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Novel variants associated with premature ovarian insufficiency in Russian adolescents

IntroductionWhile variants in hundreds of genes have been linked to premature ovarian insufficiency (POI), monogenic disorders account for fewer than half of idiopathic POI cases in adolescents with 46,XX karyotype. This highlights the need for the further genetic investigation across diverse popula...

Ausführliche Beschreibung

Gespeichert in:
Hauptverfasser: Polina Tsabai, Zaira Kumykova, Victoria Averkova, Nadezhda Pavlova, Dmitry Maslennikov, Anna Bolshakova, Zalina Batyrova, Tamara Kolpakova, Andrey Bystritskiy, Natalia Karetnikova, Alexey Ekimov, Andrey Goltsov, Maria Kuznetsova, Anna Turchinets, Irina Mukosey, Taisiya Kochetkova, Igor Sadelov, Jekaterina Shubina, Elena Uvarova, Svetlana Yureneva, Dmitry Trofimov, Gennady Sukhikh
Format: Artigo
Sprache:Inglês
Veröffentlicht: Frontiers Media S.A. 2025-11-01
Schriftenreihe:Frontiers in Endocrinology
Schlagworte:
premature ovarian insufficiency
ovarian dysgenesis
whole-exome sequencing (WES)
FMR1
differences of sex development (DSD)
adolescent
Online-Zugang:https://www.frontiersin.org/articles/10.3389/fendo.2025.1687148/full
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