually worsened in a w...

  5. 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.

  6. Contemporary adrenal scintigraphy

    International Nuclear Information System (INIS)

    High-resolution computed tomography (CT) and magnetic resonance (MR) imaging have replaced scintigraphy as primary imaging modalities for the evaluation of adrenal diseases. Thin-slice CT, CT contrast washout studies and MR pulse sequences specifically designed to identify adrenal lipid content have radically changed the approach to anatomic imaging and provide unique insight into the physical characteristics of the adrenals. With a confirmed biochemical diagnosis, further evaluation is often unnecessary, especially in diagnostic localization of diseases of the adrenal cortex. However, despite the exquisite detail afforded by anatomy-based imaging, there are not infrequently clinical situations in which the functional insight provided by scintigraphy is crucial to identify adrenal dysfunction and to assist in localization of adrenocortical and adrenomedullary disease. The introduction of hybrid PET/CT and SPECT/CT, modalities that directly integrate anatomic and functional information, redefine the radiotracer principle in the larger context of high-resolution anatomic imaging. Instead of becoming obsolete, scintigraphy is an element of a device that combines it with CT or MR to allow a direct correlation between function and anatomy, whereby the combination creates a more powerful diagnostic tool than the separate component modalities. (orig.)

  7. Radiologic evaluation of adrenal glands

    International Nuclear Information System (INIS)

    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

  8. Voluminous adrenal masses

    International Nuclear Information System (INIS)

    Management of voluminous adrenal gland tumor (> 5 cm) is a clinical challenge. Only 33 % of these lesions are malignant. Surgical treatment is not always necessary. Several investigations as biochemical assessment, nuclear medicine, studies, arteriography, computed tomography or magnetic resonance imaging are useful in order to approach the diagnosis. Unfortunately, none has sufficient diagnostic specificity to distinguish malignant from benign lesions. After a review of clinical, biochemical, radiological characteristics of the main adrenal gland tumors, we have defined the advantages and the defaults of different imaging modalities. A simple management plan of voluminous adrenal gland lesion is proposed. The study is based upon the analysis of 63 cases reported by several authors. (authors). 16 refs., 6 figs

  9. Adrenal incidentalomas. Primary hyperaldosteronism

    International Nuclear Information System (INIS)

    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

  10. Horseshoe adrenal gland in association with asplenia: presentation of six new cases and review of the literature

    International Nuclear Information System (INIS)

    Asplenia syndrome is a form of heterotaxy characterized by bilateral right-sidedness. Congenital fusion of the adrenal glands (''horseshoe adrenal gland'') is a less common feature of asplenia syndrome, most instances of which have been found at autopsy.Purpose. To present clinical and imaging features of infants diagnosed with asplenia syndrome and horseshoe adrenal gland.Materials and methods. Six infants with asplenia syndrome were identified as having a horseshoe adrenal gland. Medical records and imaging studies were reviewed to determine clinical presentation, associated anomalies, and outcome. The literature was reviewed for prior reports of horseshoe adrenal gland.Results. Horseshoe adrenal gland was identified in five infants by sonography and one by CT, the latter confirmed by autopsy. In all cases, the horseshoe adrenal gland was pre-aortic. Besides features of asplenia syndrome, one infant also had associated vertebral anomalies and bilateral renal agenesis. Including the current cases, of 65 reported cases of horseshoe adrenal gland 34 (52%) were associated with asplenia, 24 (37%) with neural tube defects, 19 (29%) with renal anomalies, and 2 (3%) with Cornelia de Lange syndrome. Horseshoe adrenal gland has not been reported with polysplenia syndrome.Conclusions. Horseshoe adrenal gland is a less common manifestation of asplenia that may be demonstrated by imaging. Horseshoe adrenal gland may be a differentiating feature between asplenia and polysplenia. (orig.)

  11. Genetic Causes in Adrenal or Ovarian Hyperandrogenism in the Reproductive Years

    Directory of Open Access Journals (Sweden)

    Bals-Pratsch M

    2009-01-01

    Full Text Available Hyperandrogenism and androgenisation frequently occur within families so that a monogenic cause such as congenital adrenal hyperplasia (CAH must be considered. For the most part, classical CAH is first diagnosed and treated on the basis of common sex development disorders in early childhood by pediatric endocrinologists. In contrast, the non-classic "late-onset CAH" is mostly symptomatic by androgenisation from the age of puberty. For both forms, the final diagnosis relies on the evidence of a CYP21 gene mutation. Even though the incidence of CAH in newborns with a ratio of 1:5000 is rare, the frequency of heterozygotes in central Europe is relatively prevalent with 1:50. In patients with hyperandrogenism of adrenal origin who desire children, a CYP21 mutation should therefore be excluded. In case of a known mutation carrier, the CYP21 gene diagnostic also should be applied on the partner. If both partners are genetic carriers, a dexamethasone (DEX therapy of the pregnant woman should be considered very early in each case immediately after determining a pregnancy to prevent serious virilization of the external genitalia of female CAH fetuses. A common differential diagnosis is androgenisation through ovarian hyperandrogenism. For many years, candidate genes for the polycystic ovary syndrome (PCOS have been investigated. The search focuses on genes involved in the regulation of insulin, follicle maturation as well as androgen secretion and regulation. Especially promising is a gene polymorphism on chromosome 19p13.2 in association with insulin resistance and disordered β-cell functions. Examinations of polymorphisms in FSH receptor genes make one expect that the effective gonadotropin dose in ovarian stimulation can be individually determined before treatment. Thus, severe hyperstimulation syndromes in PCOS patients possibly can be avoided. One might anticipate that new results in molecular genetic PCOS research in the upcoming years will lead

  12. Imaging of adrenal disorders

    International Nuclear Information System (INIS)

    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.)

  13. MRI of adrenal masses

    International Nuclear Information System (INIS)

    The diagnostic usefulness of MRI was evaluated on 38 adrenal masses. The most important finding differentiating adenomas from metastases was the size of the tumor and the signal intensity of the mass. Adenomas showed a tendency to be smaller and homogeneous in signal intensity. On MRI with Gd-DTPA adenomas also showed moderate homogeneous enhancement, but metastases were inhomogeneously enhanced. The detectability by MRI was almost comparable with CT. Three cases of small adenomas and hyperplasia 1-1.5 cm in diameter were detectable only with CT. MRI seems to be complementary to CT in the diagnosis of adrenal masses. (author)

  14. Clinical features and StAR gene mutations in children with congenital lipoid adrenal hyperplasia%先天性类脂质性肾上腺皮质增生症临床特点及StAR基因突变分析

    Institute of Scientific and Technical Information of China (English)

    谢婷; 郑纪鹏; 黄永兰; 樊春; 吴冬燕; 谭敏沂; 李秀珍; 程静; 刘丽

    2015-01-01

    This article reported the clinical manifestations, steroid proifles and adrenal ultrasound ifndings in two unrelated Chinese girls with lipoid congenital adrenal hyperplasia (LCAH). Direct DNA sequencing and restriction fragment length polymorphism (RFLP) analysis were used to identify the mutations of steroidogenic acute regulatory protein (StAR) gene. The two patients with 46,XX karyotype, presented hyperpigmentation, growth retardation, and hyponatremia. Steroid profiles analysis revealed elevated plasma adrenocorticotrophic hormone levels, decreased or normal serum cortisol levels and low levels of androgens. Ultrasound examinations revealed that enlarged adrenals in patient 1 and normal adrenals in patient 2. Direct DNA sequencing of StAR gene showed a reported homozygous for c.772C>T(p.Q258X) in patient 1. Compound heterozygous for c.367G>A(p.E123K) and IVS4+2T>A (both novel mutations) were found in patient 2, inherited from her mother and father respectively. The amino acid of mutant position of the novel p.E123K was highly conserved in ten different species and was predicted to have impacts on the structure and function of StAR protein by the PolyPhen-2 prediction software. RFLP analysis revealed three bands (670, 423 and 247 bp) in patient 2 and her father and two bands (423 and 247 bp) in her mother and 50 controls. It is concluded that LCAH should be considered in girls with early onset of adrenal insufifciency and that steroid proifles, karyotype analysis, adrenal ultrasound and StAR gene analysis may be helpful for the deifnite diagnosis of LCAH.%该文回顾性分析2例先天性类脂质性肾上腺皮质增生症(LCAH)患儿的临床表现、类固醇激素谱及影像学检查结果,采用DNA直接测序法及限制性片段长度多态性(RFLP)技术对类固醇生成急性调节蛋白(StAR)基因突变进行分析。2例患儿均为46,XX女性,确诊年龄分别为4个月及2岁4个月。婴儿早期出现皮肤色素沉着、

  15. Adrenal pseudocyst. Radiological finds

    International Nuclear Information System (INIS)

    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)

  16. MR differentiation of adrenal masses

    International Nuclear Information System (INIS)

    Introduction of computed tomography have resulted in the identification during life of clinically silent adrenal masses as small as 5 mm in diameter in from 1-10% of patients studied for reasons other than suspected adrenal disease. MRI enables differentiation between benign (adrenal adenoma) and malignant adrenal masses (primary or metastatic). This discrimination is based on T2 weighted images (specificity about 70%), and enhancement patterns in dynamic study after administration of contrast agent (specificity about 90%). The most specific (above 90%) is, recently employed to examination of adrenal masses, chemical shift imaging, which determines the content of fat in the lesion. Pheochromocytoma has characteristic appearance on MRI, which enables differentiation from adrenal adenoma with specificity about 95%. MRI of adrenal masses has been dynamically developing, enabling noninvasive, more and more specific differentiation. (author)

  17. [Congenital thrombophilia].

    Science.gov (United States)

    Kojima, Tetsuhito

    2016-03-01

    Congenital thrombophilia is a thrombotic diathesis caused by a variety of genetic abnormalities in blood coagulation factors or their inhibitory factors associated with physiological thrombus formation. Patients with congenital thrombophilia often present with unusual clinical episodes of venous thrombosis (occasionally combined with pulmonary embolism, known as venous thromboembolism) at a young age and recurrence in atypical vessels, such as the mesenteric vein and superior sagittal sinus, often with a family history of this condition. Studies in Japan as well as in western countries have shown congenital thrombophilia to be caused by a wide variety of genetic abnormalities in natural anticoagulant proteins, such as antithrombin, protein C, and protein S. However, there may still be many unknown causes of hereditary thrombosis. We recently reported a case of hereditary thrombosis induced by a novel mechanism of antithrombin resistance, that is, congenital thrombophilia caused by a gain-of-function mutation in the gene encoding the coagulation factor prothrombin. PMID:27076244

  18. Congenital toxoplasmosis

    Science.gov (United States)

    Congenital toxoplasmosis is a group of symptoms that occur when an unborn baby (fetus) is infected with the parasite ... Toxoplasmosis infection can be passed to a developing baby if the mother becomes infected while pregnant. The ...

  19. Congenital syphilis

    Science.gov (United States)

    Congenital syphilis is caused by the bacteria Treponema pallidum , which is passed from mother to child during fetal development or at birth. Nearly half of all children infected with syphilis while they ...

  20. Bilateral primary adrenal lymphoma presenting with adrenal insufficiency

    DEFF Research Database (Denmark)

    Holm, Jakob; Breum, Leif; Stenfeldt, Katrine; Friberg Hitz, Mette

    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. The...... immuneohistochemical diagnosis was large B-cell lymphoma. This case should remind clinicians that PAL may be a cause of bilateral adrenal incidentaloma especially if the patient presents with adrenal insufficiency....

  1. How Many People Are Affected by or at Risk of Adrenal Gland Disorders?

    Science.gov (United States)

    ... people affected depends on the specific disorder. Cushing’s Syndrome Cushing’s syndrome is uncommon, affecting about 10 to 15 out ... Related A-Z Topics Congenital Adrenal Hyperplasia (CAH) Cushing Syndrome Newborn Screening All related topics NICHD News and ...

  2. Kinetics of adrenal medullary cells.

    OpenAIRE

    Verhofstad, A A

    1993-01-01

    The adrenal medulla of mammals has a heterogeneous population of cells. In adults most are epithelial cells containing a particular type of cytoplasmic granule. Based on a variety of cytochemical and ultrastructural studies it is now accepted that 2 different adrenal medullary chromaffin cell types can be distinguished, i.e. noradrenaline (NA) and adrenaline (A) synthesising and storing cells. Other cell types present in the adrenal medulla include neuronal elements comprising either cell bod...

  3. Adrenal paragonimiasis simulating adrenal tumor--a case report.

    OpenAIRE

    Hahn, S. T.; Park, S. H.; Kim, C. Y.; Shinn, K. S.

    1996-01-01

    We describe a case of adrenal paragonimiasis with its computed tomographic and ultrasonographic findings. Computed tomogram showed a well enhancing oval mass at right adrenal gland and ultrasonogram showed a dumbbell-shaped hyperechoic mass saddling on the top of the right kidney. Surgical specimen was multicystic mass filled with creamy material.

  4. Congenital Leukemia

    OpenAIRE

    Raj, Aishwarya; Talukdar, Sewali; Das, Smita; Gogoi, Pabitra Kumar; Das, Damodar; Bhattacharya, Jina

    2013-01-01

    Congenital leukemia is a rare but a well-documented disease in which leukemic process is detected at birth or very shortly thereafter (Philip McCoy and Roy Overton, Commun Clin Cytom 22:85–88, 1995). These leukemias represent approximately 0.8 % of all childhood leukemias. We present a case of congenital acute myeloid leukemia manifesting from the very first day of birth. Diagnosis of acute myeloid leukemia was suspected by the presence of blasts in the peripheral blood smear and was confirme...

  5. Prenatal diagnosis of congenital mesoblastic nephroma.

    Science.gov (United States)

    Do, A Young; Kim, Jung-Sun; Choi, Suk-Joo; Oh, Soo-Young; Roh, Cheong-Rae; Kim, Jong-Hwa

    2015-09-01

    Congenital mesoblastic nephroma is a rare renal tumor that is diagnosed during pregnancy and is associated with polyhydramnios, prematurity, and neonatal hypertension. Differential diagnoses include Wilms tumor, adrenal neuroblastoma, and other abdominal tumors. We report a case of congenital mesoblastic nephroma detected by prenatal ultrasonography as a large fetal renal mass with polyhydramnios at 32 weeks of gestation. Ultrasonography showed a 6×6-cm complex, solid, hyperechoic, round mass in the right kidney. At 35 weeks of gestation, the patient was admitted with preterm premature rupture of membranes and the baby was delivered vaginally. Postnatal ultrasonography and computed tomography showed a heterogeneous solid mass on the right kidney. At the end of the first week of life, a right nephrectomy was performed and subsequent pathological examination confirmed a cellular variant of congenital mesoblastic nephroma with a high mitotic count. Postoperative adjuvant chemotherapy was administered. The newborn was discharged in good condition. PMID:26430667

  6. Leiomyosarcoma of the Adrenal Vein

    Directory of Open Access Journals (Sweden)

    I-Hung Shao

    2012-10-01

    Full Text Available Leiomyosarcoma of the adrenal gland is extremely rare in the literature. We present a patient with an adrenal leiomyosarcoma originating from the adrenal vein, the pathologic findings and management. A 66-year-old man who was a hepatitis B virus carrier was found to have a huge left suprarenal mass on sonography and computed axial tomography. A huge tumor in the left suprarenal area with a markedly engorged adrenal vein was found during an adrenalectomy. The tumor thrombus extended into the renal vein, close to the inferior vena cava. The left adrenal gland with the whole tumor thrombus was removed completely. Microscopically, the adrenal gland was compressed but not invaded by the spindle cell tumor, which was composed of interlacing fascicles of neoplastic smooth muscle cells. The tumor was localized within the adrenal vein and arose from the venous wall. The patient had no local recurrence for 18 months after en bloc excision of the tumor. We suggest that en bloc excision with a clear and adequate surgical margin is the most important cure procedure for adrenal leiomyosarcoma.

  7. ADRENAL INCIDENTALOMAS: ANALYSIS OF 126 CASES

    Institute of Scientific and Technical Information of China (English)

    李汉忠; 严维刚; 曾正陪; 肖河; 冯超; 王惠君

    2003-01-01

    Purpose. To evaluate the diagnosis and treatment of adrenal incidentalomas. Methods. One hundred and twenty-six patients with incidentalomas were analyzed, among them 98 underwent operation. Results. Eighty-eight of the adrenal incidentalomas were discovered by ultrasound. Of all the types of adrenal incidentalomas, 52 (41.3%) of them were adenomas; 43 (34.1%) were hypersecretory adrenal tumors, including 29 pheochromocytomas, 9 primary aldosteronisms, 1 adrenogenitol syndrome combined with adrenal adenoma, 2 Cushing's syndrome combined with adenomas and 2 Cushing's syndrome combined with nodular hyperplasias. All nonhypersecretory adrenal adenomas were under 6 cm, and all adrenal carcinomas were above 6 cm.Conclusions. To search for hypersecretory adrenal tumors and to detect malignant adrenal tumors are quite essential in the process of diagnosing adrenal incidentalomas. For nonhypersecretory adrenal adenomas, the size of tumor is the most important index in determining whether the tumor is benign or malignant and whether the tumor needs to be treated with operation.

  8. Giant adrenal cyst: case study.

    Science.gov (United States)

    Poiana, Catalina; Carsote, Mara; Chirita, Corina; Terzea, Dana; Paun, S; Beuran, M

    2010-01-01

    One of the rarest situations regarding an adrenal incidentaloma is an adrenal cyst. We present the case of a 61-year-old male patient diagnosed with peritonitis. During surgery, a right adrenal tumor of 2 cm is discovered. The patient was referred to endocrinology. 6 months later the diameter of the tumor is 7 times bigger than the initial stage. It has no secretory phenotype, except for the small increase of serum aldosterone and the 24-h 17-ketosteroids. Open right adrenalectomy is performed and a cyst of 15 cm is removed. The evolution after surgery is good. The pathological exam reveals an adrenal cyst with calcifications and osteoid metaplasia. The immunohistochemistry showed a positive reaction for CD34 and ACT in the vessels and VIM in the stroma. The adrenal cysts are not frequent and represent a challenge regarding the preoperative diagnostic and surgical procedure of resection. The pathological exam highlights the major aspects. PMID:20945822

  9. MR imaging of adrenal masses

    International Nuclear Information System (INIS)

    Signal intensity (SI) ratios and T2 values of 23 adrenal masses were analyzed using 1. 5 tesla MR imaging system to evaluate these capabilities for tissue characterization. They included 11 nonhyperfunctioning adenomas, 4 hyperfunctioning adenomas, 1 nodular hyperplasia, 3 metastatic tumors, and 4 pheochromocytomas. SI ratios of adrenal/fat, adrenal/liver, and adrenal/muscle on both T1-weighted images (WI) and T2-WI were obtained in each adrenal mass. The T2 values of adrenal masses were calculated with two echo sequences. In results, SI ratios on both T1-WI and T2-WI were not useful in the differentiation of metastatic tumors from adenomas. The calculated T2 value was more relaible. All 14 masses with a T2 value less than 60 msec were adenomas, and 4 masses with a T2 value of 60 msec or more included one adenoma and 3 metastatic tumors. The T2 value of 1 nodular hyperplasia was 58 msec and the T2 values of all 4 pheochromocytomas were over 70 msec. There were no significant differences in SI ratios and T2 value between nonhyperfunctioning and hyperfunctioning adenomas. Therefore, the T2 value is more accurate than SI ratios for tissue characterization of adrenal masses at 1. 5 tesla. Although the T2 value correlated well with the size of mass, whether it depends on mass size or tissue character remains controversial. (author)

  10. Congenital Anomalies in Infant with Congenital Hypothyroidism

    OpenAIRE

    Zahra Razavi; Alireza Yavarikia; Saadat Torabian

    2012-01-01

    bjective: Congenital hypothyroidism is characterized by inadequate thyroid hormone production in newborn infants. Many infants with CH have co-occurring congenital malformations. This is an investigation on the frequency and types of congenital anomalies in infants with congenital hypothyroidism born from May 2006-2010 in Hamadan, west province of Iran.Methods: The Iranian neonatal screening program for congenital hypothyroidism was initiated in May 2005. This prospective descriptive study wa...

  11. Adrenal hemorrhage following liver transplantation

    International Nuclear Information System (INIS)

    Liver transplantation ordinarily entails sacrificing the right adrenal vein. In seven patients (about 2% of liver recipients) ultrasound (US) and/or computed tomography (CT) revealed right adrenal hemorrhages, detected an average of 6 days postoperatively. Hemorrhages on US scans were initially echogenic and became hypoechoic or anechoic with time. On CT scans, most were centrally hypodense with a peripheral rim of higher attenuation. No calcification developed. Hemorrhages were ovoid in shape and 2.5-4.5 cm in maximum diameter, and they resolved in 3-11 weeks in transplant survivors. These adrenal hemorrhages should be recognized and documented but usually should be left alone; complications are rare

  12. Extra adrenal retroperitoneal paragangliomas

    International Nuclear Information System (INIS)

    Extra adrenal retroperitoneal paragangliomas are very uncommon tumors that are easily diagnosed on the basis of clinical signs when they are functioning. However, imaging techniques are indispensable tools for locating them for surgical treatment. Our objective is to compare the CT and MR findings to determine, in the latter case, the sequences of choice for this purpose, as well as the advantages and disadvantages of each. We studied retrospectively six patients by CT, ultrasonography, metaiodobenzyl guanidine (MIBG) scintipgraphy and MR, evaluating the diagnostic value of these procedures. CT was found to be useful because of its diagnostic sensitivity. The strong MR signal that characterizes these tumors and its spatial resolution make this test indispensable for the detection of small paragangliomas and those difficult to located by CT. We consider MR to be the technique of choice because of its marked sensitivity and multiplanar capacity for the diagnosis of tumors that are specially difficult because of their size or location. (Author) 18 refs

  13. Adrenal Cyst Presenting as Hepatic Hydatid Cyst

    OpenAIRE

    Abdulla Darwish; Veena Nagaraj; Mohmmed B. Mustafa; Ahmed Al Ansari

    2013-01-01

    Introduction. Although adrenal cysts are uncommon, the incidence rate is increasing with the advances in radiological technologies. The incidental detection of adrenal cysts nowadays has become more frequent as a result of the increase usage of high quality imaging modalities. Adrenal cysts originate from the adrenal gland and can be classified into either true or pseudocyst. Presentation of Case. In this report, we described an adrenal cyst of endothelial type, in a 30-year-old lady who was ...

  14. Congenital diplopodia

    Energy Technology Data Exchange (ETDEWEB)

    Brower, Jason S.; Wootton-Gorges, Sandra L.; Costouros, John G.; Boakes, Jennette; Greenspan, Adam [University of California, Davis, Department of Radiology, 4860 Y. Street, Suite 3100, CA 95817, Davis (United States)

    2003-11-01

    Diplopodia, or duplicated foot, is a rare congenital anomaly. It differs from polydactyly in that supernumerary metatarsal and tarsal bones are present as well as extra digits. Only a few cases of this anomaly have been reported in the literature to date. We present a newborn male without intrauterine teratogen exposure who was born with a duplicate foot of the left lower extremity and imperforate anus. (orig.)

  15. Clinical experience with the adrenal scanning agents iodine 131-19-iodocholesterol and selenium 75-6-selenomethylcholesterol

    Energy Technology Data Exchange (ETDEWEB)

    Reschini, E. (Ospedale Maggiore, Milan (Italy). Dept. of Nuclear Medicine); Catania, A. (Milan Univ. (Italy). 1. Medical Clinic)

    1991-10-01

    Adrenocortical scintigraphy with iodine 131-19-iodocholesterol or selenium 75-6-selenomethylcholesterol was performed in 94 patients with proven or suspected adrenal disease. This revealed that 36 patients suffered from primary aldosteronism, 33 from Cushing's syndrome, 8 from low renin hypertension, 6 from non-functioning adrenal tumor, 4 from simple obesity, 3 from adrenal metastases, 1 from congenital adrenal hyperplasia, 1 from virilizing adrenal adenoma, 1 from extraadrenal pheochromocytoma, 1 from ganglioneuroma. Surgical confirmation of the diagnosis was obtained in most cases. With a few exceptions, the scintigraphy results were consistent with the final diagnosis. The two tracers were equally effective adrenal scanning agents. Tracer concentration was measured in a number of surgical specimens, mostly from patients given selenocholesterol. This measurement in surgical samples has not been reported in previous studies with this agent. The results provided a direct validation of uptake measurements in vivo. The data, collected over a 17-year period, demonstrate that despite the advent of new imaging techniques, adrenal scintigraphy that gives both functional and morphologic information still has an important role in the diagnosis of adrenal disease. (orig.).

  16. MR imaging in adrenal diseases

    International Nuclear Information System (INIS)

    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

  17. Identification of a novel large CYP17A1 deletion by MLPA analysis in a family with classic 17α-hydroxylase deficiency.

    Science.gov (United States)

    Turkkahraman, Doga; Guran, Tulay; Ivison, Hannah; Griffin, Aliesha; Vijzelaar, Raymon; Krone, Nils

    2015-01-01

    Steroid 17α-hydroxylase deficiency (17OHD) is a rare form of congenital adrenal hyperplasia caused by mutations in the 17α-hydroxylase ( CYP17A1) gene. CYP17A1 is a key enzyme in the biosynthesis of adrenal and gonadal steroid hormones facilitating both 17α-hydroxylase and 17,20-lyase activities. We characterized a partial CYP17A1 deletion in a Kurdish family with 17OHD by multiplex ligation-dependent probe amplification (MLPA). The index patient presented with amenorrhea and lack of pubertal development. Investigations established the diagnosis of 46,XY disorder of sex development (DSD). She is the daughter of consanguineous parents and has 2 sisters with similar clinical presentation. All patients showed biochemical signs of primary adrenal and gonadal insufficiency. The molecular genetic analysis by PCR suggested a deletion spanning exons 1–6 of the CYP17A1 gene. MLPA analysis confirmed the large partial CYP17A1 deletion in patients and parents in homozygous and heterozygous state, respectively. This is the first report employing MLPA for mutation analysis to detect a deletion of CYP17A1 spanning multiple exons in 3 patients with classic 17OHD. Therefore, it is important to consider large partial CYP17A1 deletions in 17OHD in addition to point mutations in cases where no segregation analysis is possible to determine the correct genotype. PMID:25765894

  18. Addiction and the adrenal cortex

    OpenAIRE

    Vinson, Gavin P; Brennan, Caroline H.

    2013-01-01

    Substantial evidence shows that the hypophyseal–pituitary–adrenal (HPA) axis and corticosteroids are involved in the process of addiction to a variety of agents, and the adrenal cortex has a key role. In general, plasma concentrations of cortisol (or corticosterone in rats or mice) increase on drug withdrawal in a manner that suggests correlation with the behavioural and symptomatic sequelae both in man and in experimental animals. Corticosteroid levels fall back to normal values in resumptio...

  19. 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.

  20. Congenital syphilis

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Sang Wook; Kim, Kyung Soo; Hur, Don [Chosun University College of Medicine, Kwangju (Korea, Republic of)

    1983-12-15

    In recent years, marked increase in incidence of congenital syphilis has occurred throughout the world due to changes in social norms and development of penicillin-resistant strains. Early diagnosis plays an important role in congenital syphilis as the clinical manifestations may simulate many other conditions in the paediatric age group. The authors analyzed 52 cases of congenital syphilis admitted to the department of paediatrics, Chosun University Hospital, clinically and radiologically. Among them, 18 cases were born in this hospital and 34 cases were admitted from OPD, during the period of 8 years from January, 1975 to December, 1982. The results obtained were as follows; 1. In 28 of 34 cases (82%), the first clinical manifestations were below the age of 3 months. 2. Among the 52 cases, a male predominance was observed with a male to female ratio of 2 : 1. 3. The serologic test (VDRL) of the 52 studied cases showed reactive response in 49 cases (94%), and that of syphilitic mothers except 6 cases, reactive in all studied cases. 4. The major manifestations of the 52 cases were bone tenderness (12%) and swelling of the joints (7%) in skeletal system, hepatosplenomegaly (79%) and skin lesions (73%) in extraskeletal one. 5. The radiological skeletal changes were detected in 45 of 52 cases (87%), and the commonest findings were detected in 45 of 52 cases (87%), and the commonest findings were metaphysitis (83%) and periostitis (81%). The most characteristic type of metaphysitis were transverse trophic line (74%) and zone of rarefaction (65%). 6. The commonest bones to be affected were growing metaphyses of the long bones, particulary about the wrist and the knee. The order of frequency were radius (80%), uina (80%), tibia (77%), femur (69%) and humerus (40%)

  1. Congenital syphilis

    International Nuclear Information System (INIS)

    In recent years, marked increase in incidence of congenital syphilis has occurred throughout the world due to changes in social norms and development of penicillin-resistant strains. Early diagnosis plays an important role in congenital syphilis as the clinical manifestations may simulate many other conditions in the paediatric age group. The authors analyzed 52 cases of congenital syphilis admitted to the department of paediatrics, Chosun University Hospital, clinically and radiologically. Among them, 18 cases were born in this hospital and 34 cases were admitted from OPD, during the period of 8 years from January, 1975 to December, 1982. The results obtained were as follows; 1. In 28 of 34 cases (82%), the first clinical manifestations were below the age of 3 months. 2. Among the 52 cases, a male predominance was observed with a male to female ratio of 2 : 1. 3. The serologic test (VDRL) of the 52 studied cases showed reactive response in 49 cases (94%), and that of syphilitic mothers except 6 cases, reactive in all studied cases. 4. The major manifestations of the 52 cases were bone tenderness (12%) and swelling of the joints (7%) in skeletal system, hepatosplenomegaly (79%) and skin lesions (73%) in extraskeletal one. 5. The radiological skeletal changes were detected in 45 of 52 cases (87%), and the commonest findings were detected in 45 of 52 cases (87%), and the commonest findings were metaphysitis (83%) and periostitis (81%). The most characteristic type of metaphysitis were transverse trophic line (74%) and zone of rarefaction (65%). 6. The commonest bones to be affected were growing metaphyses of the long bones, particulary about the wrist and the knee. The order of frequency were radius (80%), uina (80%), tibia (77%), femur (69%) and humerus (40%)

  2. Congenital Anomalies in Infant with Congenital Hypothyroidism

    Directory of Open Access Journals (Sweden)

    Zahra Razavi

    2012-09-01

    Full Text Available bjective: Congenital hypothyroidism is characterized by inadequate thyroid hormone production in newborn infants. Many infants with CH have co-occurring congenital malformations. This is an investigation on the frequency and types of congenital anomalies in infants with congenital hypothyroidism born from May 2006-2010 in Hamadan, west province of Iran.Methods: The Iranian neonatal screening program for congenital hypothyroidism was initiated in May 2005. This prospective descriptive study was conducted in infants diagnosed with congenital hypothyroidism being followed up in Pediatric Endocrinology Clinicof Besat Hospital, a tertiary care centre in Hamadan. Cases included all infants with congenital hypothyroidism diagnosed through newborn screening program or detected clinically. Anomalies were identified by clinical examination, echocardiography, and X-ray of the hip during the infant’s first year of life.Results: A total of 150 infants with biochemically confirmed primary congenital hypothyroidism (72 females and 78 males were recruited during the period between May 2006-2010. Overall, 30 (20% infants had associated congenital anomalies. The most common type of anomaly was Down syndrome. Seven infants (3.1% had congenital cardiac anomalies such as: ASD (n=3, VSD (n=2, PS (n =1, PDA (n=1. Three children (2.6% had developmental displasia of the hip (n=3.Conclusion: The overall frequency of Down syndrome, cardiac malformation and other birth defect was high in infants with CH. This reinforces the need to examine all infants with congenital hypothyroidism for the presence of associated congenital anomalies.

  3. Radiological diagnosis of adrenal lesions

    International Nuclear Information System (INIS)

    Among all the radiological examination techniques, CT is today, besides scintigraphy, the method of choice as far as the detection of functional adrenal lesions is concerned. In primary aldosteronism, CT classification of the syndrome is based on the detection of an adenoma which can be reliably detected in adenoma sizes up to 8-10 mm. Thus, 70 to 80% of Conn's syndromes can be classified. In adrenal Cushing's syndrome, the distinction between adenoma and carcinoma of the adrenal gland is up to CT and can usually be easily made due to the characteristic morphology of each type of lesion. In case of a typcial adrenal or juxtaadrenal tumor location, detection of a pheochromocytoma is likewise easy. In ectopic and multiple pheochromocytomas or such as occur as part of a MEN-syndrome, the situation is quite different. If lesions of the adrenal gland are found by accident in examinations otherwise indicated, the question arises whether the process is malignant or benign. In this respect, all the traditional imaging methods, including CT, involve a considerable factor or uncertainity, especially if a malignant tumor is anamnestically known and the question of metastases arises. According to recent information, MR-imaging seems to be advantageous concerning this difficult differential diagnosis. (orig.)

  4. STUDY OF A TYPICAL PRESENTATIONS IN CONGENITAL DIAPHRAGMATIC HERNIA

    OpenAIRE

    Venkata Ramana; Srilakshmi; Rao; Kameswari

    2015-01-01

    AIM: To study the clinical features and outcome of congenital Diaphragmatic Hernias with atypical presentation in Paediatric age group. Children with Eventration of Diaphragm are also included in the present study. RESULTS : 20 cases of Diaphragmatic Hernia presented with classical presentation, 4 cases with atypical Presentation and a case with recurrent diaphragmatic hernia. Atypical presentations in congenital Diaphragmatic Hernia are Stomach Volvulus and Malrotati ...

  5. Adrenal oncoctyoma of uncertain malignant potential: a rare etiology of adrenal incidentaloma.

    Science.gov (United States)

    Kedia, Rohit R; Muinov, Lucy; Lele, Subodh M; Shivaswamy, Vijay

    2016-03-01

    A rare cause for rapid adrenal enlargement is adrenal oncocytoma of uncertain malignant potential. A full biochemical evaluation is warranted to screen secreting adrenal adenomas as well as to evaluate adrenal cortical carcinoma. Careful pathologic evaluation is required as the diagnosis of AOC cannot be made by imaging. PMID:27014458

  6. Cushing syndrome due to adrenal tumor

    Science.gov (United States)

    Adrenal tumor - Cushing syndrome ... Cushing syndrome is a disorder that occurs when your body has a higher than normal level of the ... or cancerous (malignant). Noncancerous tumors that can cause ... Adrenal adenomas Micronodular hyperplasia Cancerous tumors that ...

  7. Imaging features of primary adrenal lymphoma

    Institute of Scientific and Technical Information of China (English)

    WANG Jun-ping; SUN Hao-ran; LI Ya-jun; BAI Ren-ju; GAO Shuo

    2009-01-01

    @@ Secondary involvement of the adrenal glands with non-Hodgkin's lymphoma (NHL) has been reported to occur in up to 25% of patients during the course of disease. However, primary adrenal lymphoma (PAL) is very rare.

  8. A case of unilateral adrenal medullary hyperplasia.

    Directory of Open Access Journals (Sweden)

    Maki,Yoshio

    1989-10-01

    Full Text Available We report a case of unilateral hyperplasia of the adrenal medulla. The patient showed clinical features suggestive of pheochromocytoma. Removal of the hyperplastic adrenal gland resulted in complete disappearance of all prior symptoms, decrease of the plasma and urinary catecolamine levels and no high uptake in [133I] metaiodobenzylguanidine scintigraphy. A histological study revealed diffuse hyperplasia of the adrenal medulla. Up to now, there are relatively few reports of adrenal medullary hyperplasia in English literatures.

  9. Recurrence of adrenal aldosterone-producing adenoma

    OpenAIRE

    Calvo-Romero, J. M.; Ramos-Salado, J. L.

