Purpose Impaired function of gonadotropin-releasing hormone (GnRH) neurons can cause
a phenotypic spectrum ranging from delayed puberty to isolated hypogonadotropic
hypogonadism (IHH). We sought to identify a new genetic etiology for these conditions.
Methods Exome sequencing was performed in an extended family with autosomal dominant,
markedly delayed puberty. The effects of the variant were studied in a GnRH neuronal cell
line. Variants in the same gene were sought in a large cohort of individuals with IHH. Results …