Association study of gender identity disorder and sex hormone-related genes

Prog Neuropsychopharmacol Biol Psychiatry. 2009 Oct 1;33(7):1241-4. doi: 10.1016/j.pnpbp.2009.07.008. Epub 2009 Jul 13.


To investigate the biological mechanism of gender identity disorder (GID), five candidate sex hormone-related genes, encoding androgen receptor (AR), estrogen receptors alpha (ERalpha) and beta (ERbeta), aromatase (CYP19), and progesterone receptor (PGR) were analyzed by a case-control association study. Subjects were 242 transsexuals (74 male-to-female patients (MTF) and 168 female-to-male patients (FTM)), and 275 healthy age- and geographical origin-matched controls (106 males and 169 females). The distributions of CAG repeat numbers in exon 1 of AR, TA repeat numbers in the promoter region of ERalpha, CA repeat numbers in intron 5 of ERbeta, TTTA repeat numbers in intron 4 of CYP19, and six polymorphisms (rs2008112, rs508653, V660L, H770H, rs572698 and PROGINS) of PGR were analyzed. No significant difference in allelic or genotypic distribution of any gene examined was found between MTFs and control males or between FTMs and control females. The present findings do not provide any evidence that genetic variants of sex hormone-related genes confer individual susceptibility to MTF or FTM transsexualism.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aromatase / genetics
  • Chi-Square Distribution
  • Estrogen Receptor alpha / genetics
  • Estrogen Receptor beta / genetics
  • Female
  • Gender Identity*
  • Genetic Predisposition to Disease*
  • Genotype
  • Gonadal Steroid Hormones / classification
  • Gonadal Steroid Hormones / genetics*
  • Humans
  • Male
  • Middle Aged
  • Polymorphism, Genetic*
  • Psychiatric Status Rating Scales
  • Receptors, Androgen / genetics
  • Receptors, Steroid / genetics*
  • Statistics, Nonparametric
  • Transsexualism / genetics*
  • Transsexualism / psychology


  • Estrogen Receptor alpha
  • Estrogen Receptor beta
  • Gonadal Steroid Hormones
  • Receptors, Androgen
  • Receptors, Steroid
  • Aromatase