Genetic factors in common disorders of female infertility

Joe Leigh Simpson
In: Reproductive Medicine Review · 2000 · vol. 8(3) , pp. 173–202 · doi:10.1017/s0962279900000314 · W2152516781
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⚙ AI-generated summary by claude@2026-06, 2026-06-09 ⓘ

This review examines the genetic factors contributing to common female infertility disorders, including premature ovarian failure, leiomyomata, polycystic ovarian disease, and endometriosis.

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⚙ AI-generated deep summary by claude@2026-06, 2026-06-10 · read from full text ⓘ

The paper reviews the genetic factors underlying selected common causes of female infertility, focusing on premature ovarian failure, leiomyomata, polycystic ovarian disease, and endometriosis, while explicitly excluding other categories such as primary gonadal differentiation disorders and internal duct disorders. It describes a spectrum in which some conditions have clearly evident genetic etiologies, whereas others show heritable tendencies with still-unclear specific genetic causes. A key limitation stated by the authors is that this contribution largely mirrors other related publications by the same author and colleagues and is framed as a communication rather than a single new study. Relevance to endometriosis: endometriosis is included as one of the specific disorders covered within the paper’s genetic review of female infertility causes, though its emphasis is on presenting genetics across multiple infertility etiologies rather than on adenomyosis.

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Abstract

Female infertility results from a myriad of causes – genetic and nongenetic. Sometimes a genetic aetiology is clearly evident. In other disorders heritable tendencies exist, but the precise genetic aetiology remains obscure. In this communication we shall consider the genetics of selected common causes of female infertility: premature ovarian failure; leiomyomata; polycystic ovarian disease; endometriosis. Not discussed here are disorders of gonadal differentiation primarily causing gonadal failure and disorders of female internal ducts, both considered elsewhere by the author and colleagues. The current contribution inevitably mirrors these other publications.
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Published online by Cambridge University Press: 13 February 2001 Female infertility results from a myriad of causes – genetic and nongenetic. Sometimes a genetic aetiology is clearly evident. In other disorders heritable tendencies exist, but the precise genetic aetiology remains obscure. In this communication we shall consider the genetics of selected common causes of female infertility: premature ovarian failure; leiomyomata; polycystic ovarian disease; endometriosis. Not discussed here are disorders of gonadal differentiation primarily causing gonadal failure and disorders of female internal ducts, both considered elsewhere by the author and colleagues. The current contribution inevitably mirrors these other publications. - Type - Research Article - Information - Copyright - © 2000 Cambridge University Press - 7 - Cited by Cited by Crossref Citations SIMPSON, JOE LEIGH and BISCHOFF, FARIDEH Z. 2002. Heritability and Molecular Genetic Studies of Endometriosis. Annals of the New York Academy of Sciences, Vol. 955, Issue. 1, p. 239. Simpson, Joe Leigh Bischoff, Farideh Z Kamat, Aparna Buster, John E and Carson, Sandra A 2003. Genetics of endometriosis. Obstetrics and Gynecology Clinics of North America, Vol. 30, Issue. 1, p. 21. Amato, Paula and Simpson, Joe Leigh 2004. The genetics of polycystic ovary syndrome. Best Practice & Research Clinical Obstetrics & Gynaecology, Vol. 18, Issue. 5, p. 707. Amato, P. and Simpson, J.-L. 2006. Génétique du syndrome des ovaires polykystiques. EMC - Gynécologie, Vol. 21, Issue. 1, p. 1. Amato, P. and Simpson, J.-L. 2006. Genética del síndrome de ovarios poliquísticos. EMC - Ginecología-Obstetricia, Vol. 42, Issue. 2, p. 1. Zorrilla, Michelle and Yatsenko, Alexander N. 2013. The Genetics of Infertility: Current Status of the Field. Current Genetic Medicine Reports, Vol. 1, Issue. 4, p. 247. Rogenhofer, Nina Engels, Laura Bogdanova, Nadja Tüttelmann, Frank Thaler, Christian J. and Markoff, Arseni 2013. Independent association of the M2/ANXA5 haplotype with recurrent pregnancy loss (RPL) in PCOS patients. Metabolism, Vol. 62, Issue. 8, p. 1057.

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endometriosisinfertility

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