WorldWideScience

Sample records for adrenal hyperplasia due

  1. 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.

  2. 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 ...

  3. 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 ...

  4. Nonclassic Congenital Adrenal Hyperplasia

    Directory of Open Access Journals (Sweden)

    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.

  5. 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

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

    Science.gov (United States)

    Yu, Hyeoh Won; Cho, Won Im; Chung, Hye Rim; Choi, Keun Hee; Yun, Sumi; Cho, Hwan Seong; Shin, Choong Ho; Yang, Sei Won

    2016-03-01

    Adrenocorticotropin-independent adrenal hyperplasias are rare diseases, which are classified into macronodular (>1 cm) and micronodular (≤1 cm) hyperplasia. Micronodular adrenal hyperplasia is subdivided into primary pigmented adrenocortical disease and a limited or nonpigmented form 'micronodular adrenocortical disease (MAD)', although considerable morphological and genetic overlap is observed between the 2 groups. We present an unusual case of a 44-month-old girl who was diagnosed with Cushing syndrome due to MAD. She had presented with spotty pigmentation on her oral mucosa, lips and conjunctivae and was diagnosed with multiple bone tumors in her femur, pelvis and skull base at the age of 8 years. Her bone tumor biopsies were compatible with osteoblastoma. This case highlights the importance of verifying the clinicopathologic correlation in Cushing syndrome and careful follow-up and screening for associated diseases. PMID:27104180

  7. 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

  8. 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.

  9. 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.

  10. 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

  11. 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...

  12. 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

  13. 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

  14. 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

  15. 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

  16. 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.

  17. Management of adolescents with congenital adrenal hyperplasia

    OpenAIRE

    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...

  18. NonClassic Congenital Adrenal Hyperplasia

    Directory of Open Access Journals (Sweden)

    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.

  19. 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...

  20. Congenital adrenal hyperplasia: Case report.

    Directory of Open Access Journals (Sweden)

    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.

  1. 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.

  2. 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

  3. 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 ...

  4. Congenital adrenal hyperplasia: Treatment and outcomes

    Directory of Open Access Journals (Sweden)

    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.

  5. 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...

  6. A Case of Congenital Lipoid Adrenal Hyperplasia

    OpenAIRE

    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...

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

    Directory of Open Access Journals (Sweden)

    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.

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

    Directory of Open Access Journals (Sweden)

    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.

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

    Science.gov (United States)

    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

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

    Energy Technology Data Exchange (ETDEWEB)

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

    2015-10-15

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

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

    International Nuclear Information System (INIS)

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

  12. 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 ...

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

    Science.gov (United States)

    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.…

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

    Directory of Open Access Journals (Sweden)

    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.

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

    Science.gov (United States)

    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

  16. 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 ...

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

    OpenAIRE

    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.

  18. 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.

  19. 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)

  20. 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

  1. 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

  2. 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.

  3. 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)

  4. 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

  5. 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

  6. Successful treatment for adrenocorticotropic hormone-independent macronodular adrenal hyperplasia with laparoscopic adrenalectomy: a case series

    OpenAIRE

    Ito Toshiki; Kurita Yutaka; Shinbo Hitoshi; Otsuka Atsushi; Furuse Hiroshi; Mugiya Soichi; Ushiyama Tomomi; Ozono Seiichiro; Oki Yutaka; Suzuki Kazuo

    2012-01-01

    Abstract Introduction Adrenocorticotropic hormone-independent macronodular adrenal hyperplasia, characterized by bilateral macronodular adrenal hypertrophy and autonomous cortisol production, is a rare cause of Cushing’s syndrome. Bilateral adrenalectomy is considered the standard treatment for adrenocorticotropic hormone-independent macronodular adrenal hyperplasia but obliges the patient to receive lifetime steroid replacement therapy subsequently, and may increase the patient’s risk of adr...

  7. 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...

  8. 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...

  9. 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 ...

  10. 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...

  11. 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.

  12. 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.

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

    Directory of Open Access Journals (Sweden)

    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.

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

    Directory of Open Access Journals (Sweden)

    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.

  15. 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.

  16. 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...

  17. 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

  18. 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.

  19. Adrenal Cortical and Medullar Hyperplasia-A Retrospective Analysis of 6 Cases

    Institute of Scientific and Technical Information of China (English)

    陈敏; 鲁功成; 张齐均

    2002-01-01

    Summary: The features of the symptoms, laboratory tests and pathological characteristics of a-drenal cortical and medullary hyperplasia were studied. In 6 cases of hypercatecholaminenia, plas-ma norepinephrine (NE), epinephrine (E), catecholamine (CA) and 24-h urinary vanillylmandelicacid (VMA), 17-hydroxycorticosteroid (OHCS) and 17-ketosteroid (KS) were determined. A-drenal glands were examined by CT scan and 131I-MIBG imaging. Pathological examination wasperformed after operation. The results showed that in 6 cases of hypercatecholaminenia (3 menand 3 women) aged from 34-50 years, the clinical features were just like "pheochromocytoma",for example, episodic headache, perspiration, palpitation, pallor, apprehension, nausea, tremor,anxiety and so on. Plasma levels of CA, NE and E were elevated in all 6 cases. 24-h urinary sam-ples obtained at the onset revealed elevated VMA in 1 case. 24-h urinary cortisol was obviously el-evated in all 6 cases. 24-h urinary 17-OHCS, 17-KS was normal. B-type ultrasound, CT, MRIand 13I-MIBG revealed 9 lateral adrenal gland diffuse or nodular enlargement in 6 cases. Patholog-ic examination showed adrenal cortical and medullary hyperplasia. Clinically, adrenal cortical andmedullary hyperplasia resembled "pheochromocytoma". The most significant feature of this dis-ease was both elevated plasma CA and 24-h urinary cortisol obviously. Pathologic examinationshowed adrenal cortex nodular hyperplasia and medullar diffuse or limit hyperplasia. Whether it isan independent disease or symptoms of the other disease has not final conclusion up till now

  20. Primary aldosteronism caused by unilateral adrenal hyperplasia: rethinking the accuracy of imaging studies.

    Science.gov (United States)

    Chen, Su-Yu; Shen, Sjen-Jung; Chou, Chien-Wen; Yang, Chwen-Yi; Cheng, Hon-Mei

    2006-03-01

    A rare type of aldosteronism, known as unilateral adrenal hyperplasia (UAH), is difficult to diagnose, not only because it fails to conform to the typical common subtypes, but also because imaging results are unreliable. We report 2 Taiwanese patients with UAH. Case 1 was a 44-year-old man with 2 episodes of hypokalemic paralysis. Hypertension and suppressed plasma renin activity (PRA) with elevated plasma aldosterone concentration (PAC) were observed. Abdominal computed tomography (CT) and magnetic resonance imaging (MRI) showed a right adrenal mass, but adrenal scintigraphy revealed no definite laterality. The patient underwent a laparoscopic right adrenalectomy. Adrenal cortical hyperplasia was discovered from results of the histologic analysis. Case 2 was a 33-year-old woman referred for hypokalemia, hypertension, and a left adrenal mass found on a CT scan. However, MRI revealed normal adrenal glands. The adrenal vein sampling for PAC showed overproduction of PAC from the left adrenal gland. A laparoscopic left adrenalectomy was done. Pathology results revealed micronodular cortical hyperplasia with central hemorrhage. Blood pressure, plasma potassium, aldosterone, and renin activity levels returned to normal after operation in both cases. Both patients have been well for 3 years and 16 months, respectively, after surgery. We review the literature and discuss the limitations of imaging studies. PMID:16599018

  1. 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.

  2. 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

  3. 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...

  4. 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...

  5. Sporadic bilateral adrenal medullary hyperplasia: apparent false positive MIBG scan and expected MRI findings

    International Nuclear Information System (INIS)

    Adrenal medullary hyperplasia is a rare cause of clinical symptoms and biochemical findings identical to pheochromocytoma occurring mostly in multiple endocrine neoplasia patients. The scenario of positive MIBG scan, but no focal lesion found on CT and MRI led to diagnostic and management difficulties. Like pheochromocytoma, surgical excision can lead to clinical and biochemical recovery. We report this unusual case of sporadic bilateral adrenal medullary hyperplasia, with hypertension and biochemical abnormalities alleviated after surgical adrenalectomy. Based on T2 values reported in literature, high signal focal lesions may not appear on T2-weighted MRI images until development of frank pheochromocytoma. MIBG scan remains the most sensitive imaging modality for this condition

  6. 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.

  7. 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.

  8. 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 ...

  9. Tablets or scalpel: Pituitary hyperplasia due to primary hypothyroidism

    Directory of Open Access Journals (Sweden)

    Ahmed Imran Siddiqi, MBBS, MRCP

    2015-01-01

    Full Text Available We describe a patient with pituitary hyperplasia due to primary hypothyroidism. Pituitary hyperplasia and pituitary masses cannot be reliably differentiated on imaging alone, despite significant improvement in imaging quality in recent years.

  10. 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.

  11. 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)

  12. 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

  13. 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

  14. 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

  15. 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...

  16. 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

  17. 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...

  18. 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...

  19. The Role of gsp Mutations on the Development of Adrenocortical Tumors and Adrenal Hyperplasia

    Science.gov (United States)

    Villares Fragoso, Maria Candida Barisson; Wanichi, Ingrid Quevedo; Cavalcante, Isadora Pontes; Mariani, Beatriz Marinho de Paula

    2016-01-01

    Somatic GNAS point mutations, commonly known as gsp mutations, are involved in the pathogenesis of McCune–Albright syndrome (MAS) and have also been described in autonomous hormone-producing tumors, such as somatotropinoma, corticotrophoma, thyroid cancer, ovarian and testicular Leydig cell tumors, and primary macronodular adrenocortical hyperplasia (PMAH) (1–3). The involvement of gsp mutations in adrenal tumors was first described by Lyons et al. Since then, several studies have detected the presence of gsp mutations in adrenal tumors, but none of them could explain its presence along or the mechanism that leads to tumor formation and hormone hypersecretion. As a result, the molecular pathogenesis of the majority of sporadic adrenocortical tumors remains unclear (3). PMAH has also been reported with gsp somatic mutations in a few cases. Fragoso et al. identified two distinct gsp somatic mutations affecting arginine residues on codon 201 of GNAS in a few patients with PMAH who lacked any features or manifestations of MAS. Followed by this discovery, other studies have continued looking for gsp mutations based on strong prior evidence demonstrating that increased cAMP signaling is sufficient for cell proliferation and cortisol production (2, 4). With consideration for the previously reported findings, we conjecture that although somatic activating mutations in GNAS are a rare molecular event, these mutations could probably be sufficient to induce the development of macronodule hyperplasia and variable cortisol secretion. In this manuscript, we revised the presence of gsp mutations associated with adrenal cortical tumors and hyperplasia. PMID:27512387

  20. 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.

  1. 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

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

    Science.gov (United States)

    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

  3. 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...

  4. Genetics of primary bilateral macronodular adrenal hyperplasia: a model for early diagnosis of Cushing's syndrome?

    Science.gov (United States)

    Drougat, Ludivine; Espiard, Stéphanie; Bertherat, Jerôme

    2015-10-01

    Long-term consequences of cortisol excess are frequent despite appropriate treatment after cure of Cushing's syndrome. This might be due to diagnostic delay, often difficult to reduce in rare diseases. The identification of a genetic predisposing factor might help to improve early diagnosis by familial screening. Primary bilateral macronodular adrenal hyperplasia (PBMAH) is a rare cause of Cushing's syndrome. Hypercortisolism in PBMAH is most often diagnosed between the fifth and sixth decades of life. The bilateral nature of the adrenocortical tumors and the occurrence of rare clear familial forms suggest a genetic origin. Indeed, a limited subset of PBMAH can be observed as part of multiple tumors syndromes due to alterations of the APC, Menin or Fumarate Hydratase genes. Rare variants of the phosphodiesterases PDE11A have been associated with PBMAH. The recent identification of ARMC5 germline alterations in 25-50% of PBMAH patients without obvious familial history or associated tumors opens new perspectives. ARMC5 alterations follow the model of a tumor suppressor gene: a first germline inactivating mutation of this 16p located gene is followed by a somatic secondary hit on the other allele (inactivating mutation or allelic loss). Functional studies demonstrate that ARMC5 controls apoptosis and steroid synthesis. The phenotype of index cases patients with the mutation seems more severe than the one of WT index cases. However, phenotype variability within a family is often observed. This review summarizes the genetics of PBMAH, focusing on ARMC5, which offer new perspectives for early diagnosis of Cushing's syndrome. PMID:26264719

  5. 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

  6. MRI evaluation of pituitary hyperplasia due to primary hypothyroidism

    International Nuclear Information System (INIS)

    Objective: To analyze the MRI manifestations of the pituitary hyperplasia due to primary hypothyroidism and to improve the differential diagnosis of secondary pituitary hyperplasia and pituitary tumors. Methods: The MRI findings of pituitary hyperplasia in 10 documented primary hypothyroidism patients (male 3, female 7; age range: 9-15 years) were reviewed. The pulse sequences using a 1.0T MR scanner included coronal and sagittal T1W, coronal T2W and coronal contrast-enhanced T1W in all patients. Results: The pituitary gland was markedly enlarged with mean height of 15.5 mm (11-23 mm). Central bulging of pituitary gland was seen in all 10 patients with mild displacement of the infundibulum in 3 and sellar enlargement in 5. All glands had homogeneous MR signal intensities and contrast enhancement. Conclusion: Pituitary hyperplasia due to primary hypothyroidism has characteristic MR features of central bulging with homogeneous signal intensities and contrast enhancement. (authors)

  7. 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

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

    Directory of Open Access Journals (Sweden)

    Valeria de Miguel

    2010-06-01

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

  9. 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.

  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. Adrenal Medullary Hyperplasia Is a Precursor Lesion for Pheochromocytoma in MEN2 Syndrome

    Directory of Open Access Journals (Sweden)

    Esther Korpershoek

    2014-10-01

    Full Text Available Adrenal medullary hyperplasias (AMHs are adrenal medullary proliferations with a size <1 cm, while larger lesions are considered as pheochromocytoma (PCC. This arbitrary distinction has been proposed decades ago, although the biological relationship between AMH and PCC has never been investigated. Both lesions are frequently diagnosed in multiple endocrine neoplasia type 2 (MEN2 patients in whom they are considered as two unrelated clinical entities. In this study, we investigated the molecular relationship between AMH and PCC in MEN2 patients. Molecular aberrations of 19 AMHs and 13 PCCs from 18 MEN2 patients were determined by rearranged during transfection (RET proto-oncogene mutation analysis and loss of heterozygosity (LOH analysis for chromosomal regions 1p13, 1p36, 3p, and 3q, genomic areas covering commonly altered regions in RET-related PCC. Identical molecular aberrations were found in all AMHs and PCCs, at similar frequencies. LOH was seen for chromosomes 1p13 in 8 of 18 (44%, 1p36 in 9 of 15 (60%, 3p12-13 in 12 of 18 (67%, and 3q23-24 in 10 of 16 (63% of AMHs, and for chromosome 1p13 in 13 of 13 (100%, 1p36 in 7 of 11 (64%, 3p12-13 in 4 of 11 (36%, and 3q23-24 in 11 of 12 (92% of PCCs. Our results indicate that AMHs are not hyperplasias and, in clinical practice, should be regarded as PCCs, which has an impact on diagnosis and treatment of MEN2 patients. We therefore propose to replace the term AMH by micro-PCC to indicate adrenal medullary proliferations of less than 1 cm.

  12. 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

  13. 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.

  14. 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.)

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

    OpenAIRE

    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.

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

    Directory of Open Access Journals (Sweden)

    Bindu Kulshreshtha

    2012-01-01

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

  17. 150 years of congenital adrenal hyperplasia: translation and commentary of De Crecchio's classic paper from 1865.

    Science.gov (United States)

    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

  18. 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.

  19. 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.).

  20. 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 ...

  1. 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...

  2. 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.)

  3. 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

  4. 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

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

    Science.gov (United States)

    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

  6. 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

  7. 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

  8. 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.

  9. 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.

  10. 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.

  11. 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

  12. 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.

  13. 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 ...

  14. 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.

  15. 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

  16. 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...

  17. Paediatric cyclical Cushing's disease due to corticotroph cell hyperplasia.

    LENUS (Irish Health Repository)

    Noctor, E

    2015-06-01

    Cushing\\'s disease is very rare in the paediatric population. Although uncommon, corticotroph hyperplasia causing Cushing\\'s syndrome has been described in the adult population, but appears to be extremely rare in children. Likewise, cyclical cortisol hypersecretion, while accounting for 15 % of adult cases of Cushing\\'s disease, has only rarely been described in the paediatric population. Here, we describe a very rare case of a 13-year old boy with cyclical cortisol hypersecretion secondary to corticotroph cell hyperplasia.

  18. 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

  19. 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

  20. 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

  1. 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

  2. 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.

  3. 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)

    OpenAIRE

    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 ...

  4. 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)

  5. 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

  6. 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.

  7. 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.

  8. Brain ultrasonographic findings of late-onset circulatory dysfunction due to adrenal insufficiency in preterm infants

    OpenAIRE

    Su-Mi Shin; Jee Won Chai

    2016-01-01

    Purpose: The aim of this study was to characterize the brain ultrasonographic findings of late-onset circulatory dysfunction (LCD) due to adrenal insufficiency (AI) in preterm infants. Methods: Among the 257 preterm infants born at

  9. Adrenal suppression due to an interaction between ritonavir and injected triamcinolone: a case report

    Directory of Open Access Journals (Sweden)

    Dort Kathryn

    2009-06-01

    Full Text Available Abstract Two HIV-1 infected patients developed signs and symptoms consistent with adrenal suppression after being exposed to intra-articular triamcinolone acetate while also receiving ritonavir as part of their highly active antiretroviral therapy. Laboratory evaluation confirmed secondary adrenal suppression in both cases. Both patients recovered without the need for chronic replacement steroids. Adrenal suppression has been described as an adverse outcome in patients treated with fluticasone and concomitant ritonavir. In the reported cases, the adrenal suppression likely developed as a result of increased systemic concentrations of triamcinolone due to an inhibition of cytochrome p450 3A4 metabolism. Practitioners of HIV medicine should be aware of the potential negative interaction of injected triamcinolone and ritonavir.

  10. 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.

  11. 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

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

    Science.gov (United States)

    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

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

    Directory of Open Access Journals (Sweden)

    Valeria de Miguel

    2010-06-01

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

  14. Addison's disease due to Histoplasma duboisii infection of the adrenal glands

    International Nuclear Information System (INIS)

    Histoplasmosis is a fungal infection caused by Histoplasma capsulatum. In the normal individual, both disseminated histoplasmosis and symptomatic adrenal histoplasmosis are rare. Herein, we describe the case of a 50-year-old gentleman residing in western Sudan who presented with 7-month history of generalized body weakness, easy fatigue and frequent attacks of vomiting and diarrhea. Physical examination and laboratory investigations confirmed the diagnosis of Addison's disease due to histoplasma capsulatum var duboisii infection of the adrenal glands. He was treated with intravenous hydrocortisone, followed by oral prednisolone and itraconazole. (author)

  15. Hiperplasia adrenal macronodular independente de ACTH (AIMAH: aspectos clínicos e moleculares Clinical and molecular aspects of the ACTH: independent bilateral macronodular adrenal hyperplasia

    Directory of Open Access Journals (Sweden)

    Sonir R. Antonini

    2004-10-01

    Full Text Available A AIMAH é caracterizada pela presença de macronódulos em ambas as adrenais, na ausência da estimulação do ACTH. Habitualmente, as manifestações clínicas aparecem somente após várias décadas de vida, provavelmente em função da baixa atividade esteroidogênica do tecido hiperplásico. Entretanto, em indivíduos assintomáticos cuja AIMAH foi descoberta acidentalmente, o eixo HHA já se encontra alterado. Estudos têm demonstrado que, na maioria dos casos de AIMAH, a secreção de cortisol é regulada de modo "aberrante" por hormônios como o GIP, AVP, catecolaminas, LH/hCG e serotonina, através de seus respectivos receptores, ectópicos ou eutópicos, porém aberrantemente acoplados à esteroidogênese. Os mecanismos moleculares responsáveis pela expressão ectópica dos receptores hormonais e/ou de seu acoplamento anormal à esteroidogênese adrenal ainda são pouco conhecidos. Embora a expressão aberrante destes receptores hormonais possa desempenhar um papel importante na iniciação da proliferação celular aumentada, bem como na esteroidogênese, é provável que eventos genéticos adicionais ocorram, envolvendo a regulação do ciclo celular, adesão e transcrição. Mutações no gene GNAS1 não associadas à síndrome de McCune-Albright podem ser encontradas em raros casos de AIMAH. Em alguns casos, a presença de receptor hormonal aberrante abre novas possibilidades de tratamento farmacológico específico do hipercortisolismo, seja isolado ou associado à adrenalectomia unilateral.AIMAH is a clinical condition characterized by the presence of adrenal macronodules even in the absence of ACTH. Usually the clinical overt syndrome only becomes apparent after several decades of life; this is probably due to the low steroidogenic enzyme capacity of the hyperplastic tissue. However, in asymptomatic individuals in whom the AIMAH was incidentally discovered, the HHA axis is usually disrupted. In the great majority of AIMAH cases

  16. 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

  17. 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

  18. 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...

  19. 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

  20. 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...

  1. 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...

  2. 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...

  3. 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.

  4. 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.

  5. 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

  6. 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

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

    International Nuclear Information System (INIS)

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

  8. Brain ultrasonographic findings of late-onset circulatory dysfunction due to adrenal insufficiency in preterm infants

    Science.gov (United States)

    2016-01-01

    Purpose: The aim of this study was to characterize the brain ultrasonographic findings of late-onset circulatory dysfunction (LCD) due to adrenal insufficiency (AI) in preterm infants. Methods: Among the 257 preterm infants born at AI. Brain ultrasonographic findings were retrospectively analyzed before and after LCD in 14 preterm infants, after exclusion of the other 21 infants with AI due to the following causes: death (n=2), early AI (n=5), sepsis (n=1), and patent ductus arteriosus (n=13). Results: Fourteen of 257 infants (5.4%) were diagnosed with LCD due to AI. The age at LCD was a median of 18.5 days (range, 9 to 32 days). The last ultrasonographic findings before LCD occurred showed grade 1 periventricular echogenicity (PVE) in all 14 patients and germinal matrix hemorrhage (GMH) with focal cystic change in one patient. Ultrasonographic findings after LCD demonstrated no significant change in grade 1 PVE and no new lesions in eight (57%), grade 1 PVE with newly appearing GMH in three (21%), and increased PVE in three (21%) infants. Five infants (36%) showed new development (n=4) or increased size (n=1) of GMH. Two of three infants (14%) with increased PVE developed cystic periventricular leukomalacia (PVL) and rapid progression to macrocystic encephalomalacia. Conclusion: LCD due to AI may be associated with the late development of GMH, increased PVE after LCD, and cystic PVL with rapid progression to macrocystic encephalomalacia. PMID:27156563

  9. 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

  10. Nodular regenerative hyperplasia, portal vein thrombosis, and avascular hip necrosis due to hyperhomocysteinaemia

    OpenAIRE

    Buchel, O; Roskams, T.; Van Damme, B; Nevens, F; Pirenne, J.; Fevery, J.

