الفهرس 
Polycystic Ovarian SyndromeOnly 14 pages are availabe for public view
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Abstract
Polycystic Ovarian Syndrome (PCOS) is the most common endocrine abnormality in reproductive-age women. It is a heterogeneous disorder, characterized by menstrual disturbances, clinical and biochemical manifestations of hyperandrogenism and polycystic ovaries.
PCOS frequently coexists with obesity and type 2 diabetes mellitus. The evidence from family-based and unrelated association studies suggests that obesity and PCOS have a significant inherited basis, pointing to a shared genetic predisposition in contributing to their co-occurrence.
Fat mass and obesity-associated (FTO) gene was the first major success in the field of obesity genetics. The human FTO gene is located on chromosome 16 and expressed in a wide range of tissues, including the adipose tissue and specific areas of the brain and muscles, suggesting its potential role in body weight regulation.
The FTO gene is highly polymorphic, and several polymorphisms of the gene have been described. The variant FTO rs9939609, located within the first FTO intron has two alleles, A and T, the former has been linked to an increased risk of both obesity and type 2 diabetes mellitus.
The present study investigated the association between the common variant rs9939609 of FTO gene with polycystic ovary syndrome in Egyptian women.
For this purpose samples were collected from twenty five patients diagnosed as PCOS according to the criteria of Rotterdam Revised (2003) (group I) and twenty five (25) age-matched healthy females (group II)
All individuals in this study were subjected to the full history taking, physical examination including height and weight to calculate Body Mass Index (BMI), Pelvic Ultrasound and Lab investigations including Serum total testosterone, Follicle stimulating Hormone (FSH), Luteinizing Hormone (LH) and prolactin, Fasting plasma glucose, fasting Insulin, Homeostasis Model Assessment of Insulin Resistance (HOMA IR) was calculated as well as Detection FTO rs9939609 Polymorphism by real time Polymerase Chain Reaction (PCR).
This study revealed a significant difference between PCOS patient group and control group as regards the of FTO genotypes A/A, A/T and T/T. An increase in frequency of A/T and T/T genotypes in PCOS patient group (56% A/T and 8% T/T) compared with control group (4% and 0% in control group; respectively). This association was not only in obese, but also in non-obese. Association was detected also in the presence or absence of insulin resistance in such patients
Also, in the present work, the association of FTO rs9939609 with clinical and biochemical parameters in PCOS women was examined, showing no significant difference in the different studied parameters in patients group as regards 3 FTO genotypes (A/A, A/T and T/T) (P value > 0.05).
In conclusion, the study had demonstrated that variant rs9939609 in FTO gene is associated with PCOS in Egyptian women. The association has been disclosed both in obese and non-obese patients as well as PCOS patients with insulin resistance and without.
Clinical and Chemical Pathology