Role of gonadotropin-releasing hormone receptor mutations in patients with a wide spectrum of pubertal delay.

ABSTRACT:

Objective

To analyze the GNRHR in patients with normosmic isolated hypogonadotropic hypogonadism (IHH) and constitutional delay of growth and puberty (CDGP).

Design

Molecular analysis and in vitro experiments correlated with phenotype.

Setting

Academic medical center.

Patient(s)

A total of 110 individuals with normosmic IHH (74 male patients) and 50 with CDGP.

Intervention(s)

GNRHR coding region was amplified and sequenced.

Main outcome measure(s)

Novel variants were submitted to in vitro analysis. Frequency of mutations and genotype-phenotype correlation were analyzed. Microsatellite markers flanking GNRHR were examined in patients carrying the same mutation to investigate a possible founder effect.

Result(s)

Eleven IHH patients (10%) carr

SUBMITTER: Beneduzzi D 

PROVIDER: S-EPMC4149947 | biostudies-literature | 2014 Sep

REPOSITORIES: biostudies-literature