Molecular progress in infertility: polycystic ovary syndrome

Legro, Richard S; Strauss, Jerome F

doi:10.1016/s0015-0282(02)03275-2

Cited by 180Ovarian function and disordersGenetic and Kidney Cyst DiseasesReproductive Biology and Fertility

Molecular progress in infertility: polycystic ovary syndrome

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Legro, Richard S, Strauss, Jerome F·2002·Fertility and Sterility

DOI 10.1016/s0015-0282(02)03275-2

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Abstract

Objective To review the evidence that polycystic ovary syndrome is a genetic disease.Design Review of published literature.Results The existing literature provides a strong basis for arguing that PCOS clusters in families. However, the mode of inheritance of the disorder is still uncertain, although the majority of studies are consistent with an autosomal dominant pattern, modified perhaps by environmental factors. In addition, studies on PCOS cells (theca, muscle, and adipocytes) in culture have documented a persistent biochemical and molecular phenotype that distinguishes them from normal cells. Although several loci have been proposed as PCOS genes including CYP11A, the insulin gene, and a region near the insulin receptor, the evidence supporting linkage is not overwhelming. The strongest case can be made for the region near the insulin receptor gene, as it has been identified in two separate studies. However, the responsible gene at chromosome 19p13.3 remains to be identified. Association studies have provided a number of potential loci with genetic variants that may create or add to a PCOS phenotype, including Calpain 10, IRS-1 and -2, and SHBG.Conclusions Collectively, these findings are consistent with the concept that a gene or several genes are linked to PCOS susceptibility. Because the mutations/genotypes associated with PCOS are rare, and their full impact on the phenotype incompletely understood, routine screening of women with PCOS or stigmata of PCOS for these genetic variants is not indicated at this time. Currently the treatment implications for individually identified genetic variants is uncertain and must be addressed on a case by case basis.

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Genetic and environmental contributors combine with obesity, ovarian dysfunction and hormonal drivers to contribute to the aetiology of PCOS.
“Genetic and environmental contributors combine with obesity, ovarian dysfunction and hormonal drivers to contribute to the aetiology of PCOS. 17,18”
From Assessment and management of polycystic ovary syndrome: Summary of an evidence-based guideline (2011) · cites this paper as [17]

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Elter K, Erel CT, Cine N, Ozbek U, Hacihanefioglu B, Ertungealp E. Role of the mutations trp83arg and ile153thr of the human luteinizing hormone beta-subunit in women with polycystic ovary syndrome. Fertil Steril 1999;71:425-30.

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Polycystic ovary syndrome: a complex condition with psychological, reproductive and metabolic manifestations that impacts on health across the lifespan
Teede, H., Deeks, A., & Moran, L. (2010) · BMC Medicine · doi:10.1186/1741-7015-8-41 · Cited by 1,565 · see citing works
Heritability of polycystic ovary syndrome in a Dutch twin-family study
Vink, J. M., Sadrzadeh, S., Lambalk, C. B., & Boomsma, D. I. (2006) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2005-1494 · Cited by 647 · see citing works
Androgen excess fetal programming of female reproduction: a developmental aetiology for polycystic ovary syndrome
Abbott, D. H., Barnett, D. K., Bruns, C. M., & Dumesic, D. A. (2005) · Human Reproduction Update · doi:10.1093/humupd/dmi013 · Cited by 555 · see citing works
Quality of Life, Psychosocial Well-Being, and Sexual Satisfaction in Women with Polycystic Ovary Syndrome
Elsenbruch, S., Hahn, S., Kowalsky, D., Öffner, A. H., Schedlowski, M., Mann, K., & Janssen, O. E. (2003) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2003-030562 · Cited by 437 · see citing works
Evidence-based and potential benefits of metformin in the polycystic ovary syndrome: A comprehensive review
Palomba, S., Falbo, A., Zullo, F., & Orio, F. (2009) · Endocrine Reviews · doi:10.1210/er.2008-0030 · Cited by 426 · see citing works
Assessment and management of polycystic ovary syndrome: Summary of an evidence-based guideline
Teede, H. J., Misso, M. L., Deeks, A. A., Moran, L. J., Stuckey, B. G. A., Wong, J. L. A., Norman, R. J., Costello, M. F., & Groups, O. B. O. T. G. D. (2011) · Medical Journal of Australia · doi:10.5694/mja11.10915 · Cited by 379 · see citing works
Identifying Children at Risk for Polycystic Ovary Syndrome
Rosenfield, R. L. (2007) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2006-2012 · Cited by 288 · see citing works
Overexpression of a DENND1A isoform produces a polycystic ovary syndrome theca phenotype
McAllister, J. M., Modi, B., Miller, B. A., Biegler, J., Bruggeman, R., Legro, R. S., & Strauss, J. F. (2014) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1400574111 · Cited by 250 · see citing works
Comorbidities and complications of polycystic ovary syndrome: An overview of systematic reviews
Gilbert, E. W., Tay, C. T., Hiam, D. S., Teede, H. J., & Moran, L. J. (2018) · Clinical Endocrinology · doi:10.1111/cen.13828 · Cited by 166 · see citing works
Sex hormone binding globulin - an important biomarker for predicting pcos risk: A systematic review and meta-analysis
Deswal, R., Yadav, A., & Dang, A. S. (2018) · Systems Biology in Reproductive Medicine · doi:10.1080/19396368.2017.1410591 · Cited by 159 · see citing works
Relationship of Adolescent Polycystic Ovary Syndrome to Parental Metabolic Syndrome
Leibel, N. I., Baumann, E. E., Kocherginsky, M., & Rosenfield, R. L. (2006) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2005-1707 · Cited by 118 · see citing works
Understanding polycystic ovary syndrome from the patient perspective: a concept elicitation patient interview study
Martin, M. L., Halling, K., Eek, D., Krohe, M., & Paty, J. (2017) · Health and Quality of Life Outcomes · doi:10.1186/s12955-017-0736-3 · Cited by 40 · see citing works
Polycystic ovary syndrome in obstructive sleep apnea-hypopnea syndrome: an updated meta-analysis
He, J., Ruan, X., & Li, J. (2024) · Frontiers in Endocrinology · doi:10.3389/fendo.2024.1418933 · Cited by 16 · see citing works