    2005-01-01

    A male patient with portal hypertension, portal vein thrombosis, spontaneous splenorenal shunt formation, and encephalopathy, thought to have post-hepatitis B cirrhosis, is described. His condition deteriorated and necessitated liver transplantation. In the explant liver, nodular regenerative hyperplasia with pronounced vascular lesions both in portal venules and in arterioles was found instead of classical cirrhosis. Two years post-transplant he developed bilateral ischaemic femur head necro...

  11. 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.

  12. Noncirrhotic Portal Hypertension due to Nodular Regenerative Hyperplasia Treated with Surgical Portacaval Shunt

    Directory of Open Access Journals (Sweden)

    Lisa M. Louwers

    2012-01-01

    Full Text Available Nodular regenerative hyperplasia (NRH is an uncommon condition, but an important cause of noncirrhotic intrahepatic portal hypertension (NCIPH, characterized by micronodules of regenerative hepatocytes throughout the liver without intervening fibrous septae. Herein, we present a case of a thirty-seven-year-old female with systemic lupus erythematosus (SLE who was discovered to have significant esophageal varices on endoscopy for dyspepsia. Her labs revealed a slight elevation in the alkaline phosphatase and mild thrombocytopenia. Abdominal MRI revealed seven focal hepatic masses, splenomegaly, no ascites, and a patent portal vein. Ultrasound-guided core biopsy was reported as focal nodular hyperplasia. However, her varices persisted despite treatment with beta-blockers and four additional upper endoscopies with banding. She was subsequently referred for a surgical opinion. At that time, given her history of SLE, azathioprine use, and portal hypertension, suspicion for NRH was raised. Given her normal synthetic function and lack of parenchymal liver disease, the patient was offered surgical shunting. During shunt surgery, a liver wedge biopsy was also performed and this confirmed NRH. An upper endoscopy six weeks after shunting verified complete resolution of varices. Currently, fifteen months after surgery duplex ultrasonography demonstrates shunt patency and the patient is without recurrence of her portal hypertension.

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

    International Nuclear Information System (INIS)

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

  14. Prostatic Artery Embolization for Enlarged Prostates Due to Benign Prostatic Hyperplasia. How I Do It

    Energy Technology Data Exchange (ETDEWEB)

    Carnevale, Francisco C., E-mail: fcarnevale@uol.com.br [University of Sao Paulo Medical School, Interventional Radiology Unit (Brazil); Antunes, Alberto A., E-mail: antunesuro@uol.com.br [University of Sao Paulo Medical School, Division of Urology (Brazil)

    2013-12-15

    Prostatic artery embolization (PAE) has emerged as an alternative to surgical treatments for benign prostatic hyperplasia (BPH). Patient selection and refined technique are essential for good results. Urodynamic evaluation and magnetic resonance imaging are very important and technical limitations are related to elderly patients with tortuous and atherosclerotic vessels, anatomical variations, difficulty visualizing and catheterizing small diameter arteries feeding the prostate, and the potential risk of bladder and rectum ischemia. The use of small-diameter hydrophilic microcatheters is mandatory. Patients can be treated safely by PAE with low rates of side effects, reducing prostate volume with clinical symptoms and quality of life improvement without urinary incontinence, ejaculatory disorders, or erectile dysfunction. A multidisciplinary approach with urologists and interventional radiologists is essential to achieve better results.

  15. 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

  16. 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.

  17. Watery diarrhea, hypokalemia and achlorhydria syndrome due to an adrenal pheochromocytoma

    Institute of Scientific and Technical Information of China (English)

    Shin-ichi Ikuta; Chiaki Yasui; Masahiro Kawanaka; Tsukasa Aihara; Hidenori Yoshie; Hidenori Yanagi; Masao Mitsunobu; Ayako Sugihara; Naoki Yamanaka

    2007-01-01

    Watery diarrhea, hypokalemia and achlorhydria (WDHA)syndrome caused by vasoactive intestinal polypeptide (VIP) -producing tumor only rarely occurs in patients with nonpancreatic disease. A 49-year-old woman was referred for evaluation of a right adrenal tumor incidentally diagnosed by abdominal ultrasound during the investigation of chronic watery diarrhea. Laboratory findings showed hypokalemia and excessive production of VIP and catecholamines. After surgical resection of the tumor, diarrhea subsided and both electrolytes and affected hormone levels normalized. Immunohistochemical examination confirmed a diagnosis of pheochromocytoma,which contained VIP-positive ganglion-like cells. We herein present the clinical and histogenetic implications of this rare clinical entity, with literature review.

  18. Limited significance of asymmetric adrenal visualization on dexamethasone-suppression scintigraphy

    International Nuclear Information System (INIS)

    To access whether a single measurement of the adrenal uptake of 6β-[131I]-iodomethylnorocholesterol (NP-59) on constant dexamethasone suppression would allow discrimination of adenoma from normal and bilateral hyperplasia, the adrenal uptake of 6β-[131I]-iodomethylnorocholesterol (NP-59) was determined in 50 patients with primary aldosteronism (30 adenoma, 20 hyperplasia) and in 13 with hyperandrogenism (six adenoma, seven hyperplasia). Bilateral adrenal NP-59 activity at 5 days was seen in 14 of 36 patients with adenoma whereas marked asymmetric uptake of NP-59 was seen in six of 27 patients with hyperplasia. Thus the level of adrenal NP-59 uptake does not alone serve to distinguish either adenoma from the normal, contralateral adrenal or the adrenal glands in bilateral hyperplasia in all cases. It appears that the pattern of adrenal imaging best serves to separate adrenal adenoma from bilateral hyperplasia

  19. Limited significance of asymmetric adrenal visualization on dexamethasone-suppression scintigraphy

    Energy Technology Data Exchange (ETDEWEB)

    Gross, M.D.; Shapiro, B.; Freitas, J.E.

    1985-01-01

    To access whether a single measurement of the adrenal uptake of 6..beta..-(/sup 131/I)-iodomethylnorocholesterol (NP-59) on constant dexamethasone suppression would allow discrimination of adenoma from normal and bilateral hyperplasia, the adrenal uptake of 6..beta..-(/sup 131/I)-iodomethylnorocholesterol (NP-59) was determined in 50 patients with primary aldosteronism (30 adenoma, 20 hyperplasia) and in 13 with hyperandrogenism (six adenoma, seven hyperplasia). Bilateral adrenal NP-59 activity at 5 days was seen in 14 of 36 patients with adenoma whereas marked asymmetric uptake of NP-59 was seen in six of 27 patients with hyperplasia. Thus the level of adrenal NP-59 uptake does not alone serve to distinguish either adenoma from the normal, contralateral adrenal or the adrenal glands in bilateral hyperplasia in all cases. It appears that the pattern of adrenal imaging best serves to separate adrenal adenoma from bilateral hyperplasia.

  20. 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.

  1. 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...

  2. 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.

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

    Science.gov (United States)

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

    2016-01-01

    The (18)F-FDG PET/CT scan has been suggested for whole-body imaging to identify ectopic adrenocorticotrophic hormone secreting tumours, but there are some challenges involved. The case of a patient is presented, who was admitted with the pre-diagnosis of ectopic ACTH syndrome. On the CT, a nodular lesion was detected in the medial segment of the right lung. The FDG uptake of the lesion seemed to be increased visually, but was not pathological quantitatively (SUVmax: 1.8) on the PET/CT. There was also diffuse increased uptake (SUVmax: 14.2) in the enlarged adrenal glands. The lesion was reported as a possible malignant lesion with low FDG affinity, such as a low grade neuroendocrine tumour, while the diffuse enlarged adrenal glands with high uptake were interpreted as diffusely hyperplasic, due to Cushing's syndrome. The patient was treated with a surgical wedge resection. The histopathological diagnosis confirmed that the tumour was a grade 1 well-differentiated neuroendocrine carcinoma. PMID:26522002

  4. Diffuse Muscular Pain, Skin Tightening, and Nodular Regenerative Hyperplasia Revealing Paraneoplastic Amyopathic Dermatomyositis due to Testicular Cancer

    Directory of Open Access Journals (Sweden)

    Sarah Norrenberg

    2012-01-01

    Full Text Available Paraneoplastic dermatomyositis (DM associated with testicular cancer is extremely rare. We report the case of a patient with skin tightening, polymyalgia, hypereosinophilia, and nodular regenerative hyperplasia revealing seminoma and associated paraneoplastic DM.

  5. 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

  6. 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)

  7. 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

  8. 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)

  9. The fish-hook configuration of the distal ureter indicates bladder outlet obstruction due to benign prostatic hyperplasia

    OpenAIRE

    Mamoulakis, Charalampos; Herrmann, Thomas R.W.; Höfner, Klaus; Oelke, Matthias

    2010-01-01

    Purpose The aim of this retrospective study was to evaluate in a historical series of patients whether morphological changes of the urinary tract imaged on intravenous urography (IVU) are associated with clinical or urodynamic data. Methods During a 1-year period, every man 45 years or older with lower urinary tract symptoms suggestive of benign prostatic hyperplasia was systematically evaluated with multi-channel computer-urodynamic investigation and IVU. Men with urinary retention, known bl...

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

    Directory of Open Access Journals (Sweden)

    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

  11. Addison's disease due to adrenal tuberculosis: Contrast-enhanced CT features and clinical duration correlation

    Energy Technology Data Exchange (ETDEWEB)

    Guo Yingkun [Department of Radiology, West China Hospital, Sichuan University, 37 Guo Xue Xiang, Chengdu, Sichuan 610041 (China); Yang Zhigang [Department of Radiology, West China Hospital, Sichuan University, 37 Guo Xue Xiang, Chengdu, Sichuan 610041 (China) and National Key Laboratory of Biotherapy, West China Hospital, Sichuan University, 37 Guo Xue Xiang, Chengdu, Sichuan 610041 (China)]. E-mail: zgyang888@yahoo.com; Li Yuan [Department of Radiology, West China Hospital, Sichuan University, 37 Guo Xue Xiang, Chengdu, Sichuan 610041 (China); Ma Ensen [Department of Radiology, West China Hospital, Sichuan University, 37 Guo Xue Xiang, Chengdu, Sichuan 610041 (China); Deng Yuping [Department of Radiology, West China Hospital, Sichuan University, 37 Guo Xue Xiang, Chengdu, Sichuan 610041 (China); Min Pengqiu [Department of Radiology, West China Hospital, Sichuan University, 37 Guo Xue Xiang, Chengdu, Sichuan 610041 (China); Yin Longlin [Department of Radiology, West China Hospital, Sichuan University, 37 Guo Xue Xiang, Chengdu, Sichuan 610041 (China); Hu Jian [Department of Stomatology, Dental Hospital, Wuhan University, Wuhan, Hubei 502310 (China); Zhang Xiaochun [Department of Radiology, West China Hospital, Sichuan University, 37 Guo Xue Xiang, Chengdu, Sichuan 610041 (China); Chen Tianwu [Department of Radiology, West China Hospital, Sichuan University, 37 Guo Xue Xiang, Chengdu, Sichuan 610041 (China)

    2007-04-15

    Purpose: To describe CT morphology of untreated adrenal tuberculosis during the different stages of the natural history of the disease and to evaluate the diagnostic implications of CT features. Materials and methods: We retrospectively evaluated CT features in 42 patients with documented adrenal tuberculosis for the location, size, morphology, and enhancement patterns shown on CT images. The clinical duration were correlated with the CT features. Results: Of the 42 patients with untreated adrenal tuberculosis, bilaterally enlarged adrenal glands were revealed in 38 cases (91%), unilaterally enlarged in 3 cases (7%), and normal size in 1 case (2%). Of the 41 cases (98%) with enlargement, mass-like enlargement was seen in 20 cases (49%) and enlargement with preserved contours in 21 cases (51%). Peripheral rim enhancement presented in 22 cases (52%) on contrast-enhanced CT. Non-enhanced CT scan revealed calcification in 21 cases (50%). As the duration of Addison's disease increased, the presence of calcification and contour preservation increased concomitantly (p < 0.001), whereas peripheral rim enhancement and mass-like enlargement decreased concomitantly on CT images (p < 0.001). Conclusion: CT may be helpful in diagnosing adrenal tuberculosis when clinically suspected, and CT features are correlated to the clinical duration of Addison's disease.

  12. Angiolymphoid Hyperplasia With Eosinophilia

    Directory of Open Access Journals (Sweden)

    Rath Namita

    2002-01-01

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

  13. 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

  14. 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...

  15. 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)

  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. 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.)

  18. 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

  19. 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)

  20. Safety of greenlight photoselective vaporisation of prostate in lower urinary tract symptoms due to benign prostatic hyperplasia in patients using anticoagulants due to cardiovascular comorbidities

    Directory of Open Access Journals (Sweden)

    Basri Cakiroglu

    2015-07-01

    Full Text Available Lasers have been used in the management of benign prostatic hyperplasia for the last two decades. To be comparable, they should reduce or avoid the immediate and long-term complications of transurethral resection of the prostate (TURP or open prostatectomy (OP, especially bleeding and need for blood transfusion. Although Holmium laser treatment of the prostate was compared frequently in terms of cardiovascular safety with TURP or OP, photoselective vaporisation of the prostate (PVP was not largely evaluated. In this article we analyzed the current literature to see if there is convincing data to support the observation of some authors that use of PVP is associated with increased safety in patients on anticoagulants with cardiovascular comorbidities. With this purpose a Medline search between January 2004 to March 2013 was performed using evidence obtained from randomised trials, well-designed controlled studies without randomisation, individual cohort studies, individual case control studies and case reports Results: In the last 10 years, several case-control and cohort studies have demonstrated the efficacy of PVP as well as its safety in patients with cardiovascular comorbidities using anticoagulants. The results confirmed the overall lower perioperative and postoperative morbidity of PVP, whereas the efficacy was comparable to TURP in the short term, despite a higher reoperation rate. Conclusion: Although it is still developing, PVP with KTP or LBO seems to be a promising alternative to both TURP and OP in terms of cardiovascular safety and in patients using anticoagulants.

  1. 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.)

  2. 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.

  3. Inflammatory Hyperplasia of the Oral Cavity

    OpenAIRE

    Sudarshan, Ramachandran; Vijayabala, G. Sree; Kumar, KS Prem

    2012-01-01

    Oral inflammatory hyperplasias' are the most common oral abnormalities. It manifests as diverse signs and symptoms. It may occur in any part of the oral cavity. They occur mainly due to reactive stimulus hence these lesions are called reactive hyperplasia. Distinguishing these entities and removal of etiological factors are essential. This review illustrates the various hyperplasia of the oral mucosa. Anahtar Kelimeler:

  4. 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.

  5. 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.)

  6. 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 ...

  7. 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...

  8. 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.)

  9. 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.)

  10. The use of PDE-5 inhibitors in the treatment of lower urinary tract symptoms due to benign prostatic hyperplasia.

    Science.gov (United States)

    Lythgoe, Casey; McVary, Kevin T

    2013-12-01

    The relationship between lower urinary tract symptoms secondary to BPH and ED has recently been the subject of significant research due to the prevalence of both conditions concomitantly existing in older men. Many large-scale studies have demonstrated an association between erectile dysfunction and lower urinary tract symptoms. Although the mechanisms underlying the relationship between LUTS and ED are not fully elucidated, several theories are currently proposed in literature: the nitric oxide/cGMP pathway, RhoA/Rho-kinase signaling, pelvic atherosclerosis associated with chronic hypoxia, and autonomic adrenergic hyperactivity. The mechanisms by which these pathways affect the bladder, prostate, pelvic vasculature and spinal cord are also the subject of current research. In this chapter, we examine the randomized, placebo-controlled trials that have evaluated the use of PDE-5Is in LUTS, as well as randomized, controlled trials (RCTs) researching combination PDE-5Is and alpha blockers. PMID:24136683

  11. Congenital myasthenic syndrome due to mutation in CHRNE gene with clinical worsening and thymic hyperplasia attributed to association with autoimmune-myasthenia gravis.

    Science.gov (United States)

    Santos, Ernestina; Moreira, Isabel; Coutinho, Ester; Gonçalves, Guilherme; Lopes, Carlos; Lopes Lima, José; Leite, M Isabel

    2015-12-01

    We report a patient with congenital myasthenic syndrome (CMS) due to mutation in CHRNE with symptoms since the age of 4; mild to moderate fatigable weakness involved mainly ocular, bulbar and limb muscles; functional impact of the disease in their development and physical activity was modest. By the age of 34, the patient experienced gradual worsening of fatigue with dyspnoea and pronounced limb weakness, requiring significant increase of pyridostigmine. Further, a remarkable and sustained clinical improvement followed thymectomy with hyperplastic thymus. Despite of the absence of detectable antibodies to acetyl-choline receptor (AChR) (including clustered-AChR), muscle-specific kinase and low-density lipoprotein receptor-related protein-4 antibodies in the serum obtained nine years after thymectomy, the clinical, genetic and histological features are in keeping with the extremely rare association of two rare neuromuscular junction disorders - CMS and myasthenia gravis (MG). The inexistence of other conditions that could potentially associate with thymic hyperplasia also supports the diagnosis of MG. PMID:26363966

  12. 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...

  13. Positive iodine-131 6 beta-iodomethyl-19-norcholesterol (NP-59) adrenal images can precede return of adrenocortical function after o,p' DDD treatment

    International Nuclear Information System (INIS)

    A patient with bilateral adrenal hyperplasia, due to the ectopic adrenocorticotrophic hormone (ACTH) syndrome, received a 3-month course of treatment with 1,1 dichloro-2(o-chlorophenyl)-2-(p-chlorophenyl)ethane (o,p' DDD), which caused adrenal hypofunction requiring steroid therapy. Eleven months later, Cushing's syndrome recurred. His CT scan showed a left adrenal gland that was enlarged and a normal-sized right adrenal gland. However, the NP-59 image showed increased uptake by both glands. Venous effluent was sampled from each adrenal vein. The plasma cortisol level from the left gland was 1392 ng/ml, and that from the right gland was 667 ng/ml. The latter value was not significantly different from the values obtained at peripheral sites (517-744 ng/ml). In the course of recovery from o,p' DDD damage, the ability of the adrenal gland to take up NP-59 may be restored before the return of its biosynthetic and secretory functions. Serial NP-59 adrenal images can anticipate the recurrence of Cushing's syndrome after adrenolytic therapy, thereby permitting early retreatment

  14. The role of Cucurbita pepo in the management of patients affected by lower urinary tract symptoms due to benign prostatic hyperplasia: A narrative review

    Directory of Open Access Journals (Sweden)

    Rocco Damiano

    2016-07-01

    Full Text Available Objective: Phytotherapeutic compounds are largely used in the treatment of lower urinary tract symptoms (LUTS related to benign prostatic hyperplasia (BPH due to low side-effect profiles and costs, high level of acceptance by patients and a low rate of dropout. Here, we aimed to analyze all available evidence on the role of Cucurbita pepo in the treatment of LUTS-BPH. Material and methods: In May 2016 a systematic search was carried out thorough National Library of Medicine Pubmed, Scopus database and the ISI Web of Knowledge official website in order to identify all published studies on Cucurbita pepo and BPH. The following search strings were used: “Cucurbita pepo” OR “pumpkin seed” AND “prostate”; “Cucurbita pepo” AND “antiandrogen” OR “antiproliferative” OR “anti-inflammatory” OR “antioxidant activities”; “cucurbita pepo” OR “pumpkin seed” AND “LUTS” AND “symptoms improvement” OR “quality of life”. We consider for the present analysis only studies related to LUTS-BPH. Results: Among all 670 screened, 16 were related to LUTSBPH and finally analyzed. Among all, ten of them were performed in “in vitro setting” showing anti-inflammatory and antiandrogen effect, and a reduction in prostate growth and detrusor activity, while six were clinical studies. In all studies an improvement in International Prostatic Symptoms Score (IPSS and uroflowmetry parameters has been reported. In 4 studies, an improvement in quality of life has been reported. Conclusion: On the basis of our narrative review, the use of Cucurbita pepo in the management of patients affected by LUTS-BPH seems to be useful for improving symptoms and quality of life. However, future clinical trials are requested to confirm these promising results.

  15. Adrenal Pathology in the Adult: A Urological Pathologist's Perspective.

    Science.gov (United States)

    Hansel, Donna E; Reuter, Victor E

    2016-09-01

    Adrenal gland diagnostics can pose significant challenges. In most academic and community practice settings, adrenal gland resections are encountered less frequently than other endocrine or genitourinary specimens, leading to less familiarity with evolving classifications and criteria. The unique dichotomy between cortical and medullary lesions reflects the developmental evolution of these functionally independent components. Adrenal cortical lesions at resection include hyperplasia, adenoma, and carcinoma, with some cases straddling the boundary between these distinct clinical classifications. The lack of immunohistochemical or molecular markers to definitively categorize these intermediate lesions enhances the diagnostic challenge. In addition, modified terminology for oncocytic and myxoid cortical lesions has been proposed. Medullary lesions are somewhat easier to categorize; however, the prediction of aggressive behavior in pheochromocytomas remains a challenge due to a lack of reliable prognostic biomarkers. Recent work by the Cancer Genome Atlas Project and other research groups has identified a limited subset of molecular and signaling pathway alterations in these 2 major neoplastic categories. Ongoing research to better define prognostic and predictive biomarkers in cortical and medullary lesions has the potential to enhance both pathologic diagnosis and patient therapy. PMID:27438375

  16. 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

  17. Inflammatory Hyperplasia of the Oral Cavity

    OpenAIRE

    Ramachandran Sudarshan; G. Sree Vijayabala; KS Prem Kumar

    2012-01-01

    Oral inflammatory hyperplasias’ are the most common oral abnormalities. It manifests as diverse signs and symptoms. It may occur in any part of the oral cavity. They occur mainly due to reactive stimulus hence these lesions are called reactive hyperplasia. Distinguishing these entities and removal of etiological factors are essential. This review illustrates the various hyperplasia of the oral mucosa. Anahtar Kelimeler: [Archives Medical Review Journal 2012; 21(4.000): 299-307

  18. 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...

  19. 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.

  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. 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

  2. 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)

  3. 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

  4. 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.

  5. Longitudinal Evaluation of the Hypothalamic-Pituitary-Testicular Function in 8 Boys with Adrenal Hypoplasia Congenita (AHC) Due to NR0B1 Mutations

    Science.gov (United States)

    Galeotti, Caroline; Lahlou, Zineb; Goullon, Domitille; Sarda-Thibault, Hélène; Cahen-Varsaux, Juliette; Bignon-Topalovic, Joëlle; Bashamboo, Anu; McElreavey, Ken; Brauner, Raja

    2012-01-01

    Background Boys carrying mutations in the NR0B1 gene develop adrenal hypoplasia congenita (AHC) and impaired sexual development due to the combination of hypogonadotropic hypogonadism (HH) and primary defects in spermatogenesis. Methods We analysed the evolution of hypothalamic-pituitary-testicular function of 8 boys with AHC due to NR0B1 mutations. Our objective was to characterize and monitor the progressive deterioration of this function. Results The first symptoms appeared in the neonatal period (n = 5) or between 6 months and 8.7 years (n = 3). Basal plasma adrenocorticotrophic hormone (ACTH) concentrations increased in all boys, whilst cortisol levels decreased in one case. The natremia was equal or below 134 mmol/L and kaliemia was over 5 mmol/L. All had increased plasma renin. In 3 of 4 patients diagnosed in the neonatal period and evaluated during the first year, the basal plasma gonadotropins concentrations, and their response to gonadotropin releasing hormone (GnRH) test (n = 2), and those of testosterone were normal. The plasma inhibin B levels were normal in the first year of life. With the exception of two cases these concentrations decreased to below the normal for age. Anti-Müllerian hormone concentrations were normal for age in all except one case, which had low concentrations before the initiation of testosterone treatment. In 3 of the 8 cases the gene was deleted and the remaining 5 cases carried frameshift mutations that are predicted to introduce a downstream nonsense mutation resulting in a truncated protein. Conclusions The decreases in testosterone and inhibin B levels indicated a progressive loss of testicular function in boys carrying NR0B1 mutations. These non-invasive examinations can help to estimate the age of the testicular degradation and cryopreservation of semen may be considered in these cases as investigational procedure with the aim of restoring fertility. PMID:22761912

  6. 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.)