    2000-01-01

    Conn's syndrome (adrenal aldosterone-producing adenoma) and bilateral adrenal hyperplasia are the most common causes of primary aldosteronism. The treatment of choice for patients with aldosterone-producing adenoma is unilateral total adrenalectomy. Recurrence after adequate surgery is exceptional. We present a patient with recurrence of an aldosterone-producing adenoma in the right adrenal gland 9 years after adenomectomy of a aldosterone-producing adenoma in the same adrenal gland. We concl...

  10. Control of adrenal androgen production.

    Science.gov (United States)

    Odell, W D; Parker, L N

    The major adrenal androgens are dehydroepiandrosterone (DHEA), dehydroepiandrosterone sulphate (DHEAS) and androstenedione (delta 4). Studies by Cutler et al in 1978 demonstrated that these androgens are detectable in blood of all domestic and laboratory animals studied, but that only 4 species show increase in one or more with sexual maturation: rabbit, dog, chimpanzee and man. Studies by Grover and Odell in 1975 show these androgens do not bind to the androgen receptor obtained from rat prostate and thus probably are androgens only by conversion to an active androgen in vivo. Thomas and Oake in 1974 showed human skin converted DHEA to testosterone. The control of adrenal androgen secretion is in part modulated by ACTH. However, other factors or hormones must exist also, for a variety of clinical observations show dissociation in adrenal androgen versus cortisol secretion. Other substances that have been said to be controllers of adrenal androgen secretion include estrogens, prolactin, growth hormone, gonadotropins and lipotropin. None of these appear to be the usual physiological modulator, although under some circumstances each may increase androgen production. Studies from our laboratory using in vivo experiments in the castrate dog and published in 1979 indicated that crude extracts of bovine pituitary contained a substance that either modified ACTH stimulation of adrenal androgen secretion, or stimulated secretion itself - Cortisol Androgen Stimulating Hormone. Parker et al in 1983 showed a 60,000 MW glycoprotein was extractable from human pituitaries, which stimulated DHA secretion by dispersed canine adrenal cells in vitro, but did not stimulate cortisol secretion. This material contained no ACTH by radioimmunoassay. In 1982 Brubaker et al reported a substance was also present in human fetal pituitaries, which stimulated DHA secretion, but did not effect cortisol. PMID:6100259

  11. Congenital hypothyroidism

    Directory of Open Access Journals (Sweden)

    Pankaj Agrawal

    2015-01-01

    Full Text Available Congenital hypothyroidism (CH is the one of the most common preventable cause of mental retardation. In the majority of patients, CH is caused by an abnormal development of the thyroid gland (thyroid dysgenesis that is a sporadic disorder and accounts for 85% of cases and the remaining 15% of cases are caused by dyshormonogenesis. The clinical features of congenital hypothyroidism are so subtle that many newborn infants remain undiagnosed at birth and delayed diagnosis leads to the most severe outcome of CH, mental retardation, emphasizing the importance of neonatal screening. Dried capillary blood is used for screening and it is taken from heel prick optimally between 2 and 5 days of age. Blood spot TSH or thyroxine (T4 or both are being used for CH screening in different programs around the world. Neonates with abnormal thyroid screening tests should be recalled immediately for examination and a venipuncture blood sample should be drawn for confirmatory serum testing. Confirmatory serum should be tested for TSH and free T4, or total T4. Serum TSH and T4 undergo dynamic changes in the first weeks of life; it is important to compare serum results with age-normal reference ranges. Treatment should be started promptly and infant should be rendered euthyroid as early as possible, as there is an inverse relationship between intelligence quotient (IQ and the age at diagnosis. Levothyroxine (l-thyroxine is the treatment of choice and American academy of pediatrics and European society of pediatric endocrinology recommend 10-15μgm/kg/day as initial dose. The immediate goal of therapy is to normalize T4 within 2 weeks and TSH within one month. The overall goal of treatment is to ensure growth and neurodevelopmental outcomes as close as possible to their genetic potential.

  12. Adrenomyeloneuropathy associated with congenital cataract

    International Nuclear Information System (INIS)

    Two cases of adrenomyeloneuropathy (AMN) in a family and the results of their MRI study are reported. Case 1, a 24-year-old male proband, was admitted to our hospital because of gait disturbance for three years. Bilateral cataracts were pointed out at birth, which required left side lenticotomy at age four. Neurological examinations on admission revealed a marked spastic paraparesis with pathological reflexes and a mild hypesthesia in the distal part of the left leg. No abnormal findings were detected in X-ray studies on the spine and spinal cord, electromyography and nerve conduction test. Serum very long chain fatty acids (VLCFAs) levels were apparently elevated, and the serum cortisol response to ACTH was low. Case 2, a 53-year-old woman, is the mother of Case 1 having a complaint of gait disturbance since age 51. She presented a mild spastic paraparesis with localized hypesthesia in the distal part of the both legs. She also had bilateral congenital cataracts. Her serum VLCFAs analysis indicated the intermediate levels between that of AMN and the normal control. Adrenal functions were normal. Cranial MRI (TR 2,000 msec/TE 80 msec) study disclosed high signal intensity areas in bilateral internal capsules in Case 1. These findings, suggesting the pathological change of dysmyelination, seemed to be well compatible with the clinical pictures. With these clinical findings and the laboratory data, these two cases were diagnosed as AMN. In addition, association of congenital cataract with AMN in both cases was characteristic in this family, which hasn't been reported in the literature. On regarding the genetic background of these two disorders, AMN and congenital cataract, it was speculated that each gene could be closely located on the same or very adjacent locus, possibly on Xq. (author)

  13. Differential diagnosis of adrenal gland masses

    International Nuclear Information System (INIS)

    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.)

  14. Principles and management of adrenal cancer

    International Nuclear Information System (INIS)

    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)

  15. Adrenal regeneration hypertension prevented by thyroidectomy: a quantitative ultrastructural study of the regenerating adrenal cortex.

    OpenAIRE

    Conran, R. M.; Nickerson, P A

    1980-01-01

    Thyroparathyroidectomy (TPX) prevents adrenal regeneration hypertension (ARH) in female rats and concomitantly inhibits regeneration of the adrenal cortex. Removal of the thyroid gland plays the major role in preventing ARH inasmuch as parathyroidectomized adrenal-enucleated (PX-AE) rats became hypertensive, whereas thyroparathyroidectomized adrenal-enucleated rats (TPX-AE + PT) did not. Inhibition of adrenocortical regneration by TPX is reflected by a significant decrease in adrenal weight, ...

  16. Unsuspected adrenal masses in the neonate: Adrenal cortical carcinoma and neuroblastoma

    International Nuclear Information System (INIS)

    Masses involving the adrenal in the neonate are most commonly due to hemorrhage. The literature involving the neonatal adrenal reflects this propensity. Although there have been reports of newborns with neuroblastoma and other tumors, which are more common in older children, ultrasonographic descriptions of masses involving the adrenal secondary to such tumors are rare. Within a 6-month span we have discovered a clinically unsuspected adrenal carcinoma and adrenal neuroblastoma. (orig.)

  17. Adrenal phaeochromocytoma: correlation of MRI appearances with histology and function

    International Nuclear Information System (INIS)

    The purpose of this study was to describe the range of appearances of adrenal phaeochromocytomas on T2-weighted MRI, correlate appearances with histopathology, and quantify the incidence of the previously described hyperintense appearance. The appearance and MR characteristics of 44 phaeochromocytomas were reviewed retrospectively. T2-weighted appearances were grouped: (1) 'classical', homogeneous, high signal intensity, isointense to CSF; (2) homogeneous, isointense or minimally hyperintense to spleen, hypointense to CSF; (3) heterogeneous, marbled appearance; (4) heterogeneous, multiple high signal intensity pockets. All 44 adrenal phaeochromocytomas were well circumscribed, 1.2-15 cm in maximum diameter, with no visual or quantitative signal loss on chemical shift imaging. On T2-weighted MRI 5/44 (11%) had group 1 appearance; 15/44 (34%) group 2, 7/44 (16%) group 3; and 17/44 (39%) group 4. Homogeneous group 1 and 2 lesions were smaller (mean 4.5 cm) than heterogeneous group 3 and 4 lesions (mean 6.3 cm). Increasing MRI heterogeneity correlated pathologically with increasing amounts of haemorrhage, necrosis and fibrosis. No MRI features were predictive of malignancy. Non-functioning phaeochromocytomas were larger than functioning lesions. No size difference was seen between syndrome and sporadic lesions. In this large series we report a wide range of appearances of adrenal phaeochromocytomas on T2-weighted MRI. The previously described classical hyperintense phaeochromocytoma is relatively uncommon. (orig.)

  18. Adrenal pseudocyst. Radiological finds. Pseudoiquiste adrenal. Hallazgos radiologicos

    Energy Technology Data Exchange (ETDEWEB)

    Ortega, E.; Lopez Rasines, G.; Bustos, A.; Otero, M.; Rodriguez, M.I.; Pagola, M.A. (Hospital Nacional Marques de Valdecilla, Santanders (Spain))

    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)

  19. Classical antiparticles

    Energy Technology Data Exchange (ETDEWEB)

    Costella, J.P.; McKellar, B.H.J.; Rawlinson, A.A.

    1997-03-01

    We review how antiparticles may be introduced in classical relativistic mechanics, and emphasize that many of their paradoxical properties can be more transparently understood in the classical than in the quantum domain. (authors). 13 refs., 1 tab.

  20. Magnetic Resonance and adrenal cortex pathology

    International Nuclear Information System (INIS)

    M.R.I. allows a good delineation of adrenals, due to the high contrast with fat and to the use of frontal planes. On post operative adrenal lesions samples the lipid percentages, high in normal and hyperplasic glands, was still high in most benign adenomas, and very low (under 5 %) in adrenal carcinomas. MRI, with Dixon sequence, allows to evaluate this lipid percentage in adrenal lesions. Post-operative controls show a good agreement between in vivo and in vitro measurements. This simple technique should allow to discriminate between malignant and benign adrenal cortex lesions

  1. Congenital hypothyroidism

    Directory of Open Access Journals (Sweden)

    LaFranchi Stephen H

    2010-06-01

    Full Text Available Abstract Congenital hypothyroidism (CH occurs in approximately 1:2,000 to 1:4,000 newborns. The clinical manifestations are often subtle or not present at birth. This likely is due to trans-placental passage of some maternal thyroid hormone, while many infants have some thyroid production of their own. Common symptoms include decreased activity and increased sleep, feeding difficulty, constipation, and prolonged jaundice. On examination, common signs include myxedematous facies, large fontanels, macroglossia, a distended abdomen with umbilical hernia, and hypotonia. CH is classified into permanent and transient forms, which in turn can be divided into primary, secondary, or peripheral etiologies. Thyroid dysgenesis accounts for 85% of permanent, primary CH, while inborn errors of thyroid hormone biosynthesis (dyshormonogeneses account for 10-15% of cases. Secondary or central CH may occur with isolated TSH deficiency, but more commonly it is associated with congenital hypopitiutarism. Transient CH most commonly occurs in preterm infants born in areas of endemic iodine deficiency. In countries with newborn screening programs in place, infants with CH are diagnosed after detection by screening tests. The diagnosis should be confirmed by finding an elevated serum TSH and low T4 or free T4 level. Other diagnostic tests, such as thyroid radionuclide uptake and scan, thyroid sonography, or serum thyroglobulin determination may help pinpoint the underlying etiology, although treatment may be started without these tests. Levothyroxine is the treatment of choice; the recommended starting dose is 10 to 15 mcg/kg/day. The immediate goals of treatment are to rapidly raise the serum T4 above 130 nmol/L (10 ug/dL and normalize serum TSH levels. Frequent laboratory monitoring in infancy is essential to ensure optimal neurocognitive outcome. Serum TSH and free T4 should be measured every 1-2 months in the first 6 months of life and every 3-4 months thereafter

  2. Adrenal myelolipoma associated with Cushing's disease.

    Science.gov (United States)

    Bennett, B D; McKenna, T J; Hough, A J; Dean, R; Page, D L

    1980-03-01

    An 18-year-old man with a history of Cushing's disease was treated with a total right and a near total left adrenalectomy in 1956. Pathologic examination of the operative specimen revealed bilateral adrenal hyperplasia. After 13 years, recurrence of symptoms of cortisol excess necessitated cobalt irradiation to the pituitary, which was without clinical effect. After an initial response to the adrenolytic agent, o,p'-DDD, partial relapse occurred. At this time, the recognition of an abdominal mass prompted abdominal exploration revealing a huge adrenal myelolipoma containing adrenal cortical cells distributed diffusely throughout the tumor. Symptoms of adrenal insufficiency developed, and adrenal steroid secretion did not respond to exogenous adrenocorticotropic hormone postoperatively. The case illustrates that adrenal myelolipomas may become very large with continued stimulation by adrenocorticotropic hormone, may contain significant amounts of adrenal cortical tissue, and may be associated with clinical hypercortisolism. PMID:7361728

  3. Adrenal adrenoceptors in heart failure

    Directory of Open Access Journals (Sweden)

    Claudio ede Lucia

    2014-07-01

    Full Text Available Heart failure (HF is a chronic clinical syndrome characterized by the reduction in left ventricular (LV function and it represents one of the most important causes of morbidity and mortality worldwide. Despite considerable advances in pharmacological treatment, HF represents a severe clinical and social burden. Sympathetic outflow, characterized by increased circulating catecholamines (CAs biosynthesis and secretion, is peculiar in HF and sympatholytic treatments (as β-blockers are presently being investigated for the treatment of this disease. Adrenal gland secretes Epinephrine (80% and Norepinephrine (20% in response to acetylcholine stimulation of nicotinic cholinergic receptors on the chromaffin cell membranes. This process is regulated by adrenergic receptors (ARs: α2ARs inhibit CA release through coupling to inhibitory Gi-proteins, and βARs (mainly β2ARs stimulate CA release through coupling to stimulatory Gs-proteins. All ARs are G-protein-coupled receptors (GPCRs and GPCR kinases (GRKs regulate their signaling and function. Adrenal GRK2-mediated α2AR desensitization and downregulation are increased in HF and seem to be a fundamental regulator of CA secretion from the adrenal gland. Consequently, restoration of adrenal a2AR signaling through the inhibition of GRK2 is a fascinating sympatholytic therapeutic strategy for chronic HF. This strategy could have several significant advantages over existing HF pharmacotherapies (antiadrenergic, such as bAR-blockers minimizing side-effects on extra-cardiac tissues and reducing the chronic activation of the renin–angiotensin–aldosterone and endothelin systems.The role of adrenal ARs in regulation of sympathetic hyperactivity opens interesting perspectives in understanding pathophysiology of HF and identifying new potential therapeutic targets.

  4. Genetics Home Reference: congenital hypothyroidism

    Science.gov (United States)

    ... Help Me Understand Genetics Home Health Conditions congenital hypothyroidism congenital hypothyroidism Enable Javascript to view the expand/collapse ... Genetic Testing Registry: Congenital hypothyroidism Genetic Testing Registry: Hypothyroidism, ... Encyclopedia: Congenital Hypothyroidism These resources ...

  5. Congenital pachygyria

    Directory of Open Access Journals (Sweden)

    Jing-xia HU

    2016-02-01

    Full Text Available Objective To investigate the imaging and clinicopathological features of pachygyria limited in the right temporo-parieto-occipital lobe and the key points of its diagnosis and treatment, in order to improve the recognition of this disease.  Methods and Results A 2-year-old boy was admitted to hospital because of paroxysmal loss of consciousness and convulsion for 18 months with progressive aggravation. MRI showed malformations of cortical development in the right temporo-parieto-occipital lobe. Epileptic foci resection on the right temporo-parieto-occipital lobe was made. Histological examination after operation showed uneven thickening of gray matter, shrinking of white matter and disappearing cortical stratification, while a lot of dysmorphic neurons, balloon cells and scattered balloon cells in white matter appeared. Immunohistochemical staining revealed that dysmorphic neurons were positive for non-phosphorylated neurofilament protein SMI-32, microtubule-associated protein-2 (MAP-2 and vimentin (Vim or neurofilament protein (NF. Both dysmorphic neurons and balloon cells expressed phosphorylated ribosomal S6 protein (RPS6, while the former was stronger than the latter. Balloon cells were not positive for MAP-2 or Vim. No disturbance of consciousness or limb twitches occurred in this patient during one-year follow-up.  Conclusions Congenital pachygyria was cortical dysplasia caused by the early proliferation and migration disorder of brain, and should be distinguished with focal cortical dysplasia (FCD type Ⅱ b and tuberous sclerosis complex (TSC. Clinical history, imaging and histological features should be included in the diagnosis. DOI: 10.3969/j.issn.1672-6731.2016.02.005

  6. Congenital Heart Information Network

    Science.gov (United States)

    ... heart defects. Important Notice The Congenital Heart Information Network website is temporarily out of service. Please join ... and Uwe Baemayr for The Congenital Heart Information Network Exempt organization under Section 501(c)3. Copyright © ...

  7. Adult congenital heart disease

    OpenAIRE

    Morphet, John AM

    2006-01-01

    One million people over the age of 20 suffer from congenital heart disease in the United States. These adult patients can slip through the cracks of our medical system; many are too old to be cared for in most pediatric institutions by pediatric cardiologists and, unfortunately, most adult cardiologists are not trained in congenital heart disease. Therefore, it is important to identify the common lesions in adult congenital heart disease and how they should be managed. Acyanotic congenital he...

  8. Congenital sternoclavicular dermoid sinus.

    Science.gov (United States)

    Willaert, Annelore; Bruninx, Liesje; Hens, Greet; Hauben, Esther; Devriendt, Koen; Vander Poorten, Vincent

    2016-02-01

    We report a case series of 8 patients, presenting with a congenital sinus in the region of the sternoclavicular joint. This rare malformation has only been reported in the Japanese dermatological literature under the name of "congenital dermoid fistula of the anterior chest region". It has to be distinguished from other congenital anomalies and requires complete excision. PMID:26810293

  9. Functional paraganglioma extra-adrenal

    International Nuclear Information System (INIS)

    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)

  10. 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.

  11. Classical integrability

    Science.gov (United States)

    Torrielli, Alessandro

    2016-08-01

    We review some essential aspects of classically integrable systems. The detailed outline of the sections consists of: 1. Introduction and motivation, with historical remarks; 2. Liouville theorem and action-angle variables, with examples (harmonic oscillator, Kepler problem); 3. Algebraic tools: Lax pairs, monodromy and transfer matrices, classical r-matrices and exchange relations, non-ultralocal Poisson brackets, with examples (non-linear Schrödinger model, principal chiral field); 4. Features of classical r-matrices: Belavin–Drinfeld theorems, analyticity properties, and lift of the classical structures to quantum groups; 5. Classical inverse scattering method to solve integrable differential equations: soliton solutions, spectral properties and the Gel’fand–Levitan–Marchenko equation, with examples (KdV equation, Sine-Gordon model). Prepared for the Durham Young Researchers Integrability School, organised by the GATIS network. This is part of a collection of lecture notes.

  12. Imaging spectrum of adrenal pseudocysts on CT

    International Nuclear Information System (INIS)

    The aim of this study was to analyze the imaging spectrum of adrenal pseudocysts on CT. The CT images of seven patients with pathologic diagnosis of adrenal pseudocysts in our hospital were reviewed for the size, cystic part, solid part, septum, calcification, acute hematoma, and layering appearance. The presence or absence of contrast enhancement of solid parts in each lesion was also assessed if possible. Of the seven adrenal pseudocysts, there were three pure cystic, three mixed cystic and solid, and one solid lesions on CT. Two of the three cystic pseudocysts were septated with calcifications. Layering appearance was present in two mixed lesions. There were central calcifications and acute hematomas in one solid mass. In our study, there was no contrast enhancement of the solid parts of adrenal pseudocysts. The CT appearances of adrenal pseudocysts may range from cystic, mixed, to solid masses. The presence of solid parts of adrenal pseudocysts on CT mimics those of adrenal neoplasms; however, no contrast enhancement of the solid part in the lesion may help in the diagnosis of adrenal pseudocysts and their differentiation from adrenal neoplasms. (orig.)

  13. Adrenal Myelolipoma- A Rare Case Report

    Directory of Open Access Journals (Sweden)

    Vijayalaxmi V. Suranagi

    2009-05-01

    Full Text Available Adrenal myelolipoma (AML is a rare benign tumour composed of mature adipose tissue and hematopoietic tissue. Very few cases have been reported. Most of these patients are asymptomatic. We present a rare case of Adrenal Myelolipoma where the patient presented with hypertension and a clinical suspicion of Pheochromocytoma, which turned out to be an Adrenal myelolipoma. Adrenal myelolipoma is a rare entity, not encountered frequently and can occur as an incidental finding. Awareness regarding this entity is very much essential to exclude surgical exploration or extensive surgery.

  14. Classical Tunneling

    CERN Document Server

    Cohn, A G; Rabinowitz, Mario

    2003-01-01

    A classical representation of an extended body over barriers of height greater than the energy of the incident body is shown to have many features in common with quantum tunneling as the center-of-mass literally goes through the barrier. It is even classically possible to penetrate any finite barrier with a body of arbitrarily low energy if the body is sufficiently long. A distribution of body lengths around the de Broglie wavelength leads to reasonable agreement with the quantum transmission coefficient.

  15. Classical Tunneling

    OpenAIRE

    Cohn, Arthur; Rabinowitz, Mario

    2003-01-01

    A classical representation of an extended body over barriers of height greater than the energy of the incident body is shown to have many features in common with quantum tunneling as the center-of-mass literally goes through the barrier. It is even classically possible to penetrate any finite barrier with a body of arbitrarily low energy if the body is sufficiently long. A distribution of body lengths around the de Broglie wavelength leads to reasonable agreement with the quantum transmission...

  16. Classical Motion

    OpenAIRE

    Mould, Richard A

    2003-01-01

    Preciously given rules allow conscious systems to be included in quantum mechanical systems. There rules are derived from the empirical experience of an observer who witnesses a quantum mechanical interaction leading to the capture of a single particle. In the present paper it is shown that purely classical changes experienced by an observer are consistent with these rules. Three different interactions are considered, two of which combine classical and quantum mechanical changes. The previous...

  17. [Congenital Esophageal Atresia].

    Science.gov (United States)

    Suzuki, Makoto; Kuwano, Hiroyuki

    2015-07-01

    In this report, we describe the esophageal atresia in terms of current surgical management on the basis of our experience and literatures. Traditionally, infants with esophageal atresia have presented shortly after birth because of an inability to pass an orogastric tube, respiratory distress, or an inability to tolerate feeding. And also, an isolated trachea-esophageal fistula (TEF) usually cases coughing, recurrent pneumonia, or choking during feedings. To ignore these symptoms is to risk a delayed diagnosis. The condition may be associated with other major congenital anomalies such as those seen in the vertebral, anal, cardiac, tracheo-esophageal, renal/radial (VACTER) association, or it may be an isolated defect. Therapeutic strategies for esophageal atresia are a prevention of pulmonary complication by TEF closing and an early establishment of enteral alimentation. We promptly repair healthy infants without performing a gastrostomy and delay repair in infants with high-risk factors such as associated severe cardiac anomaly and respiratory insufficiency. Esophageal atresia has been classically approached through a thoracotomy. The disadvantages of such a thoracotomy have been recognized for a long time, for example winged scapula, elevation of fixation of shoulder, asymmetry of the chest wall, rib fusion, scoliosis, and breast and pectoral muscle maldevelopment. To avoid such disadvantages, thoracoscopic repair was recently reported. PMID:26197921

  18. Scintigraphy of incidentally discovered bilateral adrenal masses

    International Nuclear Information System (INIS)

    The purpose of this study was to determine the patterns of iodine-131 6β-iodomethylnorcholesterol (NP-59) imaging and the correlation with CT-guided adrenal biopsy and follow-up in patients with bilateral adrenal masses. To this end we investigated a consecutive sample of 29 euadrenal patients with bilateral adrenal masses discovered on CT for reasons other than suspected adrenal disease. Adrenal scintigraphy was performed using 1 mCi of NP-59 injected i.v., with gamma camera imaging 5-7 d later. In 13 of the 29 patients bilateral adrenal masses were the result of metastatic involvement from lung carcinoma (5), lymphoma (3), adrenocarcinoma of the colon (3), squamous cell carcinoma of the larynx (1), and anaplastic carcinoma of unknown primary (1). Among these cases the NP-59 scan demonstrated either bilaterally absent tracer accumulation (8, all with bilateral metastases) or marked asymmetry of adrenocortical NP-59 uptake (5). Biopsy of the adrenal demonstrating the least NP-59 uptake documented malignant involvement of that gland in five of five patients. In two patients an adenoma was found simultaneously in one adrenal with a contralateral malignant adrenal mass. In each of these cases, the adenoma demonstrated the greatest NP-59 uptake. In 16 patients diagnosis of adenoma was made on the basis of CT-guided adrenal biopsy of the gland with the greatest NP-59 uptake of the pair (n=4), or adrenalectomy (n=2), or absence of change in the size of the adrenal mass on follow-up CT scanning performed 6 months to 3 years later (n=10). (orig./MG)

  19. Genetics Home Reference: primary macronodular adrenal hyperplasia

    Science.gov (United States)

    ... hormone-producing glands located on top of each kidney. These nodules, which usually are found in both adrenal glands (bilateral) and vary in size, cause adrenal gland enlargement (hyperplasia) and result in the production of higher-than-normal levels of the hormone cortisol. Cortisol is an ...

  20. Magnetic resonance imaging of the adrenal gland

    International Nuclear Information System (INIS)

    Adrenal imaging was performed using magnetic resonance (MR) was in 100 patients who had no clinical or biochemical evidence of adrenal abnormality and in 19 patients with 24 adrenal lesions (adenoma in 5, hyperplasia in 2, metastasis in 5 (lung cancer in 1, hepatoma in 4), adrenal cancer in 1, pheochromocytoma in 3, neuroblastoma in 3). Normal adrenal glands showed intermediate intensity between muscle and liver, and were detected in over 90% of cases on T1-weighted images (T1-weighted SE, inversion recovery). Adenomas and hyperplasias had the same intensity as normal glands. Medullary masses showed extreme hyperintensity on T2-weighted images and could be differentiated from cortical masses. Neuroblastomas were detected as hyperintense tumors with intratumoral hemorrhage and necrosis on T2-weighted images. Metastatic adrenal tumors from lung cancer were hyperintense on T2-weighted images, while metastasis from hepatoma showed low intensity on the same pulse sequence. In diagnosing adrenal metastasis, we must compare and contrast the tumor intensity and structure with those of the primary lesions. MR is considered a useful modality in characterizing adrenal tissue. (author)

  1. Computed tomographic features of the adrenal glands

    International Nuclear Information System (INIS)

    Conventional radiography of the adrenal glands are too often unsatisfactory. It is well known that the whole body computed tomography is very useful in identifying retroperitoneal pathology. The authors intended to present normal data of adrenal glands for preparation of basis for interpretation of abnormalities. We reviewed CT scans of 30 cases without evidence of adrenal disease and 4 cases of adrenal lesions. The results are as follows: 1. There were 16 male and 14 female patients, and their ages ranged from 10 to 70 years. 2. On CT, both glands were shown in 23 (76%), the right in 24 (80%) and the left in 26 (86%). 3. Most of the right adrenal gland was linear or comet in shape in the apex, and partly 'inverted V' in the base. 4. The right adrenal had length of 2.4 ± 0.8 cm, width of 2.6 ± 0.8 cm and thickness of 0.6 ± 0.1 cm. The left adrenal, 2.5 ± 0.7 cm, 2.4 ± 0.5 cm and 0.7 ± 0.1 cm respectively. 5. In 2 cases of Cushing's syndrome, CT demonstrated grossly enlarged, smooth-contoured adrenal glands with convex borders. 6. In the case of cortical adenoma, CT showed the mass of homogeneous low density as a result to high total fat content.7. In pheochromocytoma, CT showed relatively large mass with low density.

  2. Bilateral spontaneous adrenal haemorrhage complicating acute pancreatitis

    International Nuclear Information System (INIS)

    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

  3. Laparoscopic extirpation of giant adrenal ganglioneuroma

    Directory of Open Access Journals (Sweden)

    George P Abraham

    2014-01-01

    Full Text Available Laparoscopic adrenalectomy is the standard of care for management of adrenal neoplasms. However, large sized adrenal lesions are considered as relative contraindication for laparoscopic extirpation. We report laparoscopic excision of giant ganglioneuroma of adrenal gland in a 33-year-old female patient. Patient was presented with left loin pain of 2 months duration. Computed tomography (CT scan was suggestive of non-enhancing left suprarenal mass measuring 17 × 10 cm. Preoperative endocrine evaluation ruled out functional adrenal tumor. Patient underwent transperitoneal excision of suprarenal mass. The lesion could be completely extirpated laparoscopically. Duration of surgery was 250 minutes. Estimated blood loss was 230 milliliters. Specimen was extracted through pfannenstiel incision. No significant intraoperative or postoperative happenings were recorded. Microscopic features were suggestive of ganglioneuroma of adrenal gland.

  4. Ultrasonographic diagnosis of the adrenal lesion

    International Nuclear Information System (INIS)

    To evaluate the accuracy and efficacy of ultrasonography for diagnosis of the adrenal mass, sonographic results of the 45 patients who underwent computed tomography and ultrasonography were analysed. Sixteen patients of them were verified at operation and the remainder was finally diagnosed by clinical and endocrinological examination. Overall diagnostic accuracy, sensitivity, specificity, positive predictive value and negative predictive value of ultrasonography in the adrenal disease are 84%, 81%, 100%, 100% and 53%, respectively. Of the seven negative diagnosis, six cases were small mass(under 2cm)and five cases were located in the left adrenal gland. Ultrasonography is efficient as a primary diagnostic method in detecting the adrenal mass. but small mass less than 2 cm, especially in the left adrenal gland is difficult to diagnose by ultrasonography

  5. Primary adrenal lymphoma with paraneoplastic syndrome

    Directory of Open Access Journals (Sweden)

    Radhika Dasararaju

    2013-01-01

    Full Text Available Context: The adrenal gland is a common site for neoplastic diseases and primary adrenal lymphoma (PAL is a rare tumor with around 120 cases reported so far. Case Report: We present a rare case of 76-year-old male who presented with headache, confusion, inappropriate body movements and abdominal pain. Adrenal biopsy revealed PAL and he has had an excellent neurologic outcome to date with chemotherapy and involved field radiation. Conclusion: The majority of cases of PAL are B cell lymphomas with diffuse large cell in 70% of cases. Clinical symptoms are variable and patients may present with abdominal pain, fever, anorexia, weight loss, fatigue or symptoms of adrenal insufficiency. Therapeutic modalities for PAL include surgery, chemotherapy and radiotherapy and corticosteroid replacement. With this case report, we hope to raise awareness about this rare disease and to include lymphoma in the differential of adrenal masses.

  6. Genetics of congenital hypothyroidism

    OpenAIRE

    Park, S.; Chatterjee, V

    2005-01-01

    Congenital hypothyroidism is the most common neonatal metabolic disorder and results in severe neurodevelopmental impairment and infertility if untreated. Congenital hypothyroidism is usually sporadic but up to 2% of thyroid dysgenesis is familial, and congenital hypothyroidism caused by organification defects is often recessively inherited. The candidate genes associated with this genetically heterogeneous disorder form two main groups: those causing thyroid gland dysgenesis and those causin...

  7. Classical Motion

    CERN Document Server

    Mould, R A

    2003-01-01

    Preciously given rules allow conscious systems to be included in quantum mechanical systems. There rules are derived from the empirical experience of an observer who witnesses a quantum mechanical interaction leading to the capture of a single particle. In the present paper it is shown that purely classical changes experienced by an observer are consistent with these rules. Three different interactions are considered, two of which combine classical and quantum mechanical changes. The previously given rules support all of these cases. Key Words: brain states, conscious observer, detector, measurement, probability current, state reduction, von Neumann, wave collapse.

  8. Impact of Congenital Heart Defects

    Science.gov (United States)

    ... High Blood Pressure Tools & Resources Stroke More The Impact of Congenital Heart Defects Updated:Oct 21,2015 ... is an important part of successful coping. The Impact of Congenital Heart Defects • Home • About Congenital Heart ...

  9. Classical entanglement

    OpenAIRE

    Danforth, Douglas G.

    2001-01-01

    Classical systems can be entangled. Entanglement is defined by coincidence correlations. Quantum entanglement experiments can be mimicked by a mechanical system with a single conserved variable and 77.8% conditional efficiency. Experiments are replicated for four particle entanglement swapping and GHZ entanglement.

  10. Classical Mechanics

    OpenAIRE

    Gallavotti, Giovanni

    1999-01-01

    This is the English version of a friendly graduate course on Classical Mechanics, containing about 80% of the material I covered during the January-June 1999 semester at IFUG in the Mexican city of Leon. For the Spanish version, see physics/9906066

  11. Unilateral adrenal tumor, erectile dysfunction and infertility in a patient with 21-hydroxylase deficiency: effects of glucocorticoid treatment and surgery.

    Science.gov (United States)

    Scaroni, C; Favia, G; Lumachi, F; Opocher, G; Bonanni, G; Mantero, F; Armanini, D

    2003-02-01

    In untreated congenital adrenal hyperplasia due to 21-hydroxylase deficiency (21OHDS) the presence of adrenal and testicular tumors had been described; however little is known about the effect of the enzymatic defect on fertility in males. We studied a male adult patient affected by 21OHDS for infertility, after a long period of discontinuation of glucocorticoid therapy and then during resumption of treatment and 8 months after monoadrenalectomy. The initial spermatic count revealed azoospermia and testicular needle aspiration showed a cytological picture consistent with prepuberty. The morphofunctional study revealed a right adrenal mass with reduced uptake at radioscan. Treatment was resumed with onset of impotency, which improved after reduction of the dose of glucocorticoids. The patient was monoadrenalectomised and his spermatic count increased. The patient shows that corticosteroid therapy in 21OHDS should be continued lifelong to avoid adrenal hyperplasia with possible areas of autonomy and to allow regular fertility. Impotence during treatment is probably due to a decrease of excessive adrenal androgens while testicular androgen production is still suppressed. PMID:12605349

  12. Bronchogenic cyst mimicking an adrenal mass in the retroperitoneal region: Report of a rare case

    Directory of Open Access Journals (Sweden)

    Gulay Bulut

    2015-01-01

    Full Text Available We report the surgical excision of a retroperitoneal bronchogenic cyst that presented as a nonfunctioning left adrenal mass in a 25-year-old woman with continuous pain in the left flank. Preoperative biochemical testing confirmed that the mass was nonfunctional. Bronchogenic cysts are mostly benign congenital abnormalities that originate from the remnants of the primitive foregut and typically occur in the lung. Subdiaphragmatic and especially, retroperitoneal locations are rare. Despite the rarity of this pathologic entity, bronchogenic cysts should be considered in the differential diagnosis of retroperitoneal cystic lesions. Diagnosis must be definitively confirmed by histology.

