Disabilities and Handicaps of Patients with Laron Syndrome

Background: Laron Syndrome (LS) is a rare hereditary disease 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, many since 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 lead to disabilities starting already in infancy and becoming more severe with advancing age. The most serious handicaps LS patients have are dwarfism, progressive obesity, diabetes, fatty liver, cardiovascular disease, neurological and orthopedic problems, leading to difficulties in vocational training, occupation and social life, all lowering the Quality of Life (QoL) of these patients. Conclusion: Early initiation of IGF-I replacement treatment of patients with Laron Syndrome prevents and reverses part of the handicaps of the longstanding IGF-I deficiency.