Progressive virilization of a pubertal phenotypic female: 17 beta-hydroxysteroid dehydrogenase deficiency

J Pediatr Adolesc Gynecol. 1996 Feb;9(1):9-11. doi: 10.1016/s1083-3188(96)70003-7.

Abstract

17 beta-Hydroxysteroid dehydrogenase deficiency is an uncommon inherited disorder characterized by genital ambiguity and progressive pubertal virilization. We describe the clinical and biochemical features in a 13-year-old 46, XY individual who presented with progressive pubertal virilization.

Publication types

  • Case Reports

MeSH terms

  • 17-Hydroxysteroid Dehydrogenases / deficiency*
  • Adolescent
  • Diagnosis, Differential
  • Disorders of Sex Development / diagnosis*
  • Disorders of Sex Development / enzymology*
  • Female
  • Humans
  • Puberty / metabolism*
  • Virilism / enzymology*

Substances

  • 17-Hydroxysteroid Dehydrogenases