  13. Diagnosis of adrenal tumors with radionuclide imaging

    International Nuclear Information System (INIS)

    The development of radiolabeled cholesterols in 1969 as precursors of adrenocortical steroid production allowed the first noninvasive imaging of the adrenal cortices. FDA-NDA approval in 1984 should allow routine use of these agents in most hospitals. NP-59 is most commonly used in the diagnosis and management of Cushing syndrome; the second most common use is in the diagnosis of primary aldosteronism. It is also helpful in the differential diagnosis of adrenal and ovarian hyperandrogenism and hirsutism, and is the only noninvasive method of detecting unilateral adrenocortical hypofunction. The newest and most popular use is in the differential diagnosis of asymptomatic masses in the region of the adrenal gland discovered incidentally with CT scan (incidentalomas). In this situation, the NP-59 scan can define whether the tumor is in the adrenal gland and if it is functional or nonfunctional. The authors believe that, in the future, radiolabeled enzyme inhibitors might offer better diagnostic imaging of the adrenal cortex, although these agents will probably not be available for routine use for some time. The development of a radioiodinated guanethidine analog, 131I-MIBG, has allowed differentiation of normal adrenal medullary function from bilateral adrenal medullary hyperplasia before the development of hypertension or tachycardia, diagnostic increases in plasma or urinary catecholamines, or abnormal CT scans. The search for a pheochromocytoma should begin with 131I-MIBG scintigraphy. While over 90% of primary pheochromocytomas occur in the abdomen, neither a survey of the abdomen nor the finding of a single tumor should conclude the search

  14. Adrenal scanning with 131I-19-cholesterol

    International Nuclear Information System (INIS)

    The purpose of this paper is to describe our clinical experience of adrenal scanning with 131I-19-cholesterol and discuss its clinical usefulness. Adrenal scanning was performed for 21 patients with hypertension. One millicurie of 131I-19-cholesterol was injected intravenously and adrenal scannings were taken 6 to 11 days after injection with a rectilinear scanner or a gamma camera. No patient had an untoward reaction to the radiopharmaceutical. Confirmed diagnosis was obtained in 7 of 21 patients, i.e., 3 cases of primary aldosteronism, 1 idiopathic aldosteronism, 1 Cushing's syndrome and 2 cases of the essential hypertension. Among all of the primary aldosteronism and Cushing's syndrome, adrenal scanning gave clear evidence of concentration of radioactivity at the site of tumor. In the idiopathic aldosteronism of our study, uptake of radioactivity was brightly visible on the right, while uptake by the left gland was inhibited, so this case was diagnosed incorrectly as primary aldosteronism. The kidney scan with 203Hg-chlormerodrin obtained without moving the patient after an adrenal scan was very useful for getting information of anatomical site of the activity. The effective half-life was calculated as 1.83 days by means of sequential profile whole-body scannings, and the total-body absorbed radiation dose was estimated as 0.65 rad/mCi by using MIRD pamphlets. Our conclusion is that the adrenal scanning with 131I-19-cholesterol is very useful for localization of the functional adrenal cortical tumor. (author)

  15. Therapy of adrenal insufficiency: an update.

    Science.gov (United States)

    Falorni, Alberto; Minarelli, Viviana; Morelli, Silvia

    2013-06-01

    Adrenal insufficiency may be caused by the destruction or altered function of the adrenal gland with a primary deficit in cortisol secretion (primary adrenal insufficiency) or by hypothalamic-pituitary pathologies determining a deficit of ACTH (secondary adrenal insufficiency). The clinical picture is determined by the glucocorticoid deficit, which may in some conditions be accompanied by a deficit of mineralcorticoids and adrenal androgens. The substitutive treatment is aimed at reducing the signs and symptoms of the disease as well as at preventing the development of an addisonian crisis, a clinical emergency characterized by hypovolemic shock. The oral substitutive treatment should attempt at mimicking the normal circadian profile of cortisol secretion, by using the lower possible doses able to guarantee an adequate quality of life to patients. The currently available hydrocortisone or cortisone acetate preparations do not allow an accurate reproduction of the physiological secretion pattern of cortisol. A novel dual-release formulation of hydrocortisone, recently approved by EMEA, represents an advancement in the optimization of the clinical management of patients with adrenal insufficiency. Future clinical trials of immunomodulation or immunoprevention will test the possibility to delay (or prevent) the autoimmune destruction of the adrenal gland in autoimmune Addison's disease. PMID:23179775

  16. Magnetic resonance imaging of the adrenal lesions

    International Nuclear Information System (INIS)

    Magnetic resonance imaging (MRI) was performed in 18 patients with adrenal masses using a superconducting magnet operating at 1.5 Tesla. Seven pheochromocytomas, five aldosterone-producing adenomas, two hydrocortisone-producing adenomas, two adrenal metastases, one adrenal carcinoma and one adrenal myelolipoma were examined by this method. Spin-echo pulse sequences were obtained at the repetition time (TR) 0.1 ∼ 1.6 sec and the echo time (TE) 14 ∼ 75 msec. T1-weighted images of phechromocytomas were similar in signal intensity to the kidney, while T2-weighted images revealed much higher intensity than those of the liver and kidney. The signal intensity on T1-and T2-weighted images of adrenal adenomas were similar, irrespective of endocrine characteristics, to that of the liver and kidney. T1-weighted images which detect small masses more than 1 cm in diameter offer anatomic resolution similar to computed tomography (CT) and T2-weighted images give information about internal characteristic of adrenal masses. It is expected that MRI is more useful in diagnosis of adrenal masses than CT. (author)

  17. Normal dexamethasone-suppression adrenal scintiscan

    International Nuclear Information System (INIS)

    To establish the parameters of adrenal imaging under dexamethasone suppression (DS), 18 normotensive, normal male volunteers underwent dexamethasone-suppression adrenal scintiscanning. Five control groups were established and given dexamethasone, either 8 mg for 2 days or 4 mg for 7 days before 6β-[1311]iodomethyl-norcholesterol (NP-59) administration. NP-59 was given in doses of 2, 1, or 0.5 mCi. Early visualization (3-5 days) of the adrenals was noted in the groups on the 8 mg DS regimen with either 1 or 2 mCi of NP-59. Late visualization (5-7 days) was noted in the groups that received 4 mg DS and either 2, 1, or 0.5 mCi of MP-59, respectively. The normal adrenal will demonstrate uptake of NP-59 under DS, and the duration of DS before imaging is the critical factor as to when discernible adrenal visualization will occur. The documentation of the normal suppression interval on these DS regimens provides a basis for the correct diagnostic interpretation of adrenal hyperfunction as seen on the dexamethasone-suppression NP-59 adrenal scan

  18. Congenital Hepatic Fibrosis

    Directory of Open Access Journals (Sweden)

    MH Antikchi

    2010-09-01

    Full Text Available Congenital hepatic fibrosis (CHF is a rare disease that primarily involves hepatobiliary and renal systems. It is characterized by hepatic fibrosis, portal hypertension and renal cystic disease. We present a 22 years old man with fever, abdominal pain, icterus and hematemesis. On complete work up of the patient and liver with kidney biopsy, the diagnosis was congenital hepatic fibrosis.

  19. Congenital symmastia revisited

    DEFF Research Database (Denmark)

    Sillesen, Nanna H; Hölmich, Lisbeth R; Siersen, Hans Erik;

    2012-01-01

    Symmastia is defined as medial confluence of the breast. The term 'symmastia' is modified from Greek (syn meaning 'together', and mastos meaning 'breast') and was first presented by Spence et al. in 1983. Two forms of symmastia exist: an iatrogenic and a congenital version. Congenital symmastia i...

  20. Adrenal pathology in childhood: a spectrum of disease

    International Nuclear Information System (INIS)

    Adrenal lesions in children may present with an asymptomatic adrenal mass lesion, an endocrinopathy, a hypertensive or metabolic crisis or a paraneoplastic syndrome. Some of the underlying disease processes remain localised within the adrenal gland or may develop into disseminated disease. The role of the radiologist is to confirm the adrenal location of a lesion and to document any other foci of disease. Ultrasound, CT, MR imaging and metaiodobenzylguanidine scintigraphy are the most commonly utilised imaging modalities for examining the adrenal glands and their pathologies in children. This paper reviews the spectrum of adrenal disease in childhood and presents the information as a series of radiological appearances: anomalies of adrenal shape, location, number and size, cystic adrenal masses, solid adrenal mass lesions, and adrenal calcifications are all examined. The radiological findings must always be interpreted in conjunction with the patient's age, the clinical history, the findings on physical examination and the available biochemical data. (orig.)

  1. NROB1基因新突变所致先天性肾上腺发育不良患儿以中枢性性早熟发病%A patient with X-linked adrenal hypoplasia congenital and central precocious puberty caused by a novel NROB1 gene mutation

    Institute of Scientific and Technical Information of China (English)

    杜敏联; 李燕虹; 张军; 陈红珊

    2015-01-01

    Objective To explore the possible role of NROB1 gene played in regulating hypothalamic-pituitary-gonad axis(HPGA) by analyzing the clinical and molecular characteristics in a case of central precocious puberty(CPP) with NROB1 gene mutation. Methods Clinical characteristics and direct sequencing of NROB1 gene in the patient were analyzed. Results A 11-month-old boy with manifested premature puberty, enlargement of penis/testes, and penile erection, but without manifestations of adrenal insufficiency was reportd. Clinical diagnosis was adrenal hypoplasia congenita( AHC) with CPP. The NR0B1 gene sequencing revealed a novel mutation in exon 1 (913C> T). Conclusion NR0B1 gene mutation may lead to the development of CPP in the patient with AHC. However, the mechanism remains unclear and thus deserves further exploration.%目的:分析1例以中枢性性早熟(CPP)发病的 NROB1基因新突变患儿的临床和分子改变,探讨 NROB1对下丘脑-垂体-性腺轴(HPGA)调控的意义。方法总结病例的临床特征和基因直接测序。结果11月龄男性患儿,4月龄起阴毛萌生、阴茎/睾丸渐进增大伴勃起;生后无肾上腺皮质功能减退表现。诊断为先天性肾上腺发育不良(AHC)并 CPP。测序显示 NROB1基因外显子1(913C>T)突变。结论NROB1基因突变可能使得 AHC 患儿发生 CPP,确切机制需进一步研究。

  2. Update on imaging diagnosis of adrenal tumors

    International Nuclear Information System (INIS)

    Imaging diagnosis of adrenal tumors is increasingly frequent. Characterization and differentiation of benign adenomas and malignant injures is very important, mainly in the patient with malignant or functioning disease. Computed tomography, magnetic resonance imaging and positron emission tomography/computed tomography allowed greater precision in characterizing and differentiating the adrenal masses in a non-invasive way. This review explained the physiological principles supporting these techniques, its advantages and restrictions. The main characteristics of the most frequent adrenal tumor images were described, in addition to submitting an algorithm for the use of these diagnostic means

  3. Imaging procedures in adrenal pathology Procedimentos de imagem na patologia adrenal

    OpenAIRE

    Goldman, Suzan M.; Rafael Darahem Coelho; Edison de O. Freire Filho; Nitamar Abdala; Denis Szejnfeld; Juliano Faria; Paola L.P. Judice; Viviane Vieira Francisco; Philip J. Kenney; Jacob Szejnfeld

    2004-01-01

    Imaging plays a vital role in the evaluation of adrenal pathology. The most widely used modalities are computed tomography and magnetic resonance imaging. Alone or in conjunction with appropriate clinical and biochemical data, imaging can provide specific diagnoses that preclude the need for tissue sampling. This article reviews imaging features of normal and diseased adrenals, from both benign and malignant causes.Procedimentos de imagem têm um papel vital na avaliação da patologia adrenal. ...

  4. Differential diagnosis of the adrenal masses. CT and MR

    International Nuclear Information System (INIS)

    The most important issue in the radiological diagnosis of adrenal lesions is the diagnosis of adrenal adenomas, which is the most common adrenal tumor. In this review article, the state-of-the-art CT/MR techniques for diagnosing adrenal adenomas are discussed, along with their technical problems and limitations. Also presented are an issue of preclinical Cushing syndrome and other rare tumorous conditions that should be differentiated from adrenal adenomas. (author)

  5. Persistence of histoplasma in adrenals 7 years after antifungal therapy

    Directory of Open Access Journals (Sweden)

    Deepak Kothari

    2013-01-01

    Full Text Available Adrenal histoplasmosis is an uncommon cause for adrenal insufficiency. The duration of treatment for adrenal histoplasmosis is not clear. Existing treatment regimens advocate antifungals given for periods ranging from 6 months to 2 years. We report here a rare case who showed persistence of histoplasma in adrenal biopsy 7 years after being initially treated with itraconazole for 9 months. This calls for a prolonged therapy with regular review of adrenal morphology and histology in these patients.

  6. Merosin-Deficient Congenital Muscular Dystrophy (MDCMD): A Case Report with MRI, MRS and DTI Findings

    OpenAIRE

    Ip, Janice JK; Hui, Peter KT; Chau, MT; Lam, Wendy WM

    2012-01-01

    Congenital muscular dystrophy (CMD) comprises a heterogeneous group of disorders present at birth with muscle weakness, hypotonia and contractures. Congenital muscular dystrophy (CMD) comprises a heterogeneous group of disorders with muscle weakness, hypotonia and contractures present at birth. A particular subset of classic CMD is characterized by a complete absence of merosin. Merosin-deficient congenital muscular dystrophy (MDCMD) is a rare genetic disease involving the central and periphe...

  7. Evaluation of primary adrenal insufficiency secondary to tuberculous adrenalitis with computed tomography and magnetic resonance imaging:Current status

    Institute of Scientific and Technical Information of China (English)

    Yu-Cheng; Huang; Yu-Lian; Tang; Xiao-Ming; Zhang; Nan-Lin; Zeng; Rui; Li; Tian-Wu; Chen

    2015-01-01

    As one kind of infectious diseases of adrenal gland, adrenal tuberculosis can result in a life-threatening disorder which is called primary adrenal insufficiency(PAI) due to the destruction of adrenal cortex. Computed tomography(CT) and magnetic resonance imaging(MRI) play significant roles in the diagnosis of this etiology of PAI based on the CT and MRI appearances of the adrenal lesions. In this mini-review, we intend to study the CT and MRI features of adrenal tuberculosis, which could be helpful to both endocrinologist and radiologist to establish a definitive diagnosis for adrenal tuberculosis resulting in PAI.

  8. Giant adrenal incidentaloma in young patient

    International Nuclear Information System (INIS)

    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)

  9. Isolated hydatid cyst of the adrenal gland

    OpenAIRE

    Grubor Nikica; Čolović Radoje; Radak Vladimir; Čolović Nataša

    2006-01-01

    Introduction: Hydatid cyst of the adrenal gland is extremely rare even in generalized hydatid disease, with less than 20 cases reported in world literature including those found in autopsy. Case outline: The authors present the second case of the adrenal gland hydatid cyst described in Serbian literature, in 52-year old woman. During the investigation for the epigastric pain by ultrasonography and computed tomography, calcified cyst of the sixth segment of the liver, 44Ч39 mm in diameter, was...

  10. Congenital anomalies associated with hypothyroidism.

    OpenAIRE

    Bamforth, J S; Hughes, I; Lazarus, J; John, R.

    1986-01-01

    Seven of the 34 infants identified through the Welsh Hypothyroid Screening Programme have additional congenital abnormalities. Two infants have a previously undescribed syndrome, two have chromosomal abnormalities, two have congenital heart disease, and one has a myelomeningocoele. Congenital hypothyroidism often seems to be associated with other congenital abnormalities.

  11. REGULATION OF MEMORY – FROM THE ADRENAL MEDULLA TO LIVER TO ASTROCYTES TO NEURONS1

    OpenAIRE

    Gold, Paul E.

    2014-01-01

    Epinephrine, released into blood from the adrenal medulla in response to arousing experiences, is a potent enhancer of learning and memory processing. This review examines mechanisms by which epinephrine exerts its effects on these cognitive functions. Because epinephrine is largely blocked from moving from blood to brain, it is likely that the hormone's effects on memory are mediated by peripheral actions. A classic effect of epinephrine is to act at the liver to break down glycogen stores, ...

  12. Idiopathic Adrenal Hematoma Masquerading as Neoplasm

    Directory of Open Access Journals (Sweden)

    Kazuki Sasaki

    2012-04-01

    Full Text Available We report herein a case of idiopathic adrenal hematoma. A 59-year-old Japanese man was referred to our hospital for evaluation of a 7.0 cm mass in the right upper abdominal cavity. The tumor was suspected to originate from either the posterior segment of the liver or the right adrenal gland. His chief complaint was weight loss of 8 kg over the previous 6 months. He had no past medical history and took no medications, including no anticoagulants. Laboratory data were almost normal except for a slight elevation of PIVKA-II. The origin of the tumor was found to be the adrenal gland, as angiography revealed the blood supply to the mass to derive from the right superior and inferior adrenal arteries. A fine needle biopsy of the lesion was unable to confirm the diagnosis. Open right adrenalectomy was performed. The histopathological findings of the surgical specimen revealed a hematoma with normal adrenal tissue. In the absence of any obvious etiology, the diagnosis was idiopathic adrenal hematoma.

  13. Congenital myasthenia gravis.

    Science.gov (United States)

    Nizamani, Noor Bakht; Talpur, Khalid Iqbal; Memon, Mariya Nazish

    2013-07-01

    Congenital myasthenia gravis is caused by genetic mutations affecting neuromuscular transmission, characterized by muscle weakness usually starting in childhood. A two and a half years old male child presented with bilateral ptosis and hoarseness of voice. The symptoms progressed giving the clinical impression of congenital myasthenia gravis. A series of tests were done including Ice Pack Test, acetylcholine receptor antibody test, trial of steroids and finally neostigmine test which confirmed the diagnosis. This case illustrates the challenges in diagnosing congenital myasthenia gravis and highlights the potential benefits of neostigmine test in its diagnosis. PMID:23823963

  14. Dopamine receptor expression and function in human normal adrenal gland and adrenal tumors.

    Science.gov (United States)

    Pivonello, Rosario; Ferone, Diego; de Herder, Wouter W; de Krijger, Ronald R; Waaijers, Marlijn; Mooij, Diana M; van Koetsveld, Peter M; Barreca, Antonina; De Caro, Maria Laura del Basso; Lombardi, Gaetano; Colao, Annamaria; Lamberts, Steven W J; Hofland, Leo J

    2004-09-01

    Dopamine is known to play a role in the modulation of aldosterone and catecholamine secretion from the adrenal gland, where dopamine receptors (DR), in particular the DR type 2 (D(2)), have been found to be expressed. DR expression has also been demonstrated in some types of benign adrenal tumors. The aims of the current study were to evaluate DR expression and D(2) localization in the normal adrenal gland and in different types of benign and malignant adrenal tumors, as well as to evaluate the in vitro effects of the dopamine agonists bromocriptine and cabergoline on hormone secretion in nontumoral adrenal cells. Adrenal tissues from 25 patients, subjected to adrenal surgery for different diseases, were studied. These included three normal adrenals; five adrenal hyperplasias; four aldosterone-secreting, two cortisol-secreting, and two clinically nonfunctioning adrenal adenomas; two aldosterone-secreting, two cortisol-secreting, and two androgen-secreting adrenal carcinomas; and three pheochromocytomas. In all tissues, DR and D(2) isoform (D(2long) and D(2short)) expression was evaluated by RT-PCR. D(2) localization was also evaluated by immunohistochemistry using a specific polyclonal antibody, whereas D(2)-like receptor expression was evaluated by receptor-ligand binding study, using the radiolabeled D(2) analog (125)I-epidepride. The effects of bromocriptine and cabergoline on baseline and ACTH and/or angiotensin II-stimulated aldosterone, cortisol, and androstenedione secretion were evaluated in cell cultures derived from five different adrenal hyperplasia. At RT-PCR, both D(1)-like and D(2)-like receptors were expressed in all normal and hyperplastic adrenals. D(2) and D(4) were expressed in aldosterone- and cortisol-secreting adenomas, cortisol-secreting carcinomas, and clinically nonfunctioning adenomas, whereas no DR was expressed in aldosterone- and androgen-secreting carcinomas. D(2), D(4), and D(5) were expressed in pheochromocytomas. In all D(2

  15. Bilateral primary adrenal non-Hodgkin′s lymphoma without adrenal insufficiency

    Directory of Open Access Journals (Sweden)

    William Greg Simpson

    2015-01-01

    Full Text Available We are presenting a rare case of bilateral adrenal non-Hodgkin′s lymphoma (NHL that presented as a primary malignancy. An 83-year-old man presented with newly discovered bilateral adrenal incidentalomas, fatigue, and 30 pound weight loss. Of the 116 cases of primary adrenal NHL reported, over half have presented bilaterally and occur with adrenal insufficiency. Therefore, the finding of bilateral adrenal masses requires an urgent work-up of the functional status of the adrenal gland as well as a thorough analysis of the imaging characteristics seen on noncontrast computed tomography (CT in order to maximize patient survival. Adrenal function testing was normal. Repeat CT imaging revealed rapidly growing lesions with high attenuations; both masses >10 HU. Histological examination of core biopsies discovered malignant lymphoma with no known past history of lymphoma. Our case coincides with the literature, which states that a mass with attenuation >10 HU in the adrenal glands has a high risk of malignancy.

  16. CT of the normal adrenal glands and image diagnosis of the adrenal diseases

    International Nuclear Information System (INIS)

    The appearances of the adrenal glands of 200 normal subjects were evaluated using computed tomography. Comparative assessments were also made of adrenal diseases in 44 patients with using CT, ultrasound, adrenal scintigraphy and angiography. 100%(5/5) of the adenomas in Cushing's Syndrome were detected by CT, scintigraphy and venography; and 60% (3/5) of them, by ultrasonography. All(4/4) adrenal hyperplasias were diagnosed by scintigraphy; and 75% (3/4) of them by C.T. The differential diagnosis of adenomas and hyperplasia in Cushing's Syndrome can be accomplished using scintigraphy and CT. The rates for diagnosing adenomas and hyperplasia in primary aldosteronism were 91%(10/11) using CT and venography; 82%(9/11) using scintigraphy; and 20% (2/10) using ultrasonography. Small masses in the adrenal glands difficult to detect, especially in the left adrenal, using ultrasonography. All (4/4) phenochromocytomas were detected using either CT, ultrasonography of arteriography. However, considering their occaseonal ectopic origins and multiplicity, CT is regarded the examination of choice for such lesions. All 3 of the adrenal tumors in children were detected equally well by CT, ultrasonography and arteriography. Arteriography was especially valuable in determining their precise origins. All 3 nonfunctioning tumors were equally well detected by CT, ultrasonography and arteriography; however, CT and ultrasonography are regarded of special value in clinical follow up examinations. Metastatic adrenal tumors were detected at a rate of 92% (23/25) using CT. (J.P.N.)

  17. Causes of Congenital Malformations

    OpenAIRE

    J Gordon Millichap

    2002-01-01

    The genetic epidemiology of congenital malformations (CMs) and interaction with environmental causes are reviewed from the Arkansas Center for Birth Defects, Arkansas Children’s Hospital, Little Rock, AS.

  18. Congenital Ocular Motor Apraxia

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2007-06-01

    Full Text Available The clinical and neuroradiological findings, and long-term intellectual prognosis in 10 patients (4 boys and 6 girls with congenital ocular motor apraxia (COMA are reviewed by researchers at Tottori University, Yonago, Japan.

  19. Congenital orbital teratoma

    Directory of Open Access Journals (Sweden)

    Shereen Aiyub

    2013-01-01

    Full Text Available We present a case of mature congenital orbital teratoma managed with lid-sparing exenteration and dermis fat graft. This is a case report on the management of congenital orbital teratoma. A full-term baby was born in Fiji with prolapsed right globe which was surrounded by a nonpulsatile, cystic mass. Clinical and imaging features were consistent with congenital orbital teratoma. Due to limited surgical expertise, the patient was transferred to Adelaide, Australia for further management. The patient underwent a lid-sparing exenteration with frozen section control of the apical margin. A dermis fat graft from the groin was placed beneath the lid skin to provide volume. Histopathology revealed mature tissues from each of the three germ cell layers which confirmed the diagnosis of mature teratoma. We describe the successful use of demis fat graft in socket reconstruction following lid-sparing exenteration for congenital orbital teratoma.

  20. Leber Congenital Amaurosis

    Science.gov (United States)

    ... Congenital Amaurosis Macular Degeneration Retinitis Pigmentosa Stargardt Disease Usher Syndrome Other Retinal Diseases Glossary News & Research News & ... affected by retinitis pigmentosa, age-related macular degeneration, Usher syndrome and the entire spectrum of retinal diseases. ...

  1. Congenital Ocular Motor Apraxia

    OpenAIRE

    J Gordon Millichap

    2007-01-01

    The clinical and neuroradiological findings, and long-term intellectual prognosis in 10 patients (4 boys and 6 girls) with congenital ocular motor apraxia (COMA) are reviewed by researchers at Tottori University, Yonago, Japan.

  2. Identification of congenital deafblindness

    DEFF Research Database (Denmark)

    Dammeyer, Jesper Herup

    2012-01-01

    For many reasons an accurate and straightforward identification of congenital deafblindness can be difficult. This article reports on the assessment procedures and experience in Denmark where medical examinations were combined with functional assessments performed through direct observation. The ...

  3. Congenital nephrotic syndrome

    Science.gov (United States)

    The disorder often leads to infection, malnutrition, and kidney failure. It can lead to death by age 5, and many children die within the first year. Congenital nephrotic syndrome may be controlled in some cases with early ...

  4. Congenital histiocytosis X

    International Nuclear Information System (INIS)

    Congenital histiocytosis X involving multiple organs is a rare disease that causes rapid mortality in intrauterine and neanatal life. The diagnosis of histiocytosis X (Litterer-Siwe disease should be considered in a neonate with vesiculated crusting skin lesions. We present clinical, radiographic and histopathological findings in a neonate with congenital histiocytosis who died of respiratory failure due to diffuse infilteration of lungs with histiocytic cells. Congenital histiocytosis X is a rare form of Langerhans cell histiocytosis. We report on an infant with congenital histiocytosis X who died within 10 days of birth due to diffuse infiltration of multiple organ systems with Langerhans histiocytic cells. To our knowledge, this is the first case of the radiographic illustration of progressive lung involvement in an infant with histiocytosis X. (orig.)

  5. [Adrenal insufficiency in cirrhotic patients].

    Science.gov (United States)

    Orozco, Federico; Anders, María; Mella, José; Antinucci, Florencia; Pagano, Patricia; Esteban, Paula; Cartier, Mariano; Romero, Gustavo; Francini, Bettina; Mastai, Ricardo

    2016-01-01

    Relative adrenal insufficiency (RAI) is a common finding in cirrhotic patients with severe sepsis, and increased mortality. Its significance is unknown in stable conditions. The aim of this study was to evaluate the prevalence of RAI in stable cirrhotic patients at different stages of the disease. Also, the impact of RAI on the survival was evaluated and basal cortisol levels between plasma and saliva was correlated in control subjects and cirrhotic patients. Forty seven ambulatory patients and 16 control subjects were studied. RAI was defined as a serum cortisol increase of less than 9 υg/dl from baseline after the stimulation with 250 mg of synthetic ACTH. Twenty two had Child-Pugh = 8 and 25 = 9. The prevalence of RAI in patients with stable cirrhosis was 22%. A higher incidence of RAI was observed in patients with a Child-Pugh = 9 (8/32) than in those with = 8 (3/13, p developed this complication (79% and 51%, p < 0.05, respectively). In summary, the prevalence of RAI is frequent in patients with stable cirrhosis and that it is related to the severity of liver diseaseand increased mortality. PMID:27576278

  6. Classical tachyons

    International Nuclear Information System (INIS)

    A review of tachyons, with particular attention to their classical theory, is presented. The extension of Special Relativity to tachyons in two dimensional is first presented, an elegant model-theory which allows a better understanding also of ordinary physics. Then, the results are extended to the four-dimensional case (particular on tachyon mechanics) that can be derived without assuming the existence of Super-luminal reference-frames. Localizability and the unexpected apparent shape of tachyonic objects are discussed, and it is shown (on the basis of tachyon kinematics) how to solve the common causal paradoxes. In connection with General Relativity, particularly the problem of the apparent superluminal expansions in astrophysics is reviewed. The problem (still open) of the extension of relativitic theories to tachyons in four dimensions is tackled, and the electromagnetic theory of tachyons, a topic that can be relevant also for the experimental side, is reviewed. (Author)

  7. Congenital laryngeal anomalies,

    OpenAIRE

    Rutter, Michael J.

    2014-01-01

    Introduction: It is essential for clinicians to understand issues relevant to the airway management of infants and to be cognizant of the fact that infants with congenital laryngeal anomalies are at particular risk for an unstable airway. Objectives: To familiarize clinicians with issues relevant to the airway management of infants and to present a succinct description of the diagnosis and management of an array of congenital laryngeal anomalies. Methods: Revision article, in which the ma...

  8. Congenital Cystic Lung Diseases

    Directory of Open Access Journals (Sweden)

    Aditi Jain

    2013-01-01

    Full Text Available Congenital cystic diseases of the lung are a rare but significant cause of morbidity in children and young adults presenting with respiratory distress and repeated chest infections. They consist of cystic adenomatoid malformation, bronchogenic cyst, pulmonary sequestration, and congenital lobar emphysema. Surgical treatment is a safe and an effective method of treatment. Chest X-ray and computed tomography are the key imaging modalities used for diagnosis.

  9. Congenital chylous ascites

    OpenAIRE

    Romańska-Kita, Justyna; Borszewska-Kornacka, Maria Katarzyna; Dobrzańska, Anna; Rudzińska, Iwona; Czech-Kowalska, Justyna; Wawrzoniak, Tomasz

    2011-01-01

    Summary Congenital chylous ascites is a rare entity, conditioned by numerous factors and with changing dynamics of the disease. Because of the lack of therapeutic and diagnostic standards, this disease constitutes to be a medical challenge. This article presents current knowledge on pathogenesis, diagnostics and management of this disease, as well as a case of a newborn with primary congenital chylous ascites in the abdominal cavity.

  10. Benign adrenal hemangiomas may mimic metastases on PET.

    Science.gov (United States)

    Calata, Jed F; Sukerkar, Arun N; August, Carey Z; Maker, Ajay V

    2013-11-01

    CT or MRI are utilized in the initial evaluation of adrenal incidentalomas; however, overlap exists between benign and malignant lesions on these examinations. The American College of Radiology recommends PET scans to complement CT and MRI for patients with adrenal masses and a moderate-to-high likelihood of neoplastic disease. We present images of a PET-avid adrenal lesion in a patient with pulmonary and pancreatic neoplasms that mimicked metastasis, but was found to be a benign adrenal hemangioma on surgical resection. The use of PET for adrenal tumors, specifically adrenal hemangiomas, will be reviewed. PMID:24089061

  11. STUDY OF A TYPICAL PRESENTATIONS IN CONGENITAL DIAPHRAGMATIC HERNIA

    Directory of Open Access Journals (Sweden)

    Venkata Ramana

    2015-10-01

    Full Text Available AIM: To study the clinical features and outcome of congenital Diaphragmatic Hernias with atypical presentation in Paediatric age group. Children with Eventration of Diaphragm are also included in the present study. RESULTS : 20 cases of Diaphragmatic Hernia presented with classical presentation, 4 cases with atypical Presentation and a case with recurrent diaphragmatic hernia. Atypical presentations in congenital Diaphragmatic Hernia are Stomach Volvulus and Malrotati on of Midgut with Volvulus Intestine. 3 Cases with atypical presentation succumbed to death. CONCLUSION: Congenital Diaphragmatic Hernias are common on left side and carries good prognosis. Cases with atypical clinical presentation have 75% mortality. Righ t sided Congenital Diaphragmatic Hernias are rare but carries guarded prognosis.

  12. Diagnosis of adrenal tumors with radionuclide imaging

    Energy Technology Data Exchange (ETDEWEB)

    Beierwaltes, W.H.; Sisson, J.C.; Shapiro, B.

    1984-01-01

    The development of radiolabeled cholesterols in 1969 as precursors of adrenocortical steroid production allowed the first noninvasive imaging of the adrenal cortices. FDA-NDA approval in 1984 should allow routine use of these agents in most hospitals. NP-59 is most commonly used in the diagnosis and management of Cushing syndrome; the second most common use is in the diagnosis of primary aldosteronism. It is also helpful in the differential diagnosis of adrenal and ovarian hyperandrogenism and hirsutism, and is the only noninvasive method of detecting unilateral adrenocortical hypofunction. The newest and most popular use is in the differential diagnosis of asymptomatic masses in the region of the adrenal gland discovered incidentally with CT scan (incidentalomas). In this situation, the NP-59 scan can define whether the tumor is in the adrenal gland and if it is functional or nonfunctional. The authors believe that, in the future, radiolabeled enzyme inhibitors might offer better diagnostic imaging of the adrenal cortex, although these agents will probably not be available for routine use for some time. The development of a radioiodinated guanethidine analog, /sup 131/I-MIBG, has allowed differentiation of normal adrenal medullary function from bilateral adrenal medullary hyperplasia before the development of hypertension or tachycardia, diagnostic increases in plasma or urinary catecholamines, or abnormal CT scans. The search for a pheochromocytoma should begin with /sup 131/I-MIBG scintigraphy. While over 90% of primary pheochromocytomas occur in the abdomen, neither a survey of the abdomen nor the finding of a single tumor should conclude the search.

  13. MR imaging features of adrenal rest tumor

    International Nuclear Information System (INIS)

    Objective: To investigate the imaging features of adrenal rest tumor. Methods: Twelve patients of adrenal rest tumor proved by surgery or clinical diagnosis were retrospectively analyzed. Among these 12 patients, 12 were examined with ultrasound, 11 with MR and 1 with CT. MR and CT were performed without and with intravenous injection of contrast material. The imaging features of adrenal rest tumor were retrospectively summarized and the relevant literatures reviewed. Results: The adrenal rest tumors were found in testis in 10 of the 12 patients, and in ovaries and broad ligament in the remaining two. The imaging features of the testicular adrenal rest tumor were summarized as following: all patients had bilateral testicular masses without change of the testicular contour. On ultrasonography, the lesions were hypoechoic, with some hyperechoic areas and appeared highly vascularized on Colour Doppler ultrasonography. The masses showed iso-density on plain CT, and avid enhancement on post-contrast CT images. The masses ranging in size from 0.7 cm×1.0 cm×2.2 cm to 2.3 cm ×2.7 cm ×2.9 cm with uniform signal intensity, lobulated margin on MRI. They exhibited iso- or slight hyperintensity on T1WI and hypointensity on T2WI relative to normal testicular parenchyma. The tumors showed intense enhancement on post-contrast MR images. No abnormality was detected with Colour Doppler ultrasonography and MR in 2 patients of adrenal rest tumor in ovaries and broad ligament. Conclusion: Combining imaging features with the typical clinical history,the diagnosis of adrenal rest tumor could be suggested pre-operatively. (authors)

  14. Autopsy features in a newborn baby affected by a central congenital diaphragmatic hernia.

    Science.gov (United States)

    Bolino, Giorgio; Gitto, Lorenzo; Serinelli, Serenella; Maiese, Aniello

    2015-03-01

    Congenital diaphragmatic hernia is a congenital malformation of the diaphragm, resulting in the herniation of the abdominal organs into the thoracic cavity. The most common types of congenital diaphragmatic hernia are Bochdalek hernia (postero-lateral hernia), Morgagni hernia (anterior defect), and diaphragm eventration (abnormal displacement of part or all of an otherwise intact diaphragm into the chest cavity). Congenital diaphragmatic hernia is a life-threatening pathology in infants, and a major cause of death due to pulmonary hypoplasia and pulmonary hypertension. We present a fatal case of congenital diaphragmatic hernia in a newborn. At the autopsy, a central defect of the diaphragm was found, 8 × 5 cm in size, that led to a herniation of the small intestine, the right lobe of the liver, and the right adrenal gland into the thorax. An esophageal atresia was associated with the congenital diaphragmatic hernia. The lungs showed severe hypoplasia and atelectasia. Physicians should pay attention to a prenatal diagnosis of congenital diaphragmatic hernia in order to prevent newborn fatalities. PMID:25573226

  15. Abundance of DLK1, differential expression of CYP11B1, CYP21A2 and MC2R, and lack of INSL3 distinguish testicular adrenal rest tumours from Leydig cell tumours

    DEFF Research Database (Denmark)

    Poulsen, Grete Lottrup; Nielsen, John E; Skakkebæk, Niels E; Juul, Anders; Rajpert-De Meyts, Ewa

    2015-01-01

    cells (LCs), and masses consisting of such cells are occasionally misclassified as malignant testicular tumours, which may lead to erroneous orchiectomy in these patients. DESIGN: In this study, we aimed to investigate the potential of LC developmental markers and adrenal steroidogenic markers in the......OBJECTIVE: Testicular adrenal rest tumours (TARTs) are a common finding in patients with congenital adrenal hyperplasia (CAH). These tumours constitute a diagnostic and management conundrum and may lead to infertility. TART cells share many functional and morphological similarities with Leydig...... differential diagnosis of TARTs and malignant LC tumours (LCTs). METHODS: We investigated mRNA and protein expression of testicular steroidogenic enzymes; CYP11A1 and HSD3B1/2, markers of adrenal steroidogenesis; CYP11B1, CYP21A2 and ACTH receptor/melanocortin 2 receptor (MC2R), and markers of LC maturation...

