Open access
Oct 2026
Recurring and isolated intronic FGFR1 variants as an underdiagnosed cause of congenital hypogonadotropic hypogonadism
Congenital hypogonadotropic hypogonadism (CHH) is a genetically heterogeneous disorder characterized by absent or delayed puberty and infertility due to gonadotropin-releasing hormone deficiency. While loss-of-function variants in FGFR1 are the most commonly known genetic cause of CHH, diagnostic screening typica...
Michal Yacobi-Bach, Rona Hagin, Bar Levy Lando et al.
· Journal of the Endocrine Soc... · 0 citations