A case report of congenital idiopathic hypogonadotropic hypogonadism caused by novel mutation of GNRHR gene

摘要

Congenitalidiopathic hypogonadotropic hypogonadism(IHH) isarare geneticformof hypogonadism,characterized by delayed orabsent puberty. Otherassociated nonreproductive phenotypes, such ascleft palate, sensorineural hearing loss,and anosmia, occur with variable frequency. [1] IHHis termed as Kallmann syndrome, when in the presence ofanosmia or hyposmia, or referred to as normosmicIHH(nIHH), without olfactory abnormalities. [2] Up to now, related phenotypic variability and its genetic heterogeneity have been described. [3] The occurrence ofIHHinmen is morecommon thanwomen, with a male predominance of 3–5:1.