Short stature related to Growth Hormone Insensitivity (GHI) in childhood

Abstract

Linear growth during childhood is the result of the synergic contribution of different factors. The best growth determinant system during each period of life is represented by the growth hormone–insulin-like growth factor axis (GH–IGF), even if several other factors are involved in normal growth. Within the broad spectrum of growth disorders, an increased importance has been placed on growth hormone insensitivity (GHI). GHI was reported for the first time by Laron as a syndrome characterized by short stature due to GH receptor (GHR) mutation. To date, it is recognized that GHI represents a wide diagnostic category, including a broad spectrum of defects. The peculiar characteristic of GHI is the low IGF-1 levels associated with normal or elevated GH levels and the lack of IGF-1 response after GH administration. Recombinant IGF-1 preparations may be used in the treatment of these patients.

Current Trends in the Clinical Approach of Idiopathic Short Stature in Children: Focus on Growth Hormone Therapy and Diagnostic Challenges

“…Treatment with recombinant human IGF-I is indicated in specific cases, such as Laron syndrome and mutations in growth hormone activation pathways and their membrane receptors, and presents benefits both in height and facial characteristics of these patients (MASTROMAURO, GIANNINI, CHIARELLI, 2023).…”

Creatine Acts as a Mediator of the Causal Effect of Obesity on Puberty Onset in Girls: Evidence from Mediation Mendelian Randomization Study

“…This cascade of events leads to the development of secondary sexual characteristics and the acquisition of reproductive capacity [ 1 ]. Growth hormone (GH) and insulin-like growth factor-1 (IGF-1) also increase markedly during puberty, contributing to the linear growth during this period [ 1 , 2 ]. The secular trend towards earlier puberty worldwide has become a public health concern due to its potential impact on increasing the risk of multiple mental and physical diseases including depression, anxiety, type 2 diabetes (T2D), cardiovascular diseases (CVDs), and reproductive diseases [ 3 ].…”