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

    International Nuclear Information System (INIS)

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

  8. 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

  9. 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 ...

  10. Transient Pseudohypoaldosteronism due to Urinary Tract Infection in Infancy: A Report of 4 Cases

    OpenAIRE

    Kaplowitz Paul; Vaidyanathan Priya; Nandagopal Radha

    2009-01-01

    Hyponatremia with hyperkalemia in infancy is an uncommon but life-threatening occurrence. In the first weeks of life, this scenario is often associated with aldosterone deficiency due to salt-wasting congenital adrenal hyperplasia. However, alternative diagnoses involving inadequate mineralocorticoid secretion or action must be considered, particularly for infants one month of age or older. We report four infants who presented with profound hyponatremia accompanied by urinary tract infection...

  11. Transient Pseudohypoaldosteronism due to Urinary Tract Infection in Infancy: A Report of 4 Cases

    OpenAIRE

    Radha Nandagopal; Priya Vaidyanathan; Paul Kaplowitz

    2009-01-01

    Hyponatremia with hyperkalemia in infancy is an uncommon but life-threatening occurrence. In the first weeks of life, this scenario is often associated with aldosterone deficiency due to salt-wasting congenital adrenal hyperplasia. However, alternative diagnoses involving inadequate mineralocorticoid secretion or action must be considered, particularly for infants one month of age or older. We report four infants who presented with profound hyponatremia accompanied by urinary tract infection,...

  12. 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...

  13. 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、

  14. 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.

  15. 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.

  16. 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.)

  17. 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.)

  18. 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 - ...

  19. 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 ...

  20. 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...

  1. Differential diagnosis of adrenal masses using out-of-phase flash imaging

    International Nuclear Information System (INIS)

    The purpose of this report was to suggest the ability to differentiate adrenal masses by out-of-phase FLASH imaging. The images were obtained with breath-holding at TR/TE 100/12 ms, flip angle 20deg. The material included adrenal adenoma (n = 16), nodular hyperplasia (n = 1) pheochromocytoma (n=5), and adrenal metastatic tumors (n=7). The signal intensity ratios of the adrenal mass/the diaphragmatic crus, back muscle, and renal cortex were obtained. The mean values of the ratios of adenomas or nodular hyperplasia were significantly different from pheochromocytomas or metastases. Although the number of adrenal masses was fairly small, the ratios of adrenal mass/diaphragmatic crus could distinguish them with no overlapping case. All 17 masses with the ratio of 1.16 or less were adenomas or nodular hyperplasia, whereas all 12 masses with a ratio greater than 1.23 were pheochromocytomas or metastases. This result suggests the ability of out-of-phase FLASH imaging to differentiate adrenal masses. (orig.)

  2. 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

  3. 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

  4. 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.)

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

    Energy Technology Data Exchange (ETDEWEB)

    Komiya, Ichiro; Ohara, Noriko; Nagasawa, Yoshitaka; Asawa, Takayuki; Hashizume, Kiyoshi (Shinshu Univ., Matsumoto, Nagano (Japan). Faculty of Medicine); Takasu, Nobuyuki; Yamada, Takashi

    1994-04-01

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

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

    International Nuclear Information System (INIS)

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

  8. 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.

  9. 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

  10. 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.

  11. 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 ...

  12. 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.

  13. MR imaging of adrenal masses smaller than 5 cm

    International Nuclear Information System (INIS)

    The T2 relaxation times of 28 adrenal masses smaller than 5 cm obtained using a 1.5 Tesla MR imaging system were analyzed to evaluate the ability of this parameter to characterize the tissue masses. The adrenal masses included 13 nonhyperfunctioning adenomas, five hyperfunctioning adenomas, five metastatic tumors, two pheochromocytomas, one nodular hyperplasia, one ganglioneuroma, and one cyst. The mean T2 value of nonhyperfunctioning adenomas was almost the same as that of hyperfunctioning adenomas. A significant difference was found in T2 (p2 of over 70 msec. The T2 values of nodular hyperplasia and adrenal cyst were 58 msec and 123 msec, respectively. Although the T2 values of metastatic tumors tended to be longer than those of nonhyperfunctioning adenomas, differentiation between them with a T2 of 60 msec was not necessarily possible, especially in smaller masses. The T2 values of two metastatic tumors of less than 2 cm indicated 50 msec levels. There seemed to be a correlation between mass size and T2 in metastatic tumors. In adenomas, however, no significant correlation was demonstrated. We conclude that the characterization of small adrenal masses by T2 at 1.5 Tesla is unsatisfactory in differentiating metastatic tumors from nonhyperfunctioning adenomas. (author)

  14. Exophytic benign prostatic hyperplasia.

    Science.gov (United States)

    Blaschko, Sarah D; Eisenberg, Michael L

    2011-08-01

    A 60-year-old man had incidental finding of a multilobular 8 × 7 × 7-cm mass identified posterior to the urinary bladder in continuity with the prostate. The man's prostate-specific antigen was 1.87, and he denied any lower urinary tract symptoms. A transrectal ultrasound-guided biopsy demonstrated benign prostatic tissue. A computed tomography-guided needle aspiration demonstrated a benign epithelium-lined cyst, likely prostatic in origin. Benign prostatic hyperplasia is a proliferation of prostatic epithelial and stromal cells. Although prostatic hyperplasia is usually restricted to the prostate gland, hyperplastic nodules occasionally protrude outside the prostate and rarely form exophytic pelvic masses. PMID:20869104

  15. 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.

  16. Echogenicity of benign adrenal focal lesions on imaging with new ultrasound techniques – report with pictorial presentation

    Science.gov (United States)

    Kasperlik-Załuska, Anna A.; Migda, Bartosz; Otto, Maciej; Dobruch-Sobczak, Katarzyna; Jakubowski, Wiesław S.

    2015-01-01

    Aim The aim of the research was to assess the echogenicity of benign adrenal focal lesions using new ultrasound techniques. Material and method 34 benign adrenal masses in 29 patients were analyzed retrospectively. The examinations were conducted using Aplio XG (Toshiba, Japan) ultrasound scanner with a convex probe 1–6 MHz in the B-mode presentation with the combined use of new ultrasound techniques: harmonic imaging and spatial compound sonography. The size of the adrenal tumors, their echogenicity and homogeneity were analyzed. Statistical analysis was conducted using the STATISTICA 10 software. Results The following adrenal masses were assessed: 12 adenomas, 10 nodular hyperplasias of adrenal cortex, 7 myelolipomas, 3 pheochromocytomas, a hemangioma with hemorrhage and a cyst. The mean diameter of nodular hyperplasia of adrenal cortex was not statistically different from that of adenomas (p = 0.075). The possibility of differentiating between nodular hyperplasia and adenoma using the parameter of hypoechogenicity or homogeneity of the lesion was demonstrated with the sensitivity and specificity of 100% and 41.7%, respectively. The larger the benign adrenal tumor was, the more frequently did it turn out to have a mixed and inhomogenous echogenicity (p adrenal focal lesions was demonstrated. The image of an adrenal tumor correlates with its size. The ultrasound examination, apart from its indisputable usefulness in detecting and monitoring adrenal tumors, may also allow for the differentiation between benign lesions. However, for lesions found incidentally an algorithm for the assessment of adrenal incidentalomas is applicable, which includes computed tomography and magnetic resonance imaging. PMID:26807294

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

    International Nuclear Information System (INIS)

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

  18. A case report of hyperaldosteronism due to aldosteronoma

    Directory of Open Access Journals (Sweden)

    Rabiy Hashemi M

    1997-08-01

    Full Text Available Primary hyperaldosteronism is one of the few causes of hypertension that can be cured by surgery. Primary hyperaldosteronism is caused by adrenocortical adenoma or hyperplasia. It is important to differentiate between adrenal adenoma and hyperplasia because the preferred treatments are different. In all patients with new-onest or worsening hypertension the primary hyperaldosteronism should be considered as an etiology. Patients with primary hyperaldosteronism classically have hypertension with spontaneous hypokalemia. The serum sodium concentration is usually normal in patients with primary aldosteronism who are not taking diuretics. Weakness, fatigue, paresthesia, tetany and even paralysis may develop. Renin and angiotensin II are suppressed in both forms of primary hyperaldosteronism due to feedback. Polyuria may develop secondary to vasopressin resistance from chronic hyperkaliuria. Hypertension or eclampsia during pregnancy is common in women with primary hyperaldosteronism. Case report: A 42-years-old woman presented with headache, severe hypertension, general weakness, easy fatigability, vertigo, palpitation, visual disorders and nocturia. She had a past history of eclampsia 10 years ago. In laboratory investigation there was hypokalemia, elevated serum aldosterone, low renin activity and hyperkaliuria. In abdominal CT-scan there was a hypodense mass measuring 2 cm in diameter in her left adrenal gland. The patient had primary hyperaldosteronism due to aldosteronoma.

  19. Angiolymphoid hyperplasia with eosinophilia

    Directory of Open Access Journals (Sweden)

    Ghosh SK

    1996-01-01

    Full Text Available ABSTRACT: A 28 year old female presented with multiple, firm, nodular lesions on the back of left pinna and adjoining skull with severe itching and eczematous changes of left pinna. Histopathology revealed picture consistent with angiolymphoid hyperplasia. The nodules persisted for 3 year and surgically excised.

  20. 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 ...

  1. 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...

  2. cAMP signaling in cortisol-producing adrenal adenoma.

    Science.gov (United States)

    Calebiro, Davide; Di Dalmazi, Guido; Bathon, Kerstin; Ronchi, Cristina L; Beuschlein, Felix

    2015-10-01

    The cAMP signaling pathway is one of the major players in the regulation of growth and hormonal secretion in adrenocortical cells. Although its role in the pathogenesis of adrenocortical hyperplasia associated with Cushing's syndrome has been clarified, a clear involvement of the cAMP signaling pathway and of one of its major downstream effectors, the protein kinase A (PKA), in sporadic adrenocortical adenomas remained elusive until recently. During the last year, a report by our group and three additional independent groups showed that somatic mutations of PRKACA, the gene coding for the catalytic subunit α of PKA, are a common genetic alteration in patients with Cushing's syndrome due to adrenal adenomas, occurring in 35-65% of the patients. In vitro studies revealed that those mutations are able to disrupt the association between catalytic and regulatory subunits of PKA, leading to a cAMP-independent activity of the enzyme. Despite somatic PRKACA mutations being a common finding in patients with clinically manifest Cushing's syndrome, the pathogenesis of adrenocortical adenomas associated with subclinical hypercortisolism seems to rely on a different molecular background. In this review, the role of cAMP/PKA signaling in the regulation of adrenocortical cell function and its alterations in cortisol-producing adrenocortical adenomas will be summarized, with particular focus on recent developments. PMID:26139209

  3. 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.

  4. Transurethral Resection of the Prostate (TURP) Versus Original and PErFecTED Prostate Artery Embolization (PAE) Due to Benign Prostatic Hyperplasia (BPH): Preliminary Results of a Single Center, Prospective, Urodynamic-Controlled Analysis

    Energy Technology Data Exchange (ETDEWEB)

    Carnevale, Francisco C., E-mail: fcarnevale@uol.com.br [University of Sao Paulo Medical School, Interventional Radiology Unit (Brazil); Iscaife, Alexandre, E-mail: iscaifeboni@yahoo.com.br; Yoshinaga, Eduardo M., E-mail: dumuracca@ig.com.br [University of Sao Paulo Medical School, Division of Urology (Brazil); Moreira, Airton Mota, E-mail: motamoreira@gmail.com [University of Sao Paulo Medical School, Interventional Radiology Unit (Brazil); Antunes, Alberto A., E-mail: antunesuro@uol.com.br; Srougi, Miguel, E-mail: srougi@uol.com.br [University of Sao Paulo Medical School, Division of Urology (Brazil)

    2016-01-15

    PurposeTo compare clinical and urodynamic results of transurethral resection of the prostate (TURP) to original and PErFecTED prostate artery embolization (PAE) methods for benign prostatic hyperplasia.MethodsWe prospectively randomized 30 patients to receive TURP or original PAE (oPAE) and compared them to a cohort of patients treated by PErFecTED PAE, with a minimum of 1-year follow-up. Patients were assessed for urodynamic parameters, prostate volume, international prostate symptom score (IPSS), and quality of life (QoL).ResultsAll groups were comparable for all pre-treatment parameters except bladder contractility and peak urine flow rate (Q{sub max}), both of which were significantly better in the TURP group, and IIEF score, which was significantly higher among PErFecTED PAE patients than TURP patients. All groups experienced significant improvement in IPSS, QoL, prostate volume, and Q{sub max}. TURP and PErFecTED PAE both resulted in significantly lower IPSS than oPAE but were not significantly different from one another. TURP resulted in significantly higher Q{sub max} and significantly smaller prostate volume than either original or PErFecTED PAE but required spinal anesthesia and hospitalization. Two patients in the oPAE group with hypocontractile bladders experienced recurrence of symptoms and were treated with TURP. In the TURP group, urinary incontinence occurred in 4/15 patients (26.7 %), rupture of the prostatic capsule in 1/15 (6.7 %), retrograde ejaculation in all patients (100 %), and one patient was readmitted for temporary bladder irrigation due to hematuria.ConclusionsTURP and PAE are both safe and effective treatments. TURP and PErFecTED PAE yield similar symptom improvement, but TURP is associated with both better urodynamic results and more adverse events.

  5. Transurethral Resection of the Prostate (TURP) Versus Original and PErFecTED Prostate Artery Embolization (PAE) Due to Benign Prostatic Hyperplasia (BPH): Preliminary Results of a Single Center, Prospective, Urodynamic-Controlled Analysis

    International Nuclear Information System (INIS)

    PurposeTo compare clinical and urodynamic results of transurethral resection of the prostate (TURP) to original and PErFecTED prostate artery embolization (PAE) methods for benign prostatic hyperplasia.MethodsWe prospectively randomized 30 patients to receive TURP or original PAE (oPAE) and compared them to a cohort of patients treated by PErFecTED PAE, with a minimum of 1-year follow-up. Patients were assessed for urodynamic parameters, prostate volume, international prostate symptom score (IPSS), and quality of life (QoL).ResultsAll groups were comparable for all pre-treatment parameters except bladder contractility and peak urine flow rate (Qmax), both of which were significantly better in the TURP group, and IIEF score, which was significantly higher among PErFecTED PAE patients than TURP patients. All groups experienced significant improvement in IPSS, QoL, prostate volume, and Qmax. TURP and PErFecTED PAE both resulted in significantly lower IPSS than oPAE but were not significantly different from one another. TURP resulted in significantly higher Qmax and significantly smaller prostate volume than either original or PErFecTED PAE but required spinal anesthesia and hospitalization. Two patients in the oPAE group with hypocontractile bladders experienced recurrence of symptoms and were treated with TURP. In the TURP group, urinary incontinence occurred in 4/15 patients (26.7 %), rupture of the prostatic capsule in 1/15 (6.7 %), retrograde ejaculation in all patients (100 %), and one patient was readmitted for temporary bladder irrigation due to hematuria.ConclusionsTURP and PAE are both safe and effective treatments. TURP and PErFecTED PAE yield similar symptom improvement, but TURP is associated with both better urodynamic results and more adverse events

  6. 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)

  7. 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...

  8. 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.

  9. 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 ...

  10. 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.

  11. 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

  12. Pituitary hyperplasia: an uncommon presentation of a common disease

    Science.gov (United States)

    Massolt, E T; Peeters, R P; Neggers, S J; de Herder, W W

    2015-01-01

    Summary A 21-year-old woman presented with amenorrhea, bilateral galactorrhea and fatigue. Visual acuity and visual fields were normal. Laboratory examination demonstrated hyperprolactinemia. Magnetic resonance imaging (MRI) of the pituitary showed a 19×17×12-mm sellar mass with supra- and parasellar extension, causing compression of the pituitary stalk and optic chiasm. Further examinations confirmed mild hyperprolactinemia, strongly elevated TSH (>500 mU/l), low free thyroxine (FT4), hypogonadotropic hypogonadism and secondary adrenal insufficiency. Hydrocortisone and l-T4 replacement therapy was started. Three months later, the galactorrhea had disappeared, thyroid function was normalized and MRI revealed regression of the pituitary enlargement, confirming the diagnosis of pituitary hyperplasia (PH) due to primary hypothyroidism. Subsequently, the menstrual cycle returned and the hypocortisolism normalized. This case demonstrates that severe primary hypothyroidism may have an unusual presentation and should be considered in the differential diagnosis of pituitary enlargement associated with moderate hyperprolactinemia. Learning points One should always try to find one etiology as the common cause of all the clinical findings in a pathologic process.Amenorrhea, galactorrhea and fatigue may be the only presenting clinical manifestations of primary hypothyroidism.Not every patient with galactorrhea, hyperprolactinemia and a pituitary mass has a prolactinoma.Primary hypothyroidism should always be considered in the differential diagnosis of hyperprolactinemia associated with pituitary enlargement and pituitary hormone(s) deficiency(ies).When PH due to primary hypothyroidism is suspected, thyroid hormone replacement should be started and only regression of pituitary enlargement on MRI follow-up can confirm the diagnosis.Examination of thyroid function in patients with a pituitary mass may avoid unnecessary surgery. PMID:26279852

  13. Atypical focal nodular hyperplasia of the liver

    Institute of Scientific and Technical Information of China (English)

    Muhammad Rizwan Khan; Taimur Saleem; Tanveer Ul Haq; Kanwal Aftab

    2011-01-01

    BACKGROUND: Focal nodular hyperplasia, a benign hepatic tumor, is usually asymptomatic. However, rarely the entity can cause symptoms, mandating intervention. METHOD: We present a case of focal nodular hyperplasia of the liver, which caused a considerable diagnostic dilemma due to its atypical presentation. RESULTS: A 29-year-old woman presented with a 15-year history of a progressively increasing mass in the right upper quadrant which was associated with pain and emesis. Examination showed a firm, mobile mass palpable below the right subcostal margin. A computed tomography scan of the abdomen showed an exophytic mass arising from hepatic segments III and IVb. Trucut biopsy of the hepatic mass was equivocal. Angiography showed a vascular tumor that was supplied by a tortuous branch of the proper hepatic artery. Surgical intervention for removal of the mass was undertaken. Intra-operatively, two large discrete tumors were found and completely resected. Histopathological examination showed features consistent with focal nodular hyperplasia. CONCLUSION: This description of an unusual case of focal nodular hyperplasia of the liver highlights the point that the diagnosis of otherwise benign hepatic tumors may be difficult despite extensive work-up in some cases.

  14. 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.)

  15. 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

  16. 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.

  17. 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.)

  18. Cutaneous lymphoid hyperplasias.

    Science.gov (United States)

    Gilliam, A C; Wood, G S

    2000-06-01

    Benign hyperplastic lymphoid infiltrates of the skin (pseudolymphoma, older term) simulate lymphoma clinically and histologically. They can be divided into B-cell predominant (typical cutaneous lymphoid hyperplasia (CLH), angiolymphoid hyperplasia, Kimura's disease, and Castleman's disease) and T-cell predominant (T-cell CLH, lymphomatoid contact dermatitis, and lymphomatoid drug eruption). Both types may represent exaggerated reactions to diverse external antigens (insect bite, tattoo, zoster, trauma, among others). A composite assessment of clinical presentation and behavior, routine histology, immunophenotyping, and molecular studies is essential for the diagnosis of benign cutaneous lymphoid infiltrates. Treatment includes antibiotics, intralesional and systemic corticosteroids, excision, radiotherapy, and immunosuppressants. Treatment depends on the assessment and biologic behavior, which is usually benign. Molecular biologic analysis has shown that a significant proportion of cases harbor occult B- or T-cell clones (clonal CLH). Progression to overt cutaneous lymphoma has been observed in a minority of cases. Patients with clonal populations of B or T cells and persistent lesions should be closely observed for emergence of a lymphoma. PMID:10892716

  19. Development of intimal hyperplasia in transplant arteriosclerosis

    OpenAIRE

    Religa, Piotr

    2003-01-01

    Vascular disease is the main cause of disability and mortality in the western world and the major limiting factor for long- term survival of transplanted organs. Occlusive vascular lesions lead to ischemia and structural changes in organs and in transplant arteriosclerosis and restenosis after endovascular procedures, narrowing of the vessel lumen is partly due to intimal hyperplasia caused by smooth muscle cells (SMCs). In this thesis, I have examined the mechanisms involve...

  20. 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

  1. 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)

  2. 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)

  3. 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)

  4. Transient Pseudohypoaldosteronism due to Urinary Tract Infection in Infancy: A Report of 4 Cases

    Directory of Open Access Journals (Sweden)

    Kaplowitz Paul

    2009-05-01

    Full Text Available Hyponatremia with hyperkalemia in infancy is an uncommon but life-threatening occurrence. In the first weeks of life, this scenario is often associated with aldosterone deficiency due to salt-wasting congenital adrenal hyperplasia. However, alternative diagnoses involving inadequate mineralocorticoid secretion or action must be considered, particularly for infants one month of age or older. We report four infants who presented with profound hyponatremia accompanied by urinary tract infection, ultimately leading to the diagnosis of transient pseudohypoaldosteronism. Our cases provide support for the idea that the renal tubular resistance to aldosterone is due to urinary tract infection itself rather than to underlying urinary tract anomalies typically found in these infants. Awareness of this condition is important so that serum aldosterone, urine sodium, and urine cultures may be obtained immediately in any infant presenting with hyponatremia and hyperkalemia in whom a diagnosis of congenital adrenal hyperplasia was not found. Adequate replacement with intravenous saline and antibiotic therapy is sufficient to correct sodium levels over 24–48 hours.

  5. 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....

