Year: 2025
Type: article
Study design: Observational Study
Abstract: Background: Laron Syndrome (LS) is a rare hereditary form of dwarfism occurring, with few exceptions, in Jewish, Muslim, and Asian populations or their descendants spread over all continents. It is caused by deletions or mutations in the GH-Receptor gene, resulting in high serum levels of a structurally and biologically normal, but inactive GH and low-to-undetectable IGF-I. Aim: To summarize the disabilities and handicaps observed in patients with LS, from infancy through adult age. Results: Diagnosing, treating and following a cohort of 76 patients with LS (in many cases from infancy into adult age) enabled our department to study not only their growth and social achievements, but also the difficulties these patients encounter in life. The longstanding IGF-I deficiency caused somatic and biochemical changes which led to disabilities starting in infancy and becoming more severe with advancing age. The most serious symptoms LS patients have are dwarfism, progressive obesity, diabetes, fatty liver, cardiovascular disease, and neurological and orthopedic problems, leading to difficulties in vocational training, occupation, and social life, all lowering the Quality of Life (QoL) of these patients. Conclusions: Early initiation of IGF-I replacement treatment in patients with Laron Syndrome prevents and reverses some of the symptoms associated with longstanding IGF-I deficiency.
Source: Children
Author: Zvi Laron
Institutions: Tel Aviv University, Schneider Children's Medical Center
Language: English
Subfield: Endocrinology, Diabetes and Metabolism
Field: Medicine
Domain: Health Sciences
Open Access status: gold
Estimated APC paid: $2,896
OpenAlex ID: W4414393085