Familial central precocious puberty due to DLK1 deficiency: novel genetic findings and relevance of serum DLK1 levels

Abstract

Novel loss-of-function mutations in DLK1 gene were identified in 2 French girls with CPP. Additionally, we demonstrated a pattern of dynamic changes in circulating DLK1 serum levels in humans and mice during pubertal stages, reinforcing the role of this factor in pubertal timing.