XY females with enzyme deficiencies of steroid metabolism. A brief review

Hum Genet. 1980;53(3):291-5. doi: 10.1007/BF00287042.

Abstract

The literature on XY females with enzyme deficiencies (17 alpha-hydroxylase, 17 beta-reductase and 17, 20-desmolase) is reviewed. The main features of these individuals are briefly compared with those of XY females with pure gonadal dysgenesis and with testicular feminization.

Publication types

  • Review

MeSH terms

  • Adolescent
  • Adrenal Hyperplasia, Congenital
  • Adult
  • Body Height
  • Female
  • Gonadal Dysgenesis / enzymology*
  • Gonadal Dysgenesis, 46,XY / enzymology*
  • Gonadal Dysgenesis, 46,XY / genetics
  • Humans
  • Lyases / deficiency
  • Middle Aged
  • Phenotype
  • Steroid Hydroxylases / deficiency*

Substances

  • Steroid Hydroxylases
  • Lyases