Hormone and genetic study in male to female transsexual patients

J Endocrinol Invest. 2013 Sep;36(8):550-7. doi: 10.3275/8813. Epub 2013 Jan 14.


Background: Data of the literature demonstrated controversial results of a correlation between transsexualism and genetic mutations.

Aim: To evaluate the hormone and gene profile of male-female (M-F) transsexual.

Subjects and methods: Thirty M-F transsexuals aged 24-39. Seventeen had already undergone sex reassignment surgery, 13 were awaiting. All subjects had been undergoing estrogen and antiandrogen therapy. We studied hormones of the hypothalamus- pituitary-testicular axis, thyroid and adrenal profile, GH basal and after GHRH stimulation, IGF-I. The gene study analyzed SRY, AR, DAX1, SOX9, AZF region of the Y chromosome.

Results: Pre-surgery subjects had elevated PRL, reduced testosterone and gonadotropins. Post-surgery subjects showed reduced androgens, a marked increase in LH and FSH and normal PRL. Cortisol and ACTH were similar to reference values in pre- and post-surgery patients. There was a marked increase in the baseline and post-stimulation GH values in 6 of the 13 pre-surgery patients, peaking at T15. IGF-I was similar to reference values in both groups except for one post-surgery patient, whose level was below the normal range. There were no polymorphisms in the amplified gene region for SOX9, and a single nucleotide synonimous polymorphism for DAX1. No statistically significant differences were seen in the mean of CAG repeats between controls and transsexual subjects. SRY gene was present in all subjects. Qualitative analysis of the AZFa, AZFb, and AZFc regions did not reveal any microdeletions in any subject.

Conclusions: This gender disorder does not seem to be associated with any molecular mutations of some of the main genes involved in sexual differentiation.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Androgens
  • Chromosomes, Human, Y / genetics
  • Follicle Stimulating Hormone / metabolism
  • Genes, sry / genetics
  • Growth Hormone
  • Humans
  • Luteinizing Hormone
  • Male
  • SOX9 Transcription Factor / genetics
  • Sex Determination Processes / genetics
  • Sex Reassignment Surgery
  • Testosterone / metabolism
  • Thyroid Hormones / metabolism
  • Transsexualism / genetics*
  • Transsexualism / metabolism*


  • Androgens
  • SOX9 Transcription Factor
  • SOX9 protein, human
  • Thyroid Hormones
  • Testosterone
  • Luteinizing Hormone
  • Follicle Stimulating Hormone
  • Growth Hormone