The clinical and genetic aspects of six individuals with GH1 variants and isolated growth hormone deficiency type II.

ABSTRACT:

Background

Isolated growth hormone deficiency type II (IGHD II) is an autosomal dominant disorder characterized by a GH1 gene variant resulting in a significant reduction in growth hormone (GH) secretion and a subsequent decrease of plasma insulin-like growth factor 1 (IGF-1) levels and eventual growth impairment.

Objective

This study aimed to identify causative variants in six Chinese families with IGHD II, exploring both clinical and genetic characteristics.

Methods

Detailed clinical data, including clinical presentations, physical charateristics, medical and family histories, as well as genetic test results, were systematically examined.

Results

Six children, comprising four males and two females, with a mean age of 4.64 ± 1.15 years, exhibited short

SUBMITTER: Huang X 

PROVIDER: S-EPMC11491352 | biostudies-literature | 2024

REPOSITORIES: biostudies-literature