Search

Background: Polycystic ovary syndrome (PCOS) is an endocrinopathy affecting women of reproductive age group at a global level. According to many community-based studies, the prevalence of PCOS in India ranges from 3.7 to 22.5% due to the country's enormous population. Upon ultrasound, it shows multiple cysts arranged in a bead of necklace-like appearance causing irregular menstrual cycles and infertility in most cases. It is manifested with abnormally raised testosterone and insulin levels and increased luteinizing hormone (LH)-to-follicle-stimulating hormone (FSH) ratio. Phenotypically, it is presented as obesity, hirsutism, acne and male pattern baldness, which impacts the self-esteem of young girls leading to depression and compromised quality of life. Aim: Numerous potential genes have been shown to contribute to PCOS, and the genetic linkage of PCOS has been investigated in many studies. In this study we are looking into the candidate genes, the variants, and other responsible factors behind the genesis of PCOS. This will help in better understanding of its pathogenesis and, as a result, deciphering the mechanism by proper medication. Method of the study: We comprehensively searched for publications including PCOS-relevant keywords in different areas in five different electronic databases: PubMed, Google Scholars, Elsevier, Springer Link and Science Direct up to March 2023 focusing on the new ones. We excluded non-English articles, conference papers and studies that were overlapping. Chosen articles were carefully read and further articles that were retrieved from their references were also reviewed so as to make the search complete with the inclusion criterion. Result: This review summarizes PCOS as an polygenic and a multifactorial complex disease in which a vast array of genetic and environmental factors are involved. Genes that affect steroidogenesis (ovarian and adrenal), gonadotropin action and regulation, insulin action and secretion, body mass index and chronic inflammation are directly or indirectly associated with PCOS. Conclusion: In this study, research of the genetic propensity to PCOS was made, though not in-depth. With the acquired knowledge of array of genes involved, targeted efforts can be made for the potential therapeutic management of the PCOS patients via the novel discovered routes. Moreover, understanding more about PCOS would be beneficial in prevention of the associated metabolic disorders, life-threatening morbidities, restoring fertility and raising the self-esteem of the young women. [ABSTRACT FROM AUTHOR]

Background: Amenorrhea is the absence of menstruation in women of reproductive age. The physiology of menstruation and reproduction has a strong correlation with the expression of the X chromosome. Early referral for cytogenetic evaluation is recommended for the identification of underlying chromosomal aberrations in amenorrhoea patients. This study aims to estimate the frequency and types of chromosomal abnormalities in primary amenorrhoea (PA) patients in western India and correlate their hormonal profile and sonographic findings with chromosomal reports. Patients and methods: Clinical features of 100 patients along with their hormonal profile and sonographic findings were recorded. Karyotyping was done after taking informed consent from the patients. Molecular cytogenetic technique was used to confirm marker chromosomes and ring chromosomes. Results: The results revealed 89% of PA with normal female karyotype (46,XX) and 11% with different abnormal karyotypes. Majority of females with normal karyotype were having Mullerian defects and among them most of them were categorized under Rokitansky syndrome. Among the abnormal karyotype constituents, 27.3% numerical abnormalities, all were Turner syndrome; pure and mosaic. Four cases (36.4%) showed male (XY) karyotype. The other four cases (36.4%) showed structural abnormalities, among which three cases showed X-associated structural abnormality and one case showed balanced translocation. Conclusion: This study emphasizes the need for cytogenetic analysis as an integral part of the diagnostic protocol in the case of PA for precise identification of chromosomal abnormalities; and for appropriate reproductive management. Early detection of abnormalities is necessary for guidance to reproductive options and genetic counselling. [ABSTRACT FROM AUTHOR]