  6. Transurethral convective water vapor as a treatment for lower urinary tract symptomatology due to benign prostatic hyperplasia using the Rezūm® system: evaluation of acute ablative capabilities in the human prostate

    Directory of Open Access Journals (Sweden)

    Dixon CM

    2015-01-01

    Full Text Available Christopher M Dixon,1 Edwin Rijo Cedano,2 Lance A Mynderse,3 Thayne R Larson4 1Lenox Hill Hospital, New York, NY, USA; 2Department of Urology, Clinica Canela, La Romana, Dominican Republic; 3Department of Urology, Mayo Clinic, Rochester, MN, USA; 4Institute of Medical Research, Scottsdale, AZ, USA Background: The purpose of this study was to assess the acute ablative characteristics of transurethral convective water vapor (steam using the Rezūm® system in men with benign prostatic hyperplasia through histologic and radiographic studies. Methods: Seven patients were treated with transurethral intraprostatic injections of sterile steam under endoscopic visualization followed by previously scheduled adenectomies. The extirpated adenomas were grossly examined followed by whole mount sectioning and staining with triphenyl-tetrazolium chloride (TTC to evaluate thermal ablation. Histology was performed after hematoxylin and eosin staining on one prostate. After review of results from the first patient cohort, an additional 15 patients with clinical benign prostatic hyperplasia were treated followed by gadolinium-enhanced magnetic resonance imaging (MRI at one week. Results: In the first patient cohort, gross examination of TTC-stained tissue showed thermal ablation in the transition zone. In addition, there was a distinct interface between viable and necrotic prostatic parenchyma. Histopathologic examination revealed TTC staining-outlined necrotic versus viable tissue. Gadolinium-enhanced MRIs in the cohort of 15 patients demonstrated lesion defects in all patients at 1 week post-procedure. Coalesced lesions were noted with a mean (± standard deviation lesion volume of 9.6±8.5 cm3. The largest lesion volume was 35.1 cm3. Ablation using vapor was rapid and remained confined to the transition zone, consistent with the thermodynamic principles of convective thermal energy transfer. Conclusion: Thermal ablation was observed in all specimens. The

  7. Resistant hypertension with adrenal nodule: are we removing the right gland?

    Science.gov (United States)

    Taylor, Peter N; Tabasum, Arshiya; Rao Bondugulapati, L N; Parker, Danny; Baglioni, Piero; Okosieme, Onyebuchi E; Scott Coombes, David

    2015-01-01

    Summary Resistant hypertension is often difficult to treat and may be associated with underlying primary aldosteronism (PA). We describe the case of an elderly gentleman who presented with severe and resistant hypertension and was found to have a left adrenal incidentaloma during evaluation but had aldosterone excess secondary to unilateral adrenal hyperplasia (UAH) of the contralateral gland, which needed surgical intervention. A 65-year-old gentleman was evaluated for uncontrolled high blood pressure (BP) in spite of taking four antihypertensive medications. The high BP was confirmed on a 24-h ambulatory reading, and further biochemical evaluation showed an elevated serum aldosterone renin ratio (ARR) (1577 pmol/l per ng per ml per h). Radiological evaluation showed an adrenal nodule (15 mm) in the left adrenal gland but an adrenal vein sampling demonstrated a lateralization towards the opposite site favouring the right adrenal to be the source of excess aldosterone. A laparoscopic right adrenalectomy was performed and the histology of the gland confirmed nodular hyperplasia. Following surgery, the patient's BP improved remarkably although he remained on antihypertensives and under regular endocrine follow-up. PA remains the most common form of secondary and difficult-to-treat hypertension. Investigations may reveal incidental adrenal lesions, which may not be the actual source of excess aldosterone, but UAH may be a contributor and may coexist and amenable to surgical treatment. An adrenal vein sampling should be undertaken for correct lateralization of the source, otherwise a correctable diagnosis may be missed and the incorrect adrenal gland may be removed. Learning points Severe and resistant hypertension can often be associated with underlying PA. ARR is an excellent screening tool in patients with suspected PA. Lateralization with adrenal venous sampling is essential to isolate the source and differentiate between unilateral and bilateral causes of

  8. Acute psychosis in the course of treatment of acute adrenal crisis with hydrocortisone in the patient with secondary adrenal insufficiency – a case study.

    OpenAIRE

    Jan Brykalski; Lucyna Papierska; Maria Załuska

    2015-01-01

    Objectives Presentation of the risk of psychosis induced by the treatment of adrenal crisis with high doses of hydrocortisone. Methods A case analysis in the context of the literature Results There are reported psychoses in the patients with adrenal hypofunction and hyperfunction. Psychoses following implementation of substitution with small doses of corticosteroids due to adrenal insufficiency were also observed. The hypereactivity of the glucocorticoid receptor is suppose...

  9. 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.

  10. 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...

  11. 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...

  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. 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.).

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

    Directory of Open Access Journals (Sweden)

    Shivashankar Damodaran

    2015-01-01

    Full Text Available 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 very hyperintense lesion in another, in T2-weighted images, mimicking a adrenocortical malignancy and a pheochromocytoma respectively. Both cases were treated by surgical excision. Histopathological examination established the correct diagnosis of schwannoma, which was confirmed by immunohistochemical staining. Juxta-adrenal schwannoma is rare tumors of the retroperitoneum, which should also be borne in mind whenever encountering large nonsecreting adrenal tumors. We report a unique imaging characteristic, which helps in preoperative identification these rare lesions.

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

    Science.gov (United States)

    Damodaran, Shivashankar; Mahimairaj, Griffin; Velaichamy, Kamaraj

    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 very hyperintense lesion in another, in T2-weighted images, mimicking a adrenocortical malignancy and a pheochromocytoma respectively. Both cases were treated by surgical excision. Histopathological examination established the correct diagnosis of schwannoma, which was confirmed by immunohistochemical staining. Juxta-adrenal schwannoma is rare tumors of the retroperitoneum, which should also be borne in mind whenever encountering large nonsecreting adrenal tumors. We report a unique imaging characteristic, which helps in preoperative identification these rare lesions. PMID:25837378

  16. 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.

  17. Adrenocortical scintigraphy to evaluate incidental adrenal mass (incidentaloma) discovered on computed tomography

    International Nuclear Information System (INIS)

    To assess the nature of adrenal mass incidentally discovered on computed tomography, adrenocortical scintigraphy with I-131-6 β-iodomethyl-19-norcholest-5(10)-en-3 β-ol (I-131 Adosterol) in 29 patients was retrospectively reviewed. All patients had no clinical symptoms and biochemical evidence of adrenal hyperfunction. Six of them had extraadrenal malignancy. Increased tracer uptake on the side of adrenal mass was observed in 13 patients (concordant group): cortical adenoma in 8, macronodular hyperplasia in 1, no growing tumor in 1, and no further examination in the remaining 3 patients. No cancer patients were included in the concordant group. Symmetric uptake was seen in 9 patients (symmetric group): 1 cortical adenoma and 1 ganglioneuroma, 6 no growing tumor (two of them had malignancy), and no further examination in 1 patient. Decreased uptake was shown in 7 patients (disconcordant group): metastasis in 4, adrenal cyst in 2, and no growing tumor in 1. Adrenocortical scintigraphy was helpful in distinguishing benign functioning adrenal masses from non-functioning adrenal masses such as metastatic tumor and cyst. (author)

  18. US-guided fine-needle biopsy (FNB) of adrenal masses in the staging of lung tumors

    International Nuclear Information System (INIS)

    In patients with lung tumors adrenal masses can represent metastases, hyperplasia, adenoma or other benign lesions, most of which can be asymptomatic. Altough the sensibility of US and CT in the diagnosis of adrenal metastases is very high, their specificity is somehow less satisfactory. The risk of overstaging operable pulmonary tumors is therefore present. US-guided FNB can yield material enough for cytologic and, in some cases, histologic evaluation, thus offering a reliable solution to the clinical problem in selected cases. The experience with US-guided percutaneous mono or bilateral FNB of adrenal masses with Chiba and/or Otto needle in 14 patients with pulmonary neoplasms is reported. The use of Otto needle is suggested in the largest adrenal masses or when histology of the primary neoplasm is unknowen. Bilateral cytological FNB is suggested in borderline lesions

  19. 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.

  20. 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...

  1. 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

  2. Thymic hyperplasia in Graves′ disease

    Directory of Open Access Journals (Sweden)

    Narendra Kotwal

    2013-01-01

    Full Text Available Graves′ disease is an autoimmune thyroid condition characterized by the production of autoantibodies against the thyrotropin receptor. It is known to be associated with autoimmune conditions such as myasthenia gravis, Addison′s disease, type 1 diabetes mellitus, and vitiligo. We present a case of rare autoimmune association of Graves′ disease with thymic hyperplasia which regressed after treatment with antithyroid drugs. Exact pathophysiology of thymic hyperplasia in Graves′ is not well understood; it is likely to be the result of rather than the cause of Graves′ disease.

  3. 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

  4. 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

  5. The role of computed tomography in assessment of endocrine adrenal disorders in adult patients. Report of fifty-six cases

    International Nuclear Information System (INIS)

    A prospective CT study has been performed in 56 patients in order to define its usefulness in the diagnosis of adrenal masses accompanying an endocrine syndrome. CT data have been compared with clinical, biological and surgical data. CT scan accuracy is variable with different endocrine disorders, better in pheochromocytoma than in Cushing syndrome. In this syndrome, size of the mass and density after contrast media injection may differentiate adenoma from hyperplasia in difficult cases. In hyperaldosteronism, significant differences in densities contribute to the diagnosis between adenoma and hyperplasia

  6. Role of computed tomography in assessment of endocrine adrenal disorders in adult patients. Report of fifty-six cases

    Energy Technology Data Exchange (ETDEWEB)

    Laissy, J.P.; Genevois, A.; Assailly, C.; Janvresse, A.; Louvel, J.P.; Benozio, M.; Fournier, L.; Denizet, D.; Clement, J.F.

    1987-01-01

    A prospective CT study has been performed in 56 patients in order to define its usefulness in the diagnosis of adrenal masses accompanying an endocrine syndrome. CT data have been compared with clinical, biological and surgical data. CT scan accuracy is variable with different endocrine disorders, better in pheochromocytoma than in Cushing syndrome. In this syndrome, size of the mass and density after contrast media injection may differentiate adenoma from hyperplasia in difficult cases. In hyperaldosteronism, significant differences in densities contribute to the diagnosis between adenoma and hyperplasia.

  7. 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

  8. 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 ...

  9. 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.)

  10. 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

  11. 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...

  12. Adrenal mass in patients who underwent abdominal computed tomography examination

    Directory of Open Access Journals (Sweden)

    Hassan Al-Thani

    2015-01-01

    Full Text Available Background: Adrenal masses are usually discovered incidentally (IAM during abdominal computed tomography (CT. Aims: We aimed to describe the prevalence, management, and outcome of incidentally discovered adrenal mass on radiological investigation. Materials and Methods: A retrospective analysis was conducted to look for IAM identified by abdominal CT performed for other reasons between 2004 and 2008 and were followed for 4 years. IAM patients with known malignancy or clinically evident adrenal disease or overt disease originally missed due to insufficient clinical examination were excluded. Results: A total of 13,115 patients underwent abdominal CT, of which 136 were identified with adrenal mass (69 males and 67 females. Overall, 84 patients had benign IAM and six had primary adrenal carcinoma (all had tumor size ≥4 cm and five were males. Hormonal evaluation was performed in 80 cases, which revealed hypersecretion in 10 cases (six had Conn′s syndrome and four had pheochromocytoma. Males had higher frequency of right-sided IAMs; whereas, left-sided IAM swere more common among females (P = 0.02. Seven patients underwent surgery and all were males (one Conn′s syndrome, one pheochromocytoma, three primary adrenal adenocarcinoma, one benign nonfunctional adenoma, and one metastatic tumor. Only one patient died due to brain metastasis. Conclusion: The overall prevalence of adrenal incidentaloma is 1% in Qatar. Unfortunately, hormonal evaluation, surgical referral, and follow-up are not appropriate in this study. Moreover, screening of IAM warrants more attention to rule out malignancy. This work could be of value as a local auditing for the current management.

  13. Angiolymphoid hyperplasia with follicular mucinosis

    Directory of Open Access Journals (Sweden)

    Joshi Rajiv

    2007-01-01

    Full Text Available Follicular mucinosis occurring along with angiolymphoid hyperplasia with eosinophils (ALHE has been described in a 54-year-old female. The patient presented with pruritic erythematous papules on the left frontoparietal scalp. Histopathological examination showed prominent blood vessels in the dermis lined by plump histiocytoid endothelial cells that were surrounded by a dense lymphoid infiltrate with numerous eosinophils; these findings are typical of angiolymphoid hyperplasia with eosinophils. Features of follicular mucinosis were observed in the same section with several hyperplastic follicular infundibula containing pools of mucin in the infundibular epithelium. The concurrent occurrence of these two distinct histopathological patterns in the same biopsy specimen has been described in only three cases to date.

  14. BENIGN PROSTATIC HYPERPLASIA: UPDATED REVIEW

    OpenAIRE

    Praveen.R

    2013-01-01

    Benign Prostatic Hyperplasia (BPH) is one of the commonest medical conditions affecting the geriatric male population. The enlargement of prostate can lead to various clinical symptoms like difficulty in voiding, urinary retention etc. The symptoms are varied depending on the size of enlargement. The International Prostatic Symptom Score (IPSS) is the gold standard and first step in understanding and diagnosing the disease clinically, but in the recent past there are various other newer tools...

  15. Prostatic Stromal Hyperplasia with Atypia

    OpenAIRE

    Hutchinson, Ryan C.; Wu, Kevin J.; Cheville, John C.; Thiel, David D

    2013-01-01

    Prostatic stromal hyperplasia with atypia (PSHA) is a rare histologic finding diagnosed incidentally on prostate biopsies, transurethral resection specimens, and radical prostatectomy specimens. PSHA has a bizarre histologic appearance and these lesions often raise concern for sarcoma; however, their clinical course is indolent and does not include extraprostatic progression. We discuss a case of PHSA discovered on prostate biopsy performed for an abnormal digital rectal examination and revie...

  16. Prostatic Stromal Hyperplasia with Atypia

    Directory of Open Access Journals (Sweden)

    Ryan C. Hutchinson

    2013-01-01

    Full Text Available Prostatic stromal hyperplasia with atypia (PSHA is a rare histologic finding diagnosed incidentally on prostate biopsies, transurethral resection specimens, and radical prostatectomy specimens. PSHA has a bizarre histologic appearance and these lesions often raise concern for sarcoma; however, their clinical course is indolent and does not include extraprostatic progression. We discuss a case of PHSA discovered on prostate biopsy performed for an abnormal digital rectal examination and review the literature on this rare pathologic finding.

  17. Research on the Changes of Endocrine Hormones in Mammary Cancer and Hyperplasia of Mammary Glands

    Institute of Scientific and Technical Information of China (English)

    CHEN Chengqi

    2002-01-01

    Objective Based on a comparison of endocrine hormones between patients of mammary cancer and those of hyperplasia of mammary glands, a preliminary analysis of the interaction between endocrine hormones and the immune system was oonducted. Methods The experiment involved 50 cases of mammary cancer and hyperplasia of mammary glands each.Blood samples were taken from pre - menopausal and menopausal patients; six kinds of hypophyseal hommones(PRL, GH, TSH,ACTH, FSH and LH) and three kinds of sex hormones ( E2,P and T) were subjected to RIA tests.Results Wilcoxon matchpaired assay and normal approximation of the experiment indicated that the FSH level before pre - menopause and the ACTH level during menopause in patients with mammary canoer were higher that those of patients suffering hyperplasia of mamary glands. Conclusion Statistics show the the normal rhythm between endocrine hormones and the immune system is disrupted in mammary cancer patients, the feedback mechanism of the hypothalamo- hypophyseal- adrenal system is maladjusted,resulting in inhibition of the immune function. Female hormones induce the gene mutation and the sensitivity of the cells is increased, resulting in a significant acceleration of the hyperplasia of cancer cells.

  18. Pseudoangiomatous stromal hyperplasia: an overview.

    Science.gov (United States)

    Virk, Renu K; Khan, Ashraf

    2010-07-01

    Pseudoangiomatous stromal hyperplasia (PASH) of the breast is a benign, proliferative mesenchymal lesion with possible hormonal etiology. It typically affects women in the reproductive age group. Pseudoangiomatous stromal hyperplasia is frequently an incidental histologic finding in breast biopsies performed for other benign or malignant lesions. Rarely, it can present as a firm, painless breast mass, which has been referred to as nodular or tumorous PASH. Grossly, tumorous PASH is a well-circumscribed, firm, rubbery mass with solid, homogenous, gray-white cut surface. On histologic examination, it is characterized by the presence of open slitlike spaces in dense collagenous stroma. The spaces are lined by a discontinuous layer of flat, spindle-shaped myofibroblasts with bland nuclei. The spindle cells express progesterone receptors and are positive for vimentin, actin, and CD34. The most important differential diagnosis on histopathology is angiosarcoma. Pseudoangiomatous stromal hyperplasia discovered incidentally does not require any additional specific treatment. Tumorous PASH is treated by local surgical excision with clear margins and the prognosis is excellent, with minimal risk of recurrence after adequate surgical excision. PMID:20586640

  19. 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

  20. Adrenal Masses in Infancy and Childhood; A Clinical and Radiological Overview

    Directory of Open Access Journals (Sweden)

    M. Mearadji

    2009-01-01

    the secretion of catecholamine with clinical symptoms such as hypertension, sweating, headaches, blurred vision, flushing and tachycardia. Accurate diagnostic imaging is required for a successful surgical management of pheochromocytoma. In such cases sonography should be used only as an initial procedure and because of its often multifocal location added with other modalities such as CT and/or MRI and functional imaging with MIBG. Adrenocortical neoplasms such as carcinomas and adenomas are uncommon in childhood and occur in ages more than 3 years. Usually girls are more often affected than boys. Carcinomas are three times more common than adenomas. The tumors are mostly characterized by endocrine overproduction resulting in virilization in girls and pseudo-precocious puberty in boys. Sonography is used as an initial modality followed by CT or MRI. Adrenal hyperplasia is uncommon in childhood and should be differentiated from a neoplastic mass. It can be either primary or secondary. An example of primary adrenal hyperplasia is Cushing syndrome. The aim of this presentation is to give an overview of all the above-mentioned adrenal masses based on our own experience. A retrospective study of 30 selected cases of neurogenic adrenal tumors is discussed. Less common adrenal tumors such as pheochromocytoma, adrenal carcinoma and adenoma and Cushing syndrome are briefly illustrated.  

  1. Lipomatosis: a diverse form of hemifacial hyperplasia

    Energy Technology Data Exchange (ETDEWEB)

    Arora, Preeti Chawla; Umarji, Hemant R. [Dept. of Oral Medicine, Diagnosis and Radiology, Government Dental College and Hospital, Mumbai (India); Arora, Aman [Dept. of Prosthodontics, Sri Guru Ram Das Institute of Dental Sciences and Research, Amritsar (India); Ramaswami, Easwaran [Oral Medicine, Diagnosis and Radiology, Dr. D.Y. Patil Dental College and Hospital, Navi Mumbai (India)

    2012-09-15

    A case of hemifacial hyperplasia that presented with muscular, skeletal, and dental hyperplasia along with lipomatous infiltration was described. Advanced imaging was useful in identifying the lipomatous infiltration present in the lesion, which raises the possibility of lipomatosis having a diverse presentation in hemifacial hyperplasia. As there was a scarcity of related literature in the field of dentomaxillofacial radiology, this report would make us familiar with its computed tomographic and magnetic resonance image findings.

  2. Unilateral Condylar Hyperplasia of the Mandible

    Directory of Open Access Journals (Sweden)

    Malachovsky I

    2015-12-01

    Full Text Available Condylar hyperplasia (CH of the mandible is a rare pathology that occurs at the head of the condyle and can lead to facial asymmetry affecting occlusion and possible association with pain and dysfunction. Unilateral condylar hyperplasia is an uncommon condition of unknown aetiology, proper diagnosis of which has to be established, as the patients may look for surgical help. A rare case of unilateral condylar hyperplasia of the mandible is reported here.

  3. Focal Epithelial Hyperplasia. A Case Report

    Directory of Open Access Journals (Sweden)

    Rafael Pila Pérez

    2014-02-01

    Full Text Available Focal epithelial hyperplasia, also known as Heck's disease, is relatively rare, occurring mostly in children and adolescents. A case of a 20 year-old female patient treated at the Manuel Ascunce Domenech University Hospital in Camagüey due to papular lesions, which had evolved for ten months, is presented. Other viral diseases were ruled out; however based on histological studies, it was concluded that she suffered from Heck disease, which is frequently treated by dentists, but little known among pediatricians, internists and dermatologists. Because of its etiology, many cases are related to human papilloma virus infection. When the disease evolves, treatment can involve excision, laser surgery or cryotherapy. The latter method was used in this patient with satisfactory results, as she is completely asymptomatic.

  4. Ganglioneuroma of the adrenal gland and retroperitoneum: A case report

    Directory of Open Access Journals (Sweden)

    Iswanto Sucandy

    2011-01-01

    Full Text Available Context: Ganglioneuromas are benign tumors of the sympathetic nervous system that rarely arise in the adrenal gland. Majority of cases are detected incidentally since they are usually asymptomatic. Up to the current era of laparoscopic adrenal mass excision, this unusual entity has not been adequately reported in the surgical literature. Case Report: A 51 year old male with history of hypertension was found to have abdominal bruit during a regular physical examination. A 4 cm right adrenal mass with upper pole calcification and a 6 cm retro-pancreatic mass were subsequently found on a computed tomography scan. Endoscopic ultrasound-guided needle biopsy was indeterminate. Preoperative endocrine evaluation showed mildly elevated vanillyl mandelic acid with normal 24-hour cathecolamine, metanephrine and cortisol levels. Histopathologic examination after an uneventful laparoscopic excision was consistent with ganglioneuroma. Conclusions: Ganglioneuroma occurs rarely in adrenal gland and preoperative diagnosis is difficult since symptoms are usually nonspecific. Due to widespread utilization of abdominal imaging, however, it should be included in differential diagnosis of adrenal or retroperitoneal mass. Histopathologic examination is currently the mainstay of diagnosis.

  5. Ganglioneuroma of the adrenal gland and retroperitoneum: A case report

    Directory of Open Access Journals (Sweden)

    Iswanto Sucandy

    2011-07-01

    Full Text Available Context: Ganglioneuromas are benign tumors of the sympathetic nervous system that rarely arise in the adrenal gland. Majority of cases are detected incidentally since they are usually asymptomatic. Up to the current era of laparoscopic adrenal mass excision, this unusual entity has not been adequately reported in the surgical literature. Case Report: A 51 year old male with history of hypertension was found to have abdominal bruit during a regular physical examination. A 4 cm right adrenal mass with upper pole calcification and a 6 cm retro-pancreatic mass were subsequently found on a computed tomography scan. Endoscopic ultrasound-guided needle biopsy was indeterminate. Preoperative endocrine evaluation showed mildly elevated vanillyl mandelic acid with normal 24-hour cathecolamine, metanephrine and cortisol levels. Histopathologic examination after an uneventful laparoscopic excision was consistent with ganglioneuroma. Conclusions: Ganglioneuroma occurs rarely in adrenal gland and preoperative diagnosis is difficult since symptoms are usually nonspecific. Due to widespread utilization of abdominal imaging, however, it should be included in differential diagnosis of adrenal or retroperitoneal mass. Histopathologic examination is currently the mainstay of diagnosis.

  6. 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

  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. Imaging of rare medullary adrenal tumours in adults.

    Science.gov (United States)

    Maciel, C A; Tang, Y Z; Coniglio, G; Sahdev, A

    2016-05-01

    Although adrenal medullary tumours are rare, they have important clinical implications. They form a heterogeneous group of tumours, ranging from benign, non-secretory, incidental masses to hormonally active tumours presenting acutely, or malignant tumours with disseminated disease and a poor prognosis. Increasingly, benign masses are incidentally detected due to the widespread use of imaging and routine medical check-ups. This review aims to illustrate the multimodality imaging appearances of rare adrenal medullary tumours, excluding the more common phaeochromocytomas, with clues to the diagnosis and to summarise relevant epidemiological and clinical data. Careful correlation of clinical presentation, hormone profile, and various imaging techniques narrow the differential diagnosis. Image-guided percutaneous adrenal biopsy can provide a definitive diagnosis, allowing for conservative management in selected cases. A close collaboration between the radiologist, endocrinologist, and surgeon is of the utmost importance in the management of these tumours. PMID:26944698

  9. 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

  10. 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.)

