Clinical, Endocrine, and Molecular Genetic Findings in Patients with 17β-Hydroxysteroid Dehydrogenase Deficiency

2000 ◽  
Vol 53 (1) ◽  
pp. 26-31 ◽  
Author(s):  
Wiebke Twesten ◽  
Paul-Martin Holterhus ◽  
Wolfgang G. Sippell ◽  
Michel Morlot ◽  
Heinz Schumacher ◽  
...  
Keyword(s):  
Dehydrogenase Deficiency ◽  
Molecular Genetic ◽  
Hydroxysteroid Dehydrogenase

Clinical, hormonal, and molecular-genetic characteristics of two cases of abnormal sex formation (ASF) in 46XY subjects caused by type 3 17-beta hydroxysteroid dehydrogenase deficiency

2011 ◽  
Vol 57 (3) ◽  
pp. 25-30
Author(s):  
A A Kolodkina ◽  
N Iu Kalinchenko ◽  
A N Nizhnik ◽  
M A Nokel' ◽  
A N Tiul'pakov
Keyword(s):  
Dehydrogenase Deficiency ◽  
Molecular Genetic ◽  
External Genitalia ◽  
Hydroxysteroid Dehydrogenase ◽  
Rare Form ◽  
Intrauterine Development ◽  
Genetic Studies ◽  
Genetic Characteristics ◽  
Sex Development ◽  
Type 3

Type 3 17-beta hydroxysteroid dehydrogenase (17HSD3) deficiency is a rare form of abnormal sex formation (ASF) in 46XY subjects in which the conversion of androstendione to testosterone is blocked; this defect results in compromised masculinization of the external genitalia during the intrauterine development. A distinctive feature of this form of sex development is masculinization at puberty due to the extragonadal conversion of androstendione to testosterone. Two clinical cases are reported: both girls were born with the female-type of external genitalia and 46XY karyotype, but progressive virilization in the pubertal period gave reason to suspect diagnosis of 17HSD3 deficiency. In both cases, this diagnosis was confirmed in molecular genetic studies (the following mutations were identified in the HSD17B3 gene: c.728-734delGATAACCp.1244fsX254/c.277+4A>T and c.277+4A>T). These two cases are the first reports of 17HSD3 deficiency in the Russian literature.

3β-Hydroxysteroid dehydrogenase deficiency in hyperandrogenism

1993 ◽  
Vol 168 (3) ◽  
pp. 889-895 ◽  
Author(s):  
Ricardo Azziz ◽  
Edwin L. Bradley, Jr. ◽  
H. Downing Potter ◽  
Larry R. Boots
Keyword(s):  
Dehydrogenase Deficiency ◽  
Hydroxysteroid Dehydrogenase

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.

46, XY Disorder of Sexual Development with Ambiguous Female External Genitalia: A Case Report

2021 ◽  
Vol 10 (1) ◽  
pp. 45-47
Author(s):  
Anil Kumar Sah ◽  
Bipin Maharjan ◽  
Mahesh Bahadur Adhikari ◽  
Suman Baral ◽  
Mimi Giri
Keyword(s):  
Case Report ◽  
Sexual Development ◽  
Dehydrogenase Deficiency ◽  
External Genitalia ◽  
Hydroxysteroid Dehydrogenase ◽  
Androgen Action ◽  
Disorder Of Sexual Development ◽  
Insufficiency Syndrome ◽  
Atypical Development ◽  
Female External Genitalia

Disorder of Sexual Development (DSD) is a group of congenital conditions with atypical development of sex at chromosomal, gonadal or anatomic level. Genetic males with DSD (46 XY DSD) can present with female external genital phenotype, ambiguous, or a micropenis. It is caused by incomplete intrauterine masculinization with or without the presence of Müllerian structures. It results either from decreased synthesis of testosterone or DHT or from impairment of androgen action. Herein, we report a case of a 13-year child raised as female with hoarseness of voice and gradual enlargement of clitoris with hormonal assessment not suggestive of either 5 Alfa Reductase deficiency, Congenital Adrenal Insufficiency Syndrome or 17β-Hydroxysteroid Dehydrogenase deficiency

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