Directed pharmacological therapy of ambiguous genitalia due to an androgen receptor gene mutation

Lancet. 1999 Oct 23;354(9188):1444-5. doi: 10.1016/s0140-6736(99)03205-5.

Abstract

We report a 46,XY infant with an M807T mutation in his androgen receptor that abrogated cellular responses to testosterone, but not to dihydrotestosterone (DHT), resulting in ambiguous genitalia. Treatment with a topical DHT gel restored male genital development allowing the infant to be reared in accordance with his chromosomal sex.

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Administration, Topical
  • Androgen-Insensitivity Syndrome / diagnosis
  • Androgen-Insensitivity Syndrome / drug therapy*
  • Androgen-Insensitivity Syndrome / genetics
  • Dihydrotestosterone / therapeutic use*
  • Drug Monitoring / methods*
  • Gonadal Steroid Hormones / therapeutic use*
  • Humans
  • Infant, Newborn
  • Male
  • Receptors, Androgen / drug effects
  • Transcriptional Activation / drug effects

Substances

  • Gonadal Steroid Hormones
  • Receptors, Androgen
  • Dihydrotestosterone