The Genetic Basis of Polycystic Ovary Syndrome

Franks, Stephen; Gharani, Neda; Waterworth, Dawn; Batty, Sari; White, Davinia; Williamson, Robert; McCarthy, Mark

doi:10.1097/00006254-199807000-00019

Cited by 48 publications

(65 citation statements)

References 0 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…There is now compelling evidence that genetic factors are important in the aetiology of PCOS. [35][36][37][38] There is familial clustering of cases 35,36 and, crucially, a greater concordance of symptoms of PCOS in identical twins compared to non-identical twins. 38 There is also evidence for heritability of endocrine and metabolic features of PCOS.…”

Section: Introductionmentioning

confidence: 99%

“…38 There is also evidence for heritability of endocrine and metabolic features of PCOS. 36,39 The mode of inheritance remains unclear; 35,37,40 an autosomal dominant disorder has been proposed, suggesting a single gene effect 41,42 but the more likely proposition is that PCOS is a complex endocrine disorder involving more than one, and probably several, genes. 35,43,44 The search for candidate genes in PCOS has so far yielded few positive results.…”

Section: Introductionmentioning

confidence: 99%

“…There are, however, obvious problems in searching for candidate genes in PCOS: the heterogeneous nature of the syndrome has given rise disagreement about definition and diagnostic criteria; in addition expression of features of PCOS occurs predominantly in women of reproductive age and there is no clear male phenotypeFboth of which make family-based studies difficult. 35,37 Many genes have been investigated as possible susceptibility loci but if PCOS is indeed a complex genetic disorder, the effect of any one gene may be small. This fact, together with the problem of ethnic heterogeneity of many populations, means that conclusive case-control (or family-based) studies require large numbers of cases and controls (at least 300 per group), homogenous populations and, very importantly, replication in other, independent populations.…”

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

Polycystic ovary syndrome in adolescents

2008

View full text Add to dashboard Cite

Background: Polycystic ovary syndrome (PCOS) is the commonest endocrine disorder in women and typically presents during adolescence. The clinical and biochemical presentation is heterogeneous, but elevated serum concentrations of androgens are the most consistent biochemical abnormality and may be considered to be the hallmark of the syndrome. Many women with PCOS also have insulin resistance and hyperinsulinaemia, which may contribute to the clinical and endocrine abnormalities. The aetiology of PCOS is not clear but studies in the Rhesus monkey suggest that exposure to excess androgen during intrauterine life results in many of the features of human PCOS, including ovarian dysfunction, abnormal LH secretion and insulin resistance. Objective: To review the studies from the literature, including those of the author, regarding aetiology, presentation and management of PCOS in adolescents. Results and conclusions: We have proposed that PCOS in adolescents arises as a result of a genetically determined disorder of ovarian function that results in hyper-secretion of androgens, possibly during fetal life and also during physiological activation of the hypothalamic-pituitary-ovarian in infancy and at the onset of puberty. There is plentiful evidence for a genetic basis for PCOS (it appears to be a complex endocrine disorder resulting from the effects of a several genes), but environmental factors, notably nutrition, influence the clinical and biochemical phenotype. Obesity unmasks or amplifies symptoms, endocrine and metabolic abnormalities. The increasing incidence of childhood obesity has resulted in an alarming Increase not only in distressing symptoms but also impaired glucose tolerance and even diabetes among adolescent girls with PCOS. The search for PCOS genes in this condition, that is not only heterogeneous but also presents only in women of reproductive age, is not straightforward and has produced few convincing candidates so far. In due course, however, identification of the major susceptibility loci is likely to provide key insight into the aetiology of the syndrome and improve diagnosis and management.

show abstract

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Polycystic ovary syndrome in adolescents

2008

View full text Add to dashboard Cite

show abstract

“…Women with BM-PCOS are mainly characterized by disturbances in androgen biosynthesis (8)(9)(10)(11)(12)(13)(14)(15)(16), before as well as during COH. On the other hand, women with US-PCOS have normal androgen status before COH; however, their androgen biochemical picture is changed during COH (7).…”

Section: Introductionmentioning

confidence: 99%

“…Namely, the CYP11A gene product, cholesterol side chain cleavage enzyme, catalyzes the first, rate-limiting step in steroidogenesis (17), and the gene itself is one of the candidate genes for hyperandrogenemia (8)(9)(10)(11)(12)(13)(14)(15)(16). Furthermore, the (TTTTA) n microsatellite polymorphism might influence the expression of the CYP11A gene and consequently cause abnormalities in steroidogenesis and androgen production.…”

Section: Introductionmentioning

confidence: 99%

No Association Between the Microsatellite Polymorphism (TTTTA) n in the Promoter of the CYP11A Gene and Ovarian Hyperstimulation Syndrome

Ferk¹,

Geršak²,

Teran³

2006

J Assist Reprod Genet

View full text Add to dashboard Cite

The role of mTOR in ovarian Neoplasms, polycystic ovary syndrome, and ovarian aging

Liu

Qu³

et al. 2018

Clinical Anatomy

View full text Add to dashboard Cite

The mammalian target of rapamycin, mTOR, is a serine-threonine protein kinase downstream of the phosphatidylinositol 3-kinase (PI3K)-AKT axis. The pathway can regulate cell growth, proliferation, and survival by activating ribosomal kinases. Recent studies have implicated the mTOR signaling pathway in ovarian neoplasms, polycystic ovary syndrome (PCOS) and premature ovarian failure (POF). Preclinical investigations have demonstrated that the PI3K/AKT/mTOR pathway is frequently activated in the control of various ovarian functions. mTOR allows cancer cells to escape the normal biochemical system and regulates the balance between apoptosis and survival. Some recent studies have suggested that involvement of the mTOR signaling system is an important pathophysiological basis of PCOS. Overexpression of the mTOR pathway can impair the interaction of cumulus cells, lead to insulin resistance, and affect the growth of follicles directly. The roles of mTOR signaling in follicular development have been extensively studied in recent years; abnormalities in this process lead to a series of pathologies such as POF and infertility. To improve understanding of the role of the mTOR signaling pathway in the pathogenesis and development of ovarian diseases, here we review the roles of mTOR signaling in such diseases and discuss the corresponding therapeutic strategies that target this pathway. Clin. Anat. 31:891-898, 2018. © 2018 Wiley Periodicals, Inc.

show abstract

The Genetic Basis of Polycystic Ovary Syndrome

Cited by 48 publications

References 0 publications

Polycystic ovary syndrome in adolescents

Polycystic ovary syndrome in adolescents

No Association Between the Microsatellite Polymorphism (TTTTA) n in the Promoter of the CYP11A Gene and Ovarian Hyperstimulation Syndrome

The role of mTOR in ovarian Neoplasms, polycystic ovary syndrome, and ovarian aging

Contact Info

Product

Resources

About