hrp0098p2-240 | Pituitary, Neuroendocrinology and Puberty | ESPE2024

Serum MKRN3 levels in girls with central precocious puberty due to MKRN3 loss-of-function mutation

Baracho Macena Larissa , Ribeiro Piovesan Maiara , Almeida Bastos Aline , Fernandes Pedrosa Ludmila , Ribeiro Montenegro Luciana , Pinheiro Machado Canton Ana , Pantaleiou Valassi Helena , Bilharinho Mendonca Berenice , Claudia Latronico Ana , Nahime Brito Vinicius

Background: MKRN3 is known to decline prior to pubertal development in healthy individuals, indicating a potential inhibitor effect on reproductive axis. Currently, MKRN3 loss-of-function mutations represent the main genetic cause of familial central precocious puberty (CPP) in both sexes. The impact of these mutations on MKRN3 serum levels is poorly understood.Aim: To assess serum MKRN3 levels in girls with CPP...