Primary Ovarian Insufficiency: Current Understanding and Diagnostic Approaches

Abstract

Primary ovarian insufficiency (POI) is a medical condition where ovarian function stops prematurely, typically before the age of 40. This condition leads to infertility and produces symptoms similar to those experienced during menopause. Although the origins of POIs are diverse, genetic elements substantially influence their emergence. This assessment delves into the genetic facets of POI, covering genetic triggers, detection, and genetic consultation. We scrutinize the genes linked to POI and their function in ovarian activity, as well as the genetic deviations and mutations that foster POI onset. We also examine the challenges and limitations of genetic testing and counseling for POI and suggest ways to address these challenges. This review offers a thorough examination of the existing understanding of the genetic factors linked to Primary Ovarian Insufficiency (POI) emphasizing the critical need for further investigation in this field.