Genetics of premature ovarian failure

Minerva Endocrinol. 2010 Dec;35(4):195-209.


Premature ovarian failure (POF) is defined as a primary ovarian insufficiency before the age of 40 years. It is characterized by a cessation of menstruation for at least 4 months associated with the elevation of serum follicle-stimulating hormone (FSH) concentration (FSH>40 IU/L). It affects approximately 1% of women under 40. Known causes of premature ovarian failure can be classified as genetic, autoimmune, environmental, iatrogenic (after chemotherapy, radiations, surgery) and idiopathic. It is estimated that up to 40% of POF can be attributed to genetic causes. Classification of genetic causes can be different. We present here review of genetic causes of POF based on classification : non-syndromic POF and syndromic causes of POF. The list of the candidate genes related to POF is still increasing. Elucidation of genetic determination of POF has a critical significance for identification the possible marker of POF or possible new kind of POF therapy.

Publication types

  • Review

MeSH terms

  • Adult
  • Amenorrhea / genetics
  • Female
  • Follicle Stimulating Hormone / blood
  • Humans
  • Primary Ovarian Insufficiency / blood
  • Primary Ovarian Insufficiency / genetics*
  • Turner Syndrome / genetics


  • Follicle Stimulating Hormone