S Palumbo, G Cirillo, G Sanchez, F Aiello, A Fachin, F Baldo, M C Pellegrin, A Cassio, M Salerno, M Maghnie, M F Faienza, M Wasniewska, D Fintini, C Giacomozzi, S Ciccone, E Miraglia Del Giudice, G Tornese, A Grandone
PURPOSE: We aimed to investigate a cohort of female and male patients with idiopathic central precocious puberty (CPP), negative for Makorin Ring Finger Protein 3 (MKRN3) defect, by molecular screening for Delta-like 1 homolog (DLK1) defects. DLK1 is an imprinted gene, whose mutations have been described as a rare cause of CPP in girls and adult women with precocious menarche, obesity and metabolic derangement. METHODS: We enrolled 14 girls with familial CPP and 13 boys with familial or sporadic CPP from multiple academic hospital centers...
December 28, 2022: Journal of Endocrinological Investigation