FEM1A and FEM1B: novel candidate genes for polycystic ovary syndrome
Goodarzi, M. O., Maher, J., Cui, J., Guo, X., Taylor, K. D., & Azziz, R. (2008) · Human Reproduction · doi:10.1093/humrep/den324 · Cited by 23 · see citing works
Using genotype data to distinguish pleiotropy from heterogeneity: deciphering coheritability in autoimmune and neuropsychiatric diseasesPreprint
Han, B., Pouget, J. G., Slowikowski, K., Stahl, E., Lee, C. H., Diogo, D., Hu, X., Park, Y. R., Kim, E., Gregersen, P. K., et al. (2015) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/030783 · Cited by 4 · see citing works
Retracted:Candidate Genes, Small Effects, and the Prediction of Atherosclerosis
Hegele, R. A., & Rader, D. J. (1997) · Critical Reviews in Clinical Laboratory Sciences · doi:10.3109/10408369708998097 · Cited by 29 · see citing works
Retracted
Localization of one gene for tuberous sclerosis within 9q32-9q34, and further evidence for heterogeneity.
Haines, J. L., Short, M. P., Kwiatkowski, D. J., et al. (1991) · PubMed · Cited by 81 · see citing works
Assignment of a Gene for Autosomal Recessive Retinitis Pigmentosa (RP12) to Chromosome 1q31-q32.1 in an Inbred and Genetically Heterogeneous Disease Population
Soest, S. V., van den Born, L. I., Gal, A., Farrar, G. J., Bleeker-Wagemakers, L. M., Westerveld, A., Humphries, P., Sandkuijl, L. A., & Bergen, A. A. B. (1994) · Genomics · doi:10.1006/geno.1994.1422 · Cited by 117 · see citing works

Authors: Legro, R. S., & Strauss, J. F.
Affiliations: Pennsylvania State University (US)
University of Pennsylvania Health System (US)
Corresponding author: Legro, Richard S
ORCID: Legro, Richard S
Strauss, Jerome F
Venue: Fertility and Sterility
Publisher: Elsevier BV
Published: 2002-09
Volume: 78
Issue: 3
Pages: 569-576
ISSN: 0015-0282 (ISSN-L)
DOI: 10.1016/s0015-0282(02)03275-2
OpenAlex: W2048307543
Cited by: 180
References: 77
Citations by year: 2026: 1 · 2025: 4 · 2024: 3 · 2023: 4 · 2022: 3 · 2021: 4 · 2020: 6 · 2019: 9 · 2018: 11 · 2017: 8 · 2016: 4 · 2015: 4 · 2014: 8 · 2013: 10 · 2012: 8
FWCI: 2.14
Type: journal article
Language: en
Open access: bronze
doi.org
Licence: www.elsevier.com/tdm/userlicense/1.0/ (tdm)
www.elsevier.com/legal/tdmrep-license (tdm)
www.elsevier.com/open-access/userlicense/1.0/ (vor, 7208 d)
Locations: Fertility and Sterility (publishedVersion)
PubMed (publishedVersion)
Funders: National Center for Research Resources (M01 RR10732, M01RR010732)
Eunice Kennedy Shriver National Institute of Child Health and Human Development (U54-HD34449, K24 HD01476, U54HD034449, K24HD001476)
Topics: Health Sciences › Medicine › Reproductive Medicine › Ovarian function and disorders
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Kidney Cyst Diseases
Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Reproductive Biology and Fertility
Keywords: polycystic ovary syndrome, genetic susceptibility, autosomal dominant inheritance, familial aggregation, genetic linkage, insulin receptor gene, chromosome 19p13.3, CYP11A, insulin gene, CAPN10, IRS-1, insulin receptor substrate 2, sex hormone-binding globulin, theca cells, adipocytes, infertility
MeSH terms: Cells, Cultured, Cholesterol Side-Chain Cleavage Enzyme, Chromosome Mapping, Cytochrome P-450 Enzyme System, Female, Humans, Infertility, Female, Genetic Linkage, Major Histocompatibility Complex, Phenotype, Polycystic Ovary Syndrome, Receptors, Androgen, United States, Prevalence

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Molecular progress in infertility: polycystic ovary syndrome

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