hrp0097p1-403 | Adrenals and HPA Axis | ESPE2023

Pediatric Cushing`s disease due to somatic USP8 mutations

Yanar Eda , Kareva Maria , Kolodkina Anna , Antysheva Zoia , Bogdanov Victor , Peterkova Valentina

Objective: Somatic mutations in the USP8 gene were discovered as the most common genetic defects in corticotropinomas with a frequency of 30 to 60% in adult patients. With regard to pediatric patients, establishing prevalence of USP8 mutations is still challenging due to the rarity of CD incidence in childhood.Aim: To determine the frequency of somatic genetic drivers of CD in a cohort of pediatric patients.<p class=...