hrp0095p1-345 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

A cause of familial central precocious puberty: A Novel variant in the DLK1 gene and low serum DLK1 levels

Karakilic Ozturan Esin , Karaman Volkan , Yusuf Gelmez Metin , Yıldız Melek , Poyrazoğlu Sukran , Baş Firdevs , Oya Uyguner Zehra , Darendeliler Feyza

Background: Genetic factors play an important key role in regulating the timing of puberty. The premature activation of pulsatile release of gonadotropin-releasing hormone(GnRH) before 8 and 9 years of age in girls and boys causes central precocious puberty(CPP). Pathogenic variants in DLK1 are associated with isolated familial CPP. Here, we report three siblings with a diagnosis of CPP with novel variant in DLK1.Case Report:</st...