STEROID BIOSYNTHESIS BY ADRENAL AND OVARIAN TISSUE IN CONGENITAL ADRENAL HYPERPLASIA

1967 ◽  
Vol 56 (3) ◽  
pp. 453-458 ◽  
Author(s):  
Leonard R. Axelrod ◽  
Joseph W. Goldzieher
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Adult Female ◽  
Ovarian Tissue ◽  
Hydroxysteroid Dehydrogenase ◽  
High Yield ◽  
Adrenal Hyperplasia ◽  
Steroid Biosynthesis ◽  
Adrenal Tissue ◽  
17 Hydroxyprogesterone

ABSTRACT Fresh adrenal tissue from a 5 year old boy with congenital adrenal hyperplasia and ovarian tissue from an untreated adult female pseudohermaphrodite were incubated with radioactive steroids. Adrenal tissue incubated with 4-14C-progesterone produced 17-hydroxyprogesterone, 21-deoxycortisol and testosterone in high yield. The ovarian tissue gave evidence of 17-hydroxylating, 20-reducing, 3β-ol dehydrogenase, 17β-hydroxysteroid dehydrogenase, and desmolase activities.

scholarly journals Congenital Adrenal Hyperplasia: clinical symptoms and diagnostic methods

2018 ◽  
Vol 65 (1) ◽  
pp. 25-33 ◽  
Author(s):  
Rafał Podgórski ◽  
David Aebisher Aebisher ◽  
Monika Stompor ◽  
Dominika Podgórska ◽  
Artur Mazur
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Clinical Symptoms ◽  
Hydroxysteroid Dehydrogenase ◽  
Diagnostic Methods ◽  
Screening Tests ◽  
Adrenal Hyperplasia ◽  
Hydroxylase Deficiency ◽  
Screening Programs ◽  
17 Hydroxyprogesterone ◽  
21 Hydroxylase Deficiency

The aim of this paper is a straightforward presentation of the steroidogenesis process and the most common type of congenital adrenal hyperplasia (CAH) 21-hydroxylase deficiency as well as the analytical diagnostic methods that are used to recognize this disease. CAH is a family of common autosomal recessive disorders characterized by impaired adrenal cortisol biosynthesis with associated androgen excess due to a deficiency of one or more enzymes in the steroidogenesis process within the adrenal cortex. The most common and prototypical example of this group of CAH disorders (90-95%) are caused by 21-hydroxylase deficiency. Less frequent types of CAH are 11β-hydroxylase deficiency (up to 8% of cases), 17α-hydroxylase deficiency, 3β-hydroxysteroid dehydrogenase deficiency, P450 oxidoreductase deficiency and StAR deficiencies. In the 21-hydroxylase and 11β-hydroxylase deficiency only adrenal steroidogenesis is affected, whereas a defect in 3β-hydroxysteroid dehydrogenase or 17α-hydroxylase also involves gonadal steroid biosynthesis. Many countries have introduced newborn screening programs based on immunoassays measuring 17-hydroxyprogesterone from blood spots used for other neonatal screening tests which enable faster diagnosis and treatment of CAH. Currently, chromatographic techniques coupled with mass spectrometry are gaining in popularity due to an increase in the reliability of test results.

scholarly journals Molecular Characterization of Testicular Adrenal Rest Tumors in Congenital Adrenal Hyperplasia: Lesions With Both Adrenocortical and Leydig Cell Features

2015 ◽  
Vol 100 (3) ◽  
pp. E524-E530 ◽  
Author(s):  
Evelien E. J. W. Smeets ◽  
Paul N. Span ◽  
Antonius E. van Herwaarden ◽  
Ron A. Wevers ◽  
Ad R. M. M. Hermus ◽  
...  
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Adrenal Cortex ◽  
Leydig Cell ◽  
Adrenal Hyperplasia ◽  
Cell Markers ◽  
Expression Levels ◽  
Adrenal Tissue ◽  
Testicular Adrenal Rest Tumors ◽  
Adrenal Rest ◽  
Testicular Adrenal Rest

Context: Testicular adrenal rest tumors (TART) are one of the major long term complications in patients with congenital adrenal hyperplasia. Although several adrenal-like properties have been assigned to these benign lesions, the etiology has not been confirmed yet. Objective: The aim of this study was to describe TART in more detail by analyzing several (steroidogenic) characteristics that may be classified as adrenal cortex or Leydig cell specific. Methods: Gene expression analysis by qPCR was performed for 14 genes in TART tissue (n = 12) and compared with the expression in healthy control fibroblasts (nonsteroidogenic control). In addition, a comparison was made with the expression levels in testis tissue (n = 9) and adrenal tissue (n = 13). Results: Nearly all genes were highly expressed in TART tissue, including all genes that encode the key steroidogenic enzymes. TART expression levels are in the majority almost identical to those found in adrenal tissue. The expression of adrenal cortex specific genes (CYP11B1, CYP11B2, and MC2R) in both TART and adrenal tissue is approximately 1000–10 000 times higher compared to that in testes samples. In addition, the Leydig cell markers INSL3 and HSD17B3 were not only found in testes, but also in TART, both at significantly higher levels than in the adrenal (p < 0.01). Conclusion: Our study shows for the first time that TART have multiple steroidogenic properties, which include not only the expression of adrenal cortex but also of Leydig cell markers. Therefore, the origin of these tumors might be a more totipotent embryonic cell type.

A Case of Congenital Adrenal Hyperplasia due to 3-Beta-Hydroxysteroid Dehydrogenase Deficiency Presented With Acute Liver Failure

2022 ◽  
pp. 097321792110688
Author(s):  
Sarah Alpini ◽  
Rasheda J. Vereen ◽  
Amy Quinn
Keyword(s):  
Liver Failure ◽  
Congenital Adrenal Hyperplasia ◽  
Dehydrogenase Deficiency ◽  
Clinical Presentation ◽  
Hydroxysteroid Dehydrogenase ◽  
Ambiguous Genitalia ◽  
Adrenal Hyperplasia ◽  
Adrenal Steroidogenesis ◽  
Recurrent Hypoglycemia ◽  
Deficiency Cases

Congenital adrenal hyperplasia (CAH) is a group of rare autosomal disorders characterized by a variety of defects in adrenal steroidogenesis. Most cases of CAH are due to an enzyme deficiency in either 21-hydroxylase or 11-beta-hydroxylase. A much rarer form of CAH due to 3-betahydroxysteroid dehydrogenase (3B-HSD) deficiency results in impaired synthesis of all steroid hormones. The clinical presentation of undervirilization in 46 XY patients, hyponatremia, hyperkalemia, and recurrent hypoglycemia in 3B-HSD deficiency cases is well described in the literature. We describe a neonate with 3B-HSD deficiency that presented with ambiguous genitalia and hypoglycemia and was found to have comorbid coagulopathy, cholestasis, and direct hyperbilirubinemia with liver failure that resolved with glucocorticoid and mineralocorticoid treatment. Prompt recognition of this disease is imperative for timely intervention.

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

2015 ◽  
Vol 28 (5-6) ◽  
Author(s):  
Christian Pina ◽  
Ahmed Khattab ◽  
Philip Katzman ◽  
Lauren Bruckner ◽  
Jeffrey Andolina ◽  
...  
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Ovarian Carcinoma ◽  
Left Ovary ◽  
Bilateral Adrenalectomy ◽  
Ca 125 ◽  
Adrenal Hyperplasia ◽  
Serous Adenocarcinoma ◽  
Adrenal Tissue ◽  
Ovarian Serous Adenocarcinoma ◽  
21 Hydroxylase Deficiency

AbstractA 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.

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