hrp0089p2-p336 | Pituitary, Neuroendocrinology and Puberty P2 | ESPE2018

A Novel Mutation in 5’; Untranslation Region of Makorin Ring Finger 3 Gene Associated with the Familial Precocious Puberty

Lu Wenli , Wang Junqi , Li Chuanyin , Hu Ronggui , Wang Wei

Central precocious puberty (CPP) is the endocrine disorder triggering by many factors those can activate the hypothalamic-pituitary-gonadal axis early which controlled GnRH secretion. However, the mechanism of CPP has not been elucidated. The study of patients with familial CPP helped understanding the complex physiological processes. Recently, loss-of-function mutations in human Makorin ring finger protein 3 (MKRN3) were found to contribute to over 30% of cases of familial CP...