The Genetic Basis of the Polycystic Ovary Syndrome

2007 ◽  
pp. 223-233 ◽  
Author(s):  
Mark O. Goodarzi
Keyword(s):  
Polycystic Ovary Syndrome ◽  
Genetic Basis ◽  
Polycystic Ovary ◽  
Ovary Syndrome

scholarly journals The Molecular-Genetic Basis of Functional Hyperandrogenism and the Polycystic Ovary Syndrome

2005 ◽  
Vol 26 (2) ◽  
pp. 251-282 ◽  
Author(s):  
Héctor F. Escobar-Morreale ◽  
Manuel Luque-Ramírez ◽  
José L. San Millán
Keyword(s):  
Environmental Factors ◽  
Polycystic Ovary Syndrome ◽  
Diagnostic Criteria ◽  
Genetic Basis ◽  
Polycystic Ovary ◽  
Molecular Genetic ◽  
Ovary Syndrome ◽  
The Metabolic Syndrome ◽  
Molecular Genetic Basis ◽  
Functional Hyperandrogenism

The genetic mechanisms underlying functional hyperandrogenism and the polycystic ovary syndrome (PCOS) remain largely unknown. Given the large number of genetic variants found in association with these disorders, the emerging picture is that of a complex multigenic trait in which environmental influences play an important role in the expression of the hyperandrogenic phenotype. Among others, genomic variants in genes related to the regulation of androgen biosynthesis and function, insulin resistance, and the metabolic syndrome, and proinflammatory genotypes may be involved in the genetic predisposition to functional hyperandrogenism and PCOS. The elucidation of the molecular genetic basis of these disorders has been burdened by the heterogeneity in the diagnostic criteria used to define PCOS, the limited sample size of the studies conducted to date, and the lack of precision in the identification of ethnic and environmental factors that trigger the development of hyperandrogenic disorders. Progress in this area requires adequately sized multicenter collaborative studies after standardization of the diagnostic criteria used to classify hyperandrogenic patients, in whom modifying environmental factors such as ethnicity, diet, and lifestyle are identified with precision. In addition to classic molecular genetic techniques such as linkage analysis in the form of a whole-genome scan and large case-control studies, promising genomic and proteomic approaches will be paramount to our understanding of the pathogenesis of functional hyperandrogenism and PCOS, allowing a more precise prevention, diagnosis, and treatment of these prevalent disorders.

scholarly journals Genetic Basis of Polycystic Ovary Syndrome (PCOS): Current Perspectives

2019 ◽  
Vol Volume 12 ◽  
pp. 249-260 ◽  
Author(s):  
Muhammad Jaseem Khan ◽  
Anwar Ullah ◽  
Sulman Basit
Keyword(s):  
Polycystic Ovary Syndrome ◽  
Genetic Basis ◽  
Polycystic Ovary ◽  
Ovary Syndrome

The Genetic Basis of Polycystic Ovary Syndrome

1998 ◽  
Vol 53 (7) ◽  
pp. 421-423
Author(s):  
Stephen Franks ◽  
Neda Gharani ◽  
Dawn Waterworth ◽  
Sari Batty ◽  
Davinia White ◽  
...  
Keyword(s):  
Polycystic Ovary Syndrome ◽  
Genetic Basis ◽  
Polycystic Ovary ◽  
Ovary Syndrome

Genetic Basis of Metabolic Abnormalities in Polycystic Ovary Syndrome

2004 ◽  
Vol 4 (2) ◽  
pp. 93-107 ◽  
Author(s):  
Bel??n Rold??n ◽  
Jos?? L San Mill??n ◽  
H??ctor F Escobar-Morreale
Keyword(s):  
Polycystic Ovary Syndrome ◽  
Genetic Basis ◽  
Polycystic Ovary ◽  
Metabolic Abnormalities ◽  
Ovary Syndrome

