[Case report: congenital adrenal hyperplasia and ambiguous genitalia due to 3 beta-hydroxysteroid dehydrogenase deficiency].
3 beta-hydroxysteroid dehydrogenase deficiency is a disorder of steroid biosynthesis resulting in decreased production of all 3 groups of adrenal steroids. The symptomatology includes congenital adrenal hyperplasia disorders and ambiguous genitalia in 46, XY males. 3beta-HSD deficiency is a rare autosomal recessive genetic disorder. Much heterogeneity exists in the clinical presentation of this disorder.
Jadot
O
O
Thiry
G
G
Bury
F
F
D015096:3-Hydroxysteroid Dehydrogenases / Q000172:deficiency*; D000312:Adrenal Hyperplasia, Congenital / Q000201:enzymology / Q000209:etiology*; D012734:Disorders of Sex Development / Q000201:enzymology / Q000209:etiology*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008659:Metabolic Diseases / Q000150:complications / Q000175:diagnosis / Q000188:drug therapy / Q000209:etiology
D015096:3-Hydroxysteroid Dehydrogenases