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

    Directory of Open Access Journals (Sweden)

    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.

  17. Unusual presentation of oesophageal carcinoma with adrenal metastasis

    International Nuclear Information System (INIS)

    Adrenal gland is a common site of metastasis in many cancers but it is very rare in oesophageal carcinoma. We report one such case found to have adrenal metastasis on follow-up PET/computed tomography scan

  18. Giant myelolipoma of the adrenal gland: natural history

    International Nuclear Information System (INIS)

    Adrenal myelolipomas are rare benign, non functioning tumors, mostly small and asymptomatic. We report the natural history of a giant adrenal myelolipoma. We could follow with CT the natural progression of the tumor during a 5-year interval. (orig.)

  19. What Should You Ask Your Doctor about Adrenal Cortical Cancer?

    Science.gov (United States)

    ... after treatment for adrenal cancer? What should you ask your doctor about adrenal cancer? As you deal ... frank, open discussions with your cancer care team. Ask any questions, no matter how trivial they might ...

  20. Joint survey of adrenal tumors in the kyushu-Okinawa district. Imaging characteristics of adrenal tumors

    International Nuclear Information System (INIS)

    Imaging characteristics of adrenal tumors in 183 cases experienced in the Kyushu-Okinawa district over a 2-year period from 1991 to 1992 were studied. Computerized tomography (CT) was the most accurate imaging technique for the detection of adrenal masses (detection ratio: 98.3%). Magnetic resonance imaging (MRI) was also a useful method in evaluating adrenal masses (detection ratio: 95.7%). On CT and MRI, pheochromocytoma and malignant tumor (metastatic and adrenocortical cancer) most often had an unsharply defined margin and heterogeneous structures. Eighty-two percent of cases with pheochromocytoma showed a very high signal intensity compared with that of the liver on T2-weighted images of MRI. The size of the adrenal mass was the most helpful finding in distinguishing malignancy from a benign asymptomatic adrenal lesion. Surgical exploration may be recommended for an incidental adrenal mass measuring more than 6 cm in diameter because there is a high probability for malignancy. Any lesions measuring less than 3 cm in diameter may be safely followed up, providing there is no evidence of a malignant lesion in any other organs, and providing that the CT appearance of the adrenal gland is homogeneous. The management of lesions between 3 and 6 cm in size should be individualized, by reference to other imaging characteristics. (author)

  1. 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.

  2. Imaging of the adrenal gland lesions

    Energy Technology Data Exchange (ETDEWEB)

    Herr, Keith [Department of Radiology, Keck School of Medicine, University of Southern California, Los Angeles, CA (United States); Muglia, Valdair F. [Universidade de Sao Paulo (FMRP/USP), Ribeirao Preto, SP (Brazil). Faculdade de Medicina; Koff, Walter Jose [Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS (Brazil). Faculdade de Medicina. Dept. de Cirurgia; Westphalen, Antonio Carlos, E-mail: antonio.westphalen@ucsf.edu [Departments of Radiology and Biomedical Imaging and Urology, School of Medicine, University of California, San Francisco, CA (United States)

    2014-07-15

    With the steep increase in the use of cross-sectional imaging in recent years, the incidentally detected adrenal lesion, or 'incidentaloma', has become an increasingly common diagnostic problem for the radiologist, and a need for an approach to classifying these lesions as benign, malignant or indeterminate with imaging has spurred an explosion of research. While most incidentalomas represent benign disease, typically an adenoma, the possibility of m alignant involvement of the adrenal gland necessitates a reliance on imaging to inform management decisions. In this article, we review the literature on adrenal gland imaging, with particular emphasis on computed tomography, magnetic resonance imaging, and photon-emission tomography, and discuss how these findings relate to clinical practice. Emerging technologies, such as contrast-enhanced ultrasonography, dual-energy computed tomography, and magnetic resonance spectroscopic imaging will also be briefly addressed. (author)

  3. Imaging of the adrenal gland lesions

    Directory of Open Access Journals (Sweden)

    Keith Herr

    2014-08-01

    Full Text Available With the steep increase in the use of cross-sectional imaging in recent years, the incidentally detected adrenal lesion, or "incidentaloma", has become an increasingly common diagnostic problem for the radiologist, and a need for an approach to classifying these lesions as benign, malignant or indeterminate with imaging has spurred an explosion of research. While most incidentalomas represent benign disease, typically an adenoma, the possibility of malignant involvement of the adrenal gland necessitates a reliance on imaging to inform management decisions. In this article, we review the literature on adrenal gland imaging, with particular emphasis on computed tomography, magnetic resonance imaging, and photon-emission tomography, and discuss how these findings relate to clinical practice. Emerging technologies, such as contrast-enhanced ultrasonography, dual-energy computed tomography, and magnetic resonance spectroscopic imaging will also be briefly addressed.

  4. Adrenal Schwannomas: Rare Tumor of the Retroperitoneum.

    Science.gov (United States)

    Grasso, Emanuele; Simone, Michele

    2015-01-01

    Schwannoma is a benign neurogenic tumor originating from Schwann cells. These produce the myelin sheath that covers peripheral nerves that are often affected. This latter localization is extremely rare, and only a few case reports can be found in the medical literature. Studies have shown that approximately 0.5% to 5% of schwannomas are retroperitoneal, constituting 0.2% of adrenal incidental tumors. These usually present as incidental findings, nonsecreting adrenal masses in asymptomatic patients. Diagnosis of a schwannoma is based on detection of spindle cells with Antoni A and Antoni B regions in histological sections and positive staining for S-100 protein by immunohistochemical analysis. We report a case of an incidentally identified during an abdominal ultrasound examination with schwannoma localized in the left adrenal gland. PMID:26101687

  5. Principles and management of adrenal cancer

    International Nuclear Information System (INIS)

    This book provides information on adrenal diseases of latest developments and guides the clinicians in the care of their patients. The book is divided into two parts. The first section gives an overview of the embryology, anatomy, physiology, markers, pathology, imaging and the current progress in the field. The second edition covers specific diseases of the adrenal cortex and medulla. The increasingly significant roles played by steroids, catecholamines, blockers, computed tomography and magnetic resonance are elucidated and discussed. The contents include: Overview of progress; current problems, and perspectives - embryology anatomy, physiology, and biologic markers; pathology; advances in diagnosis; imaging techniques; adrenal disorders in childhood; primary aldosteronism; Cushing's syndrome; carcinoma; pheochromocytoma; neuroblastoma; metastatic disease; surgical management; and subject index

  6. Functioning adrenal myelolipoma: A rare cause of hypertension

    OpenAIRE

    Nagendar Jakka; J Venkateshwarlu; Naga Satyavani; Neelaveni, K.; Jayanthy Ramesh

    2013-01-01

    Co-occurrence of adrenal incidentaloma with hypertension calls for evaluation of endocrine causes including pheochromocytoma, Cushing′s disease, and primary aldosteronism. We are reporting 40-years-old man who presented with hypertension and adrenal mass. He had elevated metanephrines, histology of resected adrenal mass revealed adrenal myelolipoma, and immuno-histochemistry was positive for chromogranin A. Both his blood pressure and urinary metanephrines returned to normal after surgery. Th...

  7. Renal and adrenal tumors. 2. rev. ed.

    International Nuclear Information System (INIS)

    In this new, second edition on diseases of the kidney and adrenal glands, research on pathological anatomy forms a solid platform from which the multiplicity of renal and adrenal tumors are discussed. Aspects as diverse as radiology, pathology, urology, pediatrics and immunology have been brought together in one book. The most up-to-date methods of tumor diagnosis by CT, NMR, and ultrasound are covered, as are methods of catheter embolization and radiation techniques in cases of primarily inoperable tumors. In this second edition the chapter on CT in particular has been revised, while the chapter on MRI is entirely new. (orig./MG)

  8. Limitations of MR imaging characterization of adrenal masses

    International Nuclear Information System (INIS)

    The ability of MR images at 1.5T to characterize 24 adrenal masses was evaluated by means of several variables recommended in the literature: (1) signal intensity ratios (adrenal-liver and adrenal-fat) at both short repetition time (TR)/short echo time (TE) (500-800/20-25) and long TR/long TE (2,000-2,500/80), (2) T2 relaxation times of adrenal masses, and (3) ratios of adrenal T2 to liver and fat T2. In the authors' series, signal intensity ratios were not reliable for characterization of adrenal masses. Adrenal T2 values were more useful: all 13 adrenal masses with T2 less than 60 msec were adenomas. However, greater than 60 msec was less specific, including four metastases, two pheochromocytomas, two adenomas, two adrenal hemorrhages, and one adrenocortical carcinoma. Ratios of T2 values were less accurate than T2 values of the adrenal gland alone. The authors conclude that T2 values of adrenal glands are more accurate than signal intensity ratios for characterization of adrenal masses at 1.5T, although masses with T2 greater than 60 msec may require biopsy

  9. Congenital cataract screening

    Directory of Open Access Journals (Sweden)

    Zhale Rajavi

    2016-01-01

    Full Text Available Congenital cataract is a leading cause of visual deprivation which can damage the developing visual system of a child; therefore early diagnosis, management and long-term follow-up are essential. It is recommended that all neonates be screened by red reflex examination at birth and suspected cases be referred to ophthalmic centers. Early surgery (1 year is highly recommended. After surgery, amblyopia treatment and periodic follow-up examinations should be started as soon as possible to achieve a satisfactory visual outcome. Practitioners should consider the possibility of posterior capsular opacity, elevated intraocular pressure and amblyopia during follow-up, especially in eyes with microphthalmia and/or associated congenital anomalies. All strabismic children should undergo slit lamp examination prior to strabismus surgery to rule out congenital lens opacities. From a social point of view, equal and fair medical care should be provided to all children regardless of gender.

  10. Congenital laryngeal anomalies,

    Directory of Open Access Journals (Sweden)

    Michael J. Rutter

    2014-12-01

    Full Text Available Introduction: It is essential for clinicians to understand issues relevant to the airway management of infants and to be cognizant of the fact that infants with congenital laryngeal anomalies are at particular risk for an unstable airway. Objectives: To familiarize clinicians with issues relevant to the airway management of infants and to present a succinct description of the diagnosis and management of an array of congenital laryngeal anomalies. Methods: Revision article, in which the main aspects concerning airway management of infants will be analyzed. Conclusions: It is critical for clinicians to understand issues relevant to the airway management of infants.

  11. Congenital midline nasofrontal masses.

    Science.gov (United States)

    Saettele, Megan; Alexander, Alan; Markovich, Brian; Morelli, John; Lowe, Lisa H

    2012-09-01

    Congenital midline nasal masses are uncommon anomalies including nasal dermoids/epidermoids, nasal glial heterotopias and encephaloceles. These lesions can occur at the nasal bridge, extend intranasally and have intracranial extension with communication to the subarachnoid space. Therefore, accurate diagnosis of these lesions is critically important for presurgical planning and prevention of potentially fatal complications. Neuroimaging is essential in the evaluation of congenital midline nasal masses to identify the specific type of lesion, evaluate for the presence of intracranial extension and allow for appropriate presurgical planning. PMID:22648391

  12. Congenital heart disease

    Institute of Scientific and Technical Information of China (English)

    1995-01-01

    950283 Surgical treatment of congenital coronaryartery fistula.CAO Qingheng(曹庆亨),et al.DeptCardiovasc Surg,Shanghai Chest Hosp,Shanghai,200030.Shanghai Med J 1995;18(1):10-12.From October 1957 through December 1990,twenty-five patients with congenital coronary artery fistula(CCAF),including 3 cases complicated with giantcoronary artery aneurysms,underwent surgical repair.The ages ranged from 4 to 47 years (mean 19.8years).CCAF originated from the right coronaryartery in 17 cases (68.0%) and terminated into RA,RV,pulmonary artery (PA) or LV,in 8 cases (32.

  13. Congenital spinal malformations

    International Nuclear Information System (INIS)

    Congenital spinal malformations form a complex and heterogeneous group of disorders whose pathogenesis is best explained embryologically. Radiologically, it is important to formulate a diagnosis when the disorder first becomes symptomatic. However, it is also crucial to detect complications of the disorder or of the respective therapeutic interventions in the further course of the disease such as hydromyelia or re-tethering after repair of a meningomyelocele. Moreover, once a congenital spinal malformation is diagnosed, associated malformations should be sought after. A possible syndromal classification such as in OEIS- or VACTERL-syndromes should also be considered. (orig.)

  14. Ullrich Congenital Muscular Dystrophy

    Directory of Open Access Journals (Sweden)

    Goknur Haliloglu

    2011-06-01

    Full Text Available ObjectiveUllrich congenital muscular dystrophy is a rather severe type of congenital muscular dystrophy with early onset features related to motor development.In general it is inherited in autosomal recessive principles, however in the Western world mostly seen with de novo dominant mutations in the collagen VI genes. Milder form of the condition is the Bethlem myopathy. There may be overlap forms in the clinic resembling the Ehler-Danlos syndrome. There has been some radical efforts for cure especially through the apoptosis cascades.

  15. Congenital pancreatic cysts

    Directory of Open Access Journals (Sweden)

    Seddighy A

    1998-07-01

    Full Text Available Congenital cyst of the pancreas is an uncommon problem in the pediatric patient. The common symptoms at the time of diagnosis have been abdominal mass and pain or fullness, nausea and vomiting. Despite of various paraclinic methods for diagnosis, ultrasound is now recognized as the most effective and best noninvasive method for diagnosis of pancreatic cyts. Surgical intervention is the best mode of therapy. Upper abdominal cystic mass are seen in the fetus and newborn infants. In Amirkabir Hospital, during 12 years from 1981 to 1993, 8 pancreatic cysts have been operated on and only in this case it was congenital.

  16. Congenital Pulmonary Alveolar Proteinosis

    Directory of Open Access Journals (Sweden)

    Saber Hammami

    2013-01-01

    Full Text Available Pulmonary alveolar proteinosis (PAP is a rare syndrome characterized by pulmonary surfactant accumulation within the alveolar spaces. It occurs with a reported prevalence of 0.1 per 100,000 individuals. Two clinically different pediatric types have been defined as congenital PAP which is fatal and a late-onset PAP which is similar to the adult form and less severe. The clinical course of PAP is variable, ranging from spontaneous remission to respiratory failure. Whole-lung lavage is the current standard treatment for PAP patients. We report a new congenital case of PAP.

  17. CONGENITAL HYPERINSULINISM (HYPERAMMONEMIA HYPERINSULINISM

    Directory of Open Access Journals (Sweden)

    Garuda Rama

    2015-02-01

    Full Text Available BACKGROUND: Congenital hyperinsulinism causing hypoglycemia. CASE CHARACTERISTICS : 1yr child with hypoglycemic convulsion. OBSERVATION: High insulin levels on fasting, hyperammonemia, diffuse hyperplasia of pancreas on PET dopa scan. OUTCOME: Good response to frequent glucose feeds and diazoxide. MESSAGE: Any child presenting with convulsion needs blood sugar estimation and hypoglycemia if any, should be thoroughly investigated. Congenital hyperinsulinism comprises a group of different genetic disorders with the common finding of recurrent episodes of hyperinsulinemic hypoglycemia due to inappropria te secretion of insulin by pancreatic β - islet cells. Hyperammonemia hyperinsulinism is due to type - 3 diffuse hyperinsulinism transmitted as autosomal dominant due to mutation in glutamate dehydrogenase gain of function mutation

  18. Congenital syphilis in the newborn.

    OpenAIRE

    Chawla, V.; Pandit, P B; Nkrumah, F K

    1988-01-01

    We studied 53 newborn babies with congenital syphilis. The common clinical features seen were low birth weight, hepatosplenomegaly, anaemia, jaundice, and symmetrical superficial desquamation of the skin affecting palms and soles. The presence of these clinical signs is highly suggestive of early congenital syphilis. Hydrops fetalis without rhesus or ABO isoimmunisation should always arouse the suspicion of congenital syphilis.

  19. Tumor disease and associated congenital abnormalities on prenatal MRI

    International Nuclear Information System (INIS)

    Objective: Fetal tumors can have a devastating effect on the fetus, and may occur in association with congenital malformations. In view of the increasing role of fetal magnetic resonance imaging (MRI) as an adjunct to prenatal ultrasonography (US), we sought to demonstrate the visualization of fetal tumors, with regard to congenital abnormalities, on MRI. Materials and methods: This retrospective study included 18 fetuses with tumors depicted on fetal MRI after suspicious US findings. An MRI standard protocol was used to diagnose tumors judged as benign or malignant. All organ systems were assessed for tumor-related complications and other congenital malformations. Available US results and histopathology were compared with MRI. Results: There were 13/18 (72.2%) benign and 5/18 (27.8%) malignant tumors diagnosed: a cerebral primitive neuroectodermal tumor in 1/18, head–neck teratomas in 4/18; ventricular rhabdomyomas in 4/18; a cardiac teratoma in 1/18; a hepatoblastoma in 1/18; neuroblastomas in 2/18; a cystic hemorrhagic adrenal hyperplasia in 1/18; a pelvic leiomyoma in 1/18; sacrococcygeal teratomas in 3/18. Tumor-related complications were present in 13/18 (72.2%) cases; other congenital abnormalities in 3/18 (16.7%). MRI diagnosis and histology were concordant in 8/11 (72.7%) cases. In 6/12 (50%) cases, US and MRI diagnoses were concordant, and, in 6/12 (50%) cases, additional MRI findings changed the US diagnosis. Conclusion: Our MRI results demonstrate the visualization of fetal tumors, with frequently encountered tumor-related complications, and other exceptional congenital abnormalities, which may provide important information for perinatal management. Compared to prenatal US, MRI may add important findings in certain cases.

  20. Bilateral adrenal histoplasmosis in an immunocompetent man Histoplasmose adrenal bilateral em um homem imunocompetente

    Directory of Open Access Journals (Sweden)

    Carlos Frederico Lopes Benevides

    2007-04-01

    Full Text Available Histoplasmosis is a fungal disease that is endemic in Brazil. It may present as chronic pulmonary infection or in disseminated form. Disseminated histoplasmosis frequently affects the adrenal gland; however, unilateral involvement in immunosuppressed patients is the usual presentation. We report a case of an elderly immunocompetent male with history of weight loss, fever and bilateral adrenal mass who was successfully treated with itraconazole.Histoplasmose é uma doença fúngica endêmica no Brasil que pode se apresentar como infecção pulmonar crônica ou na forma disseminada. A histoplasmose disseminada freqüentemente acomete a glândula adrenal; entretanto, ocorre mais em pacientes imunossuprimidos e de forma unilateral. Relatamos um caso de um homem idoso imunocompetente com história de perda de peso, febre e massa adrenal bilateral que foi tratada com itraconazol, com sucesso.

  1. Incidentaloma gigante de adrenal em paciente jovem Giant adrenal incidentaloma in young patient

    Directory of Open Access Journals (Sweden)

    Cristiano Feijó Andrade

    2000-10-01

    Full Text Available 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, São Paulo, with abdominal pain and a palpated mass in the epigastrium which began one month ago. These findings were preceeded 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.

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

    International Nuclear Information System (INIS)

    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)

  3. CT manifestations of adrenal trauma: experience with 73 cases.

    Science.gov (United States)

    Sinelnikov, Alex O; Abujudeh, Hani H; Chan, David; Novelline, Robert A

    2007-03-01

    Adrenal injuries, although an uncommon consequence of abdominal trauma, are important to recognize. If bilateral, adrenal trauma could result in life-threatening adrenal insufficiency. Furthermore, in the setting of trauma, adrenal injury can point to other concomitant injuries and has been associated with overall increased morbidity and mortality. In the past, before the advent of computed tomography (CT), detection was difficult, and the diagnosis was often made only at surgery or postmortem. Today, the diagnosis of adrenal injuries can be quickly and accurately made with CT. This retrospective review was carried out to identify, describe, and analyze different CT appearances of adrenal injuries and correlated with associated injuries and observed clinical context and outcomes. A patient cohort of CT-detected adrenal injuries was identified through a radiology software research tool by searching for keywords in radiology reports. The identified CT scans were reviewed and correlated with the patients' available clinical chart data and follow-up. Between April 1995 and October 2004, 73 cases of CT-detected adrenal injuries were identified, including 48 men and 25 women, with an age range 6 to 90 years and a mean age of 42.7 years. Of the cases, 77% were right-sided, 15% were left-sided, and 8% were bilateral. The causes of injuries were motor vehicle collisions (75%), falls (14%), sports related (4%), and miscellaneous causes (7%). Associated trauma included injuries of the liver (43%), spleen (23%), lung (19%), and kidney (18%), as well as pneumothoraces/hemothoraces (22%). Skeletal injuries included fractures of the ribs, clavicles, and/or scapulae (39%), pelvis and hips (30%), and the spine (23%). Isolated adrenal trauma was seen in only 4% of the cases. The CT findings of adrenal trauma were focal hematoma (30%), indistinct (27%) or enlarged (18%) adrenal gland, gross (15%) or focal (7%) adrenal hemorrhage, and adrenal mass (11%). Associated CT findings

  4. Functioning adrenal myelolipoma: A rare cause of hypertension

    Directory of Open Access Journals (Sweden)

    Nagendar Jakka

    2013-01-01

    Full Text Available Co-occurrence of adrenal incidentaloma with hypertension calls for evaluation of endocrine causes including pheochromocytoma, Cushing′s disease, and primary aldosteronism. We are reporting 40-years-old man who presented with hypertension and adrenal mass. He had elevated metanephrines, histology of resected adrenal mass revealed adrenal myelolipoma, and immuno-histochemistry was positive for chromogranin A. Both his blood pressure and urinary metanephrines returned to normal after surgery. The association of hypertension and adrenal myelolipoma may not be entirely coincidental, as it may be associated with secreting catecholamine. Literature on such an uncommon association is reviewed briefly as well.

  5. Adrenal venous sampling using Dyna-CT—A practical guide

    International Nuclear Information System (INIS)

    Primary hyperaldosteronism due to aldosterone secreting adrenal adenomas is an important and potentially curable cause for hypertension. The differentiation between unilateral or bilateral adrenal adenomas is crucial, as unilateral adenomas can easily be cured by surgery whereas bilateral adenomas have to be treated conservatively. Exact diagnosis can be made when unilateral or bilateral hormone production is proven with adrenal vein sampling. We present an effective step-by-step technique how to perform an adrenal vein sampling with a special emphasis on how to reliably catheterize the right adrenal vein using Dyna CT

  6. Congenital angular deformities of the leg : congenital pseudoarthrosis and congenital posteromedial angulation of the tibia

    OpenAIRE

    Güner, Dr. Güntekin; Elmalı, Dr. Nurzat; Ayan, Dr. İrfan; Ataşlı, Dr. Nusret

    1996-01-01

    Congenital angular deformities of the leg are rare. Congenital anterolateral angulation of the tibia is a complex deformity which needs close observation because, fracture and pseudoarthrosis are always potential risk. Here we report 4 cases in which two had congenital pseudoarthrosis of the tibia and the other two had congenital posteromedial angulation of the tibia which were managed between 1994-1996 and the related literature were reviewed. [Journal of Turgut Ozal Medical Center 1996;3(4)...

  7. Isolated hydatid cyst of the adrenal gland

    Directory of Open Access Journals (Sweden)

    Grubor Nikica

    2006-01-01

    Full Text Available Introduction: Hydatid cyst of the adrenal gland is extremely rare even in generalized hydatid disease, with less than 20 cases reported in world literature including those found in autopsy. Case outline: The authors present the second case of the adrenal gland hydatid cyst described in Serbian literature, in 52-year old woman. During the investigation for the epigastric pain by ultrasonography and computed tomography, calcified cyst of the sixth segment of the liver, 44Ч39 mm in diameter, was diagnosed. However, during an open surgery, it turned out to be the cyst of the right adrenal gland. The cyst as well as the entire adrenal gland was removed. The hydatid nature of the cyst was confirmed by histological examination. The postoperative recovery was uneventful. The patient has remained symptom-free over two years after the surgery. Conclusion: To the best of our knowledge, this is the second case reported in Serbian and 18th case published in world literature.

  8. Adrenal insufficiency in patients with decompensatedcirrhosis

    Institute of Scientific and Technical Information of China (English)

    2015-01-01

    Adrenal reserve depletion and overstimulation of thehypothalamus-pituitary-adrenal (HPA) axis are causesfor adrenal insufficiency (AI) in critically ill individuals.Cirrhosis is a predisposing condition for AI in cirrhotics aswell. Both stable cirrhotics and liver transplant patients(early and later after transplantation) have been reportedto present AI. The mechanisms leading to reducedcortisol production in cirrhotics are the combination oflow cholesterol levels (the primary source of cortisol), theincreased cytokines production that overstimulate andexhaust HPA axis and the destruction of adrenal glandsdue to coagulopathy. AI has been recorded in 10%-82%cirrhotics depending on the test used to evaluate adrenalfunction and in 9%-83% stable cirrhotics. The similarityof those proportions support the assumption that AI isan endogenous characteristic of liver disease. However,the lack of a gold standard method for AI assessmentand the limitation of precise thresholds in cirrhoticsmake difficult the recording of the real prevalence of AI.This review aims to summarize the present data overAI in stable, critically ill cirrhotics and liver transplantrecipients. Moreover, it provides information about thecurrent knowledge in the used diagnostic tools and thepossible effectiveness of corticosteroids administration incritically ill cirrhotics with AI.

  9. Adrenal myelolipoma: Diagnosis by MR imaging

    International Nuclear Information System (INIS)

    Myelolipoma is an uncommon, benign, adrenal lesion composed of fatty tissue and bone marrow elements. The presence of fat within this tumor is the key factor in identification and noninvasive diagnosis with imaging methods. Since fat has a characteristic behavior reflected by the MR signal intensity, a specific diagnosis can be made by MRI. (orig.)

  10. Adrenal Insufficiency - Aetiology, Diagnosis and Treatment

    Directory of Open Access Journals (Sweden)

    Nazma Akter

    2015-03-01

    Full Text Available Adrenal insufficiency is caused by either primary adrenal failure or by hypothalamic-pituitary impairment of the corticotropic axis. Adrenal insufficiency, first codified in 1855 by Thomas Addison, remains relevant in 2014 because of its lethal nature. Though, it is a rare disease but is life threatening when overlooked. Main presenting symptoms such as fatigue, anorexia and weight loss are nonspecific, thus diagnosis is often delayed. The diagnostic work-up is well established but some pitfalls remain. The diagnosis is adequately established by the 250 μg ACTH (adrenocorticotropic hormone stimulation test in most cases. Glucocorticoids provide life saving treatment but long-term quality of life is impaired, perhaps because therapy is not given in a physiologic way. Dehydroepiandrosterone-replacement therapy has been introduced that could help to restore quality of life. It may be useful in pubertal girls, but not in adults. Monitoring of glucocorticoid-replacement is difficult due to lack of objective methods of assessment and is therefore largely based on clinical grounds. Thus, long-term management of patients with adrenal insufficiency remains a challenge, requiring an experienced specialist.

  11. Mielolipoma adrenal bilateral em um cão Bilateral adrenal myelolipoma in a dog

    Directory of Open Access Journals (Sweden)

    Silvia de Araújo França

    2008-08-01

    Full Text Available O presente relato descreve um caso de mielolipoma adrenal bilateral em uma cadela Poodle de 13 anos de idade. O cão morreu por peritonite séptica aguda, decorrente de ulceração e perfuração intestinal por corpo estranho linear. O neoplasma foi achado incidentalmente durante a necropsia. Macroscopicamente, as adrenais estavam redondas e com volume e aumentados. Ao corte elas eram friáveis, vermelho-amarronzadas, intercaladas por áreas branco-amareladas levemente proeminentes. Histologicamente, extensas áreas do parênquima continham adipócitos bem diferenciados, células hematopoéticas e macrófagos com hemossiderina, achados característicos de mielolipoma adrenal.A case of bilateral adrenal myelolipoma in a 13-year-old female Poodle is reported. Acute septic peritonitis due to intestinal ulceration and perforation caused by a linear foreign body was the cause of death. The adrenal neoplasm was an incidental necropsy finding. The adrenal glands were grossly rounded, enlarged and friable, and had red-brownish parenchyma interwoven by slightly prominent white-yellowish foci. Histologically, the findings of differentiated adipocytes in large areas of the parenchyma, in association to hematopoietic cells and macrophages with hemosiderin were consistent with the diagnosis of adrenal myelolipoma.

  12. Congenital CMV Infection

    Science.gov (United States)

    ... infect the baby. This can happen when a pregnant woman experiences a first-time infection, a reinfection with a different CMV strain (variety), ... passed their newborn hearing test. Diagnosis Congenital CMV ... newborn baby’s saliva, urine, or blood. Such specimens must be collected for ...

  13. Congenital heart disease

    Institute of Scientific and Technical Information of China (English)

    1997-01-01

    970296 Evaluating the degree of pulmonary vascularlesions in congenital heart disease with selective pul-monary angiography. PAN Shiwei(潘世伟), et al.Fuwai Hosp, CAMS & PUMC, Beijing, 100037. Chin JCardiol 1997; 25(1): 39-41. Objective: To evaluate the degree of pulmonary vas-

  14. CONGENITAL PATELLA LUXATION

    OpenAIRE

    Cakmak, Mehmet; Taser, Omer; Domanic, Unsal; Temelli, Yener; Karamehmetoglu, Mahmut

    2004-01-01

    Five cases of congenital patella luxation which is rarely seen, have been presented. The diagnosis and treatment problems of this disease have been discussed in our cases with literature on the subject. It was concluded the method of the plastic of Williams-Picat quadriceps performed in the unification with the method of Krogius is the most appropriate form of treatment.

  15. Congenital Lumbar Hernia

    OpenAIRE

    Sanjay Sharma; Gagan Bali; Satish Parihar; Neeraj Koul

    2008-01-01

    Lumbar hernia is a rare hernia. It constitutes less than one percent of all abdominal hernias. It can becongenital or acquired. Acquired can occur either spontaneously or after surgery or trauma. Only 300cases of lumbar hernia are reported till date. We report a case of congenital lumbar hernia in one month oldmale baby

  16. Congenital Lumbar Hernia

    Directory of Open Access Journals (Sweden)

    Sanjay Sharma

    2008-01-01

    Full Text Available Lumbar hernia is a rare hernia. It constitutes less than one percent of all abdominal hernias. It can becongenital or acquired. Acquired can occur either spontaneously or after surgery or trauma. Only 300cases of lumbar hernia are reported till date. We report a case of congenital lumbar hernia in one month oldmale baby

  17. Congenital Absence of Tibia

    Directory of Open Access Journals (Sweden)

    Sudesh Sharma, Saleem Mir, Vikrant Sharma, Irshad Dar, Rafee

    2002-10-01

    Full Text Available Congenital absence of tibia is a rare anomaly. We repol1 a case who presented at the age of 3 years withabsence of tibia right side with associated anomolies and was managed by reconstruction of the kneeand ankle joints b transfer of fibula

  18. Severe congenital neutropenia

    DEFF Research Database (Denmark)

    Borregaard, Niels

    2014-01-01

    In this issue of Blood, Tidwell et al1 demonstrate that mutations in the start codon (protein synthesis is initiated at the codon ATG) of neutrophil elastase (ELANE) result in the production of N-terminally truncated elastase, which mislocates to the nucleus and results in severe congenital neutr...... neutropenia (SCN)....

  19. Bilateral Congenital Diaphragmatic Hernia

    OpenAIRE

    Dhua, Anjan K; Aggarwal, Satish K; NB Mathur; GR Sethi

    2012-01-01

    Bilateral congenital diaphragmatic hernia (CDH) is a rare birth defect, with a poor prognosis. We describe a case of bilateral CDH discovered while repairing the right sided CDH. Diaphragmatic defect was repaired and a silo was applied on the abdominal wound to avoid abdominal compartment syndrome. The patient however died postoperatively due to severe pulmonary hypertension.

  20. Congenital temporal triangular alopecia.

    OpenAIRE

    Bargman, H

    1984-01-01

    Congenital temporal triangular alopecia is a form of nonscarring alopecia that, as its name suggests, is present at birth. Four cases are reported. One patient underwent hair transplantation, which was successful and might be useful in other patients. Cases occurring in a father and his son suggest for the first time a genetic link.

  1. Computed tomography of the adrenals in patients with tuberculosis

    International Nuclear Information System (INIS)

    We evaluated the adrenals of individuals without tuberculosis (group 1 - G1) and with tuberculosis (group 2 - G2) using computed tomography. The antero-posterior length, the thickness, and the longitudinal length of the adrenals were compared in G1 and G2. The duration of the disease, the occurrence of morphologic abnormalities in G2, the distribution according to sex, age and skin color were also studied. There was difference in the antero-posterior length and thickness of right adrenal between G1 and G2. A higher prevalence of white skin male individuals was observed in G2. There was no association between duration of the disease and the occurrence of morphologic abnormalities in G2. A higher occurrence of adrenal enlargement was observed in G2. The main computed tomography findings in patients with tuberculosis were enlargement of the adrenal without calcification, enlargement of the adrenal with punctiform calcifications, and residual calcification of the adrenal. (author)

  2. MR characterization of adrenal masses by T1-weighted imaging

    International Nuclear Information System (INIS)

    Differentiation of benign from malignant adrenal masses was investigated using a T1-weighted (echo time, 20 msec; repetition time, 250 msec) spin-echo sequence at 0.5 T. Of 35 adrenal masses studied, all those with adrenal mass/liver intensity ratios ≤0.71 were metastases, and all with ratios ≥0.78 were adenomas. Using adrenal mass/fat intensity ratios, eight of nine masses with ratios ≤0.35 were metastases, and all with ratios ≥0.42 were benign. Of the masses, 31% were indeterminate using adrenal/liver and 29% using adrenal/fat intensity ratios. Similar overlap has been reported for T2-weighted imaging techniques. These data suggest that T1-weighted imaging has a specificity similar to that reported for T2-weighted imaging in characterizing adrenal masses, but allows shorter scan times and provides better anatomic resolution

  3. A three-year-old boy with X-linked adrenoleukodystrophy and congenital pulmonary adenomatoid malformation: a case report

    Directory of Open Access Journals (Sweden)

    Cakan Nedim

    2009-12-01

    Full Text Available Abstract Introduction X-linked adrenoleukodystrophy leads to demyelination of the nervous system, adrenal insufficiency, and accumulation of long-chain fatty acids. Most young patients with X-linked adrenoleukodystrophy develop seizures and progressive neurologic deficits, and die within the first two decades of life. Congenital or acquired disorders of the respiratory system have not been previously described in patients with X-linked adrenoleukodystrophy. Case presentation A 3-year-old Arabic boy from Yemen presented with discoloration of the mucous membranes and nail beds, which were considered cyanoses due to methemoglobinemia. He also had shortness of breath, fatigue, emesis and dehydration episodes for which he was admitted to our hospital. Chest radiograph and chest computed tomography scans showed congenital pulmonary adenomatoid malformation. A few weeks before the removal of the malformation, he had a significant episode of hypotension and hypoglycemia. This development required further in-hospital evaluation that led to the diagnosis of adrenal insufficiency and the initiation of treatment with corticosteroids. One year later, he developed seizures and loss of consciousness. Magnetic resonance imaging of his head showed diffuse demyelination secondary to X-linked adrenoleukodystrophy. He was treated with anti-seizure and anti-oxidants, and was referred for bone marrow transplant evaluation. Conclusion The presence of adrenal insufficiency, neurologic deficits and seizures are common manifestations of X-linked adrenoleukodystrophy. The association of congenital lung disease with X-linked adrenoleukodystrophy or Addison's disease has not been described previously.

