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Review Article

RMJ. 2019; 44(4): 875-879

Diagnostic value of follistatin gene mutations in women with polycystic ovary syndrome

Sadia Zia, Maham Mushtaq, Mushtaq Ahmed Saleem.

Polycystic ovary syndrome (PCOS) is consider as the most common endocrine disorder in women of reproductive age. Strong evidence for a link between the follistatin gene and PCOS has been found in different studies. Follistatin binds to activin and affects its functions, secretion, and stimulation of FSH synthesis (follicle-stimulating hormone). It plays an important role in the functional impairment of the FSH-granulosa cell axis in PCOS. Gene implicated in ovarian follicular development may have a role in the etiology of PCOS, as demonstrated by the identification of the follistatin gene as a potential disease locus. It seems unlikely that PCOS can be explained based on single-gene disorder. One gene may have a predominant effect. Follistatin has been reported as a candidate gene for PCOS for linkage and associated studies. The objective of this review is to define the linkage between PCOS and the follistatin gene and the diagnostic value of PCOS.

Key words: Mutation, Follistatin gene, polycystic ovary syndrome, Hyperandrogonism.

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