Article
The clinical and genetic aspects of six individuals with GH1 variants and isolated growth hormone deficiency type II.
Frontiers in endocrinology - 1 Jan 2024
Huang Xiaozhen, Chen Hong, Shangguan Huakun, Wu Wenyong, Ai Zhuanzhuan, Chen Zhifeng, Chen Ruimin
Abstract excerpt
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,...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.