hydroxysteroid dehydrogenase 2—deficiency of
Definition A form (MIM:201810, 3-beta hydroxysteroid dehydrogenase 2—deficiency of) of congenital adrenal hyperplasia, which is often lethal in early life; virilisation is much less marked than other forms or doesn’t occur.
*A common autosomal recessive disease due to defective synthesis of cortisol, characterised by androgen excess leading to ambiguous genitalia in affected females, rapid somatic growth during childhood in both sexes with premature closure of the epiphyses and short adult stature.
Clinical types (of congenital adrenal hyperplasia):
• Salt wasting type—most severe type
• Simple virilizing type—less severe with normal aldosterone biosynthesis
• Non-classic form or late-onset
Molecular pathology Defects of HSD3B2, which encodes a bifunctional enzyme that plays a key role in synthesis of all classes of hormonal steroids, cause 3-beta-hydroxysteroid dehydrogenase 2—deficiency of (adrenal hyperplasia type 2).
Synonyms 3-beta-HSD deficiency, 3-beta-hydroxysteroid dehydrogenase deficiency, adrenal hyperplasia type 2, adrenal hyperplasia type II