  4. The role of radiolabeled somatostatin analogs in adrenal imaging

    International Nuclear Information System (INIS)

    We investigated the role of radiolabeled somatostatin analogs (SAs) in adrenal imaging. We evaluated 15 patients (6 men and 9 women, mean age 47 ± 17 years) with imaging-detected adrenal tumors. Patient population was divided into two groups on the basis of the nature of adrenal lesions. Group 1 consisted of patients with benign adrenal lesions (n = 10). Group 2 consisted of patients with malignant adrenal lesions (n = 5). Pathology examinations were obtained in 13 cases: 7 pheochromocytomas, 2 adenomas, 2 cysts, 1 carcinoma, and 1 fibro-histiocytoma. One patient had a proven diagnosis of non-small-cell lung cancer associated with the presence of a right adrenal mass. The last patient had a clinical diagnosis of Werner syndrome associated with the presence of a large left adrenal mass. All patients underwent scintigraphic studies using radiolabeled SAs, of which indium-111 (In-111) pentetreotide was used in 11 cases and technetium-99m (Tc-99m)-labeled peptides (P-587 or P-829) were used in the remaining four cases. No significant labeled SAs uptake was observed in the majority (8 of 10, 80%) of the benign adrenal lesions (Group 1); however, increased uptake was found in two benign pheochromocytomas. Conversely, significant labeled SAs uptake was observed in the majority (4 of 5, 80%) of the malignant adrenal lesions (Group 2); however, the last lesion (carcinoma) did not show abnormal uptake. Results of this study show that the majority of benign adrenal tumors do not concentrate radiolabeled SAs; conversely, the majority of malignant adrenal lesions show significant SAs uptake, suggesting the presence of somatostatin receptors. This finding may allow the use of somatostatin as a treatment agent in malignant adrenal tumors. Thus, the main role of labeled SAs in adrenal imaging consists of lesion characterization rather than tumor detection and localization

  5. Congenital intestinal lymphangiectasia

    Directory of Open Access Journals (Sweden)

    Popović Dušan Đ.

    2011-01-01

    Full Text Available Background. Congenital intestinal lymphangiectasia is a disease which leads to protein losing enteropathy. Tortous, dilated lymphatic vessels in the intestinal wall and mesenterium are typical features of the disease. Clinical manifestations include malabsorption, diarrhea, steatorrhea, edema and effusions. Specific diet and medication are required for disease control. Case report. A 19-year old male patient was hospitalized due to diarrhea, abdominal swelling, weariness and fatigue. Physical examination revealed growth impairment, ascites, and lymphedema of the right hand and forearm. Laboratory assessment indicated iron deficiency anaemia, lymphopenia, malabsorption, inflammatory syndrome, and urinary infection. Enteroscopy and video capsule endoscopy demonstrated dilated lymphatic vessels in the small intestine. The diagnosis was confirmed by intestinal biopsy. The patient was put on high-protein diet containing medium-chain fatty acids, somatotropin and suportive therapy. Conclusion. Congenital intestinal lymphangiectasia is a rare disease, usually diagnosed in childhood. Early recognition of the disease and adequate treatment can prevent development of various complications.

  6. Congenital diaphramatic hernia

    Energy Technology Data Exchange (ETDEWEB)

    Kline-Fath, Beth M. [Cincinnati Children' s Hospital Medical Center, Department of Radiology, Fetal Care Center of Cincinnati, Cincinnati, OH (United States); Cincinnati Children' s Hospital Medical Center, Department of Radiology, MLC 5031, Cincinnati, OH (United States)

    2012-01-15

    Congenital diaphragmatic hernia, despite advances in therapy, remains a complex condition with significant morbidity and mortality. The etiology of the disorder is still incompletely understood, though the pulmonary hypoplasia and pulmonary hypertension that develop secondarily must be overcome to improve survival. Prenatal US and fetal MRI have helped in the development of a greater understanding of this disease. Also with these modalities, measurement techniques have been developed in an attempt to provide prognosticators for the development of pulmonary hypoplasia and pulmonary hypertension. There is a broad range of approaches for performing these measurements, and variability among imaging centers is noted. Despite inconsistent approaches, these techniques have become the foundation for counseling and prenatal and postnatal therapy. It is hoped that with further research with prenatal US and fetal MRI and the development of innovative medical and surgical therapies that the morbidity and mortality of children with congenital diaphragmatic hernias can be significantly reduced. (orig.)

  7. Congenital imprinting disorders

    DEFF Research Database (Denmark)

    Eggermann, Thomas; Netchine, Irène; Temple, I Karen;

    2015-01-01

    consortium EUCID.net (European network of congenital imprinting disorders) now aims to promote better clinical care and scientific investigation of imprinting disorders by establishing a concerted multidisciplinary alliance of clinicians, researchers, patients and families. By encompassing all IDs and...... specific clinical features, and, as each appeared to be associated with specific imprinting defects, they have been widely regarded as separate entities. However, they share clinical characteristics and can show overlapping molecular alterations. Nevertheless, IDs are usually studied separately despite...

  8. Congenital Cleft Hand

    OpenAIRE

    Aritamur, Ayhan; Cakmak, Mehmet; Taser, Omer; Berk, Hasan

    2004-01-01

    Congenital cleft hand deformity, which is also known with such names as cleft hand, lobster claw hand and Ectrodactyiy, is characterized by the absence of one or two fingers in the mid portion of the hand. A case of bilateral cleft hand deformity four years old, which is considerabiy rare, was reconstructed surgically. The result obtained has been presented. Because no sufficient experience has accumulated due to the fact that it is observed considerably rare, the therapeutical principales re...

  9. Congenital Pulmonary Alveolar Proteinosis

    OpenAIRE

    Saber Hammami; Khaled Harrathi; Khaled Lajmi; Samir Hadded; Chebil Ben Meriem; Mohamed Néji Guédiche

    2013-01-01

    Pulmonary alveolar proteinosis (PAP) is a rare syndrome characterized by pulmonary surfactant accumulation within the alveolar spaces. It occurs with a reported prevalence of 0.1 per 100,000 individuals. Two clinically different pediatric types have been defined as congenital PAP which is fatal and a late-onset PAP which is similar to the adult form and less severe. The clinical course of PAP is variable, ranging from spontaneous remission to respiratory failure. Whole-lung lavage is the curr...

  10. Congenital Triangular Alopecia

    OpenAIRE

    Yin Li, Vincent Chum; Yesudian, Paul Devakar

    2015-01-01

    Congenital triangular alopecia (CTA) also known as temporal triangular alopecia is a benign noncicatricial pattern of hair loss. It typically affects the frontotemporal region and rarely involves the temporoparietal or occipital scalp. It is a nonprogressive disorder that presents as a triangular, oval or lancet-shaped patch of alopecia. CTA can manifest at birth or develop later in life. The exact etiology of this condition remains unknown. Rarely, it may be associated with other disorders s...

  11. Congenital ocular motor apraxia

    OpenAIRE

    Carrasquinho, S; Teixeira, S.; Cadete, A; Bernardo, M.; Pêgo, P; Prieto, I.

    2008-01-01

    PURPOSE: Congenital ocular motor apraxia is a rare disease characterized by defective or absent voluntary and optically induced horizontal saccadic movements. Jerky head movements or thrusts on attempted lateral gaze are a compensatory sign. Most affected children have delayed motor and speech development. Cases associated with systemic diseases, neurologic maldevelopment, metabolic deficits, and chromosomal abnormalities have been described. METHODS: Case report and review of the scienti...

  12. Congenital syphilis surveillance

    OpenAIRE

    Antonella Marangoni; Alessandra Moroni; Elisabetta Tridapalli; Maria Grazia Capretti; Antonietta D’Antuono; Marina Biagi; Sanzio Ruscello; Franca Savioli; Roberto Cevenini

    2011-01-01

    Congenital syphilis (CS) is mainly a consequence of the lack of antenatal care and control of sexually transmitted infections.The bedrock of the prevention of CS is syphilis diagnosis by serological screening during pregnancy.Current Italian guidelines suggest that all the pregnant women should be tested in the first trimester. Due to the frequently absence of specific signs of infection at birth, laboratory tests are often the only method for a correct CS diagnosis. The aim of this study was...

  13. Congenital nasal lipoma

    International Nuclear Information System (INIS)

    The authors describe a rare case of congenital lipoma of a nose and nasopharynx in a 7 months old girl. The tumor, about 7 x 2 cm was situated in the right nasal cavity and the nasopharynx. The tumor caused complete obstruction of the right side of the nose. After CT diagnosis the tumor was excised from intranasal approach. Histological examination disclosed lipoma. The duration of follow up was 10 months without any sight of recurrence. (author)

  14. Surgery for Congenital Cataract

    OpenAIRE

    David Yorston FRCS FRCOphth

    2004-01-01

    The management of congenital cataract is very different to the treatment of a routine age-related cataract. In adults, surgery may be delayed for years without affecting the visual outcome. In infants, if the cataract is not removed during the first year of life, the vision will never be fully regained after surgery. In adults, if the aphakia is not corrected immediately, it can be corrected later. In young children, if the aphakia is not corrected, the vision will never develop normally.

  15. Immunologic, hemodynamic, and adrenal incompetence in cirrhosis

    DEFF Research Database (Denmark)

    Risør, Louise Madeleine; Bendtsen, Flemming; Møller, Søren

    2015-01-01

    Acute kidney injury (AKI) is one of the most severe complications of cirrhosis and is associated with significant morbidity and mortality. Liver fibrosis and liver insufficiency, portal hypertension, systemic vasodilation, and a subsequent hyperdynamic circulation undermine the renal and cardiac...... function, making cirrhotic patients more susceptible to hemodynamic incidents. In addition, the immune system is impaired in cirrhosis, leading to an exaggerated production of vasoactive mediators, and the adrenal cortisol response is insufficient, which causes further impairment of the vascular tonus...... 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...

  16. Validity of computerized tomography in adrenal diseases

    International Nuclear Information System (INIS)

    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.)

  17. CONGENITAL DUODENAL OBSTRUCTIONS

    Directory of Open Access Journals (Sweden)

    S.G. Aprodu

    2005-07-01

    Full Text Available The purpose of this study is to analyze a cohort of 46 cases of congenital duodenal obstruction, operated on between 1996 and 2002, 23 of them being diagnosed in neonatal period. In one case, the diagnosis was made antenatally, by ultrasonography. There were 15 males and 8 females, 17 with duodenal atresia and 6 with duodenal diaphragmatic stenosis. Surgery was performed in all cases, consisting in lateral duodeno-duodenal anastomosis in 5 cases and "diamond-shape" duodeno-duodenal anastomosis in 18 cases. The survival rate in this study was 69.5%. 12 cases (52,1% had other congenital pathologies: trisomy 21 (6 cases, multiple ileal atresia (2 cases, dextrocardy (2 cases, omphalocel (1 case, situs inversus (1 case. The complications of surgery were: anastomotic leaking with peritonitis, biliary fistula, intestional adhesions with occlusion. Congenital duodenal obstruction (midgut volvulus, atresia, stenosis remains a challenging issue for pediatric surgeons, especially in our country, due to limited possibilities of quick diagnosis and treatment of associated anomalies.

  18. Adrenal scintigraphy using 131I-Adosterol

    International Nuclear Information System (INIS)

    131I-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 131I-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 131I-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.)

  19. Adrenal Wilms tumor: A case report

    International Nuclear Information System (INIS)

    Extra renal Wilms tumor is extremely rare. There have been only 50 cases described up to now. Its pathologenesis is contraversial and believed to arise from metanephrin remains or ectopic mesonephric structures. We reported a case of left adrenal gland Wilms tumor in a month-old girl. Ultrasound scan and TC radiological findings are described, the differential diagnosis being made with pediatric suprarenal tissue. The definitive diagnosis is always histological. (Author) 8 refs

  20. Teaching the Interrelationship between Stress, Emotions, and Cardiovascular Risk Using a Classic Paper by Walter Cannon

    Science.gov (United States)

    Gwirtz, Patricia A.

    2008-01-01

    Classroom discussion of the classic article by Walter B. Cannon in 1914, entitled "The emergency function of the adrenal medulla in pain and the major emotions," is an excellent tool to teach graduate students the interaction between stress, emotions, and cardiovascular function. Using this article, we are able to review important early research…

  1. Genitourinary MR: Kidneys and adrenal glands

    International Nuclear Information System (INIS)

    Due to its high tissue contrast and multiplanar imaging capabilites, MRI provides a detailed display of renal and adrenal anatomy. Recent technical developments overcoming the problem of respiration induced motion artifacts and the use of paramagnetic contrast agents have further improved the performance of MRI which has now evolved as an alternative or complementary imaging modality to ultrasound, excretory urography and computed tomography. Dynamic contrast-enhanced studies will usually allow to detect even small enhancing solid areas within the cyst wall. Use of a fast (turbo) spoiled gradient echo sequence allows for assessment of contrast enhancement dynamics in renal and adrenal masses. For tumor staging, the multiplanar imaging capabilities of MRI are advantageous. Perinephric extent is best detected using opposed-phase GRE images resulting in an artifical accentuation of renal contours. Extension into venous structures is best diagnosed by using a GRE sequence allowing for distinction between flowing blood and tumor thrombus. Noninvasive differentiation of adrenal lesions can be performed with an unprecedented accuracy using chemical-shift imaging. (orig.)

  2. The kidney, adrenal gland, and retroperitoneum

    International Nuclear Information System (INIS)

    Although its unparalleled tissue contrast resolution and multiplanar imaging capability, and the fact that it does not require exogeneous contrast agents, allow very detailed anatomic delineation of retroperitoneal anatomy in a safe and completely noninvasive fashion, magnetic resonance imaging (MRI) cannot at this time be used a screening procedure for evaluation of the adrenal glands and kidneys. At present, MRI remains time-consuming and expensive when compared with conventional X-ray computed tomography (X-ray CT), sonography, and quantitative scintigraphy. It is recommended, rather, that MRI can be reserved for situations in which its particular advantages can be expected to resolve questions raised by other imaging modalities. For example, MRI can be used t characterize an adrenal mass detected by CT, to evaluate extension of renal or adrenal neoplasms into adjacent organs when CT findings are equivocal, to assess vascular patency when intravenous contrast material is contraindicated or CT findings are equivocal, and to evaluate the cause of renal allograft failure when findings with other radiologic modalities are inconclusive and biopsy is medically contraindicated. Evaluation of the cause of ureteral obstruction and detection of calculi or lesional calcification are more reliably achieved with CT

  3. Symptomatic giant adrenal myelolipoma associated with cholelithiasis: Two case reports

    Directory of Open Access Journals (Sweden)

    Shahina Bano

    2012-01-01

    Full Text Available In this article, we have discussed about two cases of adrenal myelolipoma and aim to discuss the role of imaging in their diagnosis and their management. Different imaging techniques such as ultrasound, computed tomography and magnetic resonance imaging were used to aid in diagnosis in each of the cases. The findings have been highlighted here. In each of the cases, the diagnosis could be confirmed by imaging, and there was cholelithiasis seen associated with unilateral adrenal myelolipoma. Adrenal myelolipomas are rare, benign, non-functional tumors of adrenal gland. Most tumors are unilateral and small; bilateral, giant myelolipomas are extremely rare. The association of adrenal myelolipoma with gallstones is uncommon. To our knowledge only two cases of such an association have been reported in the literature. However, the possibility does exist and steps should be taken to ensure a complete diagnosis. Also, it is important to understand the key points which help us in diagnosing adrenal myelolipomas by imaging.

  4. A comparative study of the accuracy in locating adrenal lesions between CT, adrenal imaging and angiography

    International Nuclear Information System (INIS)

    This study was undertaken to compare the accuracy in locating adrenal lesions between CT, adrenocortical imaging and angiography in a total of 30 cases of adrenal diseases; 15 of primary aldosteronism, 8 of pheochromocytoma (9 tumors), 4 of Cushing's syndrome and 3 of adrenogenital syndrome. The correct localization was obtained in 90%(27/30) in CT, 94%(29/31) in adrenocortical imaging, 100%(15/15) by arteriography and 90%(18/20) in venography. However the locating accuracy decreased to 83%(15/18) in arteriography and 67%(18/27) in venography when the technically failed cases were included. These results suggest that CT and adrenocortical imaging are sufficient to detect adrenal lesions in most cases. Ambiguous cases in these noninvasive methods may be the subjects for angiography. (author)

  5. Computed tomography in the diagnosis of adrenal disease

    International Nuclear Information System (INIS)

    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)

  6. Extra-Adrenal Myelolipoma Presenting as Efferent Limb Obstruction

    OpenAIRE

    Alexandria Conley; Elizabeth Klein; Edhayan, E.; Richard Berri

    2012-01-01

    Myelolipomas are rare benign lesions composed of mature adipose tissue and immature hematopoetic cells. The adrenal gland is the most common location for these lesions, but cases of extra-adrenal myelolipomas have been described. The predominant location for extra-adrenal myelolipomas is the retroperitoneum, and very few reported cases describe these lesions in the peritoneal cavity. Typically these lesions are incidental findings and asymptomatic, but occasionally can present with symptoms s...

  7. Cavernous hemangioma of the adrenal gland: a case report

    Energy Technology Data Exchange (ETDEWEB)

    Park, Eui Dong; Cho, Jae Min; You, Jin Jong; Choi, Dae Seob; Ryoo, Jae Wook [Gyeongsang National University College of Medicine, Jinju (Korea, Republic of)

    2005-07-15

    Hemangiomas are rare benign tumors of the adrenal gland. We report here on the CT findings of a cavernous hemangioma of the right adrenal gland. The CT revealed a well-delineated adrenal mass having an internal necrotic portion and tiny peripheral calcifications. After administration of the contrast media, the tumor showed peripheral enhancement on the arterial phase, and this was followed by progressive centripetal fill-in.

  8. Idiopathic Spontaneous Adrenal Hemorrhage in the Third Trimester of Pregnancy

    Directory of Open Access Journals (Sweden)

    Narin Nasiroglu Imga

    2013-01-01

    Full Text Available Spontaneous adrenal hemorrhage (SAH is seen in the absence of trauma or adrenal tumor in adrenal glands. The incidence of SAH has been reported from 0.14% to 1.1% and it usually involves the right gland. During pregnancy, idiopathic unilateral SAH has been reported rarely. We present a case which comes to emergency department with an acute abdominal pain and the test results showed spontaneous left SAH.

  9. Idiopathic Spontaneous Adrenal Hemorrhage in the Third Trimester of Pregnancy

    OpenAIRE

    Narin Nasiroglu Imga; Yasemin Tutuncu; Mazhar Muslum Tuna; Berçem Ayçıçek Doğan; Dilek Berker; Serdar Guler

    2013-01-01

    Spontaneous adrenal hemorrhage (SAH) is seen in the absence of trauma or adrenal tumor in adrenal glands. The incidence of SAH has been reported from 0.14% to 1.1% and it usually involves the right gland. During pregnancy, idiopathic unilateral SAH has been reported rarely. We present a case which comes to emergency department with an acute abdominal pain and the test results showed spontaneous left SAH.

  10. Spontaneous Bilateral Adrenal Haemorrhage after Duodenopancreatectomy: a case report.

    Science.gov (United States)

    Guglielmo, N; Montalto, G M; Della Pietra, F; Garofalo, M; Mennini, G; Melandro, F; Berloco, P B

    2015-01-01

    it is difficult to diagnose because of its nonspecific presentation. This condition frequently occurs in association with an extreme physical stress and may lead to acute adrenal insufficiency or death if not promptly and properly treated. We report a rare case of acute bilateral adrenal hemorrhage with adrenal insufficiency following duodenopancreatectomy for ampulloma in absence of surgical complications. Early diagnosis and corticosteroid replacement with aggressive management of the precipitating pathology are essential to enable a successful outcome. PMID:25945442

  11. Curative surgical management of isolated adrenal recurrence of oesophageal adenocarcinoma.

    LENUS (Irish Health Repository)

    O'Sullivan, K E

    2013-01-01

    Adrenal metastases of oesophageal adenocarcinoma are rarely detected in the clinical setting, more frequently being found as an incidental postmortem finding in the presence of widespread metastases. With improvements in the sensitivity of radiological diagnostic modalities, the incidence of adrenal tumour detection is on the rise. We report herein a particularly rare case of primary operative management by adrenalectomy for an isolated right-sided adrenal metastasis secondary to oesophageal adenocarcinoma, with a long-term survival.

  12. Pheochromocytoma complicated by cyanotic congenital heart disease: a case report.

    Science.gov (United States)

    Yamamoto, Keiko; Namba, Noriyuki; Kubota, Takuo; Usui, Takeshi; Takahashi, Kunihiko; Kitaoka, Taichi; Fujiwara, Makoto; Hori, Yumiko; Kogaki, Shigetoyo; Oue, Takaharu; Morii, Eiichi; Ozono, Keiichi

    2016-04-01

    Coincidental cyanotic congenital heart disease and pheochromocytoma is uncommon, although some cases have been reported. We describe a girl aged 15 yr and 11 mo with pheochromocytoma and tricuspid atresia treated by performing the Fontan surgery. The patient did not have any specific symptoms of syndrome related to pheochromoytoma or a family history of pheochromocytoma. During cardiac catheterization, her blood pressure increased markedly, and an α-blocker was administered. Catecholamine hypersecretion was observed in the blood and urine, and abdominal computed tomography revealed a tumor in the right adrenal gland. Scintigraphy showed marked accumulation of (123)I-metaiodobenzylguanidine in the tumor, which led to a diagnosis of pheochromocytoma. We did not detect any germline mutations in the RET, VHL, SDHB, SDHD, TMEM127, or MAX genes. This patient had experienced mild systemic hypoxia since birth, which may have contributed to the development of pheochromocytoma. PMID:27212797

  13. Pheochromocytoma complicated by cyanotic congenital heart disease: a case report

    Science.gov (United States)

    Yamamoto, Keiko; Namba, Noriyuki; Kubota, Takuo; Usui, Takeshi; Takahashi, Kunihiko; Kitaoka, Taichi; Fujiwara, Makoto; Hori, Yumiko; Kogaki, Shigetoyo; Oue, Takaharu; Morii, Eiichi; Ozono, Keiichi

    2016-01-01

    Abstract. Coincidental cyanotic congenital heart disease and pheochromocytoma is uncommon, although some cases have been reported. We describe a girl aged 15 yr and 11 mo with pheochromocytoma and tricuspid atresia treated by performing the Fontan surgery. The patient did not have any specific symptoms of syndrome related to pheochromoytoma or a family history of pheochromocytoma. During cardiac catheterization, her blood pressure increased markedly, and an α-blocker was administered. Catecholamine hypersecretion was observed in the blood and urine, and abdominal computed tomography revealed a tumor in the right adrenal gland. Scintigraphy showed marked accumulation of 123I-metaiodobenzylguanidine in the tumor, which led to a diagnosis of pheochromocytoma. We did not detect any germline mutations in the RET, VHL, SDHB, SDHD, TMEM127, or MAX genes. This patient had experienced mild systemic hypoxia since birth, which may have contributed to the development of pheochromocytoma. PMID:27212797

  14. Differentiation of adrenal tumors in patients with hepatocellular carcinoma: Adrenal adenoma versus metastasis

    International Nuclear Information System (INIS)

    Objective: To investigate whether computed tomography (CT) attenuation test for differential diagnosis of adrenal nodule is applicable in patients with hepatocellular carcinoma (HCC) which shows similar image characteristics to adrenal adenoma. Materials and methods: This retrospective study was approved by our institutional review board, and the requirement for informed consent from study patients was waived. Searching picture archiving and communication system, we identified 3678 patients with HCC who underwent upper abdominal unenhanced CT scans between April 2002 and March 2010, and 114 adrenal nodules (39 adenomas and 75 metastases) were included for analysis. Ten nodules were confirmed pathologically while 104 had imaging diagnosis (enlarged or emerged during the study period). Size, CT number, and the internal characteristics of the lesions were recorded. Results: Mean CT numbers of adrenal adenomas were significantly lower than those of metastases (P < 0.0001, t-test) on unenhanced CT. Thresholds of 17 and 33 Hounsfield units (HU) provided the following sensitivity, specificity, and accuracy: 46.2%, 100%, and 81.6% at 17 HU, and 94.9%, 89.3%, and 91.2% at 33 HU, respectively. The area under receiver operating characteristic curve for the CT number test was 0.96. Metastases were significantly larger than adrenal adenoma (P = 0.009, t-test). However, the accuracy of testing using mass size was 64.0% at most. All adenomas and metastases were depicted as homogeneous masses with the exception of two metastases that presented as heterogeneous masses (necrotic or lipomatous). Conclusion: Adrenal adenomas can be differentiated from HCC metastases using CT number on unenhanced CT

  15. Differentiation of adrenal tumors in patients with hepatocellular carcinoma: Adrenal adenoma versus metastasis

    Energy Technology Data Exchange (ETDEWEB)

    Yasaka, Koichiro, E-mail: koyasaka@gmail.com [Department of Radiology, Graduate School of Medicine, The University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo 113-8655 (Japan); Gonoi, Wataru; Akai, Hiroyuki; Katsura, Masaki; Akahane, Masaaki [Department of Radiology, Graduate School of Medicine, The University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo 113-8655 (Japan); Kiryu, Shigeru [Department of Radiology, The Institute of Medical Science, The University of Tokyo, 4-6-1 Shirokanedai, Minato-ku, Tokyo 108-8639 (Japan); Ohtomo, Kuni [Department of Radiology, Graduate School of Medicine, The University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo 113-8655 (Japan)

    2013-08-15

    Objective: To investigate whether computed tomography (CT) attenuation test for differential diagnosis of adrenal nodule is applicable in patients with hepatocellular carcinoma (HCC) which shows similar image characteristics to adrenal adenoma. Materials and methods: This retrospective study was approved by our institutional review board, and the requirement for informed consent from study patients was waived. Searching picture archiving and communication system, we identified 3678 patients with HCC who underwent upper abdominal unenhanced CT scans between April 2002 and March 2010, and 114 adrenal nodules (39 adenomas and 75 metastases) were included for analysis. Ten nodules were confirmed pathologically while 104 had imaging diagnosis (enlarged or emerged during the study period). Size, CT number, and the internal characteristics of the lesions were recorded. Results: Mean CT numbers of adrenal adenomas were significantly lower than those of metastases (P < 0.0001, t-test) on unenhanced CT. Thresholds of 17 and 33 Hounsfield units (HU) provided the following sensitivity, specificity, and accuracy: 46.2%, 100%, and 81.6% at 17 HU, and 94.9%, 89.3%, and 91.2% at 33 HU, respectively. The area under receiver operating characteristic curve for the CT number test was 0.96. Metastases were significantly larger than adrenal adenoma (P = 0.009, t-test). However, the accuracy of testing using mass size was 64.0% at most. All adenomas and metastases were depicted as homogeneous masses with the exception of two metastases that presented as heterogeneous masses (necrotic or lipomatous). Conclusion: Adrenal adenomas can be differentiated from HCC metastases using CT number on unenhanced CT.

  16. Genetics Home Reference: critical congenital heart disease

    Science.gov (United States)

    ... Home Health Conditions critical congenital heart disease critical congenital heart disease Enable Javascript to view the expand/collapse boxes. Print All Open All Close All Description Critical congenital heart disease (CCHD) is a term that refers to a ...

  17. Genetics Home Reference: congenital hepatic fibrosis

    Science.gov (United States)

    ... Home Health Conditions congenital hepatic fibrosis congenital hepatic fibrosis Enable Javascript to view the expand/collapse boxes. ... All Open All Close All Description Congenital hepatic fibrosis is a disease of the liver that is ...

  18. Genetics Home Reference: congenital leptin deficiency

    Science.gov (United States)

    ... Genetics Home Health Conditions congenital leptin deficiency congenital leptin deficiency Enable Javascript to view the expand/collapse ... Print All Open All Close All Description Congenital leptin deficiency is a condition that causes severe obesity ...

  19. Genetics Home Reference: Fukuyama congenital muscular dystrophy

    Science.gov (United States)

    ... Health Conditions Fukuyama congenital muscular dystrophy Fukuyama congenital muscular dystrophy Enable Javascript to view the expand/collapse boxes. ... All Open All Close All Description Fukuyama congenital muscular dystrophy is an inherited condition that predominantly affects the ...

  20. Genetics Home Reference: severe congenital neutropenia

    Science.gov (United States)

    ... Home Health Conditions severe congenital neutropenia severe congenital neutropenia Enable Javascript to view the expand/collapse boxes. ... PDF Open All Close All Description Severe congenital neutropenia is a condition that causes affected individuals to ...

  1. Addison's disease with adrenal enlargement on sonography and computed toimography

    International Nuclear Information System (INIS)

    One of the major causes of chronic adrenal insufficiency (Addison's disease) is tuberculous adrenalopathy. Since sonography and computed tomography have become generally available in recent years and are of potential help in the diagnosis of this disease the merits of these methods are discussed in the light of 2 cases of adrenal tuberculosis, followed by a review of the literature. Adrenal calcification is the most significant, although not specific sign of adrenal insufficiency due to tuberculosis. Computed tomography has proven to be the method of choice in the non-invasive diagnosis of tuberculous adrenalopathy and in the monitoring of tuberculostatic treatment in this disease. Sonography is helpful as a preliminary investigation. (Author)

  2. Molecular and Genetic Studies of Congenital Myopathies

    Science.gov (United States)

    2015-10-26

    Central Core Disease; Centronuclear Myopathy; Congenital Fiber Type Disproportion; Multiminicore Disease; Myotubular Myopathy; Nemaline Myopathy; Rigid Spine Muscular Dystrophy; Undefined Congenital Myopathy

  3. 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.

  4. Are traumatic bilateral adrenal injuries associated with higher morbidity and mortality?-A prospective observational study

    OpenAIRE

    Panda, Ananya; Kumar, Atin; Gamanagatti, Shivanand; Bhalla, Ashu Seith; Sharma, Raju; Kumar, Subodh; Mishra, Biplab

    2015-01-01

    Background Traumatic bilateral adrenal injuries are uncommon. Adrenal injuries are overall associated with worse outcome than non-adrenal injuries. However, direct comparative evidence between unilateral and bilateral adrenal injuries is unavailable in literature. This study aims to investigate clinical significance of bilateral adrenal hematomas in terms of injury severity, morbidity and mortality. Methods All blunt trauma abdomen patients with adrenal gland involvement on initial CECT scans...

  5. Cushing’s Syndrome During Pregnancy Secondary to Adrenal Adenoma

    Directory of Open Access Journals (Sweden)

    Fateme Mostaan

    2012-01-01

    Full Text Available Pregnancy rarely occurs in untreated cases of Cushing's syndrome (CS , because most of them are infertile due to significant maternal and fetal complications during pregnancy. Diagnosis of CS may be difficult during pregnancy. Since physiological changes of pregnancy are overlapped by classical presentation and biological confirmation of CS. Therefore the high clinical suspicious is needed for diagnosis. We present a 33 years old pregnant woman with a history of chronic hypertension from 10 years ago that referred to Imam Khomeini hospital for uncontrolled hypertension, gestational diabetes and fetal tachycardia at the 30 weeks of gestation. After initial studies abdominal MRI detected a 43 x 35 x 29 mm right adrenal mass. She was treated by anti-hypertensive drugs. But at 31.5 weeks of gestational age cesarean section was performed due to sever preeclampsia. Then two weeks after delivery open right adrenalectomy was carried out without any complications and in the histopathological evaluation benign adrenocortical adenoma was reported. CS is associated with considerable fetal and maternal morbidity and mortality. Selection of treatment method is variable and it depends on gestational age. Medical and surgical approaches have been used in managing CS in pregnancy. Surgical treatment is the first choice for CS which is recommended at the second trimester and in the late pregnancy medical treatment is preferred.

  6. What classicality? Decoherence and Bohr's classical concepts

    CERN Document Server

    Schlosshauer, Maximilian

    2010-01-01

    Niels Bohr famously insisted on the indispensability of what he termed "classical concepts." In the context of the decoherence program, on the other hand, it has become fashionable to talk about the "dynamical emergence of classicality" from the quantum formalism alone. Does this mean that decoherence challenges Bohr's dictum and signifies a break with the Copenhagen interpretation-for example, that classical concepts do not need to be assumed but can be derived? In this paper we'll try to shine some light down the murky waters where formalism and philosophy cohabitate. To begin, we'll clarify the notion of classicality in the decoherence description. We'll then discuss Bohr's and Heisenberg's take on the quantum-classical problem and reflect on different meanings of the terms "classicality" and "classical concepts" in the writings of Bohr and his followers. This analysis will allow us to put forward some tentative suggestions for how we may better understand the relation between decoherence-induced classical...

  7. Comparison of adrenal FDG uptake among normal healthy subjects and lung cancer patients with/without adrenal metastasis

    International Nuclear Information System (INIS)

    The aim of this study was to evaluate the adrenal FDG uptake in patients with lung cancer, and to assess the diagnostic performance. The aim of this study was to evaluate the adrenal FDG uptake in patients with lung cancer, and to assess the diagnostic performance of FDG PET in detecting adrenal metastasis. A total of 117 healthy subjects who underwent FDG PET/CT for cancer screening (M: F=74: 43, 50.011.3 yr) and 171 lung cancer patients who underwent FDG PET/CT for staging (M: F = 104: 67, age; 61.8 10.4 yr) were. The diagnosis of adrenal metastasis was confirmed by histology or radiologic follow-up. Maximal SUV of healthy subjects were 1.66 0.21 and 1.86 0.30 in right and left adrenal gland, and 2.77 0.37 in the liver. However, lung cancer patients had maximal SUV of 1.68 0.47, 1.64 0.39, and 2.15 0.49, respectively. SUV of liver was higher in healthy subjects group (p < 0.001). The ratio of adrenal gland to liver (AL ratio) in lung cancer were higher than that of normal subjects (0.61 0.10 vs. 0.78 0.14 in right adrenal gland, 0.68 0.12 vs. 0.78 0.14 in left adrenal gland; both of them: p < 0.001). From 24 adrenal masses of 22 lung cancer patients, 15 adrenal masses were proven as adrenal metastasis and the others were diagnosed as adrenal adenoma. We defined normal value of adrenal gland as mean + 2SD. The maximal SUV and AL ratio of lung cancer patients were 2.52 and 1.06, respectively. Both of them had a same sensitivity (86.7%) and specificity (88.9%). With ROC curves analysis, cut-off value of maxSUV and AL ratio on adrenal mass were 3.55 (area under curve = 0.900) and 1.21(area = 0.852). Sensitivity and specificity of maxSUV were 86.7% and 100% and AL ratio were 80.0% and 88.9%. Lung cancer patients had elevated adrenal FDG uptake than that of normal healthy subjects. Adrenal mass with maximal SUV over 3.55 could be considered as metastatic lesion in lung cancer patients

  8. Comparison of adrenal FDG uptake among normal healthy subjects and lung cancer patients with/without adrenal metastasis

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Bom Sahn; Kang, Won Jun; Lee, Dong Soo; Chung, June Key; Lee, Myung Chul [Seoul National Univ. College of Medicine, Seoul (Korea, Republic of)

    2007-07-01

    The aim of this study was to evaluate the adrenal FDG uptake in patients with lung cancer, and to assess the diagnostic performance. The aim of this study was to evaluate the adrenal FDG uptake in patients with lung cancer, and to assess the diagnostic performance of FDG PET in detecting adrenal metastasis. A total of 117 healthy subjects who underwent FDG PET/CT for cancer screening (M: F=74: 43, 50.011.3 yr) and 171 lung cancer patients who underwent FDG PET/CT for staging (M: F = 104: 67, age; 61.8 10.4 yr) were. The diagnosis of adrenal metastasis was confirmed by histology or radiologic follow-up. Maximal SUV of healthy subjects were 1.66 0.21 and 1.86 0.30 in right and left adrenal gland, and 2.77 0.37 in the liver. However, lung cancer patients had maximal SUV of 1.68 0.47, 1.64 0.39, and 2.15 0.49, respectively. SUV of liver was higher in healthy subjects group (p < 0.001). The ratio of adrenal gland to liver (AL ratio) in lung cancer were higher than that of normal subjects (0.61 0.10 vs. 0.78 0.14 in right adrenal gland, 0.68 0.12 vs. 0.78 0.14 in left adrenal gland; both of them: p < 0.001). From 24 adrenal masses of 22 lung cancer patients, 15 adrenal masses were proven as adrenal metastasis and the others were diagnosed as adrenal adenoma. We defined normal value of adrenal gland as mean + 2SD. The maximal SUV and AL ratio of lung cancer patients were 2.52 and 1.06, respectively. Both of them had a same sensitivity (86.7%) and specificity (88.9%). With ROC curves analysis, cut-off value of maxSUV and AL ratio on adrenal mass were 3.55 (area under curve = 0.900) and 1.21(area = 0.852). Sensitivity and specificity of maxSUV were 86.7% and 100% and AL ratio were 80.0% and 88.9%. Lung cancer patients had elevated adrenal FDG uptake than that of normal healthy subjects. Adrenal mass with maximal SUV over 3.55 could be considered as metastatic lesion in lung cancer patients.

