What question did this study set out to answer?

To review evidence on the genetic etiology of polycystic ovary syndrome (PCOS), focusing on familial transmission patterns, theca cell steroidogenic defects, and candidate gene regions.

November 1, 2003Annals of the New York Academy of Sciences

Some New Thoughts on the Pathophysiology and Genetics of Polycystic Ovary Syndrome

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Authors

JSJerome F. StraussRutgers, The State University of New Jersey

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Implication

Genetic and cellular studies reveal inherited steroidogenic abnormalities in polycystic ovary syndrome, indicating an underlying dominant genetic trait.

Key Points

To review evidence on the genetic etiology of polycystic ovary syndrome (PCOS), focusing on familial transmission patterns, theca cell steroidogenic defects, and candidate gene regions.
Evaluated androgen levels and bimodal testosterone distribution in a prospective cohort of first-degree female relatives of women with PCOS.
Cultured ovarian theca cells from PCOS and normal women through multiple population doublings under identical conditions, measuring radiolabeled steroid precursor metabolism and steroidogenic enzyme mRNA levels.
Conducted affected sib-pair linkage analysis and the transmission/disequilibrium test (TDT) to screen candidate genetic loci.
Hyperandrogenemia occurred in 46% of ascertainable sisters of women with PCOS, with serum bioavailable testosterone demonstrating a bimodal distribution consistent with a dominantly inherited trait.
Cultured PCOS theca cells stably produced elevated levels of testosterone, 17alpha-hydroxyprogesterone, and progesterone, mediated by transcriptional upregulation of CYP11A, 3BHSD2, and CYP17, while STAR gene expression was unchanged.
Linkage and association analyses identified a candidate susceptibility region on chromosome 19p13.3, hypothesized to regulate signal transduction mechanisms impacting theca cell steroidogenesis and peripheral metabolic tissues.

Cite This Study

Jerome F. Strauss (2003) studied this question.

synapsesocial.com/papers/6aa73de3e672f019491b3204 https://doi.org/10.1196/annals.1290.005

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Implication

Genetic and cellular studies reveal inherited steroidogenic abnormalities in polycystic ovary syndrome, indicating an underlying dominant genetic trait.

Some New Thoughts on the Pathophysiology and Genetics of Polycystic Ovary Syndrome

Discussion

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Implication

Key Points

Cite This Study

Some New Thoughts on the Pathophysiology and Genetics of Polycystic Ovary Syndrome

Discussion

Member takes

Implication

Key Points

Cite This Study

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