title: [Clinical features and diagnosis of mild 3-beta-hydroxysteroid dehydrogenase deficiency in men].
abstract: 3 beta-hydroxysteroid dehydrogenase (HSD) deficiency was demonstrated in six males, aged between 18 and 24 years, who had gynaecomastia, hypogonadism or infertility. The predominant laboratory finding was a striking elevation of dehydroepiandrosterone sulphate (DHEAS) levels. The diagnosis of HSD deficiency was confirmed by finding a marked rise in dehydroepiandrosterone (DHEA) and 17-hydroxypregnenolone levels. In contrast to these findings in late-onset enzyme deficiency, in four males with the classical form of 21-hydroxylase deficiency the only sign was a reduction in adult height. The prevalence of late-onset HSD deficiency in men is not known and may be more relevant in patients with gynaecomastia or abnormal gonadal function than has hitherto been realized.
authors.affiliation: Abteilung für Innere Medizin I - Endokrinologie und Stoffwechsel, Medizinische Universitätsklinik, Heidelberg.
authors.forename: K
authors.initials: K
authors.lastname: Frank-Raue
authors.forename: F
authors.initials: F
authors.lastname: Raue
authors.forename: S
authors.initials: S
authors.lastname: Korth-Schütz
authors.forename: P
authors.initials: P
authors.lastname: Vecsei
authors.forename: R
authors.initials: R
authors.lastname: Ziegler
mesh_terms: D006907:17-alpha-Hydroxypregnenolone / Q000097:blood; D015096:3-Hydroxysteroid Dehydrogenases / Q000172:deficiency*; D000293:Adolescent; D000328:Adult; D001827:Body Height; D003687:Dehydroepiandrosterone / Q000031:analogs & derivatives / Q000097:blood; D019314:Dehydroepiandrosterone Sulfate; D006177:Gynecomastia / Q000097:blood / Q000175:diagnosis* / Q000201:enzymology; D006801:Humans; D007006:Hypogonadism / Q000097:blood / Q000175:diagnosis* / Q000201:enzymology; D007248:Infertility, Male / Q000097:blood / Q000175:diagnosis* / Q000201:enzymology; D008297:Male; D006899:Mixed Function Oxygenases / Q000172:deficiency
chemical_list: D006907:17-alpha-Hydroxypregnenolone; D003687:Dehydroepiandrosterone; D019314:Dehydroepiandrosterone Sulfate; D006899:Mixed Function Oxygenases; D015096:3-Hydroxysteroid Dehydrogenases
vernacular_title: Klinik und Diagnostik bei Männern mit leichtem 3 beta-Hydroxysteroiddehydrogenase-Mangel.