  9. Prevalence of Congenital Malformations

    Directory of Open Access Journals (Sweden)

    Akhavan Karbasi Sedighah

    2009-05-01

    Full Text Available Congenital malformation (CM will begin to emerge as one of the major childhood health problems .Treatment and rehabilitation of children with congenital malformations are costly and complete recovery is usually impossible. The aim of this study was to determine frequency of CM in Yazd central city of the Islamic Republic of Iran to find out if there has been any difference in the rate and types of CM in this area. This descriptive-observational study carried on 4800 births delivered at all maternity hospitals in Yazd from October 2003 to June 2004. Prevalence of CM was 2.83% (2.86 % in male and 2.68 % in female out of the 136 cases 69(51.88% were males and 64 (48.12% were females and 3 with ambiguous genitalia. Positive family history of CM in sibling was in only 6 cases (4.41%.Overall, musculoskeletal (0.83%, central nerv-ous system (0.47% and genital system (0.37% were accounted as the most common. Frequency of CM was more seen in still birth (12.5% as in comparison to live birth (2.71%. There was not statistical difference be-tween prevalence of CM and neonatal's gender, gestational age, birth order and mother's age, drug ingestion, illness and parental consanguinity. In this study the overall prevalence of congenital malformation among the newborn was higher than those previous reported in Iran and determining the causes of this difference needs more extensive studies.

  10. Congenital Midureteric Stricture

    Directory of Open Access Journals (Sweden)

    Singh Shalinder

    2001-01-01

    Full Text Available Congenital midureteric obstruction is a rare entity which can be caused by either ureteric valves or strictures. We report our experience with four patients with midureteric obstruction due to stricture over a six-year period. The condition needs to be differentiated from obstruction of the pelviureteric and vesicoureteric junctions. Obstruction can be initially screened by ultrasound and confirmed by a radionuclide scan with furosemide challenge. Retrograde ureteropyelography and/or intravenous urography may be required to define the level of the stricture.

  11. Congenital acute megakaryocytic leukemia

    Directory of Open Access Journals (Sweden)

    N B Mathur

    2011-01-01

    Full Text Available Congenital leukemia (CL is an extremely rare disorder in the newborn, significant proportion of which is of myeloid origin, primarily of M4 or M5 morphology. As compared to pediatric leukemia, CL is a more aggressive disease. Acute myeloid leukemia (AML-M7 or acute megakaryocytic leukemia is a rare type of AML with an incidence of 0.5 per million per year. Median age of presentation is 6 years, and children may present with a broad variety of symptoms including low-grade fever, diarrhea, easy bruising, failure to gain weight and life-threatening conditions.

  12. Congenital anterior urethral diverticulum.

    Science.gov (United States)

    Singh, Sanjeet Kumar; Ansari, Ms

    2014-09-01

    Congenital anterior urethral diverticulum (CAUD) may be found all along the anterior urethra and may present itself at any age, from infant to adult. Most children with this condition present with difficulty in initiating micturition, dribbling of urine, poor urinary stream, or urinary tract infection. A careful history will reveal that these children never had a good urinary stream since birth, and the telltale sign is a cystic swelling of the penile urethra. In this paper, we present two cases of CAUD that were managed by excision of the diverticulum with primary repair. PMID:26328174

  13. Congenital nephrotic syndrome.

    Science.gov (United States)

    Begolli, Mirije; Begolli, Ilir; Gojani, Xhenane; Arenliu-Qosaj, Fatime; Berisha, Merita

    2011-01-01

    The aim of this case is to present a case of a two month old female with congenital nephritic syndrome, which is very rare. On admission, the baby showed marked edema and distended abdomen. She was diagnosed and treated with daily albumin infusions, antibiotics, diuretic, gamma globulin replacement, ACEI and NSAIDs. Parents were informed about the nature of the disease, prognosis, and advised for further medical care in a more advanced kidney transplantation centre. This was the first treatment of this condition in the Pediatric Clinic in Kosovo and it presented a challenge for us. PMID:22299306

  14. Computed tomography findings in diseases of the adrenal gland

    International Nuclear Information System (INIS)

    The adrenal gland is a common site of disease, with an abnormality prevalence as high as 9% in autopsy series. With the increasing use of CT, adrenal lesions are frequently found in the daily practice of radiology and are diagnosed in up to 5% of CT examinations performed for varied reasons. Imaging features on CT can establish a specific diagnosis of many of these lesions, including myelolipoma, hematoma and cysts. Once a diagnostic dilemma, now adenomas can be accurately diagnosed using unenhanced CT, chemical shift magnetic resonance imaging and CT contrast washout analysis. Because the adrenal gland is also a frequent site of metastasis, recent literature has focused on imaging characterization of adrenal masses for differentiation of adenomas from metastases. In patients without known malignancy, most adrenal lesions are benign and a specific diagnosis can now be made on the basis of imaging features. It is important to understand the prevalence of adrenal abnormalities because the gland is a common site of disorders, and the increased use of cross-sectional imaging has increased the frequency of detection of adrenal lesions. The prevalence of disease is important in predicting the risk of malignancy when an adrenal mass is discovered in a patient without known cancer. Detection of adrenal gland diseases has increased substantially with the advent and widespread use of imaging techniques. Although several imaging modalities can be used, CT has a central role in both detection and differential diagnosis of an adrenal lesion. The aim of this article is to review the CT findings of adrenal gland diseases. (author)

  15. MDCT Findings of Traumatic Adrenal Injury in Children

    Energy Technology Data Exchange (ETDEWEB)

    Choi, Seung Joon; Kim, Jee Eun; Ryu, Il; Kim, Jin Joo; Choi, Hye Young [Gachon University of Medicine and Science, Gil Medical Center, Incheon (Korea, Republic of)

    2011-02-15

    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%)

  16. Mineralocorticoid replacement during infancy for salt wasting congenital adrenal hyperplasia due to 21-hydroxylase deficiency

    OpenAIRE

    Gomes, Larissa G.; Guiomar Madureira; Berenice B. Mendonca; Bachega, Tania A. S. S.

    2013-01-01

    OBJECTIVE: The protocols for glucocorticoid replacement in children with salt wasting 21-hydroxylase deficiency are well established; however, the current recommendation for mineralocorticoid replacement is general and suggests individualized dose adjustments. This study aims to retrospectively review the 9-∝-fludrocortisone dose regimen in salt wasting 21-hydroxylase deficient children who have been adequately treated during infancy. METHODS: Twenty-three salt wasting 21-hydroxylase de...

  17. 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.

  18. 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...

  19. Gender Dysphoria in a 62-Year-Old Genetic Female With Congenital Adrenal Hyperplasia.

    Science.gov (United States)

    Silveira, Mariana Telles; Knobloch, Felícia; Silva Janovsky, Carolina C P; Kater, Claudio E

    2016-10-01

    We report a case of gender dysphoria (GD) in a 62-year-old genetic female patient, raising the pros and cons of performing corrective surgery later in life. This 46,XX DSD patient was registered and reared as a girl; CAH was diagnosed late in childhood. Poor adherence to treatment and lack of proper psychological management contributed to evident GD. Living for years as a male, the patient applied for a legitimate male identification document in his late 50s; thereafter, he requested a sex-reassignment surgery "to disguise his female body upon his death." We informed the patient and family about surgery hazards, while analytical therapy allowed the group to evaluate the actual wish for surgery. When the wish was brought up, the role of death urged the group to rethink the course of treatment. During the process, it became clear that the patient's desire for surgery, more than a wish for changing the genitalia, expressed an impulse related to issues of endorsement and acceptance of his male identity. This report raises interesting questions about sexuality in a social context and prompts the idea that sexuality is broader than sex itself, raising new questions on the psychological risks faced when considering a body change after years of living with a disorder of sex development. PMID:27270635

  20. Long-Term Gynecological Outcomes in Women with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency.

    Science.gov (United States)

    Johannsen, T H; Ripa, C P L; Carlsen, E; Starup, J; Nielsen, O H; Schwartz, M; Drzewiecki, K T; Mortensen, E L; Main, K M

    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, and surgery. Results. Patients had larger median clitoral lengths (10.0 mm [range 2-30] versus 3.5 [2-8], P 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). Conclusion. Despite overall acceptable cosmetic results, reproductive outcomes were suboptimal, supporting that multidisciplinary teams should be involved in adult follow up of CAH patients. PMID:20981283

  1. 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

    .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......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, and...

  2. Long-Term Gynecological Outcomes in Women with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency

    OpenAIRE

    Johannsen, T. H.; Ripa, C. P. L.; Carlsen, E; Starup, J.; Nielsen, O. H.; Schwartz, M.; Drzewiecki, K. T.; Mortensen, E. L.; Main, K. M.

    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, and surgery. Results. Patients had larger median clitoral lengths (10.0 mm [range 2–30] versus 3.5 [2–8], P < .001), shorter vaginal length (121 mm [100–155] versus 128 [112–153], P = .12), lower uteri...

  3. Long-Term Gynecological Outcomes in Women with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency

    OpenAIRE

    Drzewiecki; Schwartz M; Nielsen OH; Starup J; Carlsen E; Ripa CPL; Johannsen TH; Mortensen EL; Main KM

    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, and surgery. Results. Patients had larger median clitoral lengths (10.0 mm [range 2–30] versus 3.5 [2–8], ), shorter vaginal length (121 mm [100–155] versus 128 [112–153], ), lower uterine volumes (29...

  4. Long-Term Gynecological Outcomes in Women with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency

    Directory of Open Access Journals (Sweden)

    Drzewiecki

    2010-08-01

    Full Text Available 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, and surgery. Results. Patients had larger median clitoral lengths (10.0 mm [range 2–30] versus 3.5 [2–8], , shorter vaginal length (121 mm [100–155] versus 128 [112–153], , lower uterine volumes (29.1 ml [7.5–56.7] versus 47.4 [15.9–177.5], , and higher ovarian volumes (4.4 ml [1.3–10.8] versus 2.8 [0.6–10.8], than controls. Satisfaction with genital appearance was lower and negatively correlated to degree of initial virilisation (. More patients had never had intercourse (, and age at 1st intercourse was higher (18 yrs versus 16 yrs, . Conclusion. Despite overall acceptable cosmetic results, reproductive outcomes were suboptimal, supporting that multidisciplinary teams should be involved in adult follow up of CAH patients.

  5. Congenital Adrenal Hyperplasia Complicated by Central Precocious Puberty – clinical case

    OpenAIRE

    Bandeira, A; Cardoso, H; Borges, T.

    2006-01-01

    RESUMO Algumas crianças com hiperplasia da supra-renal com instituição tardia da terapêutica e/ou má aderência ao tratamento desenvolvem puberdade precoce central por maturação precoce do eixo hipotálamo-hipófise. Os autores apresentam um caso clínico de uma criança, do sexo masculino, com 5 anos e 9 meses de idade, que é referenciada à consulta por pubarca precoce. O estudo efectuado revelou tratarse de uma hiperplasia da supra-renal, forma não clássica, p...

  6. Imaging procedures in adrenal pathology Procedimentos de imagem na patologia adrenal

    Directory of Open Access Journals (Sweden)

    Suzan M. Goldman

    2004-10-01

    Full Text Available Imaging plays a vital role in the evaluation of adrenal pathology. The most widely used modalities are computed tomography and magnetic resonance imaging. Alone or in conjunction with appropriate clinical and biochemical data, imaging can provide specific diagnoses that preclude the need for tissue sampling. This article reviews imaging features of normal and diseased adrenals, from both benign and malignant causes.Procedimentos de imagem têm um papel vital na avaliação da patologia adrenal. As modalidades mais amplamente empregadas são a tomografia computadorizada e a imagem por ressonância magnética. Isoladas ou em combinação com dados clínicos e bioquímicos apropriados, a imagem pode prover diagnósticos específicos que dispensam a necessidade de amostras de tecido por biopsia. Este artigo revisa os achados de imagem da adrenal normal e patológica, incluindo tanto causas benignas como malignas.

  7. Congenital nystagmus and negative electroretinography

    Directory of Open Access Journals (Sweden)

    Roussi M

    2011-04-01

    Full Text Available Mirella Roussi, Hélène Dalens, Jean Jacques Marcellier, Franck BacinDepartment of Ophthalmology, Clermont-Ferrand University, Clermont-Ferrand, FranceAbstract: Congenital nystagmus is a pathologic oculomotor state appearing at about three to four months of age. The precise diagnosis requires detailed clinical examination and electrophysiological findings. This case report presents two male patients with congenital nystagmus examined longitudinally from the age of six months until 17-18 years of age. Clinical and electrophysiological protocols were detailed. The first results showed electronegative electroretinography in the two cases and examination combined with electroretinographic findings helped us to make the diagnosis of Congenital Night Stationary Blindness (CSNB. This diagnosis was confirmed by genetic studies. CSNB is interesting to study because through electrophysiological findings, it enables a better understanding of the physiology of neural transmission in the outer part of the retina.Keywords: Congenital nystagmus, negative electroretinography, congenital night stationary blindness

  8. Congenital Leukemia in Down's syndrome

    International Nuclear Information System (INIS)

    Congenital Leukemia is a condition and often associated with fatal outcome/sup 1/. Most of the neonatal cases reported have acute non-lymphoblastic leukemia, in contrast to the predominance of acute lymphoblastic leukemia found in later childhood. congenital leukemia is occasionally associated with number of congenital anomalies and with chromosomal disorders such as Down's syndrome. Subtle cytogenetic abnormalities may occur more commonly in the affected infants and their parents, when studied with newer cytogenetic techniques/sup 2/. Inherent unstable hematopoieses resulting from chromosomal aberration in children with Downs's syndrome can present with transient myeloproliferative disorder, mimicking leukemia which undergoes spontaneous recovery/sup 3/. Only few cases of congenital leukemia with Downs syndrome, presented as congenital leukemia. (author)

  9. Adrenal Metastasis from Uterine Papillary Serous Carcinoma.

    Science.gov (United States)

    Singh Lubana, Sandeep; Singh, Navdeep; Tuli, Sandeep S; Seligman, Barbara

    2016-01-01

    BACKGROUND Uterine papillary serous carcinoma (UPSC) is a highly malignant form of endometrial cancer with a high propensity for metastases and recurrences even when there is minimal or no myometrial invasion. It usually metastasizes to the pelvis, retroperitoneal lymph nodes, upper abdomen, and peritoneum. However, adrenal metastases from UPSC is extremely rare. Here, we present a case of UPSC with adrenal metastasis that occurred 6 years after the initial diagnosis. CASE REPORT A 60-year-old woman previously diagnosed with uterine papillary serous carcinoma at an outside facility presented in September of 2006 with postmenopausal bleeding. She underwent comprehensive surgical staging with FIGO (International Federation of Gynecology and Obstetrics) stage 2. Post-operatively, the patient was treated with radiation and chemotherapy. The treatment was completed in April of 2007. The patient had no evidence of disease until July 2009 when she was found to have a mass highly suspicious for malignancy. Subsequently, she underwent right upper lobectomy. The morphology of the carcinoma was consistent with UPSC. She refused chemotherapy due to a previous history of chemotherapy-induced neuropathy. The patient was followed up with regular computed tomography (CT) scans. In October 2012 a new right adrenal nodule was seen on CT, which showed intense metabolic uptake on positron emission tomography (PET)/CT scan. The patient underwent right adrenalectomy. Pathology of the surgical specimen was consistent with UPSC. CONCLUSIONS UPSC is an aggressive variant of endometrial cancer associated with high recurrence rate and poor prognoses. Long-term follow-up is needed because there is a possibility of late metastases, as in this case. PMID:27117594

  10. [Congenital defects and incapacity].

    Science.gov (United States)

    Jouve de la Barreda, Nicolás

    2009-01-01

    As a whole the congenital defects constitute an important section of the medical attention affecting near 3% of the population. A 15% of spontaneous abortions take place of which the greater frequency corresponds to the chromosome anomalies (25%) and the monogenic mutations (20%) and in a lesser extent to the effects of teratogenic agents. Between the genetic causes determining the congenital defects the mutations that affect genes acting in the early stages of development occupy a main place. These alterations can affect to homeotic genes or monogenic systems that act during the critical phases of the organogenesis. It seems evident that an alteration in the expression of a necessary gene for the appearance of a morphogenetic change constitutes the angular stone to understand resurging of a malformation or discapacity. In the last years has been demonstrated the importance of the teratogenic or environmental agents on the delicate internal physiological balance during the critical stages of the development. In this context must be included the inductive environmental factors inducing epigenetic modifications in the early stage of the development of the embryos produced by fertilization in vitro. PMID:19799481

  11. Congenital fiber type disproportion.

    Science.gov (United States)

    Kissiedu, Juliana; Prayson, Richard A

    2016-04-01

    Type I muscle fiber atrophy in childhood can be encountered in a variety of neuromuscular disorders. Congenital fiber type disproportion (CFTD) is one such condition which presents as a nonprogressive muscle weakness. The diagnosis is often made after excluding other differential diagnostic considerations. We present a 2-year-9-month-old full term boy who presented at 2 months with an inability to turn his head to the right. Over the next couple of years, he showed signs of muscle weakness, broad based gait and a positive Gower's sign. He had normal levels of creatine kinase and normal electromyography. A biopsy of the vastus lateralis showed a marked variation in muscle fiber type. The adenosine triphosphate (ATP)-ase stains highlighted a marked type I muscle atrophy with rare scattered atrophic type II muscle fibers. No abnormalities were observed on the nicotinamide adenine dinucleotide (NADH), succinate dehydrogenase (SDH) or cytochrome oxidase stained sections. Ragged red fibers were not present on the trichrome stain. Abnormalities of glycogen or lipid deposition were not observed on the periodic acid-Schiff or Oil-Red-O stains. Immunostaining for muscular dystrophy associated proteins showed normal staining. Ultrastructural examination showed a normal arrangement of myofilaments, and a normal number and morphology for mitochondria. A diagnosis of CFTD was made after excluding other causes of type I atrophy including congenital myopathy. The lack of specific clinical and genetic disorder associated with CFTD suggests that it is a spectrum of a disease process and represents a diagnosis of exclusion. PMID:26526626

  12. [Congenital multiple arthrogryposis].

    Science.gov (United States)

    Parsch, Klaus; Pietrzak, Szymon

    2007-03-01

    From 1975 to 2004 a total of 38 children handicapped by congenital multiple arthrogryposis were cared for. The congenital joint contractures demand a major effort in terms of surgical reconstruction. In the case of distal arthrogryposis the chances that patients will be able to walk without help are good, while those with amyoplasia are likely to be dependent on mobility aids throughout their lives. The ultimate goal of treatment for patients is to develop into self-confident adults who can cope with life despite their handicaps. The hip in arthrogryposis shows variable forms of pathology, ranging from the almost normal hip to hip contractures with dislocation. Its treatment has some limited advantages, but hardly improves mobility. The knee contractures are actively treated to allow patients to sit, stand and walk better. The club foot and the rocker-bottom foot need sophisticated conservative and operative treatments. If conservative manipulation of bilateral extension contractures of the elbow fails operative treatment is carried out on the dominant side. For shoulder, hand and finger contractures conservative manipulation brings about little improvement, and surgical approaches help hardly at all. PMID:17323063

  13. Congenital nephrotic syndrome

    Directory of Open Access Journals (Sweden)

    Claudia Fanni

    2014-06-01

    Full Text Available CNS (Congenital nephrotic syndrome is a disorder characterized by the presence of a nephrotic syndrome in the first three months of life. Different pathologies can cause this syndrome. In general, we can distinguish primary forms (sporadic and hereditary and secondary forms (acquired and associated with other syndromes. The most common form is the Finnish CNS (CNF, congenital nephrotic syndrome of the Finnish type, a hereditary form whose name derives from the fact that the highest incidence is described in that country (1.2:10,000. The pathogenesis, the clinical picture, the diagnostic criteria, the therapy and the outcome are described in details.  Proceedings of the International Course on Perinatal Pathology (part of the 10th International Workshop on Neonatology · October 22nd-25th, 2014 · Cagliari (Italy · October 25th, 2014 · The role of the clinical pathological dialogue in problem solving Guest Editors: Gavino Faa, Vassilios Fanos, Peter Van Eyken

  14. Congenital extrahepatic portosystemic shunts

    Energy Technology Data Exchange (ETDEWEB)

    Murray, Conor P.; Yoo, Shi-Joon; Babyn, Paul S. [Department of Diagnostic Imaging, Hospital for Sick Children, 555 University Avenue, M5G 1X8, Toronto, Ontario (Canada)

    2003-09-01

    A congenital extrahepatic portosystemic shunt (CEPS) is uncommon. A type 1 CEPS exists where there is absence of intrahepatic portal venous supply and a type 2 CEPS where this supply is preserved. The diagnosis of congenital portosystemic shunt is important because it may cause hepatic encephalopathy. To describe the clinical and imaging features of three children with CEPS and to review the cases in the published literature. The diagnostic imaging and medical records for three children with CEPS were retrieved and evaluated. An extensive literature search was performed. Including our cases, there are 61 reported cases of CEPS, 39 type 1 and 22 type 2. Type 1 occurs predominantly in females, while type 2 shows no significant sexual preponderance. The age at diagnosis ranges from 31 weeks of intrauterine life to 76 years. Both types of CEPS have a number of associations, the most common being nodular lesions of the liver (n=25), cardiac anomalies (n=19), portosystemic encephalopathy (n=10), polysplenia (n=9), biliary atresia (n=7), skeletal anomalies (n=5), and renal tract anomalies (n=4). MRI is recommended as an important means of diagnosing and classifying cases of CEPS and examining the associated cardiovascular and hepatic abnormalities. Screening for CEPS in patients born with polysplenia is suggested. (orig.)

  15. Pitfalls of adrenal imaging with chemical shift MRI

    International Nuclear Information System (INIS)

    Chemical shift (CS) MRI of the adrenal glands exploits the different precessional frequencies of fat and water protons to differentiate the intracytoplasmic lipid-containing adrenal adenoma from other adrenal lesions. The purpose of this review is to illustrate both technical and interpretive pitfalls of adrenal imaging with CS MRI and emphasize the importance of adherence to strict technical specifications and errors that may occur when other imaging features and clinical factors are not incorporated into the diagnosis. When performed properly, the specificity of CS MRI for the diagnosis of adrenal adenoma is over 90%. Sampling the in-phase and opposed-phase echoes in the correct order and during the same breath-hold are essential requirements, and using the first echo pair is preferred, if possible. CS MRI characterizes more adrenal adenomas then unenhanced CT but may be non-diagnostic in a proportion of lipid-poor adenomas; CT washout studies may be able to diagnose these lipid-poor adenomas. Other primary and secondary adrenal tumours and supra-renal disease entities may contain lipid or gross fat and mimic adenoma or myelolipoma. Heterogeneity within an adrenal lesion that contains intracytoplasmic lipid could be due to myelolipoma, lipomatous metaplasia of adenoma, or collision tumour. Correlation with previous imaging, other imaging features, clinical history, and laboratory investigations can minimize interpretive errors

  16. EXPRESSION OF ENDOGENOUS OUABAIN IN MULTIPLE ADRENAL TUMORS

    Institute of Scientific and Technical Information of China (English)

    2001-01-01

    Objective To explore expression of endogenous ouabain(EO) in multiple adrenal tumors.Methods Thirty-one cases of adrenal tumors and 6 cases of healthy adrenal tissues were selected. The expression of EO in the adrenal tiss ue was detected with immunohistochemical streptavidin peroxadase conjugated(SP) method.Results Most of EO positive products were localized in cy toplasm of the zona reticularis of human adrenal cortex, and positive products s howed to be fine granular. There was no positive signal in the medulla. EO showe d on diffused positive in patients with pheochromocytoma accompanied high blood pressure[SBP:(165.22±7.61) mmHg, DBP:(105.52±4.26) mmHg], but there were neg ative in ones with normative blood pressure[SBP:(118.52±4.58) mmHg, DBP:(83±3.60) m mHg]. The expression of EO was positive in all adrenocortical hyperplasic, aden oma an d carcinoma, no matter its high or normative blood pressure. The degree of expre ssion of EO in adrenal tissues was related to the level of BP.Conclusion Expression of endogenous ouabain(EO) in health y adrenal tissue and adrenal tumors was a valuable morphological and pathophysio logical clue for the research on ouabain.

  17. Clinical experience with 75Se selenomethylcholesterol adrenal imaging

    International Nuclear Information System (INIS)

    The results of quantitative adrenal imaging using 75Se selenomethylcholesterol in sixty-two subjects are analysed. The adrenal area was localized by a renal scan, lateral views of which enabled adrenal depth to be estimated. The first nineteen cases were scanned with a rectilinear scanner and the remaining forty-three cases imaged with a gamma camera. Quantitation of adrenal uptake was performed on computer-stored static images obtained 7 and 14 days post-injection of 75Se selenomethylcholesterol (3 and 6 days in the first ten cases studied). Normal uptake was found to be 0.07-0.30% of the administered dose. Overall predictive accuracy of the type of adrenal disorder of thirty-two patients with Cushing's syndrome was 90.6%. Overall predictive accuracy of the cause of Conn's syndrome in twenty-two cases was 86.4%. The mean uptake in the normal adrenal in cases of unilateral adenoma was 0.19% (range 0.07-0.30%). Causes of unsatisfactory adrenal imaging are examined. The procedure is recommended as the localizing and lateralizing technique of choice in Cushing's syndrome except where due to adrenal carcinoma, and as an important non-invasive technique in Conn's syndrome for the lateralization of adenoma. (author)

  18. Volume of the adrenal and pituitary glands in depression

    DEFF Research Database (Denmark)

    Kessing, Lars Vedel; Willer, Inge Stoel; Knorr, Ulla

    2011-01-01

    Numerous studies have shown that the hypothalamic-pituitary-adrenal (HPA) axis is hyperactive in some depressed patients. It is unclear whether such hyperactivity results in changed volumes of the adrenal glands, pituitary gland and hypothalamus. We systematically reviewed all controlled studies ...

  19. Release of galanin from isolated perfused porcine adrenal glands

    DEFF Research Database (Denmark)

    Holst, J J; Ehrhart-Bornstein, M; Messell, T; Poulsen, Steen Seier; Harling, H

    anesthetized pigs increased the concentration of galanin in the caval vein but not in arterial plasma. It is concluded that galanin, coreleased with catecholamines from the adrenal glands, may have endocrine functions but that galanin may also have local regulatory functions in the adrenals....

  20. Synchronous Bilateral Adrenal Metastases from Papillary Renal Cell Carcinoma

    Directory of Open Access Journals (Sweden)

    Kaan Gokcen

    2014-12-01

    Full Text Available We report a case of synchronous bilateral adrenal metastasis of renal cell carcinoma. The contralateral metastatic adrenal mass was treated by the laparoscopic transperitoneal approach. The renal mass and its huge ipsilateral metastatic adrenal gland were removed en bloc with open procedure. A 54-year-old man presented to our clinic with left-sid renal cell carcinoma synchronously bilateral adrenal metastases. The primary tumor was localized in the upper-mid pole of the kidney. The diagnosis was established preoperatively by computed tomography. The size of the contralateral adrenal mass was 65 x 45 mm, but the ipsilateral metastatic adrenal mass was huge (140 x 65 mm. After all analysis and other scannings for any metastasis, a contralateral lapararoscopic transperitoneal adrenalectomy and a left open nephroadrenalectomy were performed simultaneously. Synchronous bilateral adrenal metastases from primary renal cell carcinoma without another metastasis is very rare. The optimal surgical procedure should be selected according to the metastatic adrenal masses size and the patient%u2019s status.

  1. Incidence and Cause of Hypertension During Adrenal Radiofrequency Ablation

    International Nuclear Information System (INIS)

    Purpose: To evaluate the incidence and cause of hypertension prospectively during adrenal radiofrequency ablation (RFA). Methods: For this study, approved by our institutional review board, written informed consent was obtained from all patients. Patients who received RFA for adrenal tumors (adrenal ablation) and other abdominal tumors (nonadrenal ablation) were included in this prospective study. Blood pressure was monitored during RFA. Serum adrenal hormone levels including epinephrine, norepinephrine, dopamine, and cortisol levels were measured before and during RFA. The respective incidences of procedural hypertension (systolic blood pressure >200 mmHg) of the two patient groups were compared. Factors correlating with procedural systolic blood pressure were evaluated by regression analysis.ResultsNine patients underwent adrenal RFA and another 9 patients liver (n = 5) and renal (n = 4) RFA. Asymptomatic procedural hypertension that returned to the baseline by injecting calcium blocker was found in 7 (38.9%) of 18 patients. The incidence of procedural hypertension was significantly higher in the adrenal ablation group (66.7%, 6/9) than in the nonadrenal ablation group (11.1%, 1/9, P 2 = 0.68, P 2 = 0.72, P < 0.0001) levels during RFA. The other adrenal hormones did not show correlation with procedural systolic blood pressure. Conclusion: Hypertension occurs frequently during adrenal RFA because of the release of catecholamine.

  2. Histologic and Immunohistochemical classification of 41 bovine adrenal gland neoplasms

    DEFF Research Database (Denmark)

    Grossi, Anette Blak; Leifsson, Páll S.; Jensen, Henrik Elvang;

    2013-01-01

    Tumors of the adrenal glands are among the most frequent tumors in cattle; however, few studies have been conducted to describe their characteristics. The aim of this study was to classify 41 bovine adrenal neoplasms from 40 animals based on macroscopic and histologic examination, including...

  3. Adrenal vein sampling in primary aldosteronism: towards a standardised protocol.

    Science.gov (United States)

    Monticone, Silvia; Viola, Andrea; Rossato, Denis; Veglio, Franco; Reincke, Martin; Gomez-Sanchez, Celso; Mulatero, Paolo

    2015-04-01

    Primary aldosteronism comprises subtypes that need different therapeutic strategies. Adrenal vein sampling is recognised by Endocrine Society guidelines as the only reliable way to correctly diagnose the subtype of primary aldosteronism. Unfortunately, despite being the gold-standard procedure, no standardised procedure exists either in terms of performance or interpretation criteria. In this Personal View, we address several questions that clinicians are presented with when considering adrenal vein sampling. For each of these questions we provide responses based on the available evidence, and opinions based on our experience. In particular, we discuss the most appropriate way to prepare the patient, whether adrenal vein sampling can be avoided for some subgroups of patients, the use of ACTH (1-24) during the procedure, the most appropriate criteria for interpretation of adrenal vein cannulation and lateralisation, the use of contralateral suppression, and strategies to improve success rates of adrenal vein sampling in centres with little experience. PMID:24831990

  4. Computed tomography in primary and secondary adrenal tumours

    International Nuclear Information System (INIS)

    The purpose of the study was to find out how reliably benign and malignant adrenal tumours can be differentiated on the basis of CT characteristics. The material included 86 adrenal tumours with the following confirmed diagnoses: 48 primary adrenal tumours (8 carcinomas, 1 neuroblastoma, 4 pheochromocytomas, 31 adenomas, 3 cysts, 1 haemangioma) and 38 metastases. The size, density, homogeneity, enhancement and growth of the tumours were evaluated. No specific CT findings could separate benign from malignant tumours. Coexistence of cancer and bilateral non-homogenous adrenal masses is probably sufficient for the diagnosis of adrenal metastases. In cases of coincidental small (< 3 cm), homogeneous and relatively hypodense masses with no signs of hormonal activity, a follow-up examination of the lesion within three months is recommended. Other masses may indicate further diagnostic procedures. (orig.)

