hrp0094p1-188 | Pituitary B | ESPE2021

Congenital hypogonadotropic hypogonadism in a large French cohort : New genetic findings

Talbi Abir , Hypogonadotropic Hypogonadism Study Group , de Roux Nicolas ,

Congenital hypogonadotropic hypogonadism (CHH) is a rare condition caused by a dysfunction of the GnRH Axis. The clinical variability of the disease is accompanied by genetic heterogeneity. Indeed, more than 40 genes are implicated in the pathogenesis of this condition. The main goal of this present study was to characterize genetic defects in a large cohort of French CHH patients using a targeted NGS panel.Patients: a cohort of 120 unrelated patients (7...