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Human Reproduction Update Advance Access published online on April 2, 2008
Human Reproduction Update, doi:10.1093/humupd/dmn009
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© The Author 2008. Published by Oxford University Press on behalf of the European Society of Human Reproduction and Embryology. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org

Genetic aspects of female reproduction

The ESHRE Capri Workshop Group

To whom correspondence should be addressed at: Correspondence address. P.G. Crosignani, II Department of Obstetrics and Gynecology, University of Milano, Via Commenda 12, 20122 Milano, Italy. E-mail: piergiorgio.crosignani{at}unimi.it

BACKGROUND: Sexual reproduction provides the means for preserving genetic identity and in turn, genetic variability may affect the ability to reproduce. This review aims to summarize current research on genetic diagnosis and genetic causes of reproductive disorders.

METHODS: Searches were done by subject in Medline and other databases, and each subject summary was presented to the Workshop Group and omissions or disagreements were resolved by discussion.

RESULTS: Single-gene defects are most likely to be found among patients with hypogonadotropic hypogonadism, which may be due to defects in the KAL genes or the gonadotrophin-releasing hormone receptor genes. With premature ovarian failure there is an increased risk of having a premutation of the Fragile X syndrome gene. Complex genetic inheritance may explain the variable familial links in polycystic ovary syndrome and endometriosis, but no definitive genetic pathways are as yet known. With recurrent miscarriage, genetic defects causing thrombophilias are 2-fold more likely. Chromosome abnormalities account for ~60% of all spontaneous abortions, and the most common type, trisomy, is closely associated with advanced maternal age. Three percent of couples have a balanced chromosome abnormality, but live birth rates are better with natural conception than with preimplantation genetic diagnosis.

CONCLUSIONS: Understanding of the methods used for genetic diagnosis and research is becoming a standard requirement for the clinical practice of reproductive medicine.

Key words: hypogonadotropic hypogonadism / premature ovarian failure / polycystic ovary syndrome / Rokitansky syndrome / pregnancy loss

Received on December 4, 2007; revised February 7, 2008; accepted on March 10, 2008


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