  11. 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)

  12. Management of benign prostatic hyperplasia with silodosin

    Directory of Open Access Journals (Sweden)

    Tomonori Yamanishi

    2009-08-01

    Full Text Available Tomonori Yamanishi1, Tomoya Mizuno1, Takao Kamai1, Ken-ichiro Yoshida1, Ryuji Sakakibara2, Tomoyuki Uchiyama31Department of Urology, Dokkyo Medical University, Tochigi, Japan; 2Department of Neurology, Sakura Hospital, Toho University, Toho, Japan; 3Department of Neurology, Chiba University, Chiba, JapanAbstract: It has been reported that blockade of α1A-adrenoceptor (AR relieves bladder outlet obstruction, while blockade of α1D-AR is believed to alleviate storage symptoms due to detrusor overactivity. Silodosin, (--1-(3-hydroxypropyl-5-[(2R-2-({2-[2-(2,2,2trifluoroethoxy phenoxy]ethyl}aminopropyl]-2,3-dihydro-1H-indole-7- carboxamide, is a new α1A-AR selective antagonist. Silodosin is highly selective for the α1A-AR subtype, showing an affinity for the α1A-AR that is 583- and 55.5-fold higher than its affinity for the α1B- and α1D-ARs, respectively. In randomized, double-blind, placebo-controlled phase III studies performed in Japan and the United States, silodosin has been shown to be effective for both storage and voiding symptoms associated with benign prostatic hyperplasia. Early effects of silodosin (after 2–6 hours or day 1 on lower urinary tract symptoms have also been reported. In urodynamic studies, detrusor overactivity disappeared in 40% and improved in 35% of patients after administration. In pressure flow studies, the grade of obstruction on the International Continence Society nomogram showed improvement in 56% of patients. The rate of adverse events in the silodosin, tamsulosin and placebo groups was 88.6%, 82.3%, and 71.6%, respectively. The most common adverse event was (mostly mild abnormal ejaculation (28.1%. However, few patients (2.8% discontinued silodosin because of abnormal ejaculation. Orthostatic hypotension showed a similar incidence in the silodosin (2.6% and placebo (1.5% groups. In conclusion, silodosin improves detrusor overactivity and obstruction and thus may be effective for both storage and voiding

  13. 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, ...

  14. 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)

  15. Solitary Atypical Adenomatous Hyperplasia in a 12-Year-Old Girl

    OpenAIRE

    Jin, Moran; Lee, Yang-Haeng; Kim, Bomi; Yoon, Young Chul; Wi, Jin Hong

    2016-01-01

    Atypical adenomatous hyperplasia is a premalignant lesion reflecting a focal proliferation of atypical cells. These lesions are usually observed as incidental findings in lungs that have been resected due to other conditions, such as lung cancer. We report the youngest case of atypical adenomatous hyperplasia on record in a 12-year-old girl. In this patient, the lesion was found in association with pneumothorax.

  16. Solitary Atypical Adenomatous Hyperplasia in a 12-Year-Old Girl

    Science.gov (United States)

    Jin, Moran; Lee, Yang-Haeng; Kim, Bomi; Yoon, Young Chul; Wi, Jin Hong

    2016-01-01

    Atypical adenomatous hyperplasia is a premalignant lesion reflecting a focal proliferation of atypical cells. These lesions are usually observed as incidental findings in lungs that have been resected due to other conditions, such as lung cancer. We report the youngest case of atypical adenomatous hyperplasia on record in a 12-year-old girl. In this patient, the lesion was found in association with pneumothorax. PMID:27065090

  17. 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

  18. Anatomy of melancholia: focus on hypothalamic-pituitary-adrenal axis overactivity and the role of vasopressin.

    LENUS (Irish Health Repository)

    Dinan, Timothy G

    2012-02-03

    Overactivity of the hypothalamic-pituitary-adrenal (HPA) axis characterized by hypercortisolism, adrenal hyperplasia and abnormalities in negative feedback is the most consistently described biological abnormality in melancholic depression. Corticotropin-releasing hormone (CRH) and arginine vasopressin (AVP) are the main secretagogues of the HPA\\/stress system. Produced in the parvicellular division of the hypothalamic paraventricular nucleus the release of these peptides is influenced by inputs from monoaminergic neurones. In depression, anterior pituitary CRH1 receptors are down-regulated and response to CRH infusion is blunted. By contrast, vasopressin V3 receptors on the anterior pituitary show enhanced response to AVP stimulation and this enhancement plays a key role in maintaining HPA overactivity.

  19. 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.

  20. Transformation and mass hyperplasia technique of the garden plant (lily) by radiation and so forth. Mass hyperplasia of the lily using tissue culture

    International Nuclear Information System (INIS)

    For an aim of more uniform child bulb production and good quality kind conservation using tissue culture of the lily, some hyperplasia from organs over ground of the lily were tried. In particular, optimum culture media with higher hyperplasia rate of the child bulb, redifferentiation due to difference among kinds of the lilies, and difference of hyperplasia of the child bulbs were investigated. As a result, it was found that pollution due to various germs attached to used materials often occurs, that efficiency obtainable for initial child bulb by redifferentiation from the organs was low at 20%, and that pollution due to various germs was often found at 25degC of cultivation temperature, which was inferior to that at 20degC. And, when conducting mass hyperplasia of the lily using tissue culture, an optimum culture medium of formation and hyperplasia of child bulb could be obtained for its each kind. As a result of conducting some investigations on configuration of the lily nourished from its child bulb and flowered by the tissue culture, it was also found that cultured bulb had the same character as its parent bulb had. (G.K.)

  1. A case of bilateral aldosterone-producing adenomas differentiated by segmental adrenal venous sampling for bilateral adrenal sparing surgery.

    Science.gov (United States)

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

    2016-06-01

    Primary aldosteronism due to unilateral aldosterone-producing adenoma (APA) is a surgically curable form of hypertension. Bilateral APA can also be surgically curable in theory but few successful cases can be found in the literature. It has been reported that even using successful adrenal venous sampling (AVS) via bilateral adrenal central veins, it is extremely difficult to differentiate bilateral APA from bilateral idiopathic hyperaldosteronism (IHA) harbouring computed tomography (CT)-detectable bilateral adrenocortical nodules. We report a case of bilateral APA diagnosed by segmental AVS (S-AVS) and blood sampling via intra-adrenal first-degree tributary veins to localize the sites of intra-adrenal hormone production. A 36-year-old man with marked long-standing hypertension was referred to us with a clinical diagnosis of bilateral APA. He had typical clinical and laboratory profiles of marked hypertension, hypokalaemia, elevated plasma aldosterone concentration (PAC) of 45.1 ng dl(-1) and aldosterone renin activity ratio of 90.2 (ng dl(-1) per ng ml(-1 )h(-1)), which was still high after 50 mg-captopril loading. CT revealed bilateral adrenocortical tumours of 10 and 12 mm in diameter on the right and left sides, respectively. S-AVS confirmed excess aldosterone secretion from a tumour segment vein and suppressed secretion from a non-tumour segment vein bilaterally, leading to the diagnosis of bilateral APA. The patient underwent simultaneous bilateral sparing adrenalectomy. Histopathological analysis of the resected adrenals together with decreased blood pressure and PAC of 5.2 ng dl(-1) confirmed the removal of bilateral APA. S-AVS was reliable to differentiate bilateral APA from IHA by direct evaluation of intra-adrenal hormone production. PMID:26538381

  2. Management of Benign Prostatic Hyperplasia.

    Science.gov (United States)

    Kim, Eric H; Larson, Jeffrey A; Andriole, Gerald L

    2016-01-01

    Benign prostatic hyperplasia (BPH) and associated lower urinary tract symptoms (LUTS) commonly affect older men. Age-related changes associated with metabolic disturbances, changes in hormone balance, and chronic inflammation may cause BPH development. The diagnosis of BPH hinges on a thorough medical history and focused physical examination, with attention to other conditions that may be causing LUTS. Digital rectal examination and urinalysis should be performed. Other testing may be considered depending on presentation of symptoms, including prostate-specific antigen, serum creatinine, urine cytology, imaging, cystourethroscopy, post-void residual, and pressure-flow studies. Many medical and surgical treatment options exist. Surgery should be reserved for patients who either have failed medical management or have complications from BPH, such as recurrent urinary tract infections, refractory urinary retention, bladder stones, or renal insufficiency as a result of obstructive uropathy. PMID:26331999

  3. Oxidative stress in prostate hyperplasia and carcinogenesis.

    Science.gov (United States)

    Udensi, Udensi K; Tchounwou, Paul B

    2016-01-01

    Prostatic hyperplasia (PH) is a common urologic disease that affects mostly elderly men. PH can be classified as benign prostatic hyperplasia (BPH), or prostate cancer (PCa) based on its severity. Oxidative stress (OS) is known to influence the activities of inflammatory mediators and other cellular processes involved in the initiation, promotion and progression of human neoplasms including prostate cancer. Scientific evidence also suggests that micronutrient supplementation may restore the antioxidant status and hence improve the clinical outcomes for patients with BPH and PCa. This review highlights the recent studies on prostate hyperplasia and carcinogenesis, and examines the role of OS on the molecular pathology of prostate cancer progression and treatment. PMID:27609145

  4. Role of ACTH in the Interactive/Paracrine Regulation of Adrenal Steroid Secretion in Physiological and Pathophysiological Conditions.

    Science.gov (United States)

    Lefebvre, Hervé; Thomas, Michaël; Duparc, Céline; Bertherat, Jérôme; Louiset, Estelle

    2016-01-01

    In the normal human adrenal gland, steroid secretion is regulated by a complex network of autocrine/paracrine interactions involving bioactive signals released by endothelial cells, nerve terminals, chromaffin cells, immunocompetent cells, and adrenocortical cells themselves. ACTH can be locally produced by medullary chromaffin cells and is, therefore, a major mediator of the corticomedullary functional interplay. Plasma ACTH also triggers the release of angiogenic and vasoactive agents from adrenocortical cells and adrenal mast cells and, thus, indirectly regulates steroid production through modulation of the adrenal blood flow. Adrenocortical neoplasms associated with steroid hypersecretion exhibit molecular and cellular defects that tend to reinforce the influence of paracrine regulatory loops on corticosteroidogenesis. Especially, ACTH has been found to be abnormally synthesized in bilateral macronodular adrenal hyperplasia responsible for hypercortisolism. In these tissues, ACTH is detected in a subpopulation of adrenocortical cells that express gonadal markers. This observation suggests that ectopic production of ACTH may result from impaired embryogenesis leading to abnormal maturation of the adrenogonadal primordium. Globally, the current literature indicates that ACTH is a major player in the autocrine/paracrine processes occurring in the adrenal gland in both physiological and pathological conditions. PMID:27489549

  5. 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)

  6. Schwannoma of the adrenal gland

    Directory of Open Access Journals (Sweden)

    Anunayi Jeshtadi

    2014-07-01

    Full Text Available Visceral schwannomas are extremely rare and are usually discov-ered incidentally on USG/CT-Scan. Primary schwannomas of the adrenal gland are extremely uncommon. It has been theorized that they originate from Schwann cells that insulate the nerve fi-bers innervating the adrenal medulla. Histopathological examina-tion coupled with immunohistochemistry provides the definitive diagnosis. A 55 year old normotensive female presented with pain in the right loin since 5 months. Her renal parameters were normal. Contrast enhanced computed tomography of abdomen showed a well delineated 6.5 x 5cms mass at upper pole of her right kidney. 24-hour urinary metanephrine was slightly elevated (3.07mg/24hrs. A decline in Serum cortisol levels was observed following a dexamethasone suppression test (18.89nmol/l. Histopathological examination revealed a spindle cell tumor. Immunohistochemistry showed strong and diffuse positive staining for S-100 with negative expression for CD-117, desmin, CD-34, HMB-45, synaptophysin, chromogranin, cytokeratin, and SMA. Ki-67 index was 2%.A diagnosis of cellular schwannoma of adrenal gland was confirmed.

  7. Adrenal tumors. Principles of imaging and differential diagnostics

    International Nuclear Information System (INIS)

    Adrenal masses are very common and are usually detected incidentally. Less frequently, imaging is performed for the localization of the underlying lesion in the case of endocrine disease. The differentiation between adenomas and non-adenomas is fundamental. Adenomas show a low density on unenhanced computed tomography (CT) and a rapid washout of contrast agents. In magnetic resonance imaging (MRI) adenomas are characterized by a low signal in opposed phase imaging as compared to in phase imaging. According to the literature a density of less than 10 HU in an adrenal mass has a specificity of 98 % and a sensitivity of 71 % for the presence of an adenoma and MRI is slightly more sensitive. Some adrenal lesions, e.g. cysts or myelolipomas can be diagnosed with high accuracy due to pathognomonic findings. In the majority of cases the synopsis of imaging along with clinical and laboratory findings is necessary for a reliable diagnosis. For the evaluation of an adrenal mass the CT examination should begin with an unenhanced scan, if necessary followed by a washout examination. In the case of MRI in phase and opposed phase imaging are essential components of the examination. (orig.)

  8. 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

  9. 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.

  10. 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...

  11. 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

  12. 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...

  13. Isotretinoin as monotherapy for sebaceous hyperplasia.

    Science.gov (United States)

    Yu, Clara; Shahsavari, Maryam; Stevens, Gloria; Liskanich, Ronald; Horowitz, David

    2010-06-01

    Sebaceous hyperplasia is a common benign lesion composed of sebaceous glands. It is characterized as yellow or flesh-toned papules with central umbilication. The authors report the case of a 57-year-old Caucasian female with a longstanding history of sebaceous hyperplasia refractory to treatment on her face. Isotretionoin was used as an alternative therapy and was found to be effective. PMID:20645535

  14. 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.)

  15. 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.

  16. Nocturia and benign prostatic hyperplasia

    Directory of Open Access Journals (Sweden)

    Laketić Darko

    2008-01-01

    Full Text Available Background/Aim. Nocturia often occurs in patients with benign prostate hyperplasia (BPH. The aim of the study was to investigate the frequency of nocturia in patients with BPH. Nocturia and other factors associated with it were also investigated. Methods. Forty patients with the confirmed diagnosis of BPH were studied. Transurethral and transvesical prostatectomy were performed in all the patients. Symptoms were evaluated with the International Prostate Symptom Score before, as well as three and six months after the surgery. All the results were compared with the control group. Results. There was no statistically significant difference between the patients before and after the surgery regarding nocturia. There was, however, a statistically significant difference between the operated patients and the control group regarding nocturia, as well as a statistically significant correlation between noctruia and the age of the patients in both the investigated and the control group. A correlation also existed between nocturia and the prostatic size. Conclusion. There was no statistically significant improvement in symptoms of nocturia after the surgery. It is necessary to be very careful in decision making in patients with nonabsolute indiction for surgery and isolated bothersome symptom of nocturia. Age of a patient should also be considered in the evaluation of favorable result of the surgery because of a significant correlation between noctura and the age of a patient.

  17. Visual laser coagulation for benign prostatic hyperplasia

    International Nuclear Information System (INIS)

    A total of 28 patients with symptomatic bladder outlet obstruction due to benign prostatic hyperplasia were treated by visual laser coagulation (VLAP) performed with the Myriadlase side-firing neodymium: YAG laser fibre at 40 watts power. The treatment was performed as an outpatient procedure using intraurethral gel anaesthesia and light intravenous sedation and analgesia. Prostatic volume was 32 g and 650 joule per gram prostatic tissue was administered. The patients were evaluated at mean 9.2 weeks. The mean operative time was 34 minutes. The procedure was very gentle, all patients tolerated it well and there was no bleeding. Most patients experienced some dysuria for three to four weeks after the procedure, two had severe symptoms. Two patients remained in retention and required transurethral resection. The rest expressed subjective satisfaction with the results. Peak urinary flow increased from mean 9.0 ml/sec preoperatively to 15.4 ml/sec; a mean increase of 78%. One patients developed clinical urinary tract infection. There were no other complications of clinical significance. 19 refs., 1 fig

  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. Primary hyperparathyroidism: adenoma or hyperplasia

    Directory of Open Access Journals (Sweden)

    Betancourt-Piñeres Aiken Felipe

    2012-12-01

    Full Text Available Introduction: primary hyperparathyroidism (PH is a symptomatic or asymptomaticclinical entity, characterized by the autonomous production of parathyroid hormone (PTH. Its classical presentation exhibits an increase of the serum calcium andparathyroid hormone levels. Parathyroid scintigrafy, among other imaging modalities,is frequently used to detect the hyperfunctioning glands.Clinical case: number 1. Female, 69 years old, asymptomatic, hypertension of recentonset, osteopenia, increased intact PTHi level and serum calcium concentration, andlow phosphate level, multinodular goiter (ultrasound, and focal increased uptake inthe inferolateral aspect of thyroid right lobe (parathyroid scintigraphy consistent withparathyroid adenoma, confirmed by surgery and histopathology examination. Number2. Female, 69 years old, with history of chronic hypertension, nephrolithiasis andpartial thyroidectomy, actually with chronic diarrhea and headaches, erosive chronicduodenitis (endoscopy, increase of PTHi and serum calcium levels, changes in contrastneck CT scan and US consistent with thyroidectomy, and parathyroid scintigraphy withthree areas of focal increased isonitrile uptake consistent with parathyroid hyperplasia,confirmed by surgery and histopathologic findings.Conclusion: the parathyroid Scintigraphy (planar and Spect, double phase and doubletracer done in combination, have good sensibility, specificity and diagnostic accuracyof parathyroid adenomas and hyperplasia, improving surgical procedures, with minimalincision or invasion, ad quality of life of hyperparathyroidism patients. Rev.cienc.biomed. 2012;3(2:350-354RESUMEN:Introducción: el hiperparatiroidismo primario (HP es una entidad clínica sintomáticao asintomática, caracterizada por la producción autónoma de parathormona (PTH.Se presenta elevación del calcio sérico y de la parathormona (PTH, aunque estaúltima puede permanecer dentro en los rangos normales altos. La gammagraf

  20. 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...

  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. Ultrasonographic detection of adrenal gland tumor and ureterolithiasis in a guinea pig

    International Nuclear Information System (INIS)

    A 5-year-old guinea pig was presented to the University of Berne Small Animal Radiology Department for an ultrasound examination of the abdomen to confirm a suspected diagnosis of Cushing's syndrome. The patient had bilateral alopecia, was apathic and obese. Ultrasonographically, a tumor of the left adrenal gland, obstruction of the left ureter by an ureterolith, as well as hydronephrosis of the left kidney were detected. During surgery to relieve the ureteral obstruction the adrenal gland tumor was removed. The guinea pig died post-operatively due to blood loss. The left adrenal gland tumor was found histopathologically to be an adenoma and the right adrenal gland also had multiple small adenomas, but grossly appeared normal. The ureterolith was analyzed and found by x-ray diffraction to consist of calcium carbonate

  4. 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

  5. A Rare Presentation of Primary Hyperparathyroidism with Concurrent Aldosterone-Producing Adrenal Carcinoma

    Directory of Open Access Journals (Sweden)

    Mario Molina-Ayala

    2015-01-01

    Full Text Available Aldosterone-producing adrenocortical carcinomas are an extremely rare cause of hyperaldosteronism (<1%. Coexistence of different endocrine tumors warrants additional screening for multiple endocrine neoplasia syndromes, especially in young patients with large or malignant masses. We present the case of a 40-year-old man with a history of hypertension that presented with an incidental left adrenal tumor during an ultrasound performed for nephrolithiasis. Biochemical assessment showed a mildly elevated calcium (11.1 mg/dL, high parathyroid hormone, and a plasma aldosterone concentration/plasma renin activity ratio of 124.5 (normal < 30, compatible with primary hyperparathyroidism with a concomitant primary hyperaldosteronism. A Tc99m-MIBI scintigraphy showed an abnormally increased tracer uptake in the right superior parathyroid and abdominal computed tomography confirmed a left adrenal tumor of 20 cm. The patient underwent parathyroidectomy and adrenalectomy with final pathology reports of parathyroid hyperplasia and adrenal carcinoma with biochemical remission of both endocrinopathies. He was started on chemotherapy, but the patient developed a frontal cortex and an arm metastasis and finally died less than one year later.

  6. 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.

  7. 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

  8. 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.

  9. Adrenal insufficiency in a child with MELAS syndrome.

    Science.gov (United States)

    Afroze, Bushra; Amjad, Nida; Ibrahim, Shahnaz H; Humayun, Khadija Nuzhat; Yakob, Yusnita

    2014-11-01

    Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) are established subgroups of mitochondrial encephalomyopathy. m.3243A>G a common point mutation is detected in tRNA in majority of patients with MELAS phenotype whereas m.8344A>G point mutation in tRNA is observed, in MERRF phenotype. Adrenal insufficiency has not been reported in mitochondrial disease, except in Kearns-Sayre Syndrome (KSS), which is a mitochondrial deletion syndrome. We report an unusual presentation in a five year old boy who presented with clinical phenotype of MELAS and was found to have m.8344A>G mutation in tRNA. Addison disease was identified due to hyperpigmentation of lips and gums present from early childhood. This is the first report describing adrenal insufficiency in a child with MELAS phenotype. PMID:24508408

  10. Secondary adrenal insufficiency: an overlooked cause of hyponatremia.

    Science.gov (United States)

    Jessani, Naureen; Jehangir, Waqas; Behman, Daisy; Yousif, Abdalla; Spiler, Ira J

    2015-04-01

    Failure to thrive in an elderly patient is often attributed to depression, especially when a patient does not have any chronic diseases or if there is no apparent medical reason to justify poor appetite, cachexia and generalized weakness. Hyponatremia often occurs in such patients and a thorough evaluation as to its etiology should be sought before committing to a premature diagnosis, which at the time may seem more plausible. We report a patient who presented with depression, weight loss and persistent hyponatremia, evaluation of which revealed the cause to be due to secondary adrenal insufficiency, which when treated, resulted in resolution of the symptom complex. Therefore, in our case report, we elucidate the importance of pursuing further evaluation to rule out adrenal insufficiency as a medical cause of depression, especially in the presence of hyponatremia, which is often overlooked and is generally attributed to dehydration in the setting of failure to thrive or SIADH in patients who are on psychotropic medications. PMID:25699130

  11. Benign Prostatic Hyperstatic Hyperplasia (BPH) (Beyond the Basics)

    Science.gov (United States)

    ... names for benign prostatic hyperplasia include benign prostatic hypertrophy, an enlarged prostate, and BPH. BPH occurs only ... prostatic hyperplasia" .) Alpha blockers — These medications relax the muscle of the prostate and bladder neck, which allows ...

  12. Neoplasia versus hyperplasia of the retinal pigment epithelium

    DEFF Research Database (Denmark)

    Heegaard, Steffen; Larsen, J.N.B.; Fledelius, Hans C.;

    2001-01-01

    ophthalmology, retinal pigment epithelium, adenoma, tumor-like hyperplasia, histology, immunohistochemistry, tumor, neoplasm, ultrasonography......ophthalmology, retinal pigment epithelium, adenoma, tumor-like hyperplasia, histology, immunohistochemistry, tumor, neoplasm, ultrasonography...

  13. Pseudoepitheliomatous Hyperplasia in a Red Pigment Tattoo

    Science.gov (United States)

    Kazlouskaya, Viktoryia

    2015-01-01

    Red pigment tattoos are known to cause pseudoepitheliomatous hyperplasia in the skin, frequently simulating squamous cell carcinoma or keratoacanthoma. Herein, the authors present two additional cases of red pigment tattoo pseudoepitheliomatous hyperplasia in which they noted a lichenoid tissue reaction. They reviewed the previously published cases and observed a lichenoid reaction in the histopathological images similar to hypertrophic lichen planus. The authors suggest that these reactions might best be referred to as “lichenoid reaction with pseudoepitheliomatous hyperplasia” or “hypertrophic lichen planus-like reaction.” Accordingly, recognition of an inflammatory component may allow additional treatment options. PMID:26705448

  14. [Therapeutic problem. Angiolymphoid hyperplasia with eosinophilia].

