A novel STAG3 variant associated with primary ovarian insufficiency
Year: 2025
Type: article
Study design: Case Report
Abstract: Primary ovarian insufficiency (POI) is a complex condition affecting women under the age of 40 years, characterized by ovarian dysfunction and reduced fertility. Genetic mutations, including those in the STAG3 gene, have been increasingly recognized as contributors to POI, particularly in populations with consanguinity. Here, we report a novel STAG3 homozygous missense variant, c.926T>C (p.Phe309Ser), in a 15-year-old Indian girl presenting with delayed menarche, features of gonadal dysgenesis, and 46,XX karyotype. This variant, located in the Regulator of Chromosome Condensation 1 (RCC1) domain of the STAG3 protein, likely disrupts the cohesin complex’s function in meiosis, leading to premature depletion of ovarian follicles and POI. This case highlights the importance of genetic testing in young patients with unexplained gonadal dysgenesis and emphasizes the need for further studies to explore the molecular mechanisms underlying STAG3-associated POI.
Language: English
Field: Medicine
Domain: Health Sciences
Open Access status: hybrid
OpenAlex ID: W4408483011