GNRHR biallelic and digenic mutations in patients with normosmic congenital hypogonadotropic hypogonadism.

ABSTRACT:

Objective

Normosmic congenital hypogonadotropic hypogonadism (nCHH) is a rare disorder characterised by lack of pubertal development and infertility, due to deficient production, secretion or action of gonadotropin-releasing hormone (GnRH) and, unlike Kallmann syndrome, is associated with a normal sense of smell. Mutations in the GNRHR gene cause autosomal recessive nCHH. The aim of this study was to determine the prevalence of GNRHR mutations in a group of 40 patients with nCHH.

Design

Cross-sectional study of 40 unrelated patients with nCHH.

Methods

Patients were screened for mutations in the GNRHR gene by DNA sequencing.

Results

GNRHR mutations were identified in five of 40 patients studied. Four patients had biallelic mutations (

SUBMITTER: Goncalves CI 

PROVIDER: S-EPMC5527354 | biostudies-literature | 2017 Aug

REPOSITORIES: biostudies-literature