    Science.gov (United States)

    Bunse, T; Kuhn, A; Groth, W; Mahrle, G

    1993-04-01

    A 35-year-old female patient suffered from angiolymphoid hyperplasia with eosinophilia for 9 years, with multiple, exophytic tumours on her left pinna and the surrounding skin. Systemic treatment with gamma interferon and glucocorticoids, intralesional injections of glucocorticoids and argon laser therapy had no effect. After the tumours had been pared away by electrocautery the patient was free of symptoms for 1 year and then developed a small local recurrence. Recurrences are common in angiolymphoid hyperplasia with eosinophilia. Malignant transformation has not been observed. We therefore regard non-radical surgery as the therapy of choice. PMID:8482602

  15. Thymic hyperplasia - clinical course and imaging diagnostic

    International Nuclear Information System (INIS)

    The real thymic hyperplasia is benign disease sometimes simulating malignant tumours. The aim of this study is to analyse the clinical symptoms of real thymic hyperplasia and the results from imaging diagnostic based on our clinical material. Clinical material include 27 children, aged from two months to 15 years, admitted in department of thoracic surgery, for a period of 20 years (1985 - 2004). We retrospectively analyze the clinical signs and results from X-ray investigation, CT (Siemens Somatom DRG and Philips Secura) and echocardiography (Acuson TX, 5 and 7 MHz). We discuss the diagnostic value of different methods as well as typical and atypical findings. (authors)

  16. Focal nodular hyperplasia and hepatocellular adenoma

    International Nuclear Information System (INIS)

    Focal nodular hyperplasia (FNH) and hepatocellular adenoma (HCA) are liver lesions of hepatocellular origin. The FNH is a commonly occurring hepatic lesion whereas HCA is very rare. Non-invasive differentiation between HCA subtypes and atypical FNH may pose a diagnostic challenge as both entities predominantly occur in middle-aged female patients. The conventional imaging modalities include ultrasound (US), computed tomography (CT) and magnetic resonance imaging (MRI). Distinguishing FNH from HCA is of great importance clinically as FNH is considered to be a benign lesion and needs no further management. In contrast HCA is considered to be a borderline tumor due to the risk of hemorrhage, growth and even malignant transformation and requires individualized management. The abovementioned radiological procedures usually enable an accurate and certain diagnosis of a typical FNH to be achieved. In cases of atypical FNH, particularly in patients with a clinical history of malignancy, these imaging modalities are insufficient to establish a clear diagnosis. In this scenario, the use of modern hepatobiliary contrast-enhanced MRI will enable a differentiation between FNH and metastasis with a high sensitivity and specificity. Furthermore, it allows a differentiation of FNH from 90 % of adenoma subtypes. This article describes the histopathological and radiological features of these lesions and explains the advantages and limitations of various imaging modalities used for the diagnosis and differentiation of these entities. The new classification of HCAs according to phenotype and genotype and their imaging features, as well as different enhancement patterns, are described. The correlation between HCA subtypes and their individual management are also discussed. (orig.)

  17. 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)

  18. 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

  19. 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)

  20. 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

  1. Adrenal Disorders and the Paediatric Brain: Pathophysiological Considerations and Clinical Implications

    Directory of Open Access Journals (Sweden)

    Vincenzo Salpietro

    2014-01-01

    Full Text Available Various neurological and psychiatric manifestations have been recorded in children with adrenal disorders. Based on literature review and on personal case-studies and case-series we focused on the pathophysiological and clinical implications of glucocorticoid-related, mineralcorticoid-related, and catecholamine-related paediatric nervous system involvement. Childhood Cushing syndrome can be associated with long-lasting cognitive deficits and abnormal behaviour, even after resolution of the hypercortisolism. Exposure to excessive replacement of exogenous glucocorticoids in the paediatric age group (e.g., during treatments for adrenal insufficiency has been reported with neurological and magnetic resonance imaging (MRI abnormalities (e.g., delayed myelination and brain atrophy due to potential corticosteroid-related myelin damage in the developing brain and the possible impairment of limbic system ontogenesis. Idiopathic intracranial hypertension (IIH, a disorder of unclear pathophysiology characterised by increased cerebrospinal fluid (CSF pressure, has been described in children with hypercortisolism, adrenal insufficiency, and hyperaldosteronism, reflecting the potential underlying involvement of the adrenal-brain axis in the regulation of CSF pressure homeostasis. Arterial hypertension caused by paediatric adenomas or tumours of the adrenal cortex or medulla has been associated with various hypertension-related neurological manifestations. The development and maturation of the central nervous system (CNS through childhood is tightly regulated by intrinsic, paracrine, endocrine, and external modulators, and perturbations in any of these factors, including those related to adrenal hormone imbalance, could result in consequences that affect the structure and function of the paediatric brain. Animal experiments and clinical studies demonstrated that the developing (i.e., paediatric CNS seems to be particularly vulnerable to alterations induced by

  2. 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.)

  3. 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

  4. Early diagnosis of and surgical strategy for adrenal medullary disease in MEN II gene carriers

    International Nuclear Information System (INIS)

    Sixteen multiple endocrine neoplasia type II (MEN II) gene carriers--12 who had undergone thyroidectomy because of medullary carcinoma of the thyroid and 4 whose thyroid glands had been removed because of C cell hyperplasia--were examined for the presence of pheochromocytomas. No patient had sought medical advice for pheochromocytoma symptoms. Fourteen patients had MEN IIa syndromes, one patient had a MEN IIb and another patient had a mixed syndrome of von Recklinghausen's neurofibromatosis and MEN II. Eight patients had undergone unilateral adrenalectomy for pheochromocytoma 11 +/- 4 years before. The patients underwent clinical examination, determination of the urinary excretion of catecholamines and metabolites, and 131I-metaiodobenzylguanidine (131I-MIBG) and CAT scans. 131I-MIBG scanning was performed with images 1, 4, and 7 days after the radionuclide injection. In seven of eight patients who had undergone unilateral adrenalectomies, the 131I-MIBG scans showed accumulation of the radionuclide in the remaining adrenal gland. Bilateral adrenal accumulation of the radionuclide was demonstrated in seven of eight MEN IIa gene carriers who had not undergone adrenalectomy. Five patients, two of whom had undergone adrenalectomy, were found to have unilateral pheochromocytomas less than 2 cm in diameter. Only one of these five patients had an elevated excretion of urinary catecholamines. Between day 4 and day 7 after 131I-MIBG injection, adrenal glands with pheochromocytomas increased their relative accumulation of the radionuclide significantly more (p less than 0.02) than did adrenal glands without any demonstrable pheochromocytomas. All the pheochromocytomas were viewed by means of CAT scans

  5. 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. ...

  6. 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)

  7. 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.

  8. Pseudoepitheliomatous Hyperplasia: Relevance in Oral Pathology

    OpenAIRE

    Sarangarajan, R; Vedam, V K Vaishnavi; Sivadas, G; Krishnaraj, R.; Sarangarajan, Anuradha; Shanmugam, K. T.

    2015-01-01

    Pseudoepitheliomatous hyperplasia (PEH), a neglected entity by oral pathologist possesses utmost importance in the field of research. Of all the investigative challenges, PEH, a reactive epithelial proliferation is seen secondary to lesions with infectious, inflammatory, reactive, and degenerative origin. Small sized samples, incomplete excision, improper orientation, and dense inflammatory changes render diagnostic confront to the oral pathologist in exclusion of frankly invasive malignant l...

  9. Pseudoangiomatous stromal hyperplasia (PASH): a brief review.

    Science.gov (United States)

    Jaunoo, S S; Thrush, S; Dunn, P

    2011-01-01

    Pseudoangiomatous stromal hyperplasia (PASH) is a benign entity of the breast and typically found incidentally. It warrants thorough investigation in order to exclude more sinister pathology masquerading as this form of benign breast disease and can often be managed expectantly without the need for surgical intervention. We provide a brief review of the literature on PASH, discussing its clinicopathological features and management. PMID:20887819

  10. Orally administered nicotine induces urothelial hyperplasia in rats and mice

    International Nuclear Information System (INIS)

    Highlights: • Rats and mice orally administered with nicotine tartrate for total of 4 weeks. • No treatment-related death or whole body toxicity observed in any of the groups. • Urothelium showed simple hyperplasia in treated rats and mice. • No significant change in BrdU labeling index or SEM classification of urothelium. - Abstract: Tobacco smoking is a major risk factor for multiple human cancers including urinary bladder carcinoma. Tobacco smoke is a complex mixture containing chemicals that are known carcinogens in humans and/or animals. Aromatic amines a major class of DNA-reactive carcinogens in cigarette smoke, are not present at sufficiently high levels to fully explain the incidence of bladder cancer in cigarette smokers. Other agents in tobacco smoke could be excreted in urine and enhance the carcinogenic process by increasing urothelial cell proliferation. Nicotine is one such major component, as it has been shown to induce cell proliferation in multiple cell types in vitro. However, in vivo evidence specifically for the urothelium is lacking. We previously showed that cigarette smoke induces increased urothelial cell proliferation in mice. In the present study, urothelial proliferative and cytotoxic effects were examined after nicotine treatment in mice and rats. Nicotine hydrogen tartrate was administered in drinking water to rats (52 ppm nicotine) and mice (514 ppm nicotine) for 4 weeks and urothelial changes were evaluated. Histopathologically, 7/10 rats and 4/10 mice showed simple hyperplasia following nicotine treatment compared to none in the controls. Rats had an increased mean BrdU labeling index compared to controls, although it was not statistically significantly elevated in either species. Scanning electron microscopic visualization of the urothelium did not reveal significant cytotoxicity. These findings suggest that oral nicotine administration induced urothelial hyperplasia (increased cell proliferation), possibly due to a

  11. 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)

  12. Natural history of benign prostate hyperplasia

    Institute of Scientific and Technical Information of China (English)

    WU Shi-liang; LI Ning-chen; XIAO Yun-xiang; JIN Jie; QIU Shao-peng; YE Zhang-qun; KONG Chui-ze; SUN Guang; NA Yan-qun

    2006-01-01

    Background Benign prostate hyperplasia is one of the most common diseases affecting the health of the aging males. Watchful waiting is an acceptable management strategy for benign prostate hyperplasia in which the patient is monitored by the physician but receives no active intervention. The epidemiological data on this are lacking in China. Our study was designed to evaluate the changes of signs and symptoms of patients with benign prostate hyperplasia during management by watchful waiting in China.Methods One hundred and forty-five patients with benign prostate hyperplasia aged > 50 years were enrolled in management by watchful waiting. All the patients were visited every 6 months and were given an International Prostate Symptom Score and Quality of Life questionnaire to complete. They also had uroflowmetry and were assessed using ultrasonography to get the volume of prostate, transition zone and amount of residual urine. The Student's t test, the Chi-square test, and variance analysis were used in the statistical analysis.Results All patients were visited after 6 months, the mean volume of transitional zone was found to haveincreased by 1.6 ml (P<0.01), International Prostate Symptom Score was increased by 0.8 (P<0.01) and Quality of Life was increased by 0.2 (P<0.01), and there was no statistical change in other data. Among these patients,17.9% (26/145) visited again after 12 months when the data failed to show a statistically significant difference among the three groups (0, 6, and 12 months).Conclusions After one year's follow-up, the progression of benign prostate hyperplasia was slow and the clinical data did not undergo much change.

  13. Pharmacological treatment of the benign prostatic hyperplasia

    International Nuclear Information System (INIS)

    Benign prostatic hyperplasia is a common disease in over 50 years-old men consisting in uncontrolled and benign growth of prostatic gland that leads to lower urinary tract symptoms. The etiology of benign prostatic hyperplasia is multifactoral involving the increased conversion of testosterone in dihydrotestosterone by the prostatic 5α-reductase action, which brought about events that encourage the prostate growth (static component) and the increase of the bladder and prostate smooth muscle tone (dynamic component) regulated by the aα1 -adrenoceptors (ADR). The pharmacological treatment of the benign prostatic hyperplasia includes the prostatic 5aα-reductase inhibitors, the aα1-adrenoreceptor blockers, their combined therapy and the phytotherapy. This paper was aimed at presenting the most relevant aspects of the pharmacology of drugs used for treating the benign prostatic hyperplasia, and providing elements to analyze their efficacy, safety and tolerability. To this end, a review was made of the different drugs for the treatment of this pathology and they were grouped according to their mechanism of action. Natural products were included as lipid extracts from Serenoa repens and Pygeum africanum as well as D-004, a lipid extract from Roystonea regia fruits, with proved beneficial effects on the main etiological factors of benign prostatic hyperplasia. D-004 is a prostatic 5a-reductase inhibitor, an aα1-adrenoceptor antagonist, aα 5-lipooxygenase inhibitor and has antioxidant action, all of which reveals a multifactoral mechanism. The results achieved till now indicate that D-004 is a safe and well-tolerated product

  14. 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...

  15. 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.

  16. 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.

  17. 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.

  18. 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.

  19. [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

  20. 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

  1. 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)

  2. Stimulation of Adrenal Chromaffin Cell Proliferation by Hypercalcemia Induced by Intravenous Infusion of Calcium Gluconate in Rats

    OpenAIRE

    Isobe, Kaori; Ito, Tsuneo; Komatsu, Shun-ichiro; Asanuma, Kentaro; Fujii, Etsuko; Kato, Chie; Adachi, Kenji; Kato, Atsuhiko; Sugimoto, Tetsuro; Suzuki, Masami

    2012-01-01

    Increased incidence of adrenal pheochromocytoma is frequently encountered in rat carcinogenicity studies. In some of the studies, the finding is judged to be due to a rat-specific mechanism of carcinogenesis caused by a disturbance of calcium homeostasis. However, direct evidence that the proliferation of chromaffin cells in the adrenal medulla is induced solely by hypercalcemia is not available. In this study, calcium gluconate was intravenously infused for 7 days to rat chromaffin cells by ...

  3. Fibro-epithelial hyperplasia mimicking mucocele.

    Science.gov (United States)

    Jain, K; Singh, B D; Dubey, A; Avinash, A

    2014-01-01

    The effects of chronic local irritation have been seen commonly in the form of fibroma or mucocele in children. We report a ten year old girl with the chief complaint of swelling in the lower right region of labial mucosa which was diagnosed clinically as mucocele and histologically as fibro-epithelial hyperplasia. Surgical excision was done under local anesthesia with no post-operative complication. PMID:25552222

  4. FOCAL EPITHELIAL HYPERPLASIA: HECK’S DISEASE

    OpenAIRE

    Brzeziński Piotr

    2010-01-01

    Heck's disease (focal epithelial hyperplasia) (FEH) is clinically characterized by multiple circumscribed, soft elevated nodules of the oral mucosa. Papules and plaques are usually the color of normal mucosa, but may be pale or, rarely, white. Disease may persist for years, producing a significant reduction in quality of life. Lessions may be located in the area of mucous membranes of the lips, cheeks and tongue. It is believed that the two virus types are responsible for the FEH, are: HPV 1...

  5. Pseudoangiomatous stromal hyperplasia: a case report.

    Science.gov (United States)

    Masannat, Yazan A; Whitehead, Stephen; Hawley, Ian; Apthorp, Lesley; Shah, Elizabeth F

    2010-01-01

    Pseudoangiomatous stromal hyperplasia (PASH) is a rare benign proliferating breast condition. It was first reported in 1986 when Vuitch, Rosen, and Erlandson described nine cases of benign well-circumscribed, breast masses that simulated vascular lesions consisting of mammary stromal proliferations (Vuitch et al. (1986)). Since then there have been few reported cases of PASH in the literature (Taira et al. (2005)). We describe a large PASH, mimicking inflammatory carcinoma in a young lady that was excised with excellent cosmetic results. PMID:21318179

  6. 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

  7. 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.)

  8. 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 ...

  9. 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)

  10. Glucose-6-Phosphate Dehydrogenase Deficiency and Adrenal Hemorrhage in a Filipino Neonate with Hyperbilirubinemia

    Directory of Open Access Journals (Sweden)

    Akira Ohishi

    2013-05-01

    Full Text Available We report on a Filipino neonate with early onset and prolonged hyperbilirubinemia who was delivered by a vacuum extraction due to a prolonged labor. Subsequent studies revealed adrenal hemorrhage and glucose-6-phosphate dehydrogenase (G6PD deficiency. It is likely that asphyxia and resultant hypoxia underlie the occurrence of adrenal hemorrhage and the clinical manifestation of G6PD deficiency and that the presence of the two events explains the early onset and prolonged hyperbilirubinemia of this neonate. Our results represent the importance of examining possible underlying factors for the development of severe, early onset, or prolonged hyperbilirubinemia.

  11. Significance of I-131 norcholesterol scintigraphy for diagnosis of adrenal dysfunction

    International Nuclear Information System (INIS)

    Scintigraphic imaging of adrenocortical function using I-131-norcholesterol (or Se-75-norcholesterol) should be used as a complementary method to morphological imaging procedures like CT-scanning or ultrasound in case of primary hyperaldosteronism or hypercortisolism or if an androgen-producing tumor is suspected. I-131-norcholesterol is especially useful for functional evaluation of equivocal adrenal masses found incidentally. However, due to a high radiation load, a strict indication is required. The technique of selective cathederization of the adrenal veins with consecutive serum hormone analysis is characterized by higher accuracy but is also technically demanding, invasive and carries the risk of severe vascular complications. (orig.)

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

    International Nuclear Information System (INIS)

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

  13. 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)

  14. 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.

  15. 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

  16. 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

  17. Pituitary Adenoma as a Rare Form of Secondary Adrenal Insufficiency. A Case Report

    Directory of Open Access Journals (Sweden)

    Ana María León Blasco

    2014-02-01

    Full Text Available Pituitary adenomas are benign tumors arising from one of the five cell types in the anterior pituitary. Secondary adrenal insufficiency occurs when the adrenal glands do not produce hormones due to the lack of pituary adrenocorticotropic hormone or hypothalamic corticotropin-releasing factor. The case of a 37-year-old female patient who started developing muscle twitching in legs and arms, muscular weakness, fatigue, muscle aches, severe and throbbing hemicrania on the right side, among other symptoms, a year ago is presented. Several tests were performed (cortisol level, adrenocorticotropic hormone, calcium and phosphorus in blood and urine, magnetic resonance imaging of the skull, leading to the diagnosis of pituitary adenoma with isolated adrenocorticotropic hormone deficiency and secondary adrenal insufficiency. Treatment with steroids and calcium supplements ensured a satisfactory recovery.

  18. 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

  19. 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...

  20. [Benign prostate hyperplasia: success and limitations of pharmacological therapy].

    Science.gov (United States)

    Madersbacher, S; Marszalek, M

    2007-10-01

    A profound knowledge of pathogenesis and natural history enables a differentiated therapy for elderly men with lower urinary tract symptoms due to benign prostatic hyperplasia (BPH). The role of phytotherapy is still controversially discussed and, therefore, not clearly recommended by any BPH-guideline. alpha(1)-blockers are the therapy of choice for symptomatic patients at a low risk of disease progression (prostate volume 5ARI) reduce the prostate volume by 20-25% and the risk for acute urinary retention/surgery by more than 50% compared to placebo. Combination therapy (alpha(1)-blocker plus 5ARI) is superior to either monotherapy, though this advantage is only demonstrable after a prolonged treatment period (>12 months). PMID:17426942

  1. Connexin43 Inhibition Prevents Human Vein Grafts Intimal Hyperplasia.

    Directory of Open Access Journals (Sweden)

    Alban Longchamp

    Full Text Available Venous bypass grafts often fail following arterial implantation due to excessive smooth muscle cells (VSMC proliferation and consequent intimal hyperplasia (IH. Intercellular communication mediated by Connexins (Cx regulates differentiation, growth and proliferation in various cell types. Microarray analysis of vein grafts in a model of bilateral rabbit jugular vein graft revealed Cx43 as an early upregulated gene. Additional experiments conducted using an ex-vivo human saphenous veins perfusion system (EVPS confirmed that Cx43 was rapidly increased in human veins subjected ex-vivo to arterial hemodynamics. Cx43 knock-down by RNA interference, or adenoviral-mediated overexpression, respectively inhibited or stimulated the proliferation of primary human VSMC in vitro. Furthermore, Cx blockade with carbenoxolone or the specific Cx43 inhibitory peptide 43gap26 prevented the burst in myointimal proliferation and IH formation in human saphenous veins. Our data demonstrated that Cx43 controls proliferation and the formation of IH after arterial engraftment.

  2. 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)

  3. 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

  4. Small bowel adenocarcinoma mimicking a large adrenal tumor

    Directory of Open Access Journals (Sweden)

    Ivović Miomira

    2013-01-01

    Full Text Available Introduction. Adenocarcinoma of the small bowel is a rare gastrointestinal neoplasm usually affecting the distal duodenum and proximal jejunum. Because of their rarity and poorly defined abdominal symptoms, a correct diagnosis is often delayed. Case Outline. We present a 43-year-old woman admitted at the Clinic for Endocrinology due to a large tumor (over 7 cm of the left adrenal gland. The tumor was detected by ultrasound and confirmed by CT scan. The patient complained of abdominal pain in the left upper quadrant, fatigue and septic fever. Normal urinary catecholamines excluded pheochromocytoma. The endocrine evaluations revealed laboratory signs of subclinical hypercorticism: midnight cortisol 235 nmol/L, post 1 mg - overnight Dexamethasone suppression test for cortisol 95.5 nmol/L and basal ACTH 4.2 pg/mL. Plasma rennin activity and aldosterone were within the normal range. Surgery was performed. Intraoperative findings showed signs of acute peritonitis and a small ulceration of the jejunum below at 70 cm on the anal side from the Treitz’s ligament. Adrenal glands were not enlarged. Patohistology and immunochemistry identified adenocarcinoma of the jejunum without infiltration of the lymphatic nodules. The extensive jejunal resection and lavage of the peritoneum were performed. Due to complications of massive peritonitis, the patient died seven days after surgery. Conclusion. Poorly defined symptoms and a low incidence make the diagnosis of small bowel carcinoma, particularly of the jejunal region, very difficult in spite of the new endoscopic techniques.

  5. 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.

  6. 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.

  7. OTC tamsulosin for benign prostatic hyperplasia.

    Science.gov (United States)

    2010-10-01

    Earlier this year, tamsulosin, an alpha blocker previously only available on prescription, became available for sale by pharmacists as a treatment for functional symptoms of benign prostatic hyperplasia (BPH) in men aged 45-75 years (Flomax Relief MR - Boehringer Ingelheim). A television advert for the over-the-counter (OTC) product claims that it is a "simple and effective" treatment that can relieve symptoms within 1 week, allowing the user to "take control of your annoying pee problems".¹ Here we review the evidence on tamsulosin and assess whether its availability as an OTC product confers worthwhile advantages. PMID:20926447

  8. FOCAL EPITHELIAL HYPERPLASIA: HECK’S DISEASE

    Directory of Open Access Journals (Sweden)

    Brzeziński Piotr

    2010-10-01

    Full Text Available Heck's disease (focal epithelial hyperplasia (FEH is clinically characterized by multiple circumscribed, soft elevated nodules of the oral mucosa. Papules and plaques are usually the color of normal mucosa, but may be pale or, rarely, white. Disease may persist for years, producing a significant reduction in quality of life. Lessions may be located in the area of mucous membranes of the lips, cheeks and tongue. It is believed that the two virus types are responsible for the FEH, are: HPV 13 and HPV 32. Different therapeutic procedures have been reported: surgical excision, laser ablation, cryotherapy, electrocauterization, interferon, retinoic acid, 5% immiquimod.