  5. The place of imaging in exploration of the adrenal glands

    International Nuclear Information System (INIS)

    Currently, the major method of adrenal gland imaging is computed tomography. This method allows demonstration of normal adrenals and the diagnosis of adrenal masses (if these are greater than 1 cm in diameter). The examination should be directed by clinical signs and known laboratory investigations. Computed tomography is therefore the first line investigation to perform. Certain lesions may be better demonstrated by other methods: MRI and MIBG scintigraphy offer a greater specificity in the investigation of pheochromocytomas. In addition, scintigraphy can identify possible ectopic tumours or recurrences. - Selective catheterisation of the adrenal veins allows aldosterone and cortisone secretions to be assayed. There remains the problem of the incidental finding of adrenal masses in either an asymptomatic patient or in the context of investigation of spread of a known cancer. These lesions may benefit from diagnostic percutaneous guided biopsy

  6. Contrast-enhanced ultrasonography of the normal canine adrenal gland.

    Science.gov (United States)

    Pey, Pascaline; Vignoli, Massimo; Haers, Hendrik; Duchateau, Luc; Rossi, Federica; Saunders, Jimmy H

    2011-01-01

    Contrast-enhanced ultrasonography is useful in differentiating adrenal gland adenomas from nonadenomatous lesions in human patients. The purposes of this study were to evaluate the feasibility and to describe contrast-enhanced ultrasonography of the normal canine adrenal gland. Six healthy female Beagles were injected with an intravenous bolus of a lipid-shelled contrast agent (SonoVue(®) ). The aorta enhanced immediately followed by the renal artery and then the adrenal gland. Adrenal gland enhancement was uniform, centrifugal, and rapid from the medulla to the cortex. When maximum enhancement was reached, a gradual homogeneous decrease in echogenicity of the adrenal gland began and simultaneously enhancement of the phrenicoabdominal vessels was observed. While enhancement kept decreasing in the adrenal parenchyma, the renal vein, caudal vena cava, and phrenicoabdominal vein were characterized by persistent enhancement until the end of the study. A second contrast enhancement was observed, corresponding to the refilling time. Objective measurements were performed storing the images for off-line image analysis using Image J (ImageJ(©) ). The shape of the time-intensity curve reflecting adrenal perfusion was similar in all dogs. Ratios of the values of the cortex and the medulla to the values of the renal artery were characterized by significant differences from initial upslope to the peak allowing differentiation between the cortex and the medulla for both adrenal glands only in this time period. Contrast-enhanced ultrasonography of the adrenal glands is feasible in dogs and the optimal time for adrenal imaging is between 5 and 90 s after injection. PMID:21521396

  7. Congenital hypothyroidism: current perspectives

    Directory of Open Access Journals (Sweden)

    Dayal D

    2015-07-01

    Full Text Available Devi Dayal, Rajendra Prasad Department of Pediatrics, Pediatric Endocrinology and Diabetes Unit, Postgraduate Institute of Medical Education and Research, Chandigarh, India Abstract: Congenital hypothyroidism (CH, the most common pediatric endocrine disorder with an estimated prevalence of 1:2,000 to 1:4,000, is an under-recognized problem in countries without routine newborn screening (NBS programs. Thyroid dysgenesis (TD is the most common cause of primary CH accounting for approximately 85% of all cases; most of the remaining patients have dyshormonogenesis. Transient CH and CH with eutopic gland, are increasingly being identified after introduction of routine NBS. The clinical features of CH are often subtle resulting in delayed diagnosis and eventually poor intellectual outcome. In developed countries, detection by NBS and early initiation of treatment has largely eliminated the intellectual disability caused by this disorder. The lower screening thyroid stimulating hormone (TSH cutoff and changes in birth demographics in some countries have been associated with an increase in the reported incidence of CH. However, the additional cases detected by the lower TSH cutoff tend to have either milder or transient hypothyroidism. Diagnosis of CH is made on the basis of serum concentrations of TSH and thyroxine (T4. Thyroid ultrasound, radionuclide scintigraphy, serum thyroglobulin (TG levels and specific genetic tests help ascertaining the exact etiological diagnosis. Non-availability of later tests should not deter the pediatrician from initiation of treatment. Age at initiation of treatment and starting dose of levothyroxine are critical factors that determine the long-term outcome. Higher doses of levothyroxine at 10–15 µg/kg/day are required in infants, with titration based on T4 and TSH levels, which are repeated frequently. Coexistence of other congenital anomalies in children with CH adds to the morbidity. Approximately 70% of babies

  8. Cancerous leptomeningitis and familial congenital hypopituitarism.

    Science.gov (United States)

    Vujovic, S; Vujosevic, S; Kavaric, S; Sopta, J; Ivovic, M; Saveanu, A; Brue, T; Korbonits, M; Popovic, V

    2016-05-01

    People are at higher risk of cancer as they get older or have a strong family history of cancer. The potential influence of environmental and behavioral factors remains poorly understood. Earlier population and case control studies reported that upper quartile of circulating IGF-I is associated with a higher risk of developing cancer suggesting possible involvement of the growth hormone (GH)/IGF system in initiation or progression of cancer. Since GH therapy increases IGF-1 levels, there have been concerns that GH therapy in hypopituitarism might increase the risk of cancer. We report a 42-year-old female patient who presented with subacute onset of symptoms of meningitis and with the absence of fever which resulted in death 70 days after the onset of symptoms. The patient together with her younger brother was diagnosed at the age of 5 years with familial congenital hypopituitarism, due to homozygous mutation c.150delA in PROP1 gene. Due to evolving hypopituitarism, she was replaced with thyroxine (from age 5), hydrocortisone (from age 13), GH (from age 13 until 17), and sex steroids in adolescence and adulthood. Her consanguineous family has a prominent history of malignant diseases. Six close relatives had malignant disease including her late maternal aunt with breast cancer. BRCA 1 and BRCA 2 mutational analysis in the patient's mother was negative. Histology after autopsy disclosed advanced ovarian cancer with multiple metastases to the brain, leptomeninges, lungs, heart, and adrenals. Low circulating IGF-1 did not seem to protect this patient from cancer initiation and progression in the context of strong family history of malignancies. PMID:26886902

  9. Congenital pyriform aperture stenosis

    Energy Technology Data Exchange (ETDEWEB)

    Osovsky, Micky [Schneider Pediatric Hospital, Department of Neonatology, Petach Tikvah (Israel); Rabin Medical Center, Department of Neonatology, Schneider Children' s Medical Center of Israel, Beilinson Campus, Petah Tikvah (Israel); Aizer-Danon, Anat; Horev, Gadi [Schneider Pediatric Hospital, Department of Pediatric Radiology, Petach Tikvah (Israel); Sirota, Lea [Schneider Pediatric Hospital, Department of Neonatology, Petach Tikvah (Israel)

    2007-01-15

    Nasal airway obstruction is a potentially life-threatening condition in the newborn. Neonates are obligatory nasal breathers. The pyriform aperture is the narrowest, most anterior bony portion of the nasal airway, and a decrease in its cross-sectional area will significantly increase nasal airway resistance. Congenital nasal pyriform aperture stenosis (CNPAS) is a rare, unusual form of nasal obstruction. It should be considered in the differential diagnosis of any neonate or infant with signs and symptoms of upper airway compromise. It is important to differentiate this level of obstruction from the more common posterior choanal stenosis or atresia. CNPAS presents with symptoms of nasal airway obstruction, which are often characterized by episodic apnea and cyclical cyanosis. (orig.)

  10. Congenital hypothyroidism: Screening dilemma

    Directory of Open Access Journals (Sweden)

    Meena P Desai

    2012-01-01

    Full Text Available Primary sporadic congenital hypothyroidism (CH is the most common cause of hypothyroidism infancy early childhood in iodine sufficient region. Screening for neonatal CH began in 1970s. The rationale and reason for neonatal screening for CH (NSCH are well established. It is mandatory in most developed countries along with the screen for metabolic disorder. The possibility of measuring TSH and thyroid hormones in cord blood paved the way for newborn screening (NS for CH. Worldwide it is estimated that 25% of the live born population of 130 million babies undergo NSCH. Klein et al., by 1972 had shown improved CNS prognosis in CH treated by age 3 months. NSCH has largely eradicated the severe irreversible neurodevelopmental damage and reversed the chances of growth failure in infancy and early childhood.

  11. Giant Congenital Melanocytic Nevus

    DEFF Research Database (Denmark)

    Rasmussen, Bo Sonnich; Henriksen, Trine Foged; Kølle, Stig-Frederik Trojahn;

    2015-01-01

    , and 25% versus 44% required unplanned additional surgery, respectively. Complications were noted in 25% and 67% of the patients, respectively. Cosmetic result was satisfying in 76% of patients without difference between the groups. No malignant transformation was found during a mean follow-up of 11......Giant congenital melanocytic nevi (GCMN) occur in 1:20,000 livebirths and are associated with increased risk of malignant transformation. The treatment of GCMN from 1981 to 2010 in a tertiary referral center was reviewed evaluating the modalities used, cosmetic results, associated complications......, and malignant transformation. Of 35 patients, 25 underwent surgery. Curettage was most frequently used (64%) followed by excision and tissue expansion (20%). Six percent of the patients treated with curettage, and 78% of the patients who received excision surgery required more than 1 planned procedure...

  12. Multicystic congenital mesoblastic nephroma.

    Science.gov (United States)

    Drut, Ricardo

    2002-01-01

    This report describes an unusual example of congenital mesoblastic nephroma cellular variant that presented in a 1-week-old neonate as a multicystic tumor of the kidney. Extensive pseudocystic cavitation resulted from progressive accumulation of ground substance in a loosely myxoid tissue composed of stellate- and spindle-shaped cells that compressed and infiltrated renal tissue. The cells of the tumor were positive for vimentin and smooth muscle actin. The patient is alive and well 16 years after surgery. Differential diagnosis from segmental cystic dysplasia, cystic intralobar nephrogenic rest, cystic nephroma, cystic partially differentiated nephroblastoma, cystic nephroblastoma, and cystic clear cell sarcoma of the kidney, all of which may present at this age, is discussed. PMID:11927972

  13. Congenital sensorineural hearing loss

    International Nuclear Information System (INIS)

    The ears of 47 selected patients with congenital sensorineural hearing loss were examined with complex-motion tomography. The patients were divided into 3 general categories: those with a recognized syndrome, those with sensorineural hearing loss unrelated to any known syndrome, and those with microtia. A great variety of inner ear anomalies was detected, but rarely were these characteristic of a particular clinical entity. The most common finding was the Mondini malformation or one of its variants. Isolated dysplasia of the internal auditory canal or the vestibular aqueduct may be responsible for sensorineural hearing loss in some patients. Patients with microtia may also have severe inner ear abnormalities despite the fact that the outer and inner ears develop embryologically from completely separate systems

  14. Usefulness of F-18 FDG PET/CT in Adrenal Incidentaloma: Differential Diagnosis of Adrenal Metastasis in Oncologic Patients

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Hong Je; Song, Bong Il; Kang, Sung Min; Jeong, Shin Young; Seo, Ji Hyoung; Lee, Sang Woo; Yoo, Jeong Soo; Ahn, Byeong Cheol; Lee, Jae Tae [Kyungpook National University School of Medicine, Daegu (Korea, Republic of)

    2009-10-15

    We have evaluated characteristics of adrenal masses incidentally observed in nonenhanced F-18 FDG PET/CT of the oncologic patients and the diagnostic ability of F-18 FDG PET/CT to differentiate malignant from benign adrenal masses. Between Mar 2005 and Aug 2008, 75 oncologic patients (46 men, 29 women; mean age, 60.8{+-}10.2 years; range, 35-87 years) with 89 adrenal masses incidentally found in PET/CT were enrolled in this study. For quantitative analysis, size (cm), Hounsfield unit (HU), maximum standardized uptake value (SUVmax), SUVratio of all 89 adrenal masses were measured. SUVmax of the adrenal mass divided by SUVliver, which is SUVmax of the segment 8, was defined as SUVratio. The final diagnosis of adrenal masses was based on pathologic confirmation, radiologic evaluation (HU<0 : benign), and clinical decision. Size, HU, SUVmax, and SUVratio were all significantly different between benign and malignant adrenal masses.(P < 0.05) And, SUVratio was the most accurate parameter. A cut-off value of 1.0 for SUVratio provided 90.9% sensitivity and 75.6% specificity. In small adrenal masses (1.5 cm or less), only SUVratio had statistically significant difference between benign and malignant adrenal masses. Similarly a cut-off value of 1.0 for SUVratio provided 80.0% sensitivity and 86.4% specificity. F-18 FDG PET/CT can offer more accurate information with quantitative analysis in differentiating malignant from benign adrenal masses incidentally observed in oncologic patients, compared to nonenhanced CT.

  15. Usefulness of F-18 FDG PET/CT in Adrenal Incidentaloma: Differential Diagnosis of Adrenal Metastasis in Oncologic Patients

    International Nuclear Information System (INIS)

    We have evaluated characteristics of adrenal masses incidentally observed in nonenhanced F-18 FDG PET/CT of the oncologic patients and the diagnostic ability of F-18 FDG PET/CT to differentiate malignant from benign adrenal masses. Between Mar 2005 and Aug 2008, 75 oncologic patients (46 men, 29 women; mean age, 60.8±10.2 years; range, 35-87 years) with 89 adrenal masses incidentally found in PET/CT were enrolled in this study. For quantitative analysis, size (cm), Hounsfield unit (HU), maximum standardized uptake value (SUVmax), SUVratio of all 89 adrenal masses were measured. SUVmax of the adrenal mass divided by SUVliver, which is SUVmax of the segment 8, was defined as SUVratio. The final diagnosis of adrenal masses was based on pathologic confirmation, radiologic evaluation (HU<0 : benign), and clinical decision. Size, HU, SUVmax, and SUVratio were all significantly different between benign and malignant adrenal masses.(P < 0.05) And, SUVratio was the most accurate parameter. A cut-off value of 1.0 for SUVratio provided 90.9% sensitivity and 75.6% specificity. In small adrenal masses (1.5 cm or less), only SUVratio had statistically significant difference between benign and malignant adrenal masses. Similarly a cut-off value of 1.0 for SUVratio provided 80.0% sensitivity and 86.4% specificity. F-18 FDG PET/CT can offer more accurate information with quantitative analysis in differentiating malignant from benign adrenal masses incidentally observed in oncologic patients, compared to nonenhanced CT

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

    International Nuclear Information System (INIS)

    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 6β-[131I]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

  17. 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.

  18. Adrenal gland infection by serotype 5 adenovirus requires coagulation factors.

    Directory of Open Access Journals (Sweden)

    Lucile Tran

    Full Text Available Recombinant, replication-deficient serotype 5 adenovirus infects the liver upon in vivo, systemic injection in rodents. This infection requires the binding of factor X to the capsid of this adenovirus. Another organ, the adrenal gland is also infected upon systemic administration of Ad, however, whether this infection is dependent on the cocksackie adenovirus receptor (CAR or depends on the binding of factor X to the viral capsid remained to be determined. In the present work, we have used a pharmacological agent (warfarin as well as recombinant adenoviruses lacking the binding site of Factor X to elucidate this mechanism in mice. We demonstrate that, as observed in the liver, adenovirus infection of the adrenal glands in vivo requires Factor X. Considering that the level of transduction of the adrenal glands is well-below that of the liver and that capsid-modified adenoviruses are unlikely to selectively infect the adrenal glands, we have used single-photon emission computed tomography (SPECT imaging of gene expression to determine whether local virus administration (direct injection in the kidney could increase gene transfer to the adrenal glands. We demonstrate that direct injection of the virus in the kidney increases gene transfer in the adrenal gland but liver transduction remains important. These observations strongly suggest that serotype 5 adenovirus uses a similar mechanism to infect liver and adrenal gland and that selective transgene expression in the latter is more likely to be achieved through transcriptional targeting.

  19. The effects of stress on brain and adrenal stem cells.

    Science.gov (United States)

    de Celis, M F R; Bornstein, S R; Androutsellis-Theotokis, A; Andoniadou, C L; Licinio, J; Wong, M-L; Ehrhart-Bornstein, M

    2016-05-01

    The brain and adrenal are critical control centers that maintain body homeostasis under basal and stress conditions, and orchestrate the body's response to stress. It is noteworthy that patients with stress-related disorders exhibit increased vulnerability to mental illness, even years after the stress experience, which is able to generate long-term changes in the brain's architecture and function. High levels of glucocorticoids produced by the adrenal cortex of the stressed subject reduce neurogenesis, which contributes to the development of depression. In support of the brain-adrenal connection in stress, many (but not all) depressed patients have alterations in the components of the limbic-hypothalamic-pituitary-adrenal (LHPA) axis, with enlarged adrenal cortex and increased glucocorticoid levels. Other psychiatric disorders, such as post-traumatic stress disorder, bipolar disorder and depression, are also associated with abnormalities in hippocampal volume and hippocampal function. In addition, hippocampal lesions impair the regulation of the LHPA axis in stress response. Our knowledge of the functional connection between stress, brain function and adrenal has been further expanded by two recent, independent papers that elucidate the effects of stress on brain and adrenal stem cells, showing similarities in the way that the progenitor populations of these organs behave under stress, and shedding more light into the potential cellular and molecular mechanisms involved in the adaptation of tissues to stress. PMID:26809844

  20. Congenital pseudarthrosis of the clavicle

    Energy Technology Data Exchange (ETDEWEB)

    Currarino, Guido [Texas Scottish Rite Hospital for Children, Department of Radiology, Dallas, TX (United States); Herring, John A. [Texas Scottish Rite Hospital for Children, Department of Orthopedic Surgery, Dallas, TX (United States)

    2009-12-15

    Congenital pseudarthrosis is an uncommon anomaly poorly referred to in the pediatric literature. To describe congenital pseudarthrosis in children. We discuss the presentation, clinical symptomatology, and treatment. We reviewed the records of four children with congenital pseudarthrosis from 1990 to 2009 at the radiology department of Texas Scottish Rite Hospital for Children. Four girls ages 4 through 14 were identified. Three children presented with a bulge in the mid-clavicle as a chief complaint. The fourth child (14 years old) had bluish discoloration of the right upper extremity with venous distention. Three of the four did not have other abnormalities, while the 14-year-old had exostosis on the left hand. The mid-portion of the right clavicle was involved in all four children. Three of the four were treated surgically. Congenital pseudarthrosis of the clavicle is an uncommon anomaly found mostly in girls and in the mid-right clavicle. (orig.)

  1. Congenital pseudarthrosis of the clavicle

    International Nuclear Information System (INIS)

    Congenital pseudarthrosis is an uncommon anomaly poorly referred to in the pediatric literature. To describe congenital pseudarthrosis in children. We discuss the presentation, clinical symptomatology, and treatment. We reviewed the records of four children with congenital pseudarthrosis from 1990 to 2009 at the radiology department of Texas Scottish Rite Hospital for Children. Four girls ages 4 through 14 were identified. Three children presented with a bulge in the mid-clavicle as a chief complaint. The fourth child (14 years old) had bluish discoloration of the right upper extremity with venous distention. Three of the four did not have other abnormalities, while the 14-year-old had exostosis on the left hand. The mid-portion of the right clavicle was involved in all four children. Three of the four were treated surgically. Congenital pseudarthrosis of the clavicle is an uncommon anomaly found mostly in girls and in the mid-right clavicle. (orig.)

  2. Diagnosis of Congenital Myasthenic Syndromes

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2004-02-01

    Full Text Available Clinical and neurophysiological data of 11 patients (4 males, 7 females with congenital myasthenic syndromes (CMS diagnosed between 1994 and 2000 are reported from Great Ormond Street Hospital, London, UK.

  3. Genetics Home Reference: congenital hyperinsulinism

    Science.gov (United States)

    ... Z, Arya VB, Hussain K. Hyperinsulinaemic hypoglycaemia:genetic mechanisms, diagnosis and management. J Clin Res Pediatr Endocrinol. ... Shyng SL, Stanley CA. Clinical characteristics and biochemical mechanisms of congenital hyperinsulinism associated with dominant KATP channel ...

  4. Congenital heart defect corrective surgeries

    Science.gov (United States)

    ... open Arrhythmias Atrial septal defect (ASD) Breathing difficulty Cardiac catheterization Cardiovascular Coarctation of the aorta Congenital heart disease Heart failure - overview Heart transplant Hypoplastic left heart syndrome Patent ductus arteriosus Pediatric ...

  5. Risk factors for congenital hydrocephalus

    DEFF Research Database (Denmark)

    Munch, Tina Noergaard; Rasmussen, Marie-Louise Hee; Wohlfahrt, Jan;

    2014-01-01

    OBJECTIVES: To investigate the associations between isolated congenital hydrocephalus (CHC) and maternal characteristics, maternal medical diseases, and medicine intake during pregnancy as well as birth characteristics of the child in a retrospective, register-based, nationwide cohort study. Furt...

  6. Transperitoneal Laparoscopic Adrenalectomy for Adrenal Tumours: Experience with 54 Patients

    Directory of Open Access Journals (Sweden)

    Melih Balci

    2015-06-01

    Full Text Available Objective: To present our laparoscopic surgery experience in the treatment of adrenal masses. Methods: Between January 2008 and March 2015, a total of 58 adrenal glands in 54 patients (39 females, 15 males underwent transperitoneal laparoscopic adrenalectomy (TLA to remove an adrenal mass. The patients underwent hormonal evaluation, triphasic magnetic resonance imaging, and/or abdominal computed tomography. Thirty-one patients (57.4% had a hormonally active adrenal mass. Results: Twenty-nine right, 21 left, and 4 bilateral TLA were performed. The mean age and body mass index of the patients were 49.5±11.2 years and 27.2±4.3 kg/m2, respectively. The mean adrenal mass size, operation time, estimated blood loss, and hospitalisation duration were 35.9±15.0 mm, 92.7±29.6 minutes, 50.8±33.1 ml, and 3.7±2.5 days, respectively. No minor or major complications were observed postoperatively. In pathological examinations, 38 (70.3% patients had adenoma or adrenal hyperplasia, 8 (14.7% had pheochromocytoma, 2 (3.7% had periadrenal paraganglioma, 2 (3.7% had adrenal cysts, 1 (1.9% had schwannoma, 1 (1.9% had myelolipoma, 1 (1.9% had myeloid metaplasia, and 1 (1.9% had adrenal cortical carcinoma. Conclusion: TLA is a safe and efficient minimally invasive treatment option with a low morbidity rate in the surgical treatment of adrenal masses.

  7. Adrenal pseudomasses due to varices: angiographic-CT-MRI-pathologic correlations

    International Nuclear Information System (INIS)

    Periadrenal and adrenal portosystemic collaterals are a recently reported cause of adrenal pseudotumor on computed tomography (CT). Nine patients with this left adrenal pseudotumor illustrate its typical position and appearance on CT, angiography, CT-angiography, and magnetic resonance imaging (MRI). The anatomic basis for variceal adrenal pseudotumors is the left inferior phrenic vein, which passes immediately anterior to the left adrenal gland and which serves as a collateral pathway from splenic to left renal vein in portal hypertension. Thus, unlike previously described adrenal pseudotumors, these venous collaterals are not anatomically distinguishable from the adrenal gland on CT. Bolus dynamic CT is usually diagnostic, but in equivocal cases, MRI may prove useful

  8. Congenital Self-Healing Reticulohistiocytosis

    OpenAIRE

    Lee, Young H.; Talekar, Mala K.; Chung, Catherine G.; Bell, Moshe D.; Zaenglein, Andrea L.

    2014-01-01

    Congenital self-healing reticulohistiocytosis, also known as congenital self-healing Langerhans cell histiocytosis or Hashimoto-Pritzker disease, is a Langerhans cell histiocytosis. It is characterized by skin lesions in the newborn period in an otherwise healthy infant that show a Langerhans cell infiltrate in the skin on histological analysis. These findings subsequently spontaneously involute. This report describes two newborns who presented at birth with differing presentations of congeni...

  9. Congenital bronchoesophageal fistula in adults

    Institute of Scientific and Technical Information of China (English)

    Bao-Shi Zhang; Nai-Kang Zhou; Chang-Hai Yu

    2011-01-01

    AIM: To study the clinical characteristics, diagnosis and surgical treatment of congenital bronchoesophageal fistulae in adults. METHODS: Eleven adult cases of congenital bronchoesophageal fistula diagnosed and treated in our hospital between May 1990 and August 2010 were reviewed. Its clinical presentations, diagnostic methods, anatomic type, treatment, and follow-up were recorded. RESULTS: Of the chief clinical presentations, nonspecific cough and sputum were found in 10 (90.9%), recurrent bouts of cough after drinking liquid food in 6 (54.6%), hemoptysis in 6 (54.6%), low fever in 4 (36.4%), and chest pain in 3 (27.3%) of the 11 cases, respectively. The duration of symptoms before diagnosis ranged 5-36.5 years. The diagnosis of congenital bronchoesophageal fistulae was established in 9 patients by barium esophagography, in 1 patient by esophagoscopy and in 1 patient by bronchoscopy, respectively. The congenital bronchoesophageal fistulae communicated with a segmental bronchus, a main bronchus, and an intermediate bronchus in 8, 2 and 1 patients, respectively. The treatment of congenital bronchoesophageal fistulae involved excision of the fistula in 10 patients or division and suturing in 1 patient. The associated lung lesion was removed in all patients. No long-term sequelae were found during the postoperative follow-up except in 1 patient with bronchial fistula who accepted reoperation before recovery. CONCLUSION: Congenital bronchoesophageal fistula is rare in adults. Its most useful diagnostic method is esophagography. It must be treated surgically as soon as the diagnosis is established.

  10. Congenital and perinatal cytomegalovirus infection

    Directory of Open Access Journals (Sweden)

    Chun Soo Kim

    2010-01-01

    Full Text Available Cytomegalovirus (CMV is currently the most common agent of congenital infection and the leading infectious cause of brain damage and hearing loss in children. Symptomatic congenital CMV infections usually result from maternal primary infection during early pregnancy. One half of symptomatic infants have cytomegalic inclusion disease (CID, which is characterized by involvement of multiple organs, in particular, the reticuloendothelial and central nervous system (CNS. Moreover, such involvement may or may not include ocular and auditory damage. Approximately 90% of infants with congenital infection are asymptomatic at birth. Preterm infants with perinatal CMV infection can have symptomatic diseases such as pneumonia, hepatitis, and thrombocytopenia. Microcephaly and abnormal neuroradiologic imaging are associated with a poor prognosis. Hearing loss may occur in both symptomatic and asymptomatic infants with congenital infection and may progress through childhood. Congenital infection is defined by the isolation of CMV from infants within the first 3 weeks of life. Ganciclovir therapy can be considered for infants with symptomatic congenital CMV infection involving the CNS. Pregnant women of seronegative state should be counseled on the importance of good hand washing and other control measures to prevent CMV infection. Heat treatment of infected breast milk at 72?#608;for 5 seconds can eliminate CMV completely.

  11. [Cystic lymphangioma of the adrenal gland. Three misleading cases].

    Science.gov (United States)

    Berthet, B; Christophe, M; Siméoni, J; Jean, F; Le Treut, Y P; Bricot, R; Assadourian, R

    1993-01-23

    Three cases of adrenal cystic lymphangioma are reported. In 1 patient the lesion was complicated by intracystic haemorrhage. The remaining 2 patients had a hepatic lesion which was treated in the same surgical operation as the adrenal cyst. Ultrasonography and computerized tomography play a major role in the exploration of these cysts. Their unexpected discovery has become more frequent since these methods have multiplied, and this raises therapeutic problems. The nature of adrenal cysts is determined at histology. In asymptomatic cysts percutaneous needle aspiration can only have an indicative value. PMID:8493206

  12. Early intervention and management of adrenal insufficiency in children.

    LENUS (Irish Health Repository)

    Moloney, Sinéad

    2012-09-01

    The endocrine disorder adrenal insufficiency includes inadequate production of the steroid hormone cortisol. This results in poor physiological responses to illness, trauma or other stressors and risk of adrenal crisis. Management is based on administration of hydrocortisone. It is important to avoid under- or over-treatment and increase the dosage during times of physiological stress. To reduce morbidity, hospital admissions and mortality, the education and empowerment of parents and carers, and prompt intervention when necessary are essential. A steroid therapy card for adrenal insufficiency containing personal information on a patient\\'s condition was developed for use by families and their specialist centres.

  13. 131I-19-iodocholesterol adrenal scanning in Cushing's syndrome

    International Nuclear Information System (INIS)

    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 131I-19-iodocholesterol uptake. Adrenal imaging with 131I-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

  14. Intense Adrenal Enhancement: A CT Feature of Cardiogenic Shock

    Energy Technology Data Exchange (ETDEWEB)

    Hrabak-Paar, Maja, E-mail: maja.hrabak.paar@mef.hr [University of Zagreb School of Medicine, Department of Diagnostic and Interventional Radiology, University Hospital Center Zagreb (Croatia)

    2016-02-15

    In this report, images of intense adrenal enhancement in a 79-year-old female patient with right-sided heart failure and severe tricuspid insufficiency are presented. Only two cases of intense adrenal enhancement as a sign of cardiogenic shock were previously reported in the literature. Intense adrenal enhancement could be one of the earliest CT signs of cardiogenic shock. Its presence should be immediately reported to the referring physician as a sign of significant hemodynamic instability warranting early critical-care management.

  15. Bidirectional coherent classical communication

    OpenAIRE

    Harrow, Aram W.; Leung, Debbie W.

    2005-01-01

    A unitary interaction coupling two parties enables quantum or classical communication in both the forward and backward directions. Each communication capacity can be thought of as a tradeoff between the achievable rates of specific types of forward and backward communication. Our first result shows that for any bipartite unitary gate, bidirectional coherent classical communication is no more difficult than bidirectional classical communication — they have the same achievable rate regions. ...

  16. Entanglement in Classical Optics

    OpenAIRE

    Ghose, Partha; Mukherjee, Anirban

    2013-01-01

    The emerging field of entanglement or nonseparability in classical optics is reviewed, and its similarities with and differences from quantum entanglement clearly pointed out through a recapitulation of Hilbert spaces in general, the special restrictions on Hilbert spaces imposed in quantum mechanics and the role of Hilbert spaces in classical polarization optics. The production of Bell-like states in classical polarization optics is discussed, and new theorems are proved to discriminate betw...

  17. Classical, Semi-classical and Quantum Noise

    CERN Document Server

    Poor, H; Scully, Marlan

    2012-01-01

    David Middleton was a towering figure of 20th Century engineering and science and one of the founders of statistical communication theory. During the second World War, the young David Middleton, working with Van Fleck, devised the notion of the matched filter, which is the most basic method used for detecting signals in noise. Over the intervening six decades, the contributions of Middleton have become classics. This collection of essays by leading scientists, engineers and colleagues of David are in his honor and reflect the wide  influence that he has had on many fields. Also included is the introduction by Middleton to his forthcoming book, which gives a wonderful view of the field of communication, its history and his own views on the field that he developed over the past 60 years. Focusing on classical noise modeling and applications, Classical, Semi-Classical and Quantum Noise includes coverage of statistical communication theory, non-stationary noise, molecular footprints, noise suppression, Quantum e...

  18. Teleportation via classical entanglement

    CERN Document Server

    Rafsanjani, Seyed Mohammad Hashemi; Magaña-Loaiza, Omar S; Boyd, Robert W

    2015-01-01

    We present a classical counterpart to quantum teleportation that uses classical entanglement instead of quantum entanglement. In our implementation we take advantage of classical entanglement among three parties: orbital angular momentum (OAM), polarization, and the radial degrees of freedom of a beam of light. We demonstrate the teleportation of arbitrary OAM states, in the subspace spanned by any two OAM states, to the polarization of the same beam. Our letter presents the first classical demonstration of a commonly-perceived--quantum phenomenon that requires entanglement among more than two parties.

  19. Teaching NeuroImages: Characteristic phenotype of Ullrich congenital muscular dystrophy

    OpenAIRE

    Liew, Wendy K. M.; Darras, Basil T.

    2013-01-01

    A 21-year-old woman presented with clinically classic signs of Ullrich congenital muscular dystrophy1 (figure). Genetic testing of collagen VI genes revealed a homozygous mutation c.2329T>C, p.Cys777Arg in the COL6A2 gene, consistent with the clinical diagnosis.

  20. Changes of laminin beta 2 chain expression in congenital muscular dystrophy

    DEFF Research Database (Denmark)

    Cohn, R D; Herrmann, R; Wewer, U M;

    1997-01-01

    We studied the distribution of laminin beta 2 chain in the skeletal muscle basement membrane of 16 patients with congenital muscular dystrophy (CMD) by immunohistochemistry. A dramatic reduction in the laminin beta 2 staining was observed in four patients with classical merosin-negative CMD. A...

  1. Congenital pulmonary lymphangiectasia

    Directory of Open Access Journals (Sweden)

    Campisi Corradino

    2006-10-01

    Full Text Available Abstract Congenital pulmonary lymphangiectasia (PL is a rare developmental disorder involving the lung, and characterized by pulmonary subpleural, interlobar, perivascular and peribronchial lymphatic dilatation. The prevalence is unknown. PL presents at birth with severe respiratory distress, tachypnea and cyanosis, with a very high mortality rate at or within a few hours of birth. Most reported cases are sporadic and the etiology is not completely understood. It has been suggested that PL lymphatic channels of the fetal lung do not undergo the normal regression process at 20 weeks of gestation. Secondary PL may be caused by a cardiac lesion. The diagnostic approach includes complete family and obstetric history, conventional radiologic studies, ultrasound and magnetic resonance studies, lymphoscintigraphy, lung functionality tests, lung biopsy, bronchoscopy, and pleural effusion examination. During the prenatal period, all causes leading to hydrops fetalis should be considered in the diagnosis of PL. Fetal ultrasound evaluation plays a key role in the antenatal diagnosis of PL. At birth, mechanical ventilation and pleural drainage are nearly always necessary to obtain a favorable outcome of respiratory distress. Home supplemental oxygen therapy and symptomatic treatment of recurrent cough and wheeze are often necessary during childhood, sometimes associated with prolonged pleural drainage. Recent advances in intensive neonatal care have changed the previously nearly fatal outcome of PL at birth. Patients affected by PL who survive infancy, present medical problems which are characteristic of chronic lung disease.

  2. Congenital Triangular Alopecia.

    Science.gov (United States)

    Yin Li, Vincent Chum; Yesudian, Paul Devakar

    2015-01-01

    Congenital triangular alopecia (CTA) also known as temporal triangular alopecia is a benign noncicatricial pattern of hair loss. It typically affects the frontotemporal region and rarely involves the temporoparietal or occipital scalp. It is a nonprogressive disorder that presents as a triangular, oval or lancet-shaped patch of alopecia. CTA can manifest at birth or develop later in life. The exact etiology of this condition remains unknown. Rarely, it may be associated with other disorders such as Down's syndrome and phakomatosis pigmentovascularis. The diagnosis is based on its distinct clinical appearance. Histologically, hair follicles are miniaturized and replaced by sparse vellus hair follicles. Tricoscopy using a polarized light handheld dermatoscope can be a useful diagnostic tool. CTA is often asymptomatic and remains unchanged throughout the life. No treatment is required. Surgical intervention with follicular unit hair transplantation can provide a satisfactory cosmetic result. In this paper, we have identified 126 cases of CTA in the published literature cited on PubMed between 1905 and 2015. From the available evidence, 79% of patients with CTA presented with unilateral hair loss, 18.5% with bilateral involvement and rarely, with occipital alopecia (2.5%). There was no gender predilection. These figures are entirely consistent with previously published data. Physicians should remember to consider CTA as a potential diagnosis in any patient presenting with a nonscarring alopecia in order to avoid unnecessary investigations and treatments. PMID:26180448

  3. Congenital parotid fistula

    Directory of Open Access Journals (Sweden)

    Shiggaon Natasha

    2014-01-01

    Full Text Available Parotid fistula is a cause of great distress and embarrassment to the patient. Parotid fistula is most commonly a post-traumatic situation. Congenital parotid salivary fistulas are unusual entities that can arise from accessory parotid glands or even more infrequently, from normal parotid glands through an aberrant Stensen′s duct. The treatment of fistulous tract is usually surgical and can be successfully excised after making a skin incision along the skin tension line around the fistula opening. This report describes a case of right accessory parotid gland fistula of a 4-year-old boy with discharge of pus from right cheek. Computed tomography (CT fistulography and CT sialography demonstrated fistulous tract arising from accessory parotid gland. Both CT fistulography and CT sialography are very helpful in the diagnosis and surgical planning. In this case, superficial parotidectomy is the treatment of choice. A detailed history, clinical and functional examination, proper salivary gland investigations facilitates in correct diagnosis followed by immediate surgical intervention helps us to restore physical, psychological health of the child patient.

  4. Congenital parotid fistula.

    Science.gov (United States)

    Natasha, Shiggaon

    2014-01-01

    Parotid fistula is a cause of great distress and embarrassment to the patient. Parotid fistula is most commonly a post-traumatic situation. Congenital parotid salivary fistulas are unusual entities that can arise from accessory parotid glands or even more infrequently, from normal parotid glands through an aberrant Stensen's duct. The treatment of fistulous tract is usually surgical and can be successfully excised after making a skin incision along the skin tension line around the fistula opening. This report describes a case of right accessory parotid gland fistula of a 4-year-old boy with discharge of pus from right cheek. Computed tomography (CT) fistulography and CT sialography demonstrated fistulous tract arising from accessory parotid gland. Both CT fistulography and CT sialography are very helpful in the diagnosis and surgical planning. In this case, superficial parotidectomy is the treatment of choice. A detailed history, clinical and functional examination, proper salivary gland investigations facilitates in correct diagnosis followed by immediate surgical intervention helps us to restore physical, psychological health of the child patient. PMID:25231049

  5. Congenital hypothyroidism in neonates

    Directory of Open Access Journals (Sweden)

    Aneela Anjum

    2014-01-01

    Full Text Available Context: Congenital hypothyroidism (CH is one of the most common preventable causes of mental retardation in children and it occurs in approximately 1:2,000-1:4,000 newborns. Aims and Objectives: The aim of this study is to determine the frequency of CH in neonates. Settings and Design: This cross-sectional study was conducted in neonatal units of the Department of Pediatrics Unit-I, King Edward Medical University/Mayo Hospital, Lahore and Lady Willington Hospital Lahore in 6 months (January-June 2011. Materials and Methods: Sample was collected by non-probability purposive sampling. After consent, 550 newborn were registered for the study. Demographic data and relevant history was recorded. After aseptic measures, 2-3 ml venous blood analyzed for thyroid-stimulating hormone (TSH level by immunoradiometric assay. Treatment was started according to the individual merit as per protocol. Statistical Analysis Used: Data was analyzed by SPSS 17 and Chi-square test was applied to find out the association of CH with different variables. Results: The study population consisted of 550 newborns. Among 550 newborns, 4 (0.8% newborns had elevated TSH level. CH had statistically significant association with mother′s hypothyroidism (P value 0.000 and mother′s drug intake during the pregnancy period (P value 0.013. Conclusion: CH is 0.8% in neonates. It has statistically significant association with mother′s hypothyroidism and mother′s drug intake during pregnancy.

