Primary Ovarian Insufficiency: A Case of the Cart before the Horse

Abstract

Overt Primary Ovarian Insufficiency (POI) is a rare disorder characterized by a constellation of other rare conditions, posing significant diagnostic and management challenges. This disorder necessitates a global mechanism for information exchange, streamlined data sharing, dynamic international partnerships, and the integration of artificial intelligence to enhance diagnostic accuracy through next-generation sequencing and specific antibody testing. Empowering women with POI involves providing them with access to the best available evidence at the point of care and facilitating informed decisions throughout their health journey. A key strategy is transcending the traditional biomedical model by adopting a population-based approach that encourages global cross-sectional collaboration. Optimal care for women with POI is achieved through an integrated, multidisciplinary approach that leverages diverse expertise to evaluate evidence and update care practices effectively. Initiatives are also underway to establish a patient advocacy group, emphasizing the importance of early diagnosis in allowing women to adapt family planning or preserve fertility. The overarching vision for POI research and care aims to cultivate proactive international partnerships and data sharing, driven by the needs and experiences of women with Overt POI.