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Cited by 406Ovarian function and disordersGenetic and Kidney Cyst DiseasesSexual Differentiation and Disorders

Prevalence of polycystic ovary syndrome (PCOS) in first-degree relatives of patients with PCOS

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Kahsar-Miller, Melissa D, Nixon, Christa, Boots, Larry R, Go, Rodney C, Azziz, Ricardo·2001·Fertility and Sterility
DOI 10.1016/s0015-0282(00)01662-9
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Abstract

Objective To determine the rate of clinically evident polycystic ovary syndrome (PCOS) among first-degree female relatives within families with a proband affected by PCOS. Design Clinical and biochemical evaluation of the mothers and sisters of 93 patients with PCOS. The diagnosis of PCOS was established by: [1] a history of oligomenorrhea, [2] clinical evidence (i.e., hirsutism) or biochemical evidence (i.e., elevated total or free T) of hyperandrogenism, and [3] the exclusion of related disorders. Setting Tertiary care university. Patient(s) Patients with PCOS and their mothers and sisters. Intervention(s) Interview, physical examination, and hormonal testing on blood samples were performed for all subjects. Main outcome measure(s) The presence of hirsutism and hyperandrogenemia was determined in the mothers and sisters of the patients with PCOS. Result(s) Of the 78 mothers and 50 sisters evaluated clinically, 19 (24%) and 16 (32%) were affected with PCOS, respectively. A higher rate of PCOS was observed when only premenopausal women not taking hormones (i.e., untreated) were considered (i.e., 35% of mothers and 40% of sisters), consistent with amelioration of symptoms with hormonal therapy or aging. These rates of PCOS are significantly higher than that observed in our general population (approximately 4%) and suggest the involvement of a major genetic component in the disorder. Conclusion(s) The rates of PCOS in mothers and sisters of patients with PCOS were 24% and 32%, respectively, although the risk was higher when considering untreated premenopausal women only.

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  • The failure to identify a qualitative or monogenic inheritance pattern and the findings from GWAS, Mendelian randomization, familial and twin studies suggest that the heritability of PCOS is likely due to the combination of multiple genes with small effect size.

    “The failure to identify a qualitative or monogenic inheritance pattern and the findings from GWAS, MR, familial and twin studies, suggests that the heritability of PCOS is likely to be due to the combination of multiple genes with small effect size, as has been found with obesity and type 2 diabetes [79,80,94,95,96].”

    From Polycystic Ovary Syndrome: An Evolutionary Adaptation to Lifestyle and the Environment (2022) · cites this paper as [80]

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Authors
Kahsar-Miller, M. D., Nixon, C., Boots, L. R., Go, R. C., & Azziz, R.
Affiliations
University of Alabama at Birmingham (US)
Corresponding author
Azziz, Ricardo
ORCID
Azziz, Ricardo
Venue
Fertility and Sterility
Publisher
Elsevier BV
Published
2001-01
Volume
75
Issue
1
Pages
53-58
ISSN
0015-0282 (ISSN-L)
DOI
10.1016/s0015-0282(00)01662-9
OpenAlex
W2048840259
Cited by
406
References
1
Citations by year
2026: 9 · 2025: 15 · 2024: 23 · 2023: 24 · 2022: 20 · 2021: 25 · 2020: 10 · 2019: 25 · 2018: 14 · 2017: 11 · 2016: 14 · 2015: 20 · 2014: 14 · 2013: 18 · 2012: 15
FWCI
11.20
Type
journal article
Language
en
Open access
Licence
Locations
  • Fertility and Sterility (publishedVersion)
  • PubMed (publishedVersion)
Funders
Eunice Kennedy Shriver National Institute of Child Health and Human Development (R00-HD29364)
Topics
  • Health Sciences › Medicine › Reproductive Medicine › Ovarian function and disorders
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Kidney Cyst Diseases
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Sexual Differentiation and Disorders
Keywords
polycystic ovary syndrome, familial prevalence, first-degree relatives, hyperandrogenism, hirsutism, genetic susceptibility, premenopausal women
MeSH terms
Adolescent, Adult, Female, Hirsutism, Humans, Middle Aged, Oligomenorrhea, Polycystic Ovary Syndrome, Prospective Studies, Testosterone, Hyperandrogenism

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