Novel mutation in the gonadotropin-releasing hormone receptor (GNRHR) gene in a patient with normosmic isolated hypogonadotropic hypogonadism

摘要: We report a novel GNRHR mutation in male with normosmic isolated hypogonadotropic hypogonadism (nIHH). The coding region of the gene was amplified and sequenced. Three variants p.[Asn10Lys;Gln11Lys]; [Tyr283His] were identified sporadic complete nIHH. three absent controls (130 normal adults). Familial segregation showed that previously described p.Asn10Lys p.Gln11Lys are same allele, compound heterozygozity variant p.Tyr283His. p.[Asn10Lys;Gln11Lys] known inactivating mutations. p.Tyr283His affects well-conserved residue, silico analysis suggested it is deleterious variant. describe Absence control group, conservation among species, analysis, familial suggest p.Tyr283His, which variants, an mutation. Arq Bras Endocrinol Metab. 2012;56(8):540-4