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Genetic aspects of premature ovarian failure: a literature review

  • Reproductive Medicine
  • Published:
Archives of Gynecology and Obstetrics Aims and scope Submit manuscript

Abstract

Background

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).

Methods

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

Results

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.

Conclusion

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

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  1. Division of Human Reproduction, Department of Gynecology and Obstetrics, Faculdade de Medicina do ABC, Avenida Príncipe de Gales, 821, Santo André, SP, CEP 09060-650, Brazil

    Emerson Barchi Cordts, Denise Maria Christofolini, Aline Amaro dos Santos, Bianca Bianco & Caio Parente Barbosa

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  1. Emerson Barchi Cordts
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Correspondence to Caio Parente Barbosa.

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Cordts, E.B., Christofolini, D.M., dos Santos, A.A. et al. Genetic aspects of premature ovarian failure: a literature review. Arch Gynecol Obstet 283, 635–643 (2011). https://doi.org/10.1007/s00404-010-1815-4

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