  9. 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

  10. 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.

  11. 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.

  12. 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.

  13. 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.)

  14. 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)

  15. 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

  16. A case report of giant retroperitoneal lymph node hyperplasia

    Energy Technology Data Exchange (ETDEWEB)

    Park, Hae Won [Korea General Hospital, Seoul (Korea, Republic of)

    1985-08-15

    Giant lymph node hyperplasias are an uncommon entity. They are difficult to image on plain film. The CT appearance of this condition has been described in recent radiologic literature. In this case report, combination of ultrasonogram and CT permitted differentiated of other space occupying lesions from giant retroperitoneal lymph node hyperplasia.

  17. A case report of giant retroperitoneal lymph node hyperplasia

    International Nuclear Information System (INIS)

    Giant lymph node hyperplasias are an uncommon entity. They are difficult to image on plain film. The CT appearance of this condition has been described in recent radiologic literature. In this case report, combination of ultrasonogram and CT permitted differentiated of other space occupying lesions from giant retroperitoneal lymph node hyperplasia

  18. Adrenal cortex function impairment in chronic fatigue syndrome

    Directory of Open Access Journals (Sweden)

    Žarković Miloš P.

    2003-01-01

    Full Text Available Chronic fatigue syndrome (CFS is defined as constellation of the prolonged fatigue and several somatic symptoms, in the absence of organic or severe psychiatric disease. However, this is an operational definition and conclusive biomedical explanation remains elusive. Similarities between the signs and symptoms of CFS and adrenal insufficiency prompted the research of the hypothalamo-pituitary-adrenal axis (HPA derangement in the pathogenesis of the CFS. Early studies showed mild glucocorticoid deficiency, probably of central origin that was compensated by enhanced adrenal sensitivity to ACTH. Further studies showed reduced ACTH response to vasopressin infusion. The response to CRH was either blunted or unchanged. Cortisol response to insulin induced hypoglycaemia was same as in the control subjects while ACTH response was reported to be same or enhanced. However, results of direct stimulation of the adrenal cortex using ACTH were conflicting. Cortisol and DHEA responses were found to be the same or reduced compared to control subjects. Scott et all found that maximal cortisol increment from baseline is significantly lower in CFS subjects. The same group also found small adrenal glands in some CFS subjects. These varied and inconsistent results could be explained by the heterogeneous study population due to multifactorial causes of the disease and by methodological differences. The aim of our study was to assess cortisol response to low dose (1 µg ACTH using previously validated methodology. We compared cortisol response in the CFS subjects with the response in control and in subjects with suppressed HPA axis due to prolonged corticosteroid use. Cortisol responses were analyzed in three subject groups: control (C secondary adrenal insufficiency (AI, and in CFS. The C group consisted of 39 subjects, AI group of 22, and CFS group of nine subjects. Subject data are presented in table 1. Low dose ACTH test was started at 0800 h with the iv injection

  19. Laparoscopic Partial Hepatectomy of Focal Nodular Hyperplasia

    Directory of Open Access Journals (Sweden)

    Mayu Sakata

    2012-11-01

    Full Text Available Focal nodular hyperplasia is a benign liver lesion incidentally discovered with increasing frequency because of the proliferation of imaging studies. Radiographic characterization can diagnose this pathologic lesion and nonoperative therapy is the standard of care. However, surgical resection may be required for diagnostic reasons or symptomatic patients. Depending on the anatomic location of the lesion, biopsy and/or resection can be performed laparoscopically. We herein report the case of a 26-year-old Japanese woman with a hepatic tumor who required a medical examination. Her medical history was negative for alcohol abuse, oral contraceptive administration and trauma. Clinical examination showed no significant symptoms. Ultrasonography, computed tomography and magnetic resonance imaging showed a mass located in the left lateral segment of the liver with a diameter of about 40 mm. It was difficult to diagnose the tumor definitively from these imaging studies, so we performed laparoscopic partial hepatectomy with successive firing of endoscopic staplers. The histopathological diagnosis was focal nodular hyperplasia. Surgical procedures and postoperative course were uneventful and the patient was discharged from the hospital on postoperative day 5.

  20. Minimally invasive devices for treating lower urinary tract symptoms in benign prostate hyperplasia: technology update

    OpenAIRE

    Aoun F; Marcelis Q; Roumeguère T

    2015-01-01

    Fouad Aoun1, Quentin Marcelis,1,2 Thierry Roumeguère,2 1Department of Urology, Jules Bordet Institute, 2Department of Urology, Erasme Hospital, University Clinics of Brussels, Université Libre de Bruxelles, Brussels, Belgium Abstract: Benign prostatic hyperplasia (BPH) represents a spectrum of related lower urinary tract symptoms (LUTS). The cost of currently recommended medications and the discontinuation rate due to side effects are significant drawbacks limiting thei...

  1. [S2e guideline of the German urologists : Conservative and pharmacologic treatment of benign prostatic hyperplasia].

    Science.gov (United States)

    Höfner, K; Bach, T; Berges, R; Dreikorn, K; Gratzke, C; Madersbacher, S; Michel, M-S; Muschter, R; Oelke, M; Reich, O; Tschuschke, C; Bschleipfer, T

    2016-02-01

    This report summarizes the relevant aspects of the S2e guideline of the German Urologists for the conservative and pharmacological treatment of lower urinary tract symptoms due to benign prostatic hyperplasia. Recommendations are given regarding watchful waiting, behavioral therapy, phytotherapy and pharmacological mono- and combination therapy. The influence of the different therapeutic options on bladder outlet obstruction (BOO) is described in detail. PMID:26518303

  2. 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

  3. Pseudoangiomatous stromal hyperplasia causing massive breast enlargement.

    Science.gov (United States)

    Bourke, Anita Geraldine; Tiang, Stephen; Harvey, Nathan; McClure, Robert

    2015-01-01

    Pseudoangiomatous stromal hyperplasia (PASH) of the breast is a benign mesenchymal proliferative process, initially described by Vuitch et al. We report an unusual case of a 46-year-old woman who presented with a 6-week history of bilateral massive, asymmetrical, painful enlargement of her breasts, without a history of trauma. On clinical examination, both breasts were markedly enlarged and oedematous, but there were no discrete palpable masses. Preoperative image-guided core biopsies and surgery showed PASH. PASH is increasingly recognised as an incidental finding on image-guided core biopsy performed for screen detected lesions. There are a few reported cases of PASH presenting as rapid breast enlargement. In our case, the patient presented with painful, asymmetrical, massive breast enlargement. Awareness needs to be raised of this entity as a differential diagnosis in massive, painful breast enlargement. PMID:26475873

  4. 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...

  5. 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

  6. 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

  7. 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.

  8. Maxillary sinus marrow hyperplasia in sickle cell anemia

    International Nuclear Information System (INIS)

    Marrow hyperplasia is a sequela of sickle cell anemia (SCA) and may be seen in the skull in children after 5 years of age. The facial bones, except for the mandible and orbits, are usually not involved. We report an unusual case of a 28-month-old black boy with SCA who presented with extensive marrow hyperplasia of the maxillary sinuses in addition to severe calvarial and mandibular changes. The imaging characteristics on CT (similar to other sites of marrow hyperplasia) and MR (low signal on both T1 and T2 sequences) should aid in making the correct diagnosis. (orig.)

  9. Maxillary sinus marrow hyperplasia in sickle cell anemia

    Energy Technology Data Exchange (ETDEWEB)

    Fernandez, M. [Dept. of Imaging, Children`s Hospital of Michigan, Detroit, MI (United States); Slovis, T.L. [Dept. of Imaging, Children`s Hospital of Michigan, Detroit, MI (United States); Whitten-Shurney, W. [Dept. of Pediatrics, Children`s Hospital of Michigan, Detroit, MI (United States)

    1995-11-01

    Marrow hyperplasia is a sequela of sickle cell anemia (SCA) and may be seen in the skull in children after 5 years of age. The facial bones, except for the mandible and orbits, are usually not involved. We report an unusual case of a 28-month-old black boy with SCA who presented with extensive marrow hyperplasia of the maxillary sinuses in addition to severe calvarial and mandibular changes. The imaging characteristics on CT (similar to other sites of marrow hyperplasia) and MR (low signal on both T{sub 1} and T{sub 2} sequences) should aid in making the correct diagnosis. (orig.)

  10. 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)

  11. 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...

  12. 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.

  13. 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.

  14. 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.

  15. 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

  16. 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.

  17. 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

  18. 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.

  19. A new adrenal computer imaging technique using dual-radioisotopes.

    Directory of Open Access Journals (Sweden)

    Ohashi,Teruhisa

    1981-06-01

    Full Text Available Computer processed adrenal imaging using dual-radioisotopes, 6 beta-iodomethyl-19-nor-cholest-5(10-en-3 beta-ol-131I and 99mTc-phytate was performed in 12 patients with primary aldosteronism and 4 with Cushing's syndrome due to adrenocortical tumor. Adreno-photoscanning and hepato-photoscanning were performed in the same position 2-4 days following intravenous administration of radiocholesterol. The scintigraphic information was stored on cassettes and scan subtraction and a digital-computer method for data smoothing were performed on an oscilloscope. The tumor site could be determined in all cases until day 4 by this computer processed image.

  20. Approach to assigning gender in 46,XX congenital adrenal hyperplasia with male external genitalia: replacing dogmatism with pragmatism.

    Science.gov (United States)

    Houk, Christopher P; Lee, Peter A

    2010-10-01

    The goal of sex assignment is to facilitate the best possible quality of life for the patient. Factors such as reproductive system development, sexual identity, sexual function, and fertility are important considerations in this regard. Although some DSD gender assignments are relatively straightforward, those with midstage genital ambiguity and unclear gonadal function represent a major challenge. A recent major change in DSD care has been to encourage a male assignment for 46,XY infants with ambiguous genitalia who have evidence of testicular function and in utero central nervous system androgen exposure. In contrast, assignment of virilized 46,XX DSD patients remains female when ovaries and internal organs are present, regardless of the extent of virilization of the external genitalia. In this paper, we propose consideration of male assignment for these 46,XX patients who have fully developed male genitalia based on available outcome data. PMID:20926538

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

    DEFF Research Database (Denmark)

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

    1991-01-01

    pathology. Gonadectomy was performed in the 2 surviving 46,XY individuals at the age of 7 years, and histological examination showed normal testicular morphology but very few germ cells. Postmortem examination of the testes of the 2-month-old subject showed normal testicular histology, and quantitative...... normal breast and pubic hair development after oral estrogen replacement and topical testosterone administration. The glucocorticoid and mineralocorticoid replacement was adjusted in accordance with repeated measurements of serum sodium and serum potassium, plasma renin concentration and blood pressure...

  2. New Developments in Our Understanding of Neointimal Hyperplasia.

    Science.gov (United States)

    Lee, Timmy; Ul Haq, Naveed

    2015-11-01

    The vascular access remains the lifeline for the hemodialysis patient. The most common etiology of vascular access dysfunction is venous stenosis at the vein-artery anastomosis in arteriovenous fistula and at the vein-graft anastomosis in arteriovenous grafts (AVG). This stenotic lesion is typically characterized on histology as aggressive venous neointimal hyperplasia in both arteriovenous fistula and AVG. In recent years, we have advanced our knowledge and understanding of neointimal hyperplasia in vascular access and begun testing several novel therapies. This article will (1) review recent developments in our understanding of the pathophysiology of neointimal hyperplasia development in AVG and fistula failure, (2) discuss atypical factors leading to neointimal hyperplasia development, (3) highlight key novel therapies that have been evaluated in clinical trials, and (4) discuss future opportunities and challenges to improve our understanding of vascular access dysfunction and translate this knowledge into novel and innovative therapies. PMID:26524947

  3. 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...

  4. Proteus syndrome: MRI characteristics of plantar cerebriform hyperplasia

    International Nuclear Information System (INIS)

    Proteus syndrome is a rare congenital hamartomatous syndrome with a variety of abnormalities. It shares many features with other congenital hamartomatous disorders, but cerebriform hyperplasia of the soles and the palms is known as a quite distinctive characteristic in the dermatologic literature. The purpose of this case report is to demonstrate the MRI features of plantar cerebriform hyperplasia in a 9-year-old boy with known Proteus syndrome. (orig.)

  5. Benign prostatic hyperplasia: clinical treatment can complicate cataract surgery

    OpenAIRE

    Fernando Facio; Renata Kashiwabuschi; Yutaro Nishi; Ricardo Leao; Peter Mcdonnell; Arthur Burnett

    2010-01-01

    PURPOSE: To investigate the effects of alpha-1 adrenergic receptor antagonists for the treatment of benign prostatic hyperplasia (BPH) regarding potential risks of complications in the setting of cataract surgery. AIM: To address recommendations, optimal control therapy, voiding symptoms and safety within the setting of cataract surgery. MATERIALS AND METHODS: A comprehensive literature review was performed using MEDLINE with MeSH terms and keywords "benign prostatic hyperplasia", "intraopera...

  6. 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

  7. 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.

  8. Adrenal steroidogenesis disruption caused by HDL/cholesterol suppression in diethylstilbestrol-treated adult male rat.

    Science.gov (United States)

    Haeno, Satoko; Maeda, Naoyuki; Yamaguchi, Kousuke; Sato, Michiko; Uto, Aika; Yokota, Hiroshi

    2016-04-01

    The synthetic estrogen diethylstilbestrol is used to prevent miscarriages and as a therapeutic treatment for prostate cancer, but it has been reported to have adverse effects on endocrine homeostasis. However, the toxicity mechanism is poorly understood. Recently, we reported that diethylstilbestrol impairs adrenal steroidogenesis via cholesterol insufficiency in adult male rats. In the present study, we found that the adrenal cholesterol level was significantly reduced without of the decrease in other precursors in the adrenal steroidogenesis 24 h after a single dose of diethylstilbestrol (0.33 μg/g body mass). The serum HDL/cholesterol level was also reduced only 12 h after the diethylstilbestrol exposure. The level of Apo E, which is indispensable for HDL/cholesterol maturation, was decreased in both the HDL and VLDL/LDL fractions, whereas the level of Apo A1, which is an essential constituent of HDL, was not altered in the HDL fraction. Because the liver is a major source of Apo E and Apo A1, the secretion rates of these proteins were examined using a liver perfusion experiment. The secretion rate of Apo A1 from the liver was consistent between DES-treated and control rats, but that of Apo E was comparatively suppressed in the DES-treated rats. The disruption of adrenal steroidogenesis by diethylstilbestrol was caused by a decrease in serum HDL/cholesterol, which is the main source of adrenal steroidogenesis, due to the inhibition of Apo E secretion from the liver. PMID:26349937

  9. Cervical lymph node hyperplasia on [{sup 18}F]-fluorodeoxyglucose positron emission tomography/computed tomography scan after treatment of children and adolescents with malignant lymphoma

    Energy Technology Data Exchange (ETDEWEB)

    Hu, Ying-Ying, E-mail: huyy@sysucc.org.cn; Zhang, Xu, E-mail: zhangxu2@sysucc.org.cn; Long, Wen, E-mail: longwen2@sysucc.org.cn; Lin, Xiao-Ping, E-mail: linxp@sysucc.org.cn; Zhang, Ya-Rui, E-mail: zhangyr@sysucc.org.cn; Li, Yuan-Hua, E-mail: liyh@sysucc.org.cn; Xiao, Zi-Zheng, E-mail: xiaozzh@sysucc.org.cn; Zheng, Rong-Liang, E-mail: zhengrl@sysucc.org.cn; Liang, Pei-Yan, E-mail: liangpy@sysucc.org.cn; Fan, Wei, E-mail: fanwei@sysucc.org.cn

    2015-07-15

    Highlights: • Cervical lymph node hyperplasia is a benign processes. • Lymph node hyperplasia found in treated children and adolescents with lymphoma. • We define imaging manifestations of cervical lymph node hyperplasia in PET/CT. • Awareness of lymph node hyperplasia avoid invasive procedures and over-treatment. - Abstract: Purpose: To define imaging manifestations and clinical prognosis of cervical lymph node hyperplasia using [{sup 18}F]-fluorodeoxyglucose positron emission tomography/computed tomography (FDG PET/CT) scanning after treatment of children and adolescents with malignant lymphoma. Methods: Children and adolescent patients with malignant lymphoma who had high FDG uptake in their cervical lymph nodes via PET/CT after treatment, which was not due to tumor recurrence or residue, were retrospectively analyzed. Results: Twenty-seven patients with a median age of 12 years were included; 11 had Hodgkin's disease and 16 had non-Hodgkin's lymphoma. The time from PET/CT scan to completion of therapy was 1–36 months, 85.2% (23/27) of which took place within 12 months. Three patients had confirmed lymph node follicular hyperplasia by biopsy, while all 27 patients achieved disease-free survival during the follow-up period. The maximum standardized uptake values (SUV{sub max}) of cervical lymph nodes were 2.2–16.2 and the maximum short axis ranged from 0.3 to 1.2 cm. Cervical lymph node hyperplasia was noted in neck levels I–V, and neck level II bilaterally had the highest incidence (100%). Bilateral cervical lymph node hyperplasia was symmetrical in terms of both the SUV{sub max} and affected locations. Thymic hyperplasia and nasopharyngeal lymphoid hyperplasia were both observed in 24 patients (88.9%). There was no relationship in terms of the SUV{sub max} between cervical lymph nodes and thymic tissue, cervical nodes or nasopharyngeal lymphoid tissue. Conclusion: Cervical lymph node hyperplasia with high FDG uptake on PET/CT scans found

  10. Cervical lymph node hyperplasia on [18F]-fluorodeoxyglucose positron emission tomography/computed tomography scan after treatment of children and adolescents with malignant lymphoma

    International Nuclear Information System (INIS)

    Highlights: • Cervical lymph node hyperplasia is a benign processes. • Lymph node hyperplasia found in treated children and adolescents with lymphoma. • We define imaging manifestations of cervical lymph node hyperplasia in PET/CT. • Awareness of lymph node hyperplasia avoid invasive procedures and over-treatment. - Abstract: Purpose: To define imaging manifestations and clinical prognosis of cervical lymph node hyperplasia using [18F]-fluorodeoxyglucose positron emission tomography/computed tomography (FDG PET/CT) scanning after treatment of children and adolescents with malignant lymphoma. Methods: Children and adolescent patients with malignant lymphoma who had high FDG uptake in their cervical lymph nodes via PET/CT after treatment, which was not due to tumor recurrence or residue, were retrospectively analyzed. Results: Twenty-seven patients with a median age of 12 years were included; 11 had Hodgkin's disease and 16 had non-Hodgkin's lymphoma. The time from PET/CT scan to completion of therapy was 1–36 months, 85.2% (23/27) of which took place within 12 months. Three patients had confirmed lymph node follicular hyperplasia by biopsy, while all 27 patients achieved disease-free survival during the follow-up period. The maximum standardized uptake values (SUVmax) of cervical lymph nodes were 2.2–16.2 and the maximum short axis ranged from 0.3 to 1.2 cm. Cervical lymph node hyperplasia was noted in neck levels I–V, and neck level II bilaterally had the highest incidence (100%). Bilateral cervical lymph node hyperplasia was symmetrical in terms of both the SUVmax and affected locations. Thymic hyperplasia and nasopharyngeal lymphoid hyperplasia were both observed in 24 patients (88.9%). There was no relationship in terms of the SUVmax between cervical lymph nodes and thymic tissue, cervical nodes or nasopharyngeal lymphoid tissue. Conclusion: Cervical lymph node hyperplasia with high FDG uptake on PET/CT scans found after treating children

  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. 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)

  13. 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%)

  14. Low estriol levels in the maternal marker screen as a predictor of X-linked adrenal hypoplasia congenita: Case report

    Directory of Open Access Journals (Sweden)

    Durković Jasmina

    2014-01-01

    Full Text Available Introduction. X-linked adrenal hypoplasia congenita (AHC is a rare cause of adrenocortical insufficiency. Early postnatal diagnosis may prevent severe hypoglycemia, Addisonian crises and death. Low maternal estriol (E3 levels in the second trimester of pregnancy could indicate the possibility that the fetus suffers from a disorder that causes adrenal insufficiency. Suspicion is based on the fact that E3 originates from dehydroepiandrosterone (DHEA synthesized in the fetal adrenals. In case of adrenal insufficiency, the impaired production of fetal DHEA leads to a subsequent reduction of E3 concentrations in maternal serum. There are only a few reports of AHC suspected prenatally due to low maternal E3 levels. Case Outline. We describe two brothers with adrenal insufficiency due to AHC. The older brother was admitted to the hospital at the age of 33 days due to failure to thrive, vomiting, and dehydration. Genetic analysis revealed a hemizygous mutation in DAX-1 gene, thus confirming the diagnosis of ACH. The same mutation was detected in his mother. In the second pregnancy, E3 concentrations were determined from maternal serum. Estriol levels during the second trimester were extremely low suggesting the diagnosis of AHC. The diagnosis was confirmed during the neonatal period by genetic testing, and replacement therapy was started at the age of 10 days. This boy never experienced an adverse episode such as hypoglycemia or adrenal crises. Conclusion. Since determination of E3 is a simple, sensitive, noninvasive and cheap method, its use as an obligatory prenatal screening test should be accepted as a standard practice in Serbia.

  15. Breast carcinogenesis: Transition from hyperplasia to invasive lesions

    International Nuclear Information System (INIS)

    To examine the balance loss between proliferation and apoptosis that play a role in breast cancer development, and to explore the places of various genes and molecules within this process in this supposed multistep process. We obtained the specimens from 40 patients between 2002 and 2004 at the Department of Pathology, Medical Faculty, Adnan Menderes University, Aydin, Turkey. We categorized the lesions ductal hyperplasia (DH), atypical ductal hyperplasia (ADH), in situ ductal carcinoma (DCIS), and invasive ductal carcinoma (IDC). We determined the tumor size, histological grade and lymph node status of invasive cases and we used nottingham prognostic index (NPI). We applied ER, PR, c-erbB2, p53, Ki-67, bcl-2, dUTP nick end labeling (TUNEL), breast cancer gene-1, matrix metalloproteinases-1 and tissue inhibitor matrix metalloproteinases-1 stains to each lesion using the immunohistochemical method. We observed that ER and PR decreased in ADH when compared with DH (p=0.0001 and p=0.019). However, we determined that in DCIS as c-erbB2 (p=0,005) and Ki-67 (p=0.004) increase, TUNEL (p=0.04) and bcl-2 (p=0.005) decrease, when compared with ADH. When compared with DCIS lesions, we observed the existence of a higher c-erbB2 (p=0,003) and a lower TUNEL (p=0,012) in invasive tumors. Furthermore, we found that there is a higher MMP-1 (p=0,04) in invasive lesions, when compared with non-invasive lesions. We detected higher PR (p=0,049), lower TUNEL and c-erbB2 (p=0,017) in low grade group of NPI, when compared with high grade group of NPI. As a result, it has been shown that together with increase in proliferation, decrease in apoptosis, too, contributes to the proliferation/apoptosis imbalance that occurs in breast carcinogenesis. Increase in proliferation and decrease in apoptosis are parallel with the progression of lesions. We also showed that the changes, beginning with loss of ER and PR in ADH step, can cause malign transformation, which is especially notable both in

  16. 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.

