The Molecular and Clinical Spectrum of 3β-hydroxysteroid Dehydrogenase Deficiency Disorder

• Published in: Trends in endocrinology and metabolism Vol. 9; no. 2; pp. 82 - 86
• Main Author: Pang, Songya
• Format: Journal Article Conference Proceeding
• Language: English
• Published: London Elsevier Ltd 01.02.1998; Elsevier
• Subjects: 3 beta-HSD enzyme; 3 beta-HSD gene; Adrenals. Adrenal axis. Renin-angiotensin system (diseases); ambiguous genitalia; Biological and medical sciences; CAH; congenital adrenal hyperplasia; Endocrinopathies; hirsutism; Malignant tumors; Medical sciences; mutation; premature pubarche; Δ5-steroids; mutation; hirsutism; 3 beta-HSD enzyme; Δ5-steroids; ambiguous genitalia; premature pubarche; CAH; 3 beta-HSD gene; congenital adrenal hyperplasia; Endocrinopathy; Adrenal cortex diseases; Enzyme; Deficiency; Gene organization; Hyperadrenocorticism; Enzymopathy; Congenital disease; Male pseudohermaphroditism; Congenital adrenal hyperplasia syndrome; Malformation; Adrenal gland diseases; Salt wasting; 3(or 17)β-Hydroxysteroid dehydrogenase; Oxidoreductases; Male genital diseases; Steroid 21-monooxygenase
• ISSN: 1043-2760; 1879-3061
• DOI: 10.1016/S1043-2760(98)00015-0

Severe 3β-hydroxysteroid dehydrogenase (3β-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 pseudohermaphroditism and mild androgen excess symptoms in children and older females. A mild spectrum of Δ5 steroid abnormality in young children with premature pubarche and older females with hirsutism and menstrual disorder was presumed to be due to a mild variant of 3β-HSD deficiency CAH. Recent studies of the type II 3β-HSD gene encoding adrenal and gonadal 3β-HSD have indicated that only the severe 3β-HSD deficiency CAH results from a deleterious mutation in the gene. This indicates that the mild Δ5 steroid abnormality is not due to a variant of 3β-HSD deficiency CAH. The hormonal criteria for bona fide mild variants of 3β-HSD deficiency and etiology of mild Δ5 steroid abnormality in the patients remain to be investigated.