Evolutionary origins of polycystic ovary syndrome

An environmental mismatch disorder

Mia A. Charifson, Benjamin Trumble

Research output: Contribution to journalReview article

Abstract

Polycystic ovary syndrome (PCOS) is the most common female endocrine disorder and has important evolutionary implications for female reproduction and health. PCOS presents an interesting paradox, as it results in significant anovulation and potential sub-fecundity in industrialized populations, yet it has a surprisingly high prevalence and has a high heritability. In this review, we discuss an overview of PCOS, current diagnostic criteria, associated hormonal pathways and a review of proposed evolutionary hypotheses for the disorder. With a multifactorial etiology that includes ovarian function, metabolism, insulin signaling and multiple genetic risk alleles, PCOS is a complex disorder. We propose that PCOS is a mismatch between previously neutral genetic variants that evolved in physically active subsistence settings that have the potential to become harmful in sedentary industrialized environments. Sedentary obesogenic environments did not exist in ancestral times and exacerbate many of these pathways, resulting in the high prevalence and severity of PCOS today. Overall, the negative impacts of PCOS on reproductive success would likely have been minimal during most of human evolution and unlikely to generate strong selection. Future research and preventative measures should focus on these gene-environment interactions as a form of evolutionary mismatch, particularly in populations that are disproportionately affected by obesity and metabolic disorders. Lay Summary: The most severe form of polycystic ovary syndrome (PCOS) is likely a result of interactions between genetic predispositions for PCOS and modern obesogenic environments. PCOS would likely have been less severe ancestrally and the fitness reducing effects of PCOS seen today are likely a novel product of sedentary, urban environments.

Original languageEnglish (US)
Pages (from-to)50-63
Number of pages14
JournalEvolution, Medicine and Public Health
Volume2019
Issue number1
DOIs
StatePublished - Jan 21 2019

Fingerprint

polycystic ovary syndrome
Polycystic Ovary Syndrome
human evolution
obesity
etiology
heritability
subsistence
reproductive success
fecundity
allele
fitness
metabolism
anovulation
endocrine diseases
Anovulation
gene
Gene-Environment Interaction
genotype-environment interaction
metabolic diseases
Genetic Predisposition to Disease

Keywords

  • evolutionary medicine
  • infertility
  • mismatch
  • natural selection
  • polycystic ovary syndrome
  • reproduction

ASJC Scopus subject areas

  • Medicine (miscellaneous)
  • Ecology, Evolution, Behavior and Systematics
  • Health, Toxicology and Mutagenesis

Cite this

Evolutionary origins of polycystic ovary syndrome : An environmental mismatch disorder. / Charifson, Mia A.; Trumble, Benjamin.

In: Evolution, Medicine and Public Health, Vol. 2019, No. 1, 21.01.2019, p. 50-63.

Research output: Contribution to journalReview article

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