Amenorrhea

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

X. L. Wang, Wang, D. D., Gu, J. Q., Zhang, N., and Shan, Z. Y., A female patient with normosmic idiopathic hypogonadotropic hypogonadism carrying a novel mutation in FGFR1, vol. 13, pp. 9472-9476, 2014.

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.

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