[Clinical features and diagnosis of mild 3-beta-hydroxysteroid dehydrogenase deficiency in men].
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.
Frank-Raue
K
K
Abteilung für Innere Medizin I - Endokrinologie und Stoffwechsel, Medizinische Universitätsklinik, Heidelberg.
Raue
F
F
Korth-Schütz
S
S
Vecsei
P
P
Ziegler
R
R
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
D006907:17-alpha-Hydroxypregnenolone; D003687:Dehydroepiandrosterone; D019314:Dehydroepiandrosterone Sulfate; D006899:Mixed Function Oxygenases; D015096:3-Hydroxysteroid Dehydrogenases
Klinik und Diagnostik bei Männern mit leichtem 3 beta-Hydroxysteroiddehydrogenase-Mangel.