hrp0095p1-345 | Pituitary, Neuroendocrinology and Puberty | ESPE2022
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...