hrp0092p1-105 | Pituitary, Neuroendocrinology and Puberty | ESPE2019
, Bercovich Dani
, Tenenbaum-Rakover Yardena
Background: Mutations in the imprinted gene MKRN3 have been associated with inherited central precocious puberty (CPP). MKRN3 is a maternal imprinted gene and the disease is exclusively paternally transmitted in an autosomal dominant manner. Although the mechanism is unclear, it has been suggested that MKRN3 inhibits hypothalamic GnRH release, leading to a loss-of-function mutation and CPP. To date, more than 20 MKRN3mutations have b...