DOI: 10.36347/sjams.2017.v05i12.030

Pages: 4937-4943

Premature ovarian failure/ insufficiency (POF/ POI) or premature menopause is commonly referred to the development of amenorrhea caused by the cessation of ovarian function before 40 years of age. In clinical practice, diagnosis of menstrual irregularity is confirmed by biochemical markers like follicle stimulating hormone (FSH), estradiol (E2), inhibin B or anti-mullerian hormone (AMH). The etiological causes of POI are highly heterogeneous but most causes of POI are idiopathic. The symptoms can vary from patient to patient and could occur spontaneously or gradually develop over the years. Here we review the various aspects of premature ovarian failure from the geneticist perspective. With advances in genomic technologies various reproductive options are now available for women suffering from POI. Genetic counselling of such women not only helps them make an informed choice but also helps them to cope with feelings of anxiety, guilt or altered feelings of self-worth. Our correlative studies on fragile x mental retardation 1 (FMR1) mutation in Indian women for POI revealed that infertile Indian women do not comprise a high-risk population to be screened for FMR1 mutation. However, diagnosing POF early would help in early intervention as well as provide for potential targets for therapeutic intervention. The use of a multidisciplinary approach would be significant in such a situation.