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