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

  title={Some New Thoughts on the Pathophysiology and Genetics of Polycystic Ovary Syndrome},
  author={Jerome F Strauss},
  journal={Annals of the New York Academy of Sciences},
  • J. Strauss
  • Published 1 November 2003
  • Biology
  • Annals of the New York Academy of Sciences
Abstract: Polycystic ovary syndrome (PCOS) is a common disorder of unknown etiology, but several lines of evidence suggest that there is an underlying genetic cause for PCOS. Studies of first‐degree relatives of women diagnosed with PCOS reveal familial clustering of the disease, particularly hyperandrogenemia. A prospective study of first‐degree female relatives of PCOS women found that 46% of ascertainable sisters of PCOS women were hyperandrogenemic. The serum bioavailable testosterone in… 

Genetics of polycystic ovarian syndrome.

Hyperandrogenic origins of polycystic ovary syndrome – implications for pathophysiology and therapy

Monkey models are most comprehensive, while mouse models provide molecular insight, including identifying the androgen receptor, particularly in neurons, as mediating androgen-induced PCOS-like programming.


A detailed account is given on the association of candidate genes associated with PCOS in South Asian population and the impact of the syndrome on an individual varies significantly based on the severity of the components, comorbidities, and life course considerations.

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It is suggested that genetic and environmental factors play a role in the development of polycystic ovary syndrome and when the authors are able to identify and then modify environmental determinants, then the health of those patients who are predisposed to disease development due to genotype or previous environmental effects will be safeguarded better.

Different routes of progesterone administration and polycystic ovary syndrome: A review of the literature

The pharmacologic characteristics of the different routes of progesterone administration with reference to these diverse indications, the therapeutic objectives and patient compliance are discussed.

Polycystic ovary syndrome and infertility: an update

Ovarian incitement conventions that intelligently utilize gonadotropins, gonadotropic hormone rivals, the approach of ovarian boring, and assisted conceptive advancements with in vitro oocyte development indicate an expanding level of therapeutic progress.

Polycystic Ovary Syndrome and its Relationship with Infertility and its Management

Polycystic ovary syndrome is characterized by hyperandrogenism, irregular ovulatory cycle and metabolic derangement, including glucose intolerance and hyperinsulinemia, and there are multiple treatments that can reduce symptoms.

Overexpression of a DENND1A isoform produces a polycystic ovary syndrome theca phenotype

It is concluded that the PCOS candidate gene, DENND1A, plays a key role in the hyperandrogenemia associated with PCOS, and these observations have both diagnostic and therapeutic implications for this common disorder.

Clinical Impact of Insulin Resistance in Women with Polycystic Ovary Syndrome

  • M. Orbetzova
  • Biology, Medicine
    Polycystic Ovarian Syndrome
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Testing for insulin resistance can be helpful to rule out other conditions that are commonly misdiagnosed as PCOS and to recommend an appropriate treatment for the different PCOS phenotypes.

FEM1A is a candidate gene for polycystic ovary syndrome

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  • Biology, Medicine
    Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology
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Immunostaining of mouse ovary demonstrated that the mouse homolog of FEM1A is expressed in androgen-producing secondary interstitial cells, with a marked increase in expression after puberty, consistent with a key feature of PCOS – ovarian hyperandrogenism.



Evidence for a genetic basis for hyperandrogenemia in polycystic ovary syndrome.

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Evidence indicating that insulin contributes to the hyperandrogenism of PCOS by stimulating ovarian androgen production and decreasing serum sex hormone-binding globulin (SHBG) concentrations is reviewed.

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    Proceedings of the National Academy of Sciences of the United States of America
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Examination of type I-V 17 beta-hydroxysteroid dehydrogenase (17 beta HSD) isoform expression in long-term cultures of theca and granulosa cells isolated from normal and PCOS ovaries indicates that increased T production in PCOS theca cells does not result from dysregulation of "androgenic" 17beta HSD activity or altered expression of AKRs that may express 17 beta H SD activity.