Diagnosis and treatment analysis of a case of idiopathic hypogonadotropic hypogonadism caused by NSMF gene mutation.

Idiopathic hypogonadotropic hypogonadism (IHH) is a rare endocrine disorder characterized by deficiency or dysfunction of endogenous gonadotropin-releasing hormone (GnRH), leading primarily to hypogonadism. Based on the presence or absence of olfactory dysfunction, IHH is classified into Kallmann syndrome (KS) and normosmic IHH (nIHH). In this study, we reported a 15-year-old male with nIHH, presenting with delayed puberty, hypogonadotropic hypogonadism and normal olfaction. High-throughput gene sequencing identified a novel NSMF:c.79C>G (p.Arg27Gly) variant which has not been reported in the previous literature. By summarizing the patient's clinical characteristics and analyzing new NSMF gene variant, this study enriches the mutation spectrum of NSMF gene and provides clinical data and genetic resources for the diagnosis and treatment of IHH.