Genetic basis of polycystic ovary syndrome

2010 ◽  
Vol 5 (4) ◽  
pp. 549-561 ◽  
Author(s):  
TM Barber ◽  
S Franks
Keyword(s):  
Polycystic Ovary Syndrome ◽  
Genetic Basis ◽  
Polycystic Ovary ◽  
Ovary Syndrome

scholarly journals The genetic basis of polycystic ovary syndrome

1997 ◽  
Vol 12 (12) ◽  
pp. 2641-2648 ◽  
Author(s):  
S. Franks ◽  
N. Gharani ◽  
D. Waterworth ◽  
S. Batty ◽  
D. White ◽  
...  
Keyword(s):  
Polycystic Ovary Syndrome ◽  
Genetic Basis ◽  
Polycystic Ovary ◽  
Ovary Syndrome

scholarly journals Evidence for a genetic basis for hyperandrogenemia in polycystic ovary syndrome

1998 ◽  
Vol 95 (25) ◽  
pp. 14956-14960 ◽  
Author(s):  
R. S. Legro ◽  
D. Driscoll ◽  
J. F. Strauss ◽  
J. Fox ◽  
A. Dunaif
Keyword(s):  
Polycystic Ovary Syndrome ◽  
Genetic Basis ◽  
Polycystic Ovary ◽  
Ovary Syndrome

scholarly journals Is There a Genetic Basis for Polycystic Ovary Syndrome?

2010 ◽  
Vol 95 (5) ◽  
pp. 2058-2060 ◽  
Author(s):  
James H. Segars ◽  
Alan H. DeCherney
Keyword(s):  
Polycystic Ovary Syndrome ◽  
Genetic Basis ◽  
Polycystic Ovary ◽  
Ovary Syndrome

scholarly journals Genetikai és epigenetikai faktorok polycystás ovarium szindróma esetén

2016 ◽  
Vol 157 (32) ◽  
pp. 1275-1281 ◽  
Author(s):  
Zita Herczeg ◽  
Melinda Vanya ◽  
Károly Szili ◽  
Csilla Dézsi ◽  
Zsolt Nagy ◽  
...  
Keyword(s):  
Polycystic Ovary Syndrome ◽  
Genetic Basis ◽  
Polycystic Ovary ◽  
Familial Aggregation ◽  
Prenatal Development ◽  
Postnatal Period ◽  
Pathophysiological Mechanism ◽  
Epigenetic Factors ◽  
Ovary Syndrome ◽  
The Common

The development of polycystic ovary syndrome and its exact pathophysiological mechanism is still unclear, but environmental and genetic factors likely play a role. Exposition to teratogenic effects during the prenatal development can lead to chronic diseases in the postnatal period. This finding confirms the common familial aggregation as well. A literature search was conducted up to January 1, 2016 for articles dealing with the genetic or epigenetic factors of polycystic ovary syndrome. This review will discuss the current understanding of the genetic basis and clinical presentation of this disease. Orv. Hetil., 2016, 157(32), 1275–1281.

scholarly journals The genetic basis of polycystic ovary syndrome

2002 ◽  
pp. 717-725 ◽  
Author(s):  
N Xita ◽  
I Georgiou ◽  
A Tsatsoulis
Keyword(s):  
Polycystic Ovary Syndrome ◽  
Genetic Basis ◽  
Tandem Repeats ◽  
Polycystic Ovary ◽  
Variable Number ◽  
Reproductive Age ◽  
Ovary Syndrome ◽  
Ins Vntr ◽  
Chain Cleavage ◽  
Hormone Biosynthesis

Polycystic ovary syndrome (PCOS) is a common endocrine disorder in women of reproductive age. The disorder is characterized by clinical features of hyperandrogenism, menstrual irregularities and often central obesity and hyperinsulinaemia. PCOS may increase the risk for infertility, type 2 diabetes mellitus, dyslipidaemia, cardiovascular disease and endometrial cancer, emphasizing the need for early diagnosis of the syndrome. The genetic basis of PCOS is unknown. There is a strong familial component but the mode of inheritance is uncertain and several candidate genes have been proposed to contribute to susceptibility. Not only genes involved in steroid hormone biosynthesis have been studied but also genes associated with the regulation of insulin secretion and action since hyperinsulinaemia is a characteristic of PCOS. So far there is evidence that INS VNTR (insulin variable number of tandem repeats) or CYP11alpha (cholesterol side chain cleavage) genes are associated with this syndrome. PCOS appears, however, to be an oligogenic disorder and more studies are necessary to define the genetic basis.

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