hrp0098p2-397 | Late Breaking | ESPE2024

The molecular genetic etiology of POI in non-Turner syndrome girls diagnosed in childhood or adolescence: A single-center experience

Akın Leyla , Yılmaz Ayşegül , Ilguy Muge , Aydın Murat

Background: Primary ovarian insufficiency (POI), characterized by amenorrhea with elevated gonadotropin concentrations, includes a spectrum ranging from 46, XX gonadal dysgenesis to premature menopause. There is increased evidence that it has a strong genetic basis in its etiology, however, since its rarity and special condition that does not permit the definition of families with this disorder, the molecular diagnosis remains elusive in most of these patients...