Genetic associations with diminished ovarian reserve: A systematic review of the literature

Alexis D. Greene, George Patounakis, James H. Segars

Research output: Contribution to journalReview article


Purpose: Diminished ovarian reserve (DOR) affects 10 % of women seeking fertility treatment. Although it is much more prevalent than premature ovarian failure, less is known about its etiology. The purpose of this article is to review the possible genetic causes of, and associations with, pathologic DOR. Methods: A systematic review was conducted using PubMed from 1966 through November 2013. Results: Twenty-one articles identified genes associated with DOR: one gene mutation (FMR1), three polymorphisms (GDF9, FSHR, and ESR1), and seven genes differentially expressed between women with DOR and controls (AMH, LHCGR, IGF1, IGF2, IGF1R, IGF2R and GREM1). Six candidate genes were discovered in mice, including Foxl2, Gdf9, Bmp15, Aire, Wnt4, and Gpr3. Two case reports of chromosomal translocations were also identified. Conclusions: While the etiology of pathologic DOR is likely multifactorial, it is possible that many cases attributed to an idiopathic cause may have a genetic component. Larger studies are needed to expose the impact gene mutations, polymorphisms, and epigenetics have on pathologic DOR.

Original languageEnglish (US)
Pages (from-to)935-946
Number of pages12
JournalJournal of Assisted Reproduction and Genetics
Issue number8
StatePublished - Aug 2014
Externally publishedYes


  • DOR
  • Genes
  • Genetic causes
  • POR
  • Poor ovarian reserve
  • Premature ovarian aging

ASJC Scopus subject areas

  • Reproductive Medicine
  • Genetics
  • Obstetrics and Gynecology
  • Developmental Biology
  • Genetics(clinical)

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