Preprint Review Version 1 Preserved in Portico This version is not peer-reviewed

POI Culprit Is POSSIBLY Gene Mutation: A Literature Review

Version 1 : Received: 2 June 2024 / Approved: 3 June 2024 / Online: 3 June 2024 (08:22:13 CEST)

How to cite: Miao, C.; Fang, Q.; Kang, Q.; He, J. POI Culprit Is POSSIBLY Gene Mutation: A Literature Review. Preprints 2024, 2024060046. https://doi.org/10.20944/preprints202406.0046.v1 Miao, C.; Fang, Q.; Kang, Q.; He, J. POI Culprit Is POSSIBLY Gene Mutation: A Literature Review. Preprints 2024, 2024060046. https://doi.org/10.20944/preprints202406.0046.v1

Abstract

This review article delves into the multifaceted nature of primary ovarian insufficiency (POI), a condition marked by diminished ovarian function before age 40, underscoring the complexity of its aetiology encompassing genetic, autoimmune, infectious, and environmental factors. A significant focus is placed on the potential role of single-gene mutations, such as those in FMR1, BMP15, and GDF9, in the pathogenesis of POI, highlighting the intricate interplay between genetics and ovarian health. The article also explores innovative therapeutic avenues, including the activation of dormant follicles in vitro, offering hope for fertility restoration in affected individuals. Despite the prevalence of traditional treatments, such as Chinese medicine and hormone therapy, in China, these approaches often need to meet therapeutic needs, underscoring the urgency for advanced research and tailored treatment strategies. The discovery of a pituitary tumour-associated POI case further complicates the diagnostic landscape, suggesting a broader diagnostic lens and more in-depth research to unravel the complex underpinnings of POI and enhance patient care.

Keywords

in vitro activation of dormant follicles; primary ovarian insufficiency; therapeutic mechanism; gene mutation

Subject

Medicine and Pharmacology, Obstetrics and Gynaecology

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