Abstract

Abstract Polycystic Ovarian Syndrome (PCOS) is a common endocrine disorder in women during their reproductive age. This study was design to establish the relationship between this syndrome and follicle stimulating hormone receptor defect by determination of lethal single nucleotide polymorphism that may play a vital role in this syndrome. A total number of 500 women attending Kamal Al- Samarrai Hospital diagnosed with PCOS were selected and divided according to their age into group one which includes (20–30) years old women, group two included (31–40) years old women, and group three which included (41–50) years old women. Fertility hormones (FSH, LH, and testosterone) were tested for all groups. Results showed that LH increased significantly in groups three with low FSH, whereas testosterone increased significantly in age group two. Molecular analysis of whole FSHR gene amplified using specific primers showed the presence two SNPs rs6166, and rs6165 which are associated with drug response and 9 lethal missense mutation that caused sever effect on FSHR, that probably render this receptor more sensitive to FSH without the possibility of feed back inhibition.

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