ISSN 1662-4009 (online)

ey0021.7-6 | Clinical Guidance and Studies | ESPEYB21

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

L Montenegro , C Seraphim , F Tinano , M Piovesan , APM Canton , K McElreavey , S Brabant , NP Boris , M Magnuson , RS Carroll , UB Kaiser , J Argente , V Barrios , VN Brito , R Brauner , AC Latronico

Brief Summary: This cross-sectional study identifies two pathogenic variants in the Delta-like noncanonical notch ligand 1 ( DLK1 ) gene in a French cohort of 121 children with idiopathic central precocious puberty (CPP).DLK1 is a noncanonical ligand of the Delta Notch pathway known to be involved in adipocyte differentiation. Its hypothalamic expression suggests a potential role in coordinating reproductive and metabolic functions. Pathogenic v...