Searchable abstracts of presentations at key conferences in endocrinology

ea0081ep906 | Reproductive and Developmental Endocrinology | ECE2022

Primary Ovarian Insufficiency in RMND1 Mitochondrial Disease

Boros Emese , Elilie Mawa Ongoth Farel , Heinrichs Claudine , Mansbach Anne Laure , Seneca Sara , Aeby Alec , Ismaili Khalid , Brachet Cecile

Context: The genes implicated in premature ovarian failure play a role in crucial biologic processes such as DNA repair, meiosis, germ cell recruitment, steroidogenesis and mitochondrial function. Mitochondrial disorders are varied in their onset, inheritance pattern, and clinical presentation, but they often cause dysfunction in organs with high energy demands. Frequent features include hypertrophic cardiomyopathy, heart conduction defects, myopathy, sensorineural deafness, c...