Comprehensive review on growth hormone (GH) mutations and sequence variants in children with growth hormone deficiency

Abstract

Growth hormone (GH) is a vital peptide hormone respon­ sible for regulating growth, development and numerous metabolic functions in humans and other vertebrates. Comprising 190 amino acids, GH is synthesized and secreted by the somatotroph cells located in the anterior pituitary gland. Its gene, GH1, is part of a cluster of five related genes spanning approximately 50 kilobases on chromosome 17q22–24. The GH1 gene itself is about 2 kilobases in length and consists of five exons and four introns. Growth hormone exerts its effects both directly and indirectly through insulin­like growth factor­1 (IGF­1), influencing a broad spectrum of physiological processes. Primarily, GH is essential for somatic growth, contributing significantly to the regulation of height and skeletal development during childhood and adolescence. In adults, it continues to play a role in maintaining body composition, muscle and bone mass, and metabolism. Beyond growth, GH also affects reproductive function, cellular regeneration, and immune system modulation, underscoring its multifaceted importance in human physiology. Dysregulation of growth hormone secretion can result in various disorders, such as gigantism or acromegaly in cases of excess, and growth hormone deficiency (GHD) leading to stunted growth and metabolic issues. Understanding the molecular structure, genetic regulation and physiological functions of growth hormone is crucial for the diagnosis and treatment of such conditions. This review aims to provide an overview of growth hormone’s biological and genetic profile, as well as its significant roles in human development and health.