Phenotype and genotype in polycystic ovary syndrome

Research output: Chapter in Book/Report/Conference proceedingChapter

5 Citations (Scopus)

Abstract

Introduction: Polycystic ovary syndrome (PCOS) is the most common but least understood endocrinopathy. Although a major genetic contribution is suspected, there have been no clear genes or family of genes identified that cause or contribute to PCOS. This may be due to both the difficulty in phenotyping as well as the limited genotyping studies that have been performed to date. The diagnosis of PCOS has traditionally been based on a history of oligomenorrhea and/or hyperandrogenism, either clinical, i.e., most commonly hirsutism, or biochemical, i.e., elevated circulating total or bioavailable androgens; and/or polycystic ovaries. The criteria that emerged from the 1990 National Institute of Child and Human Development (NIH-NICHD) conference identified PCOS as unexplained hyperandrogenic chronic anovulation, making it in essence a diagnosis of exclusion (Zawadski and Dunaif 1992). The “consensus” definition did not include the polycystic ovary morphology, most commonly today found on ultrasound consisting of multiple 2–8 mm subcapsular preantral follicles and increased ovarian volume (Balen et al. 2003). These ultrasound criteria were recently incorporated in the revised 2003 Rotterdam criteria which require two out of the three above cardinal stigmata for PCOS: oligomenorrhea, hyperandrogenism, and/or polycystic ovaries (The Rotterdam ESHRE/ASRM-Sponsored PCOS Consensus Workshop Group 2004). None of these expert-generated definitions include insulin resistance, a common but not inevitable finding in PCOS. This diagnostic dilemma has hampered clinical and genetic studies of PCOS. The larger the number of distinct phenotypes within the affected category, the more complex the genetic analysis and the greater the likelihood that investigators using different diagnostic criteria will arrive at different conclusions.

Original languageEnglish (US)
Title of host publicationPolycystic Ovary Syndrome, Second Edition
PublisherCambridge University Press
Pages25-41
Number of pages17
ISBN (Electronic)9780511545191
ISBN (Print)0521848490, 9780521848497
DOIs
StatePublished - Jan 1 2007

Fingerprint

Polycystic Ovary Syndrome
Genotype
Phenotype
Oligomenorrhea
Hyperandrogenism
Ovary
Consensus Development Conferences
National Institute of Child Health and Human Development (U.S.)
Anovulation
Christianity
Hirsutism
Ovarian Follicle
Human Development
Child Development
Androgens
Genes
Insulin Resistance
Research Personnel

All Science Journal Classification (ASJC) codes

  • Medicine(all)

Cite this

Legro, R. (2007). Phenotype and genotype in polycystic ovary syndrome. In Polycystic Ovary Syndrome, Second Edition (pp. 25-41). Cambridge University Press. https://doi.org/10.1017/CBO9780511545191.003
Legro, Richard. / Phenotype and genotype in polycystic ovary syndrome. Polycystic Ovary Syndrome, Second Edition. Cambridge University Press, 2007. pp. 25-41
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Legro, R 2007, Phenotype and genotype in polycystic ovary syndrome. in Polycystic Ovary Syndrome, Second Edition. Cambridge University Press, pp. 25-41. https://doi.org/10.1017/CBO9780511545191.003

Phenotype and genotype in polycystic ovary syndrome. / Legro, Richard.

Polycystic Ovary Syndrome, Second Edition. Cambridge University Press, 2007. p. 25-41.

Research output: Chapter in Book/Report/Conference proceedingChapter

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Legro R. Phenotype and genotype in polycystic ovary syndrome. In Polycystic Ovary Syndrome, Second Edition. Cambridge University Press. 2007. p. 25-41 https://doi.org/10.1017/CBO9780511545191.003