  17. A Case of Rathke's Cleft Cyst Associated with Transient Central Adrenal Insufficiency and Masked Diabetes Insipidus

    OpenAIRE

    Masahiro Asakawa; Rina Chin; Yoshihiro Niitsu; Tetsuo Sekine; Arisa Niwa; Atsuko Miyake; Naoko Inoshita; Mitsunobu Kawamura; Yoshihiro Ogawa; Yukio Hirata

    2014-01-01

    A 73-year-old woman admitted to our hospital because of headache, poor appetite, malaise, weight loss, and vomiting was found to have central adrenal insufficiency and thyrotoxicosis due to silent thyroiditis. Polyuria developed after replacement with glucocorticoid (masked diabetes insipidus), which was controlled with nasal administration of desmopressin. Magnetic resonance imaging of the brain showed a large cystic pituitary mass (18 × 18 × 12 mm) extending suprasellarly to the optic chias...

  18. Transurethral microwave thermotherapy for benign prostatic hyperplasia

    Directory of Open Access Journals (Sweden)

    Rubeinstein Jonathan N.

    2003-01-01

    Full Text Available Transurethral resection of the prostate (TURP remains the gold standard for treatment of benign prostatic hyperplasia (BPH. In general, while this procedure is safe, patients require a spinal, epidural, or general anesthesia and often several days of hospital stay; the potential morbidity and mortality limits the use of TURP in high-risk patients. Pharmacotherapy has been recommended as a first-line therapy for all patients with mild to moderate symptoms. Patients are oftentimes enthusiastic if they are offered a one-time method to treat lower urinary tract symptoms secondary to BPH, provided that the method offers reduced risk and allows an efficacy equal to that of medical therapy. One such method is transurethral microwave thermotherapy (TUMT. TUMT involves the insertion of a specially designed urinary catheter with a microwave antenna, which heats the prostate and destroys hyperplastic prostate tissue. TUMT allows the avoidance of general or regional anesthesia, and results in minimal blood loss and fluid absorption. In this review, the authors discussed the current indications and outcome of TUMT, including the history of the procedure, the mechanism of action, the indications for TUMT, the pre-operative considerations, the patient selection, the results in terms of efficacy, by comparing TUMT vs. Sham, TUMT vs. Alpha-blocker and TUMT vs. TURP. Finally, the complications are presented, as well as other uses and future directions of the procedure. The authors concluded that TUMT is a safe and effective minimally invasive alternative to treatment of symptomatic BPH.

  19. [Pharmacological treatment of benign prostatic hyperplasia].

    Science.gov (United States)

    Oelke, M; Martinelli, E

    2016-01-01

    The pharmacological treatment of benign prostatic hyperplasia (BPH) is indicated when men suffer from lower urinary tract symptoms (LUTS) but there are no absolute indications for prostate surgery or severe bladder outlet obstruction. Phytotherapy can be used in men with mild to moderate LUTS and alpha-blockers can quickly and effectively decrease the LUTS and symptomatic disease progression. Phosphodiesterase type 5 inhibitors (PDE5-I) are an alternative to alpha-blockers when men experience bothersome side effects from alpha-blockers or erectile dysfunction. If patients predominantly have bladder storage symptoms and a small prostate, muscarinic receptor antagonists are a viable treatment option. The combination of alpha-blocker plus muscarinic receptor antagonist is more efficacious in reducing LUTS than the single drugs alone. The 5 alpha-reductase inhibitors (5ARI) can significantly decrease LUTS and disease progression (e.g. acute urinary retention and need for prostate surgery) in men with larger prostates (> 30-40 ml). The combination of 5ARI plus alpha-blocker can reduce LUTS and disease progression more effectively than drug monotherapy. Combination therapy with PDE5-I (tadalafil) plus 5ARI (finasteride) reduces LUTS more substantially than 5ARI alone and, additionally, PDE5-Is reduce the sexual side effects during 5ARI treatment. PMID:26676726

  20. Tumoral pseudoangiomatous stromal hyperplasia of the breast.

    Science.gov (United States)

    Wieman, Stephanie M; Landercasper, Jeffrey; Johnson, Jeanne M; Ellis, Richard L; Wester, Susan M; Lambert, Pamela J; Ross, Lauren A

    2008-12-01

    Tumoral pseudoangiomatous stromal hyperplasia (PASH) is a rare benign proliferative disease of the breast. The majority of the literature reports of PASH have not contained detailed descriptions of the imaging characteristics of PASH. A 10-year retrospective study of patients with tumoral PASH and a 20-year Ovid MEDLINE search were performed to determine whether specific imaging and needle biopsy results could characterize PASH preoperatively. We identified 22 patients with tumoral PASH. Seventeen (77%) of 22 women had a palpable lump and 14 (72%) of 21 had a density on mammography. Ultrasound (US) findings included mixed or hypoechoic echogenicity in 83 per cent and ill-defined borders in 62 per cent. Eight (36%) patients had lesions with a Breast Imaging Reporting and Data System (BI-RADS) classification of 4 or 5. The sensitivity of preoperative core needle biopsy (CNB) to identify PASH was 83 per cent. A review of the literature revealed that 90 per cent of patients with PASH had some malignant imaging characteristics and 95 per cent had a mass on mammography. The imaging characteristics of PASH exhibited marked variability. Excision of PASH after CNB may be considered for patients with symptoms, enlarging lesions, or lesions classified as BI-RADS 4 or 5. PASH diagnosed by CNB allows selected patients to avoid excision. PMID:19097540

  1. Persistent adrenal enhancement may be the earliest CT sign of significant hypovolaemic shock

    Energy Technology Data Exchange (ETDEWEB)

    Cheung, S.C.W.; Lee, R.; Tung, H.K.S.; Chan, F.L

    2003-04-01

    AIM: To report two cases of intense and persistent adrenal enhancement on computed tomography (CT) examinations of the abdomen. MATERIALS AND METHODS: Two patients presented with septic shock, one due to pyogenic liver abscess and the other strangulated obturator hernia with gangrenous bowel. Both patients were resuscitated with fluid before undergoing unenhanced and enhanced CT. RESULTS: In both patients intravascular volume was not reduced as evident by normal calibre of the aorta and inferior vena cava. One patient had abnormal enhancement pattern in the liver and kidneys, suggesting hypoperfusion. The other patient had normal enhancement pattern of the other abdominal viscera. Both patient subsequently died with multi-organ failure. CONCLUSION: We propose that adrenal enhancement may be a sign of hyperperfusion in early stage of shock due to the crucial role of the adrenal glands in this clinical situation. This may not persist with further circulatory compromise due to vasoconstriction. If confirmed, its recognition has potential value of identifying a therapeutic window before irreversible shock set in.

  2. [Uptake of 123I-MIBG in a hepatic hemangioma in the scintigraphic study of an adrenal gland lesion].

    Science.gov (United States)

    Sampol Bas, C; Peña Viloria, C

    2005-01-01

    A 60 year old symptom free female in whom a lesion in left adrenal gland was found by chance in a CT scan is presented. She also had increased serum and urine catecholamines levels. 123I-MIBG scintigraphy showed a non-physiological uptake in right adrenal gland that is still seen in the delayed image, with normal left gland. MRI confirmed the presence of a mass in the left adrenal gland suggestive of an adenoma and found a lesion in the right hepatic area at the level of the previously seen MIBG image. This lesion was labelled as a hemangioma and would explain the findings of the isotopic study with MIBG. It must be considered as a false positive for phaechromocytoma. The increased catecholamine serum and urine levels were due to drug interactions. PMID:15847786

  3. 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.

  4. 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 ...

  5. 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....

  6. 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.

  7. 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.

  8. 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...

  9. 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

  10. 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.)

  11. 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

  12. 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

  13. [Interstitial laser coagulation of benign prostatic hyperplasia].

    Science.gov (United States)

    Muschter, R; Hessel, S; Hofstetter, A; Keiditsch, E; Rothenberger, K H; Schneede, P; Frank, F

    1993-07-01

    We report on the new method of interstitial laser coagulation for the treatment of benign prostatic hyperplasia (BPH). The procedure is based on the interstitial application of Nd:YAG laser irradiation, delivered through a new light guide system. Such light applicators coagulate constant tissue volumes in a homogeneous manner, as proven by in vitro studies in different tissues, including surgically removed prostate adenoma. The extent of the coagulation is determined by laser power and irradiation time. At 5 W, for example, and during a 10-min period, this zone reached a diameter of up to 20 mm. Temperatures generated in the process were over 100 degrees C, as measured by time/space resolution. These results were confirmed by in vivo studies in canine prostates. In the course of 7 weeks, the coagulated areas formed scars with degeneration and fibrosis, accompanied by marked shrinking. Neighbouring organs were not affected. The method was successfully transferred to clinical practice. The application of the light guides to the lateral lobes was performed percutaneously from the perineum under transrectal ultrasound guidance. The median lobe was punctured transurethrally under direct vision. Twenty-seven patients with an average age of 67.7 years were treated between July 1991 and March 1992. At the time of evaluation 15 patients had a follow-up of more than 2 months. They experienced a mean increase of peak flow rate from 6.6 to 15.2 ml/s and a mean decrease of residual volume from 206 to 38 ml. This was accompanied by a marked lessening of symptoms. The average prostate weight decreased from 63 to 44 g. Sexually active patients did not experience retrograde ejaculation.(ABSTRACT TRUNCATED AT 250 WORDS) PMID:7690498

  14. The role of computed tomography in the localization of adrenal cortex tumors

    International Nuclear Information System (INIS)

    The aim of this study was to evaluate the usefulness of computed tomography in the localisation of adrenal tumors producing aldosterone and cortisol. One case each of Conn's and Cushing's syndrome are described. The diagnosis of Conn's syndrome was established by demonstrating an elevated plasma aldosterone level 'at rest' and its decrease after stimulation, the absence of plasma renin activity and a lowered plasma potassium level. The diagnosis of Cushing's syndrome due to adrenal adenoma was established by demonstrating the typical clinical features, an abnormal diurnal rhythm of cortisol and ACTH secretion and an increased urine excretion of 17-OHCS without suppression by large doses of dexamethasone. The localisation and the size of the tumors as determined by computed tomography were confirmed during surgery. (orig.)

  15. 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.

  16. 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

  17. CT findings of lymphofollicular thymic hyperplasia in adult myasthenia gravis

    International Nuclear Information System (INIS)

    Objective: To evaluate the CT findings of lymphofollicular thymic hyperplasia in adult myasthenia gravis (MG). Methods: The CT findings of thymus area of 134 adult patients with lymphofollicular thymic hyperplasia in MG were reviewed, all of them with surgically and histologically proven diagnosis, and compared with the CT findings of 165 normal subjects. Results: In the group of patient, CT showed enlargement of thymus in 31 patients, 5 patients had nodule or mass (3 cm) and 9 patients (6.7%) had normal size thymus with soft-tissue density, it can considered with thymic hyperplasia. The spotty or streak shadow showed in other patients, though it could not be certain diagnosed as thymic hyperplasia, but could not be except it. The thymus area tissue complete replacement by fatty density were not found in patient group. The CT findings of patients had marked difference when compared with group of normal subjects (P<0.01), except the spotty or streak shadows. Conclusion: CT scan is an important method in diagnosing thymic lymphofollicular hyperplasia of MG in adult. (authors)

  18. 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

  19. 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.

  20. 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.

  1. 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

  2. Mass Forming Pseudoangiomatous Stromal Hyperplasia of the Breast: Sonographic Features

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Jin Hee; Hwang, Mi Soo; Lee, Jae Kye; Bae, Young Kyung [Yeungnam University College of Medicine, Daegu (Korea, Republic of)

    2006-09-15

    The object of this study was to describe the sonographic findings of mass-forming pseudoangiomatous stromal hyperplasia. A retrospective review of ten patients with breast sonography and five patients with mammography who had pseudoangiomatous stromal hyperplasia presenting as a breast mass. All cases were confirmed by surgical biopsy. The mean age of the 10 patients was 41 years old (21-51) and the mean mass size was 4.7 cm (2.5-10). On sonography, all lesions were oval shaped and well circumscribed, hypoechoic masses. Nine of the ten lesions presented with homogeneous internal echogenicity and one lesion with a complex heterogeneous pattern with a small internal cyst. A mammogram was performed in five patients and all lesions were oval, well circumscribed, high density masses. Sonographic findings of mass-forming pseudoangiomatous stromal hyperplasia of the breast were similar with those of other benign breast masses, so biopsy should be performed for diagnosis

  3. [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

  4. 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.

  5. 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.

  6. 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.

  7. Expectant management of focal nodular hyperplasia during pregnancy. A case report.

    Science.gov (United States)

    Kivnick, S; Greenspoon, J S; Kanter, M H; Gee, C; Fullman, H J

    1992-04-01

    A patient with unresectable focal nodular hyperplasia of the liver completed an uncomplicated pregnancy. Although there is a risk of hepatic rupture during pregnancy, expectant management may be an option for some cases of focal nodular hyperplasia. PMID:1593563

  8. Steroid hormone receptors in prostatic hyperplasia and prostatic carcinoma.

    Science.gov (United States)

    Khalid, B A; Nurshireen, A; Rashidah, M; Zainal, B Y; Roslan, B A; Mahamooth, Z

    1990-06-01

    One hundred and six prostatic tissue samples obtained from transurethral resection were analysed for androgen and estrogen receptors. In 62 of these, progesterone and glucocorticoid receptors were also assayed. Steroid receptors were assayed using single saturation dose 3H-labelled ligand assays. Ninety percent of the 97 prostatic hyperplasia tissues and six of the nine prostatic carcinoma tissues were positive for androgen receptors. Estrogen receptors were only present in 19% and 33% respectively. Progesterone receptors were present in 70% of the tissues, but glucocorticoid receptors were present in only 16% of prostatic hyperplasia and none in prostatic carcinoma. PMID:1725553

  9. Thymic Hyperplasia after Lung Transplantation Imitating Posttransplant Lymphoproliferative Disorder

    Directory of Open Access Journals (Sweden)

    Christina Maria Steger

    2011-01-01

    Full Text Available Thymic hyperplasia is usually associated with the treatment of malignant tumours and is sometimes linked with endocrine diseases. For the first time, we report a case of thymic hyperplasia in a patient 2 years after bilateral lung transplantation. Contrast-enhanced chest CT scan was highly suspicious for a posttransplant lymphoma or thymoma. Therefore, the patient received total thymectomy. Excised specimens were sent to the Department of Pathology. Unexpectedly, the histological examination revealed hyperplastic thymic tissue without evidence for a posttransplant lymphoproliferative disorder or malignancy.

  10. Various treatment options for benign prostatic hyperplasia: A current update.

    Science.gov (United States)

    Shrivastava, Alankar; Gupta, Vipin B

    2012-01-01

    In benign prostatic hyperplasia (BPH) there will be a sudden impact on overall quality of life of patient. This disease occurs normally at the age of 40 or above and also is associated with sexual dysfunction. Thus, there is a need of update on current medications of this disease. The presented review provides information on medications available for BPH. Phytotherapies with some improvements in BPH are also included. Relevant articles were identified through a search of the English-language literature indexed on MEDLINE, PUBMED, Sciencedirect and the proceedings of scientific meetings. The search terms were BPH, medications for BPH, drugs for BPH, combination therapies for BPH, Phytotherapies for BPH, Ayurveda and BPH, BPH treatments in Ayurveda. Medications including watchful waitings, Alpha one adrenoreceptor blockers, 5-alpha reductase inhibitors, combination therapies including tamsulosin-dutasteride, doxazosin-finasteride, terazosin-finasteride, tolterodine-tamsulosin and rofecoxib-finasteride were found. Herbal remedies such as Cernilton, Saxifraga stolonifera, Zi-Shen Pill (ZSP), Orbignya speciosa, Phellodendron amurense, Ganoderma lucidum, Serenoa Repens, pumpkin extract and Lepidium meyenii (Red Maca) have some improvements on BPH are included. Other than these discussions on Ayurvedic medications, TURP and minimally invasive therapies (MITs) are also included. Recent advancements in terms of newly synthesized molecules are also discussed. Specific alpha one adrenoreceptor blockers such as tamsulosin and alfuzosin will remain preferred choice of urologists for symptom relief. Medications with combination therapies are still needs more investigation to establish as preference in initial stage for fast symptom relief reduced prostate growth and obviously reduce need for BPH-related surgery. Due to lack of proper evidence Phytotherapies are not gaining much advantage. MITs and TURP are expensive and are rarely supported by healthcare systems. PMID:22923974

  11. Outcome of Transurethral Plasmakinetic Vaporization for Benign Prostatic Hyperplasia

    Directory of Open Access Journals (Sweden)

    Magdy El-Tabey

    2015-04-01

    Full Text Available Purpose To assess the outcome of transurethral plasmakinetic vaporization (PKVP in the management of benign prostatic hyperplasia (BPH. Patients and methods From August 2010 to May 2012, 60 patients with obstructive LUTS due to BPH were included in the study. All patients were evaluated by International Prostate Symptom Score (IPSS, general examination, digital rectal examination, PSA, routine laboratory examinations, pelvi-abdominal ultrasound, trans-rectal ultrasound, and uroflowmetry. Patients with Qmax of 8 and a prostate volume of >40 mL underwent transurethral PKVP. Results Mean age of the patients was 66.8±4.5 years. The mean times of the operation, post-operative bladder irrigation, and post-operative catheterization were 63.8±13.9 minutes, 15.2±5.7 hours, and 23.9±5.2 hours, respectively. At 3 months of follow-up, there were significant reductions in the mean IPSS from 23.4±3.5 to 9.2±3.7 (P=0.4, mean PSA from 3.03±2.2 ng/mL to 1.2±1.04 ng/mL (P value=0.02, mean post voiding residual urine from 149.8±59.5 mL to 46.9±24.1 mL (P value <0.01, and mean prostate volume from 72.8±10.3 mL to 22.7±6.1 mL (P value <0.01. Also, there was a statistically significant increase in the mean Q max. from 8.7±2.4 mL/s to 19.5±3.5 mL/s (P value <0.01. Conclusion PKVP is an effective and safe treatment option in the management of symptomatic BPH.

  12. Evolving Techniques for Surgical Treatment of Benign Prostatic Hyperplasia

    Directory of Open Access Journals (Sweden)

    Andrea Tubaro

    2015-05-01

    Full Text Available The management of lower urinary tract symptoms due to benign prostatic hyperplasia (BPH is one of the most topical areas in urology. Although most patients are adequately managed conservatively, many still require surgery to reduce bladder outlet obstruction or relieve symptoms by removing the inflamed adenomatous tissue. Transurethral resection of the prostate (TURP remains the gold standard treatment in all national and international guidelines, with open prostatectomy and laser enucleation reserved for patients with a prostate >80 ml. The current trend in the surgical management of BPH is threefold: replacing open prostatectomy with transurethral enucleation of the adenoma, managing high-risk patients by photoselective vaporisation of the prostate thus minimising blood loss, and moving BPH surgery to ambulatory day surgery and one-day surgery units in selected patients. Laser enucleation has been pioneered using the Holmium laser, although the GreenLightTM laser has been recently proposed as an alternative approach. The absence of any bleeding in photovaporisation of the prostate allows surgery to be performed in a growing population of patients on anti-aggregant and anticoagulant medications. Randomised trials of the GreenLight XPSTM laser with the MoXy™ fibre versus TURP proved the effectiveness of photovaporisation in the surgical management of BPH and suggested that 50% of patients could be discharged within 24 hours. The demand for BPH surgery remains high and urologists have rapidly adapted to the increasing demand for minimally invasive surgery. Prostate surgery evolved from a heroic procedure that remained in the memories of the entire patient family for life into a day-case procedure, and the future hopefully holds ejaculation-sparing surgery.

  13. An ectopic renin-secreting adrenal corticoadenoma in a child with malignant hypertension.

    Science.gov (United States)

    Kaslow, Abraham M; Riquier-Brison, Anne; Peti-Peterdi, Janos; Shillingford, Nick; HaDuong, Josephine; Venkatramani, Rajkumar; Gayer, Christopher P

    2016-03-01

    A previously healthy 7-year-old male presented with hypertensive emergency, hypokalemia, and elevated plasma renin activity and aldosterone levels. There was no evidence of virilization or cushingoid features. MRI of the abdomen revealed a large (5 × 5 × 3 cm) peripherally enhancing, heterogeneous mass arising from the left adrenal gland. The patient was treated for a suspected pheochromocytoma. However, his blood pressure was not responsive to alpha-blockade. Blood pressure was controlled with a calcium channel blocker and an angiotensin-converting enzyme (ACE) inhibitor. A complete surgical resection of the mass was performed. Postoperatively, his blood pressure normalized and he did not require antihypertensives. On pathological examination, the tumor tissue stained negative for chromogranin and positive for renin. The final diagnosis was renin-secreting adrenal corticoadenoma, an extremely rare adrenal tumor not previously reported in a pediatric patient. Malignant hypertension due to a renin-secreting tumor may need to be distinguished from a pheochromocytoma if alpha-adrenergic blockade is ineffective. PMID:26997629

  14. Evidence for extracellular, but not intracellular, generation of angiotensin II in the rat adrenal zona glomerulosa

    International Nuclear Information System (INIS)

    Based on the observation that high levels of renin and angiotensin II (Ang II) are found in the adrenal zona glomerulosa (ZG), it has been postulated that Ang II is formed intracellularly by the renin-converting enzyme cascade in this tissue. To test this hypothesis, the authors examined renin-angiotensin system components in subcellular fractions of the rat adrenal ZG. Renin activity and immunoreactive-Ang II (IR-Ang II) were observed in vesicular fractions but were not colocalized. In addition, angiotensinogen, angiotensin I, and converting enzyme were not observed in the renin or IR-Ang II-containing vesicular fractions. These data do not support the hypothesis that Ang II is formed intracellularly within the renin-containing vesicles of the ZG. Rather, since modulatable renin release from adrenal ZG slices was observed and renin activity was found in dense vesicular fractions (33-39% sucrose), it is likely that Ang II formation in the ZG is extracellular and initiated by the release of vesicular renin. In ZG lysomal fractions 125I-labeled Ang II was degraded to 125I-labeled des-[Phe8]Ang II. Since Ang II antibodies do not recognize des-[Phe8]Ang II, these finding explain why IR-Ang II in the ZG is due predominantly to Ang II and not to its C-terminal immunoreactive fragments

  15. Effect of angiotensin II, ATP, and ionophore A23187 on potassium efflux in adrenal glomerulosa cells

    International Nuclear Information System (INIS)

    Angiotensin II stimulus on perifused bovine adrenal glomerulosa cells elicited an increase in 86Rb efflux from cells previously equilibrated with the radioisotope. When 45Ca fluxes were measured under similar conditions, it was observed that Ca and Rb effluxes occurred within the first 30 s of the addition of the hormone and were independent of the presence of external Ca. The 86Rb efflux due to angiotensin II was inhibited by quinine and apamin. The hypothesis that the angiotensin II response is a consequence of an increase in the K permeability of the glomerulosa cell membrane triggered by an increase in cytosolic Ca is supported by the finding that the divalent cation ionophore A23187 also initiated 86Rb or K loss (as measured by an external K electrode). This increased K conductance was also seen with 10(-4) M ATP. Quinine and apamin greatly reduced the effect of ATP or A23187 on 86Rb or K release in adrenal glomerulosa cells. The results suggest that Ca-dependent K channels or carriers are present in the membranes of bovine adrenal glomerulosa cells and are sensitive to hormonal stimulus

  16. 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)

  17. 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 ...

  18. 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

  19. 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

  20. 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