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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.
AuthorsS L Duncan, K B Page, D A Rodgers
JournalClinical endocrinology (Clin Endocrinol (Oxf)) Vol. 46 Issue 3 Pg. 369-72 (Mar 1997) ISSN: 0300-0664 [Print] England
PMID9156049 (Publication Type: Case Reports, Journal Article)
Chemical References
  • Androgens
  • 17-Hydroxysteroid Dehydrogenases
Topics
  • 17-Hydroxysteroid Dehydrogenases (deficiency)
  • Adult
  • Androgens (blood)
  • Female
  • Humans
  • Laparoscopy
  • Laparotomy
  • Magnetic Resonance Imaging
  • Male
  • Orchiectomy
  • Testis (diagnostic imaging)
  • Ultrasonography
  • Virilism (blood, diagnosis, surgery)

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