Genetic Study of Premature Ovarian Insufficiency in Women Under 38 with Normal Chromosomes

What this Trial Is About

Primary ovarian insufficiency POI, also known as premature ovarian failure, is a condition where ovarian follicles are depleted before the age of 40. It affects about 1% of women and can cause infertility, poor ovarian response during IVF, and other health issues like psychological distress, osteoporosis, autoimmune disorders, and heart disease. The causes of POI are varied and include genetic, autoimmune, infectious, or treatment-related factors, but the exact cause remains unknown in many cases. Researchers are investigating the genetic basis of idiopathic POI to better understand its causes and variability among patients. This study is observational and focuses on examining genetic variants and copy number variations in women with idiopathic POI using genome-wide techniques such as high resolution array-CGH and whole exome sequencing WES. It involves two groups women with sporadic POI diagnosed before age 38 with specific ovarian reserve markers, and familial POI cases including unaffected family members. The study aims to identify new genes associated with POI by combining data from different genetic analysis methods over a long period. Participants will be evaluated through genetic testing and analysis of clinical ovarian function markers like FSH, AMH, and antral follicle count. The study will monitor the presence of genetic variants related to POI and how these variants co-segregate with the condition. The primary outcomes focus on discovering putative POI-related genes and integrating genetic data from multiple methods. The study is planned to continue up to the year 2030, allowing long-term investigation of genetic contributions to POI.

Investigation of Copy Number Variations and Genetic Variants in POI