Premature ovarian failure (POF) is a heterogeneous disorder, defined as menopause under age 40 years. The prevalence is 1%; POF before age 30 years is much less common. Chromosomal causes have long been recognized - visible deletions of the X chromosome, 45, X/46, XX mosaicism, and autosomal rearrangements (balanced translocations). Toxins or iatrogenic causes (e.g., chemotherapeutic agents) are occasionally implicated; autoimmune causes exist. However, lack of explanations for most cases has led to the deduction that single gene mutations (autosomal or X-linked) must be responsible for most cases of POF. With molecular technology it is now possible to determine if a single cell is perturbed in POF. Many attractive candidate genes exist, usually based on animal models (mice).The most common single gene responsible for POF if perturbed is FMR1 (fragile X), CGG expansion explaining perhaps 5% of sporadic cases. A predictable set of genes whose perturbations cause POF are those encoding gonadotropins (FISH, LH) or their receptors (FSHR, LHR). Mutations in these gonadotropin-related genes are known but rare except for FSHR mutations in Finland. Other genes expressed during oogenesis have been interrogated by ourselves, including DNA binding proteins and transcription factors (NOBOX and LHX8), RNA binding proteins (NANOS, TGFb family members such as GDF9), and G protein receptors (GPR3). Additional genes expressed in oocytes (AT2, KIT, NOGGIN, MIS, MISR, BAX, RFPL4), are attractive candidates. To date causative mutations have still been identified in only a few genes (NOBOX, GDF9, LDX8, BMP 15) each explaining perhaps 1-2% of POF cases. However, population-specific studies are still limited, and a single mutation may prove important in certain populations like FSHR in Finland. Genome wide association studies (GWAS) are in progress and exome-sequencing planned.Clinical significance will arise from identifying POF genes. 1) Better prognosis and ovarian preservation can be offered for younger for younger family members having the same mutation; 2) Therapeutic replacement products can be envisioned to militate against ovarian failure.

BACKGROUND: The incidence of cardiovascular disease (CVD) and its risk factors increase after menopause, thus realizing that the effect of menopause on women’s health is becoming ever more vital.OBJECTIVE: The aim of this study was to investigate the menopausal effect on cardiovascular risk factors in elevated triglycerides (TG) and waist circumference (WC) phenotype, and to compare this phenotype among pre- and postmenopausal women.METHODS: A total of 4146 women were randomly selected for this study from three districts of Isfahan, Arak, and Najafabad in Isfahan Healthy Heart Program (IHHP). Anthropometric, physical, and biochemical factors were assessed using standard methods. All variables were studied based on the menopause status and the levels of TG and WC.RESULTS: Twenty-five point three percent of the postmenopausal women and 9.5% of the pre-menopausal women were hyper-TG/WC phenotype; however, the highest percent (77.1%) belonged to high-WC women in the postmenopausal group. In comparison with the postmenopausal women, the premenopausal women were more physically active, with higher education level, but lower BMI, WC, waist to hip ratio, and less likely to be smoker. In postmenopausal women, biochemical factors including fasting blood sugar and lipid profiles were significantly higher than the premenopausal women. There was no significant difference for multivariate-adjusted means of cardiovascular risk factors for menopause in different phenotypes of the WC and TG groups after adjustment for age and BMI.CONCLUSION: Hyper- TG/WC phenotype was more prevalent in postmenopausal women and menopause is not independently associated with CVD risk factors.

Background: menopause is a step of a woman’s life when hormonal changes cause menstruation to stop permanently. Menopausal symptoms can affect women's health and differ between different races and societies.Objective: The aim of this study was to survey the symptoms associated with menopause among Iranian women living in Tehran, Iran.Materials and Methods: In this cross sectional study which has been done between 2004 and 2005, women aged equal or more than 35 years old living in districts of Tehran were selected by multistage randomized cluster sampling. For each woman a questionnaire was completed. The data gained from each questionnaire was analyzed by using SPSS version 13.Results: At time of study, 2462 women were naturally menopause. The mean age of natural menopause onset was 47.71 (SE=0.11) years. In 52.9% of cases, the onset of menopause was sudden. The symptoms associated with menopause were night sweats (61.2%), joint and muscle pain (59.9%), hot flashes (53.1%), fatigue (45.6%), decreased libido (33.9%), insomnia (33.7%), weight gain (30.1%), forgetfulness (24.9%) and urinary symptoms (17.4%).  Conclusion: This study showed that night sweats, joint and muscle pain and hot flashes are the most common symptoms associated with menopause.