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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 the nIHH phenotype with primary amenorrhea, cleft lip and palate, mixed hearing disorders, and skeletal malformations. Coding regions of 12 genes that have been implicated in nIHH were analyzed by direct sequencing. Mutation analysis revealed a novel mutation at exon 10 of the FGFR1 gene, 1422 C&gt;G, and a C→G transition in codon 476, which resulted in the replacement of aspartic acid with glutamic acid. The patient's family members did not possess this mutation. We briefly reviewed FGFR1 variants found in Chinese subjects. These results indicate that the mutation in FGFR1 is a cause of nIHH, which is associated with specific non-reproductive phenotypes.

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