Archives of Gynecology and Obstetrics

, Volume 283, Issue 3, pp 635–643 | Cite as

Genetic aspects of premature ovarian failure: a literature review

  • Emerson Barchi Cordts
  • Denise Maria Christofolini
  • Aline Amaro dos Santos
  • Bianca Bianco
  • Caio Parente BarbosaEmail author
Reproductive Medicine



The diagnosis of premature ovarian failure (POF) is based on the finding of amenorrhea before the age of 40 years associated with follicle-stimulating hormone levels in the menopausal range. It is a heterogeneous disorder affecting approximately 1% of women <40 years, 1:10,000 women by age 20 years and 1:1,000 women by age 30 years. POF is generally characterized by low levels of gonadal hormones (estrogens and inhibins) and high levels of gonadotropins (LH and FSH) (hypergonadotropic amenorrhea).


Review of significant articles regarding genetic causes that are associated with POF.


Heterogeneity of POF is reflected by a variety of possible causes, including autoimmunity, toxics, drugs, as well as genetic defects. Changes at a single autosomal locus and many X-linked loci have been implicated in women with POF. X chromosome abnormalities (e.g., Turner syndrome) represent the major cause of primary amenorrhea associated with ovarian dysgenesis. Many genes have been involved in POF development, among them BMP15, FMR1, FMR2, LHR, FSHR, INHA, FOXL2, FOXO3, ERα, SF1, ERβ and CYP19A1 genes.


Despite the description of several candidate genes, the cause of POF remains undetermined in the vast majority of cases.


Premature ovarian failure Infertility Genetics Chromosomal abnormalities Polymorphism 


Conflict of interest

We declare that we have no conflict of interest.


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Copyright information

© Springer-Verlag 2010

Authors and Affiliations

  • Emerson Barchi Cordts
    • 1
  • Denise Maria Christofolini
    • 1
  • Aline Amaro dos Santos
    • 1
  • Bianca Bianco
    • 1
  • Caio Parente Barbosa
    • 1
    Email author
  1. 1.Division of Human Reproduction, Department of Gynecology and ObstetricsFaculdade de Medicina do ABCSanto AndréBrazil

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