A female patient with normosmic idiopathic hypogonadotropic hypogonadism carrying a novel mutation in FGFR1

Mutations in the fibroblast growth factor receptor 1 gene (FGFR1) have been reported in patients with Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism (nIHH). Here, we report an nIHH patient with a novel mutation in FGFR1. The patient was a 19-year-old female who presented th...

Ausführliche Beschreibung