Genetics of female infertility due to anomalies of the ovary and mullerian ducts

Methods Mol Biol. 2014;1154:39-73. doi: 10.1007/978-1-4939-0659-8_3.


Genetic factors are pivotal in reproductive development and subsequent reproductive processes. If disturbed, infertility can occur. In the female, genetic factors affecting the ovary and the uterus are not uncommon causes of infertility. Terminal deletions on the X long arm and X short arm and X chromosomal mosaicism have long been accepted as causes of premature ovarian failure (POF). Responsible genes on the X have not yet elucidated. Attractive candidate genes for POF also exist on autosomes, and in over a dozen genes molecular perturbations are documented in non-syndromic POF. The most common single-gene cause of POF is premutation carriers for FMR1 (fragile X syndrome). As other candidate genes and additional ethnic groups are interrogated, the proportion of POF cases due to single-gene mutation will increase. Among uterine anomalies, incomplete mullerian fusion is most common. Increased recurrence risks for first-degree relatives confirm a role for genetic factors; interrogation of candidate genes is under way.

MeSH terms

  • Comparative Genomic Hybridization / methods*
  • Female
  • Germ Cells / pathology
  • Humans
  • Infertility, Female / genetics*
  • Infertility, Female / pathology
  • Molecular Biology / methods
  • Mullerian Ducts / pathology
  • Mutation
  • Ovary / growth & development
  • Ovary / pathology
  • Primary Ovarian Insufficiency / genetics*
  • Primary Ovarian Insufficiency / pathology