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Polycystic ovaries run in the family

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Daughters of women with polycystic ovarian syndrome (PCOS) are five times more likely to develop the condition - pointing to a strong genetic link, international researchers say. PCOS impacts more than 1 in 6 women and is linked to fertility problems, type 2 diabetes, and irregular periods, but its causes and risk factors are mostly unknown. Researchers looked at 2,275 daughters of Swedish and Chilean women with the condition and found their risk was five times greater than women whose mothers did not have PCOS. They ran further tests in mice and found a group of hormones known as androgens were driving these generational effects, for up to three generations.

Journal/conference: Nature Medicine

DOI: 10.1038/s41591-019-0666-1

Organisation/s: Karolinska Institutet, Sweden

Funder: This work was funded by the Swedish Medical Research Council, the Novo Nordisk Foundation and the Strategic Research Program in Diabetes at the Karolinska Institutet to E.S.-V.; the Adlerbertska Research Foundation to E.S.-V.; Karolinska Institutet KID funding to E.S.-V. and Q.D.; the Swedish Association of Medical Research and the Åke Wiberg Foundation to Q.D.; the Regional Agreement on Medical Training and Clinical Research between the Stockholm County Council and the Karolinska Institutet to E.S.-V.; the Royal Swedish Academy of Sciences to S.R.; and the National Fund for Scientific and Technological Development (FONDECYT). The funders had no role in study design, data collection and analysis, decision to publish or preparation of the manuscript.

Media Release

From: Springer Nature

Prenatal androgen exposure linked with polycystic ovarian syndrome risk

Daughters of women with polycystic ovarian syndrome (PCOS) are at five times greater risk of developing the condition, according to a new study published in Nature Medicine.

PCOS affects up to 17% of women of reproductive age and is associated with reduced fertility, type 2 diabetes and other detrimental health effects, such as irregular menstrual cycles (all of which can be exacerbated by obesity). Despite the high prevalence of the condition and the severity of the impact on women’s health, the causes and risk factors of PCOS are largely unknown. Previous studies have suggested that genetics alone accounts for only up to 10% of the heritability of the disorder.

Elisabet Stener-Victorin and colleagues analysed medical records of women with PCOS in Sweden and followed a cohort of Chilean women with PCOS and their daughters from a case–control study. They found that the daughters of both the Swedish and Chilean women with PCOS were five times more likely to be diagnosed with the disorder. To further understand the drivers of this effect, the authors also performed studies in mice. They found that prenatal exposure to androgen hormones, and not obesity in pregnancy, was responsible for the observed transgenerational effects and that these effects persisted and were passed on for up to three generations.

These findings unravel some of the complexity of this heterogeneous disorder and lay the foundation for further studies aimed at preventing PCOS in future generations of women.

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