  6. Development of the adrenal axis in the neonatal rat

    Energy Technology Data Exchange (ETDEWEB)

    Guillet, Ronnie

    1977-01-01

    Plasma corticosterone and ACTH concentrations were determined in neonatal rats 1, 7, 14, and 21 days old, under a variety of experimental conditions, to obtain more information on the postnatal development of the rat hypothalamo-adrenal (HHA) axis. The results indicate that: (1) there is a diminution followed by an increase in responsiveness of the adrenal gland, but the pituitary response to direct hormonal stimulation is unchanged during the first three postnatal weeks; (2) continued stimulation of the adrenal by ACTH or of the central nervous system (CNS) or hypothalamus by corticosterone is necessary during early postnatal development to allow normal maturation of the HHA axis; and (3) feedback inhibition is operative by birth, at least to a moderate degree. Taken together, the studies suggest that both the adrenal and pituitary glands are potentially functional at birth, but that the hypothalamic and CNS mediators of the stress response are not mature until at least the second or third postnatal week. (ERB)

  7. Fever and Stoffer's syndrome in renal and adrenal tumors

    International Nuclear Information System (INIS)

    Clinical observations of patients with renal and adrenal tumours are presented. Fever and Stoffer's syndrome are the main symptoms. Radioisotope studies, as well as tomography and urography permitted to make precise diagnosis, which is confirmed histologically

  8. Volume of the adrenal and pituitary glands in depression

    DEFF Research Database (Denmark)

    Kessing, Lars Vedel; Willer, Inge Stoel; Knorr, Ulla

    2011-01-01

    Numerous studies have shown that the hypothalamic-pituitary-adrenal (HPA) axis is hyperactive in some depressed patients. It is unclear whether such hyperactivity results in changed volumes of the adrenal glands, pituitary gland and hypothalamus. We systematically reviewed all controlled studies on...... the adrenal or pituitary glands or hypothalamus volume in unipolar depressive disorder published in PubMed 1966 to December 2009. We identified three studies that investigated the volume of the adrenal glands and eight studies that examined the volume of the pituitary gland, but no studies on...... identified such as small population samples, different subtypes of depression and insufficient matching of patients and controls. Due to large heterogeneity of study designs and data, it was futile to make a meta-analysis. It is concluded that it remains unclear whether hyperactivity of the HPA axis results...

  9. Adrenal lymphangioma: clinicopathologic and immunohistochemical characteristics of a rare lesion.

    Science.gov (United States)

    Ellis, Carla L; Banerjee, Priya; Carney, Erin; Sharma, Rajni; Netto, George J

    2011-07-01

    Adrenal lymphangiomas, also known as cystic adrenal lymphangiomas, are rare, benign vascular lesions that usually remain asymptomatic throughout life. Although previously adrenal lymphangioma lesions were primarily found at autopsy, they are currently detected during imaging work-up for unrelated causes and are likely to imitate other adrenocortical or adrenal medullary neoplasms. We aimed to retrospectively review all adrenal lymphangioma cases at our hospital and further document their lymphatic origin by immunohistochemical staining. A search of surgical pathology records (1984-2008) was conducted. All hematoxylin and eosin sections were retrieved from archives and reviewed by 2 pathologists in the study. Clinical information was gathered from electronic medical records. Representative paraffin-embedded sections from each case were selected for immunohistochemical analysis using monoclonal antibodies D2-40 and AE1/AE3. A total of 9 adrenal lymphangioma cases were identified (6 women and 3 men). All 9 patients were adults at time of diagnosis with a mean age of 42 years (range, 28-56 years). There were 7 white patients, 1 African American patient, and 1 Asian patient. The average size of an adrenal lymphangioma lesion was 4.9 cm (range, 2.0-13.5 cm). Adrenal lymphangioma was twice more frequently located on the right side (6 right-sided and 3 left-sided). Clinically, 4 (44%) of the 9 lesions presented with abdominal, flank, or back pain. One lymphangioma was found during work-up for labile hypertension. The remaining 4 lesions (44%) were asymptomatic and incidentally found during imaging studies for unrelated causes. Surgical removal was achieved by total adrenalectomy in 8 of the 9 lesions and by partial adrenalectomy in the remaining case. No evidence of recurrence or development of a contralateral lesion was encountered in any of the patients. Histologically, our adrenal lymphangiomas showed a typical multicystic architecture with dilated spaces lined by

  10. A case series of two cases of juxta-adrenal schwannoma presenting as adrenal mass lesion and review of the literature

    OpenAIRE

    Shivashankar Damodaran; Griffin Mahimairaj; Kamaraj Velaichamy

    2015-01-01

    Schwannomas are rare tumors in the retroperitoneal location. They can pose a diagnostic dilemma when presenting as an adrenal mass lesion due to their imaging characteristics. We report two cases of juxta-adrenal schwannomas presenting as symptomatic adrenal mass lesions. In both the cases, the clinical examination and functional evaluation was unremarkable and the radiological examination revealed a mixed intense adrenal mass lesion in one case with predominantly hyperintense areas and a ver...

  11. Diagnostic dilemmas in enlarged and diffusely hemorrhagic adrenal glands.

    Science.gov (United States)

    Diolombi, Mairo L; Khani, Francesca; Epstein, Jonathan I

    2016-07-01

    We have noted an increasing number of cases of enlarged adrenal glands where the underlying diagnosis was masked by a diffusely hemorrhagic process. We identified from our database 59 cases (32 consults, 27 routine) of adrenal glands with diffuse (>25%) hemorrhage received between 2000 and 2014. Fifty-three adrenalectomies and 6 biopsies were identified. The diagnoses after central review were 41 adrenocortical adenomas, 1 nodular adrenocortical hyperplasia with associated myelolipoma, 1 benign adrenocortical cyst, and 10 nonneoplastic adrenal glands with hemorrhage. A definitive diagnosis for the 6 biopsies was precluded by the sample size. The adrenocortical adenomas (size, 1-13 cm; 25%-95% hemorrhage) showed clear cell change in the neoplastic area (10%-80% of the tumor), 19 showed focal calcification (1 with ossification), 11 showed areas of papillary endothelial hyperplasia, 10 showed scattered lymphoplasmacytic inflammation, 6 showed benign cortical tissue extending beyond the adrenal capsule into soft tissue, 1 showed necrosis in the form of ghost cells, 2 showed lipomatous change, and 6 were associated with incidental benign lesions (1 cortical cyst, 1 schwannoma, and 4 myelolipomas). Twenty-four of the adrenocortical adenomas were consults where the referring pathologist had trouble classifying the lesion. Of the 10 nonneoplastic adrenals (4.5-22 cm; 40%-80% hemorrhage), 2 were consults. In summary, pathologists have difficulties recognizing adrenocortical adenomas in the setting of a massively enlarged and hemorrhagic adrenal gland. Although there is a correlation between adrenocortical malignancy and size, hemorrhage into nonmalignant adrenal glands can result in markedly enlarged adrenals. PMID:27001431

  12. Stage 4S Bilateral Adrenal Neuroblastoma in a Newborn

    Directory of Open Access Journals (Sweden)

    Rahul Gupta

    2014-02-01

    Full Text Available Stage 4S bilateral adrenal neuroblastoma presenting in the neonatal period is extremely rare. A 1-day-old male with 4S bilateral adrenal neuroblastoma complicated by marked hepatomegaly managed by chemotherapy is being reported. The provisional diagnosis of neuroblastoma was made in the fetal life during the last trimester of pregnancy. Cardiomyopathy due to doxorubicin cytotoxicity developed over ensuing years, which is being treated.

  13. Adrenal Incidentalomas in Taiwan: High Prevalence and Malignancy Rate

    Directory of Open Access Journals (Sweden)

    Chih-Ching Wang

    2003-01-01

    Full Text Available Background: The endocrine adrenal gland has 3 zones comprised of the cortex and medulla.The character of multi-hormonal expression results in multiple clinicalmanifestations. To define the clinical characteristics of adrenal tumors inTaiwan, we reviewed 336 pathologically proven adrenal tumors at ChangGung Memorial Hospital in Linkou.Methods: We retrospectively analyzed 258 pathologically proven adrenal tumors withsufficient data treated from 1983 to 2000. Among them, 174 (67% werefunctional and 84 (33% were nonfunctional. The diagnosis was based onclinical features, hormonal status, imaging studies, and pathology.Results: Of the 258 patients, 161 were women (mean age, 38.5¡ 15.4; range, 1-75years and 97 men (mean age, 41.6¡ 17.8; range, 1-81 years. The prevalenceof cortical tumors was much higher in females than in males. Fifty-twopercent of patients with an adrenal tumor were diagnosed at an age between30 and 50 years. Incidentalomas (N=84 accounted for about 1/3 of totaltumor cases. Of the 46 cases proven to be malignant, 40 (87% were foundincidentally. All malignant tumors had a diameter of greater than 3 cm.Postoperative adrenal insufficiency was present in 18% of cases, and overallmortality in this study was 0.4%.Conclusions: In our series, adrenal incidentalomas corresponded to about 1/3 of adrenaltumors and accounted for 87% of malignancies. It is mandatory to increasemedical attention for incidentally found adrenal masses in Taiwan. Thoseincidentalomas with a diameter of more than 3 cm should undergo a pathologicalexamination.

  14. Is Adrenal Exhaustion Synonym of Syndrome Burnout at Workplace?

    OpenAIRE

    Pranjić, Nurka; Nuhbegović, Sabina; Brekalo-Lazarević, Sanja; Kurtić, Azra

    2012-01-01

    The objective of this study is the assessment of the association of burnout syndrome with adrenal exhaustion specific symptoms and signs among 116 patients who were exposed to violence or mobbing at workplace and who were treated during 2005 to 2008 in Department of Occupational Pathology and Toxicology Tuzla; to detect symptoms and signs of adrenal exhaustion differences between patients who were exposed to act of violence as acute catastrophic event and patients who were long – term exposed...

  15. Giant adrenal myelolipoma with hemorrhage masquerading as retroperitoneal sarcoma

    OpenAIRE

    Chakrabarti, Indranil; Ghosh, Nilanjana; Das, Vaswati

    2012-01-01

    Adrenal myelolipomas are functionally inactive, rare adrenal tumors which are usually small in size and are discovered incidentally. Giant symptomatic myelolipomas have rarely been reported in medical literature. Here, we describe the case of a 40-year-old female patient who presented to the surgical outpatient department with left flank pain. An ultrasonogram of the abdomen suggested a large retroperitoneal tumor which was then surgically resected. Histopathological examination of the resect...

  16. Microscopic anatomy of the baboon (Papio hamadryas) adrenal medulla.

    OpenAIRE

    al-Lami, F; Carmichael, S W

    1991-01-01

    Adrenal medullas of 2 baboons perfused with formaldehyde/glutaraldehyde and tannic acid were studied by light and electron microscopy. Tissues were postfixed in OsO4. This procedure allows identification of noradrenaline cells on the basis of a selective reaction of glutaraldehyde with noradrenaline vesicles. As positive control for noradrenaline cells, similarly treated mouse adrenal medullas were also examined. Light microscopic examination of thick sections of baboon medullas did not show ...

  17. Successful vaginal delivery following spontaneous adrenal haemorrhage at term.

    Science.gov (United States)

    Street, Sally; Dekker Nitert, Marloes; Callaway, Leonie K

    2016-01-01

    Spontaneous adrenal haemorrhage (SAH) is a rare event in the general population, estimated to be around 0.3-1.8%. The exact incidence in pregnancy is unknown but rare. Most cases of SAH at or near term have presented with massive haemorrhage and haemodynamic instability, requiring emergency caesarean delivery or intrauterine fetal death. This is the first reported case of a successful vaginal delivery after acute, spontaneous, left adrenal haemorrhage at term. PMID:27190116

  18. Giant Mature Adrenal Cystic Teratoma in an Infant

    OpenAIRE

    Ciftci, Ilhan; Cihan, Tugba; Koksal, Yavuz; Ugras, Serdar; Erol, Cengiz

    2013-01-01

    CONFLICT OF INTEREST: NONE DECLARED Introduction Teratomas are derived from embryonic tissues that are typically found in the gonadal and sacrococcygeal regions of adults and children. Primary teratomas in the retroperitoneum are very rare in infant and primary adrenal teratomas are extremely rare. Early diagnosis and surgical resection are important for effective treatment. Case report We report here the case of a histologically unusual adrenal teratomas detected on computed tomography durin...

  19. Bilateral adrenal masses: a single-centre experience

    Science.gov (United States)

    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) (PAI) (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

  20. Mielolipoma, una lesión quirúrgica poco frecuente de la glándula adrenal Myelolipoma, an infrequent surgical lesion of the adrenal gland

    Directory of Open Access Journals (Sweden)

    Humberto Álvarez-Pertuz

    2008-03-01

    Full Text Available El mielolipoma es un tumor benigno poco frecuente, compuesto de tejido adiposo maduro y elementos hematopoyéticos diversos, histológicamente similares a la médula ósea normal. Estos tumores se pueden localizar comúnmente en las glándulas adrenales, pero también en sitios extra adrenales. Puede encontrarse como tumor único o múltiple, y es hormonalmente inactivo.¹ El origen del mielolipoma es desconocido y se han propuesto varias teorías. Los mielolipomas muestran una gran variedad de manifestaciones clínicas, tales como: sangrado digestivo, hematuria, dolor abdominal en los flancos, masa abdominal y pérdida de peso, entre otras. La incidencia de estos tumores en autopsias es del 0,08 al 0,2 %, gracias al US, la TAC y la RM, su hallazgo es mas frecuente hoy.² El diagnóstico es generalmente por exclusión, habiéndose descartado otras entidades suprarrenales. Entre los métodos diagnósticos figuran: la TAC, el US y la RM. La resección quirúrgica es el tratamiento de elección, cuando haya sintomatología; de lo contrario, un manejo conservador con controles periódicos del paciente será más que suficiente.³ Se presenta el caso de una paciente de 55 años, hipertensa, obesa y con un trastorno depresivo-ansioso, quien consultó por dolor abdominal, náuseas y vómitos.Myelolipoma is a non functioning benign tumor of the adrenal gland which is formed by hematopoietic and adipose tissue. The tumor was first described by Gierke in 1905, and named by Oberling in 1929. Most series consist of myelolipomas discovered incidentally at autopsy. They are generally located in the adrenal gland, although they can occur in other organs. Endocrine and/or metabolic disorders associated with AML include obesity, Type II Diabetes, congenital adrenal hyperplasia due to 21 or 17 alpha-hydroxylase deficiency, Cushing’s disease, Conn’s syndrome, pheochromocytoma and polycystic ovarian disease. Myelolipomas are asymptomatic, but they may cause

  1. Imaging presentation of adrenal glands in female pseudohermaphroditism

    Institute of Scientific and Technical Information of China (English)

    WANG Jian; JIANG Tao; HAN Xi-nian; LIU Guang-hua

    2006-01-01

    Objective: To discuss imaging features of the adrenal glands in female pseudohermaphroditism. Methods: 11 cases of female pseudohermaphroditism (8-27 years old) were analyzed retrospectively. Results: In 9 of the 11 patients with female pseudohermaphroditism who did no receive hormone replacement therapy, both internal and external branches of ilateral adrenal glands were found to be thickened, prolonged and twisted, and in 2 of the 9 patients they were found to be macronodularly hyperplasic. In one of the remaining two patients who had received long-term hormone replacement therapy, the adrenal glands were not thickened or twisted, though prolonged; and in the other patient imaging presentation of the adrenal glands was the same as that of those who did not receive hormone replacement therapy, but with co-existence of adrenal myelolipoma. Among the 11 patients agenesis of the uterus and the vagina was found in 4 cases. Conclusion: Female pseudohermaphroditism is a hereditary disease,where hyperplasia of the adrenal glands and agenesis of the uterus and the vagina were secondary. Early detection of these abnormalities by imageology would prove to be helpful in early detection and treatment of the condition.

  2. Chronic ethanol consumption decreases adrenal responsiveness to adrenocorticotropin (ACTH) stimulation

    International Nuclear Information System (INIS)

    Increased alcohol consumption by adolescents and teenagers has heightened awareness of potential endocrine and developmental alterations. The current study was designed to determine whether chronic ethanol intake alters pituitary and adrenal function in the developing rat. One month old male Sprague Dawley rats were administered 6% ethanol in drinking water. After one month of treatment animals were sacrificed and blood, pituitary and adrenal glands collected. Plasma was assayed for ACTH and corticosterone (CS) by radioimmunossay (RIA). Five anterior pituitary glands per group were challenged with 100 μM corticotropin releasing factor (CRF) for 90 min at 37C under 95% air / 5% CO2. Media were analyzed for either ACTH (pituitary) or CS (adrenal) by RIA. Plasma ACTH and CS were unaffected by ethanol consumption. Pituitary response to CRF was not altered by ethanol. The lack of difference in ACTH release was not due to differences in pituitary content of ACTH. However, chronic ethanol consumption did decrease adrenal responsiveness to ACTH stimulation. In vitro corticosterone production was 1.21 ± 0.14 μg/adrenal in controls and 0.70 ± 0.06 μg/adrenal in ethanol consuming rats

  3. Standards of ultrasound imaging of the adrenal glands

    Science.gov (United States)

    Jakubowski, Wiesław S.; Dobruch-Sobczak, Katarzyna; Kasperlik-Załuska, Anna A.

    2015-01-01

    Adrenal glands are paired endocrine glands located over the upper renal poles. Adrenal pathologies have various clinical presentations. They can coexist with the hyperfunction of individual cortical zones or the medulla, insufficiency of the adrenal cortex or retained normal hormonal function. The most common adrenal masses are tumors incidentally detected in imaging examinations (ultrasound, tomography, magnetic resonance imaging), referred to as incidentalomas. They include a range of histopathological entities but cortical adenomas without hormonal hyperfunction are the most common. Each abdominal ultrasound scan of a child or adult should include the assessment of the suprarenal areas. If a previously non-reported, incidental solid focal lesion exceeding 1 cm (incidentaloma) is detected in the suprarenal area, computed tomography or magnetic resonance imaging should be conducted to confirm its presence and for differentiation and the tumor functional status should be determined. Ultrasound imaging is also used to monitor adrenal incidentaloma that is not eligible for a surgery. The paper presents recommendations concerning the performance and assessment of ultrasound examinations of the adrenal glands and their pathological lesions. The article includes new ultrasound techniques, such as tissue harmonic imaging, spatial compound imaging, three-dimensional ultrasound, elastography, contrast-enhanced ultrasound and parametric imaging. The guidelines presented above are consistent with the recommendations of the Polish Ultrasound Society. PMID:26807295

  4. Neural plasticity occurs in the adrenal medulla of asthmatic rats

    Institute of Scientific and Technical Information of China (English)

    FENG Jun-tao; LI Xiao-zhao; HU Cheng-ping; WANG Jun; NIE Hua-ping

    2010-01-01

    Background Airway symptoms in asthma are related to decrease of epinephrine secretion, which may be ascribed to elevated nerve growth factor (NGF) in the organism.The aim of this study was to monitor the neuroendocrine alteration in the adrenal medulla of asthmatic rats.Methods Sixteen rats were randomly divided into two groups (n=8), control group and asthma group, and the asthmatic rats were sensitized and challenged with ovalbumin (OVA).The levels of NGF, epinephrine and norepinephrine in serum were detected by enzyme linked immunosorbent assay (ELISA), the NGF expression in adrenal medulla was detected by immunohistochemistry, and the changes in the ultrastructure of the adrenal medulla was observed by electron microscopy.Results The NGF expression was increased in asthmatic rats compared with control rats.Compared with control rats,the results indicated that the epinephrine level was decreased in asthmatic rats, but no significant difference was found in norepinephrine levels.We found more ganglion cells in the adrenal medulla of asthmatic rats than in control rats, with NGF immunostaining mainly located in these ganglion cells.Electron microscopic images showed the density of chromaffin granula decreased and there was shrunken nucleolemma in the adrenal medullary cells of asthmatic rats.Conclusion The innervation of the adrenal medulla is changed in asthmatic rats, and it may contribute to the epinephrine decrease in asthma.

  5. Percutaneous interstitial brachytherapy for adrenal metastasis. Technical report

    International Nuclear Information System (INIS)

    We developed and evaluated the feasibility of a brachytherapy technique as a safe and effective treatment for adrenal metastasis. Adapting a paravertebral insertion technique in radiofrequency ablation of adrenal tumors, we developed an interstitial brachytherapy for adrenal metastasis achievable on an outpatient basis. Under local anesthesia and under X-ray CT guidance, brachytherapy applicator needles were percutaneously inserted into the target. A treatment plan was created to eradicate the tumor while preserving normal organs including the spinal cord and kidney. We applied this interstitial brachytherapy technique to two patients: one who developed adrenal metastasis as the third recurrence of uterine cervical cancer after reirradiation, and one who developed metachronous multiple metastases from malignant melanoma. The whole procedure was completed in 2.5 hours. There were no procedure-related or radiation-related early/late complications. 18F-fluorodeoxyglucose positron emission tomography (FDG PET)-CT images at two and three months after treatment showed absence of FDG uptake, and no recurrence of the adrenal tumor was observed for over seven months until expiration, and for six months until the present, respectively. This interventional interstitial brachytherapy procedure may be useful as a safe and eradicative treatment for adrenal metastasis. (author)

  6. Lectures on Classical Integrability

    CERN Document Server

    Torrielli, Alessandro

    2016-01-01

    We review some essential aspects of classically integrable systems. The detailed outline of the lectures consists of: 1. Introduction and motivation, with historical remarks; 2. Liouville theorem and action-angle variables, with examples (harmonic oscillator, Kepler problem); 3. Algebraic tools: Lax pairs, monodromy and transfer matrices, classical r-matrices and exchange relations, non-ultralocal Poisson brackets, with examples (non-linear Schroedinger model, principal chiral field); 4. Features of classical r-matrices: Belavin-Drinfeld theorems, analyticity properties, and lift of the classical structures to quantum groups; 5. Classical inverse scattering method to solve integrable differential equations: soliton solutions, spectral properties and the Gel'fand-Levitan-Marchenko equation, with examples (KdV equation, Sine-Gordon model). Prepared for the Durham Young Researchers Integrability School, organised by the GATIS network. This is part of a collection of lecture notes.

  7. Cyanotic congenital heart disease

    Energy Technology Data Exchange (ETDEWEB)

    Yeon, Kyung Mo; Yoo, Shi Joon; Han, Man Chung; Hong, Chang Yee; Lee, Yung Kyoon [Seoul National University College of Medicine, Seoul (Korea, Republic of)

    1979-12-15

    Authors analyzed 265 cases of cyanotic congenital heart disease in which cardiac catheterization and angiocardiography were done at the Department of Radiology, Seoul National University Hospital between April 1973 and August 1979. The results are as follows; 1. Among 265 cases, 178 patients were male and 87 patients were female. 240 patients were below the age of 20 and none was over 35 year. 2. The incidence of individual lesions are as follows: tetralogy of Fallot-176; double outlet right ventricle-20; pentalogy-12; trilogy-11; corrected transposition of great arteries-10; complete transposition of great arteries-8; pulmonary atresia-7; single ventricle-6; Ebstein's anomaly-5; total anomalous pulmonary venous return-4; tricuspid atresia-3; double outlet left ventricle-1; truncus arteriosus-1; hypoplastic left ventricle-1. 3. Fallot's teralogy, pentalogy and trilogy were characteristic in their simple chest and angiocardiographic manifestations, but in a few cases of tetralogy and pentalogy it was difficult to differentiate them from double outlet right ventricle or pulmonary atresia. 4. In double outlet right ventricle and transposition of great arteries which are the pathologic spectrum resulting from abnormal conal growth, differential points were ventricular and great arterial loop patterns and their connections but it was very difficult to differentiate them from each other by single injection into one ventricle alone. 5. Ebstein's anomaly and total anomalous pulmonary venous return were so characteristic in angiocardiography was done ventriculography alone. 6. In 7 cases with double outlet right ventricle and transposition of great arteries, selective biventriculography was done and more accurate diagnosis could be made, which was quite difficult with one ventriculography alone. In 31 cases, cineangiocardiography was done and it gave more accurate information about the type and degree of pulmonary stenosis and overriding of aorta, the origin

  8. Cyanotic congenital heart disease

    International Nuclear Information System (INIS)

    Authors analyzed 265 cases of cyanotic congenital heart disease in which cardiac catheterization and angiocardiography were done at the Department of Radiology, Seoul National University Hospital between April 1973 and August 1979. The results are as follows; 1. Among 265 cases, 178 patients were male and 87 patients were female. 240 patients were below the age of 20 and none was over 35 year. 2. The incidence of individual lesions are as follows: tetralogy of Fallot-176; double outlet right ventricle-20; pentalogy-12; trilogy-11; corrected transposition of great arteries-10; complete transposition of great arteries-8; pulmonary atresia-7; single ventricle-6; Ebstein's anomaly-5; total anomalous pulmonary venous return-4; tricuspid atresia-3; double outlet left ventricle-1; truncus arteriosus-1; hypoplastic left ventricle-1. 3. Fallot's teralogy, pentalogy and trilogy were characteristic in their simple chest and angiocardiographic manifestations, but in a few cases of tetralogy and pentalogy it was difficult to differentiate them from double outlet right ventricle or pulmonary atresia. 4. In double outlet right ventricle and transposition of great arteries which are the pathologic spectrum resulting from abnormal conal growth, differential points were ventricular and great arterial loop patterns and their connections but it was very difficult to differentiate them from each other by single injection into one ventricle alone. 5. Ebstein's anomaly and total anomalous pulmonary venous return were so characteristic in angiocardiography was done ventriculography alone. 6. In 7 cases with double outlet right ventricle and transposition of great arteries, selective biventriculography was done and more accurate diagnosis could be made, which was quite difficult with one ventriculography alone. In 31 cases, cineangiocardiography was done and it gave more accurate information about the type and degree of pulmonary stenosis and overriding of aorta, the origin of great

  9. Genetics Home Reference: giant congenital melanocytic nevus

    Science.gov (United States)

    ... mutation in large congenital melanocytic nevi. J Invest Dermatol. 2014 Apr;134(4):1067-74. doi: 10. ... applied to giant congenital melanocytic nevi. J Invest Dermatol. 2014 Apr;134(4):879-82. doi: 10. ...

  10. Genetics Home Reference: congenital dyserythropoietic anemia

    Science.gov (United States)

    ... Understand Genetics Home Health Conditions CDA congenital dyserythropoietic anemia Enable Javascript to view the expand/collapse boxes. ... PDF Open All Close All Description Congenital dyserythropoietic anemia ( CDA ) is an inherited blood disorder that affects ...

  11. Genetic Counseling for Congenital Heart Defects

    Science.gov (United States)

    ... High Blood Pressure Tools & Resources Stroke More Genetic Counseling for Congenital Heart Defects Updated:Oct 26,2015 ... with congenital heart disease considers having children. Genetic counseling can help answer these questions and address your ...

  12. [The congenital afibrinogenemia: case report].

    Science.gov (United States)

    Brahem, Imen; Charfeddine, Bassem; Chraiti, Haythem; Ben Abdallah, Jihene; Ben Othmen, Leila; Neffati, Souhir; Ali Smach, Mohamed; Ltaief, Affef; Ksourri, Monia; Dridi, Hedi; Limem, Khalifa

    2010-01-01

    The deficiency in factor I or fibrinogen is a largely unknown genetic disease. It is a rare condition inherited as an autosomal recessive, whose clinical events are variable, ranging from moderate to minimal bleeding or cataclysmic hemorrhage. We report a case of congenital afibrinogenemia in a 17 years-old patient hospitalized in surgical ICU for hemoperitoneum medium abundance discovered by abdominal ultrasound performed before a picture of abdominopelvic pain lasting for 24 hours. Exploration led to the diagnosis of congenital afibrinogenemia with favorable evolution with a contribution of factor deficient. Through this case we raise the problem of congenital afibrinogenemia in diagnosis and the peculiarities of its management. PMID:20870582

  13. Grassmannians of classical buildings

    CERN Document Server

    Pankov, Mark

    2010-01-01

    Buildings are combinatorial constructions successfully exploited to study groups of various types. The vertex set of a building can be naturally decomposed into subsets called Grassmannians. The book contains both classical and more recent results on Grassmannians of buildings of classical types. It gives a modern interpretation of some classical results from the geometry of linear groups. The presented methods are applied to some geometric constructions non-related to buildings - Grassmannians of infinite-dimensional vector spaces and the sets of conjugate linear involutions. The book is self

  14. Davidson and classical pragmatism

    Directory of Open Access Journals (Sweden)

    Paula Rossi

    2007-06-01

    Full Text Available In this paper I wish to trace some connections between Donald Davidson's work (1917-2003 and two major representatives of the classical pragmatist movement: Charles S. Peirce (1839-1914 and William James (1842-1910. I will start with a basic characterization of classical pragmatism; then, I shall examine certain conceptions in Peirce's and James' pragmatism, in order to establish affinities with Davidson´s thought. Finally, and bearing in mind the previous con-nections, I will reflect briefly on the relevance –often unrecognized- of classical pragmatist ideas in the context of contemporary philosophi-cal discussions.

  15. Congenital granular-cell myoblastoma.

    Science.gov (United States)

    Cussen, L J; MacMahon, R A

    1975-04-01

    The clinical and pathologic features of congenital granular-cell myoblastoma in five infant girls are reported. One lesion, treated expectantly, progressively decreased in size and after 3 yr and 9 mo could not be detected, while two lesions which were imcompletely excised did not recur. It is suggested that congenital granular-cell myoblastoma is caused by an intrauterine stimulus, and that this stimulus may possible be production of estrogen by the fetus. Congential granular-cell myoblastoma should be treated expectantly or by limited excision, and has an excellent prognosis. PMID:164527

  16. MRI of congenital urethroperineal fistula

    Energy Technology Data Exchange (ETDEWEB)

    Ghadimi-Mahani, Maryam; Dillman, Jonathan R.; Pai, Deepa; DiPietro, Michael [C. S. Mott Children' s Hospital, Department of Radiology, Section of Pediatric Radiology, University of Michigan Health System, Ann Arbor, MI (United States); Park, John [C. S. Mott Children' s Hospital, Department of Pediatric Urology, University of Michigan Health System, Ann Arbor, MI (United States)

    2010-12-15

    We present the MRI features of a congenital urethroperineal fistula diagnosed in a 12-year-old boy being evaluated after a single urinary tract infection. This diagnosis was initially suggested by voiding cystourethrogram and confirmed by MRI. Imaging revealed an abnormal fluid-filled tract arising from the posterior urethra and tracking to the perineal skin surface that increased in size during micturition. Surgical resection and histopathological evaluation of the abnormal tract confirmed the diagnosis of congenital urethroperineal fistula. MRI played important roles in confirming the diagnosis and assisting surgical planning. (orig.)

  17. On diagnosis of congenital toxoplasmosis

    International Nuclear Information System (INIS)

    Chemical manifestations are considered and CT-semiotics of congenital toxoplasmosis, which can form intracranial calcinates, is described. Taking a certain case of congenital toxoplasmosis observation as an example the potentialities and significance of X-ray computerized tomography (CT) in the identification of brain pathological changes are demonstrated. It is shown that intracranial calcificates may be a sign of toxoplasmosis infection. In case of cytomegalovirus infection the calcificates on CT-scans have mostly periventricular localization. Equally with the revealing of brain status in case of chronic stage of neutrotoxoplasmosis the CT has also played a decisive role in diagnosis of pseudotumoroseus course of ischemic insult

  18. Computed tomography of adrenal Cushing's adenoma

    International Nuclear Information System (INIS)

    CT findings of 22 patients with surgically confirmed adrenal Cushing's adenomas were compared with pathologic findings. The cut surfaces of the adenomas showed mixture of yellow and brown areas in various proportions and were classified into three patterns; speckled brown areas in yellow background, geometrically brown areas in yellow background, totally brown or black surface. The maximum diameters of the cut surfaces were measured. The CT appearances of Cushing's adenomas after intravenous contrast administration have various patterns of enhancement and classified into three patterns; speckled, geometrical, and homoenous. The maximum diameters of the adenomas in CT images were also measured. Correlation between the CT and gross appearances of the specimens showed that while brown areas in adenomas were strongly enhanced, yellow areas were poorly enhanced. Histologically, brown areas in adenomas consist of compact-like cells with rich intercellular space and yellow areas consist of clear-like cells with poor intercellular space. The patterns of contrast enhancement some to depend on the cell types of adenomas. Difference in the intercellular space between compact and clear-like cells may have altered the patterns of contrast enhancement. The study also revealed that predominantly brownish adenomas were smaller in size than predominantly yellowish ones. As compact-like cells which make up the brown areas in Cushing's adenoma are thought to be more active in producing and secreting steroid hormones than clear-like cells, this result suggests that clinical symptoms may appear earlier in predominantly brownish adenomas than in predominantly yellowish ones. (author)

  19. Vesicle Pools: Lessons from Adrenal Chromaffin Cells

    Directory of Open Access Journals (Sweden)

    David R Stevens

    2011-02-01

    Full Text Available The adrenal chromaffin cell serves as a model system to study fast Ca2+-dependent exocytosis. Membrane capacitance measurements in combination with Ca2+ uncaging offers a temporal resolution in the millisecond range and reveals that catecholamine release occurs in three distinct phases. Release of a readily releasable (RRP and a slowly releasable (SRP pool are followed by sustained release, due to maturation and release of vesicles which were not release-ready at the start of the stimulus. Trains of depolarizations, a more physiological stimulus, induce release from a small immediately releasable pool of vesicles residing adjacent to calcium channels, as well as from the RRP. The SRP is poorly activated by depolarization. A sequential model, in which non-releasable docked vesicles are primed to a slowly releasable state, and then further mature to the readily releasable state, has been proposed. The docked state, dependent on membrane proximity, requires SNAP-25, synaptotagmin and syntaxin. The ablation or modification of SNAP-25 and syntaxin, components of the SNARE complex, as well as of synaptotagmin, the calcium sensor, and modulators such complexins and Snapin alter the properties and/or magnitudes of different phases of release, and in particular can ablate the RRP. These results indicate that the composition of the SNARE complex and its interaction with modulatory molecules drives priming and provides a molecular basis for different pools of releasable vesicles.

  20. Outcome after surgery of congenital cataract

    OpenAIRE

    Lundvall, Anna

    2002-01-01

    The visual outcome in infants undergoing surgery for bilateral congenital cataract has improved considerably because of improved surgical methods and the realisation that early detection, allowing early cataract extraction and immediate optical correction, can prevent otherwise irreversible deprivation amblyopia. The management of unilateral congenital cataract is still of the most difficult problems in paediatric ophtalmology. In unilateral congenital cataract, interven...