METABOLIC CONDITIONS IN PEDIATRICS: RECOGNITION AND MANAGEMENT OF LARON SYNDROME

Abstract

Laron syndrome, also known as growth hormone insensitivity, is a rare condition characterized by insulin-like growth factor 1 (IGF-1) deficiency due to congenital resistance to growth hormone (GH). This syndrome, first described in the mid-20th century, is caused by mutations in the GH receptor gene, resulting in extremely short stature, metabolic dysfunctions, and several peculiar clinical manifestations. Although rare, its scientific relevance goes beyond the scope of pediatric endocrinology, and is frequently cited in studies on longevity, protection against cancer, and resistance to metabolic diseases, such as type 2 diabetes mellitus. Patients with this condition have a distinct metabolic profile, often protected from comorbidities common in other hormone deficiencies. However, clinical challenges include early diagnosis, adequate management of associated complications, and definition of the therapeutic role of recombinant IGF-1, the main treatment option. In recent years, advances in the molecular and genetic understanding of the syndrome, combined with studies on therapeutic interventions, have broadened the perspectives for its management. This article reviews the literature on the genetic basis, pathophysiological mechanisms and clinical implications of Laron Syndrome, with a special focus on early recognition and available therapeutic strategies. The relevance of the topic is highlighted not only by its impact on the quality of life of pediatric patients, but also by the contribution of this condition as a model for studying metabolic diseases and new therapeutic approaches.