THE MOLECULAR AND CLINICAL SPECTRUM OF 3-BETA-HYDROXYSTEROID DEHYDROGENASE-DEFICIENCY DISORDER

Severe 3 beta-hydroxysteroid dehydrogenase (3 beta-HSD) deficiency in the adrenals and gonads is a well known cause of salt-wasting and non- salt-wasting forms of congenital adrenal hyperplasia (CAH), male pseud ohermaphroditism and mild androgen excess symptoms in children and old er females. A mild spectrum of Delta 5 steroid abnormality in young ch ildren with premature pubarche and older females with hirsutism and me nstrual disorder was presumed to be due to a mild variant of 3 beta-HS D deficiency CAH. Recent studies of the-type II 3 beta-HSD gene encodi ng adrenal and gonadal 3 beta-HSD have indicated that only the severe 3 beta-HSD deficiency CAH results from a deleterious mutation in the g ene. This indicates that the mild Delta 5 steroid abnormality is not d ue to a variant of 3 beta-HSD deficiency CAH. The hormonal criteria fo r bona fide mild variants of 3 beta-HSD deficiency and etiology of mil d Delta 5 steroid abnormality in the patients remain to be investigate d.