Association of Genetic Polymorphism in cyp19a Gene in Patients with Polycystic Ovarian Syndrome (PCOS) and Its Correlation with Androgen Excess in South-Indian Population

Basu, Arindam; Sur, Arghya; Chakraborty, Hemontika; Dutta, Priyanka; Adhikari, Madhav

doi:10.9790/0853-131255154

Cited by 1 publication

(1 citation statement)

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“…These short repeat alleles were further found to have a positive association with hormonal parameters like increased testosterone levels and elevated LH: FSH ratios [51]. However, other studies investigating the genetic polymorphism of CYP19 did not reveal any evidence of CYP19 being involved in the etiology of PCOS [86][87][88]. The polymorphism (TTTA repeat in intron 4) of aromatase CYP19 has been studied in males also and has been associated with low bone mass.…”

Section: Cyp19 Genementioning

confidence: 99%

Hyperandrogenism in polycystic ovarian syndrome and role of CYP gene variants: a review

Ashraf

Nabi

Rasool

et al. 2019

Egypt J Med Hum Genet

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Background: Polycystic ovary syndrome (PCOS) is a multifactorial endocrine disorder characterized by anovulation, hyperandrogenism, and polycystic ovarian morphology. The pathophysiology of PCOS is not clear; however, disturbance in hypothalamic-pituitary-ovarian axis and abnormal steroidogenesis along with genetic and environmental factors act as main contributors to this disorder. Main text: Hyperandrogenism, the hallmark feature of PCOS, is clinically manifested as hirsutism, acne, and alopecia. Excessive androgen production by ovaries as well as from adrenals contributes to hyperandrogenism. Abnormalities in the neuroendocrine system like increased pulse frequency of gonadotropin-releasing hormone, stimulating the pituitary for excessive production of luteinizing hormone than that of follicle-stimulating hormone is seen in PCOS women. Excess LH stimulates ovarian androgen production, whereas a relative deficit in FSH impairs follicular development. The imbalance in LH: FSH causes proliferation of ovarian theca cells leading to increased steroidogenesis, and ultimately leading to hyperandrogenism in PCOS women. Various genetic factors have been shown to be associated with abnormal steroidogenesis. CYP genes involved in steroidogenesis play an important role in androgen production and are considered as key players in hyperandrogenism in PCOS. Conclusion: Polymorphisms in CYP genes can aggravate the hyperandrogenic phenotype in women with PCOS by either upregulating or downregulating their expression, thus increasing androgens further. However, this hypothesis needs to be validated by further studies.

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Section: Cyp19 Genementioning

confidence: 99%

Hyperandrogenism in polycystic ovarian syndrome and role of CYP gene variants: a review

Ashraf

Nabi

Rasool

et al. 2019

Egypt J Med Hum Genet

View full text Add to dashboard Cite

show abstract

Association of Genetic Polymorphism in cyp19a Gene in Patients with Polycystic Ovarian Syndrome (PCOS) and Its Correlation with Androgen Excess in South-Indian Population

Abstract: Conclusion: cyp19a gene is not associated with PCOS in South Indian population.

Cited by 1 publication

References 18 publications

Hyperandrogenism in polycystic ovarian syndrome and role of CYP gene variants: a review

Hyperandrogenism in polycystic ovarian syndrome and role of CYP gene variants: a review

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