Urinary steroidal pattern of infants with congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency

1980 ◽  
Vol 13 (7) ◽  
pp. 809-811 ◽  
Author(s):  
Alfred M. Bongiovanni
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Dehydrogenase Deficiency ◽  
Hydroxysteroid Dehydrogenase ◽  
Adrenal Hyperplasia

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.

scholarly journals A Case of Late-Onset Congenital Adrenal Hyperplasia Due to Partial 3.BETA.-Hydroxysteroid Dehydrogenase Deficiency.

1993 ◽  
Vol 40 (1) ◽  
pp. 107-109 ◽  
Author(s):  
NAOKI HATTORI ◽  
TAKASHI ISHIHARA ◽  
KUNISABURO MORIDERA ◽  
MEGUMU HINO ◽  
KATSUJI IKEKUBO ◽  
...  
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Dehydrogenase Deficiency ◽  
Late Onset ◽  
Hydroxysteroid Dehydrogenase ◽  
Adrenal Hyperplasia
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