Laron Z
Endocrinology and Diabetes Research Unit, Schneider Children's Medical Center of Israel and Sackler Faculty of Medicine, Tel Aviv University, Petah Tiqva.
J Pediatr Endocrinol Metab. 1999 Apr;12 Suppl 1:231-49.
A description of the clinical, biochemical and endocrinological features of the classical form of the syndrome of primary growth hormone (GH) resistance (Laron syndrome) is presented including the progressive changes during follow-up from infancy into adulthood. The main diagnostic features are: severe growth retardation, acromicria, small gonads and genitalia, and obesity. Serum GH levels are elevated and insulin-like growth factor-I (IGF-I) values are low and do not rise upon stimulation by exogenous hGH. The pathogenesis of this syndrome is due to various molecular defects from exon deletion to nonsense, frameshift, splice and missense mutations in the GH receptor (GH-R) gene or in its post-receptor pathways.
本文描述了原发性生长激素（GH）抵抗综合征（拉伦综合征）经典形式的临床、生化和内分泌特征，包括从婴儿期到成年期随访期间的渐进性变化。主要诊断特征为：严重生长迟缓、四肢短小、性腺和生殖器小以及肥胖。血清GH水平升高，胰岛素样生长因子-I（IGF-I）值低，且外源性hGH刺激后不升高。该综合征的发病机制是由于GH受体（GH-R）基因或其受体后途径中从外显子缺失到无义、移码、剪接和错义突变等各种分子缺陷。
