title: 17 beta-hydroxysteroid dehydrogenase deficiency with minimal virilization and spontaneous reduction of serum androgens to normal female levels.
abstract: The testosterone biosynthesis defect, 17 beta-hydroxysteroid dehydrogenase deficiency, is generally characterized by marked virilization at puberty of children raised as females. We describe an unusual case with a persistent female body habitus presenting with primary amenorrhoea and mild facial hirsutism. Whilst awaiting gonadectomy, serum androgen concentrations were observed to fall spontaneously to within the adult female reference ranges. Location of the gonads was a problem and was finally achieved by magnetic resonance imaging.
authors.affiliation: Department of Obstetrics and Gynaecology, University of Sheffield, UK.
authors.forename: S L
authors.initials: SL
authors.lastname: Duncan
authors.forename: K B
authors.initials: KB
authors.lastname: Page
authors.forename: D A
authors.initials: DA
authors.lastname: Rodgers
mesh_terms: D015067:17-Hydroxysteroid Dehydrogenases / Q000172:deficiency*; D000328:Adult; D000728:Androgens / Q000097:blood*; D005260:Female; D006801:Humans; D010535:Laparoscopy; D007813:Laparotomy; D008279:Magnetic Resonance Imaging; D008297:Male; D009919:Orchiectomy; D013737:Testis / Q000000981:diagnostic imaging*; D014463:Ultrasonography; D014770:Virilism / Q000097:blood / Q000175:diagnosis* / Q000601:surgery
chemical_list: D000728:Androgens; D015067:17-Hydroxysteroid Dehydrogenases