The polycystic ovary syndrome (PCOS), mainly characterized by clinical and/or biochemical hyperandrogenism, ovarian dysfunction and/or polycystic morphology as well as associated metabolic disorders, is the most common endocrine disorder in women of reproductive age. The familial clustering of PCOS cases and the accumulating evidence that the interaction between multiple genetic and environmental factors is necessary for the development of the syndrome, has triggered the conduct of genetic studies on PCOS. These studies have focused on many genetic polymorphisms, investigating their possible positive or negative correlation with the syndrome. The related genes can be grouped in four categories: those related with insulin resistance, those that interfere with the biosynthesis and the action of androgens, those that encode inflammatory cytokines and other candidate genes. Despite the progress that has been made in the elucidation of the genetic mechanisms of the PCOS, the genetic studies on the syndrome still face many obstacles and challenges. Further studies are needed, in order to shed new light in the pathogenesis of the syndrome, which will allow for new approaches in the diagnostics and therapeutics of PCOS.

The aim of the study was to examine the frequency and relationship of peroxisome proliferator-activated receptor (PPAR)-γ and PPAR-δ gene polymorphisms to polycystic ovary syndrome (PCOS) characteristics. We conducted a case-control study protocol, which included 183 PCOS women and 148 healthy volunteers. Genetic, clinical, hormonal, and metabolic characteristics of PCOS patients and controls were estimated and compared. Genotype and allele frequencies did not differ significantly. The Pro(12) Ala polymorphism in exon 2 of the PPAR-γ gene was found in low frequency. Regarding the polymorphism in exon 6, the T-allele carrier PCOS women had significantly lower total testosterone levels. Regarding the +294T/C polymorphism in the exon 4 of the PPAR-δ gene, the C-allele carrier PCOS women had significantly higher fasting glucose levels. In conclusion, the PPAR-γ gene polymorphisms do not appear to affect the risk for PCOS, except for the reduced testosterone levels. The +294T/C polymorphism in the exon 4 of the PPAR-δ gene seems to cause an increase in fasting glucose levels.

articles intervention and Preventionabsolute levels of circulating sex hormones and not percent changes (4,10,11). A possible interaction of BMI with the effect of HT on circulating estrogens may have clinical relevance in HT-related breast cancer risk. A collaborative reanalysis of data from 51 epidemiological studies (12) as well as the Million Women Study reported a higher relative risk of breast cancer in women of lower BMI, without, however, evaluating sex hormone levels (13).The aim of our study was to evaluate the effect of BMI on the change in sex steroid levels in postmenopausal women during 6 months of continuous combined low-dose HT. Methods and Procedures subjectsThis prospective open label study included originally 50 healthy women, eligible to receive HT from the Menopause Clinic of the Second Department of Obstetrics and Gynecology, University of Athens, Aretaieion Hospital. The women recruited for this study had been postmenopausal for at least 1 year and had intact ovaries and uterus. All women had moderate to severe vasomotor symptomatology.Before recruitment, patients underwent a gynecological and biochemical evaluation which included: Bimanual examination, breast examination, and mammography, PAP smear and transvaginal sonography, thyroid-liver-renal function, and bone densitometry. Inclusion criteria in the study were a sonographically assessed endometrial thickness ≤5 mm, and the absence of current or previous exposure to HT, gynecological malignancy, ischemic heart disease, thromboembolism, diabetes mellitus, nontreated thyroid dysfunction, or a history of estrogen-related cancer. Women with adherence and retention concerns (e.g., alcoholism) were not included in the study.

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