A novel homozygous splice acceptor site mutation of KISS1R in two siblings with normosmic isolated hypogonadotropic hypogonadism

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

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 skel...

Two Families with Normosmic Congenital Hypogonadotropic Hypogonadism and Biallelic Mutations in KISS1R (KISS1 Receptor): Clinical Evaluation and Molecular Characterization of a Novel Mutation

CONTEXT KISS1R mutations have been reported in few patients with normosmic congenital hypogonadotropic hypogonadism (nCHH) (OMIM #146110). OBJECTIVE To describe in detail nCHH patients with biallelic KISS1R mutations belonging to 2 unrelated families, and to functionally characterize a novel KISS1R mutation. RESULTS An original mutant, p.Tyr313His, was found in the homozygous state in 3 aff...

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

We report a novel GNRHR mutation in a male with normosmic isolated hypogonadotropic hypogonadism (nIHH). The coding region of the GNRHR gene was amplified and sequenced. Three variants p.[Asn10Lys;Gln11Lys]; [Tyr283His] were identified in the GNRHR coding region in a male with sporadic complete nIHH. The three variants were absent in the controls (130 normal adults). Familial segregation showed...

Kallmann's syndrome and normosmic isolated hypogonadotropic hypogonadism: two largely overlapping manifestations of one rare disorder.

Two novel GnRHR gene mutations in two siblings with hypogonadotropic hypogonadism.

OBJECTIVE Mutations in the gonadotropin-releasing hormone receptor (GnRHR) gene are the cause of isolated hypogonadotropic hypogonadism (HH). We describe the molecular investigations of the GnRHR gene in two siblings affected by HH and their clinical course. DESIGN The female was referred at age 14 for pubertal delay with no secondary sexual signs, whereas the male had been followed since pre...