Pharmacogenetics of follicle-stimulating hormone action

Curr Opin Endocrinol Diabetes Obes. 2012 Jun;19(3):220-7. doi: 10.1097/MED.0b013e3283534b11.


Purpose of review: To review the current knowledge of genetic variants in the two genes affecting the individual responsiveness to follicle-stimulating hormone (FSH) action-the FSH beta-subunit (FSHB) and the FSH receptor (FSHR), as well as the pharmacogenetic ramifications of the findings.

Recent findings: Four common variants in the FSHB and the FSHR genes were shown to exhibit significant effect on FSH action: linked FSHR variants Thr307Ala and Asn680Ser determining common receptor isoforms, and gene expression affecting polymorphisms FSHR -29G/A and FSHB -211G/T. In women, the FSHR Thr307Ala/Asn680Ser polymorphisms show consistent predictive value for estimating the most optimal recombinant FSH dosage in controlled ovarian hyperstimulation (COH). The same variants exhibit a potential for the pharmacogenetic assessment of the treatment of polycystic ovarian syndrome. The FSHR -29G/A variant was also shown to contribute to ovarian response to COH. Pilot studies have suggested the FSHB -211 TT homozygous oligozoospermic men with genetically determined low concentration of FSH, as potentially the best responders to FSH treatment; furthermore, modulation of this response by FSHR polymorphisms is possible.

Summary: Genetic variants in FSHB and FSHR exhibit a potential for pharmacogenetic applications in selecting appropriate treatment options (timing and dosage) in male and female conditions requiring or benefiting from FSH therapy.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Female
  • Follicle Stimulating Hormone / genetics*
  • Follicle Stimulating Hormone / pharmacology
  • Follicle Stimulating Hormone, beta Subunit
  • Humans
  • Male
  • Ovarian Hyperstimulation Syndrome / drug therapy
  • Ovarian Hyperstimulation Syndrome / genetics*
  • Pilot Projects
  • Polymorphism, Single Nucleotide / genetics
  • Predictive Value of Tests
  • Promoter Regions, Genetic
  • Receptors, FSH / drug effects
  • Receptors, FSH / genetics*


  • Follicle Stimulating Hormone, beta Subunit
  • Receptors, FSH
  • Follicle Stimulating Hormone