Familial central precocious puberty due to inactivation of the MKRN3 gene: case report

Central precocious puberty results from premature activation of the hypothalamic-pituitary-gonadal axis. The factors involved in central early puberty are still poorly understood. Recently, mutations in the makorin ring finger protein 3 (MKRN3) gene have been identified in familial cases. We report the case of two sisters with central precocious puberty. The diagnosis, carried out by molecular analysis, showed an inactivating mutation of the MKRN3 gene.