17beta-hydroxysteroid dehydrogenase 3 deficiency in a male pseudohermaphrodite.

  title={17beta-hydroxysteroid dehydrogenase 3 deficiency in a male pseudohermaphrodite.},
  author={Lindsay M Mains and Babak A. Vakili and Yves Lacassie and S. Torgny Andersson and Annika Lindqvist and John A. Rock},
  journal={Fertility and sterility},
  volume={89 1},
OBJECTIVE To present the clinical, biochemical, and genetic features of a male pseudohermaphrodite whose condition was caused by 17beta-hydroxysteroid dehydrogenase 3 (17beta-HSD3) deficiency. DESIGN Case report. SETTING Gynecology practice in a university teaching hospital. PATIENT(S) A 15-year-old black American male pseudohermaphrodite with 17beta-HSD3 deficiency. INTERVENTION(S) Laboratory evaluation, genetic mutation analysis, bilateral gonadectomy, and hormone replacement. MAIN… CONTINUE READING