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

CONCLUSIONS: Novel loss-of-function mutations in DLK1 gene were identified in two 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.PMID:37703313 | DOI:10.1093/ejendo/lvad129

Source: European Journal of Endocrinology - September 13, 2023 Category: Endocrinology Authors: Luciana Montenegro Carlos Seraphim Fl ávia Tinano Maiara Piovesan Ana P M Canton Ken McElreavey Severine Brabant Natalia P Boris Melissa Magnuson Rona S Carroll Ursula B Kaiser Jes ús Argente Vicente Barrios Vinicius N Brito Raja Brauner Ana Claudia Lat Source Type: research