hrp0098p2-383 | Late Breaking | ESPE2024

Transcriptome Analysis of Adult Females Previously Affected by Central Precocious Puberty due to DLK1 Mutations

Bellido More Candy , Ortiz Rojas César , Pinheiro-Machado Canton Ana , Nahime Brito Vinicius , Claudia Latronico Ana

Background: Loss-of-function mutations in the Delta Like Non-Canonical Notch Ligand 1 (DLK1) gene have been identified in patients with central precocious puberty (CPP) and were associated with metabolic and reproductive alterations at adulthood.Objectives: To evaluate the effects of DLK1 loss-of-function mutations on metabolism and other biological process in adult women who had previously CPP in child...