Laron syndrome

Laron syndrome is an inherited disorder of growth hormone insensitivity, usually caused by growth hormone receptor defects. It impairs insulin-like growth factor 1 production and causes short stature.

Connect

Growth hormone receptor: A cell-surface receptor that binds growth hormone and activates intracellular signaling. Mutations in this receptor are the most common cause of Laron syndrome.
Insulin-like growth factor 1 generation test: A test that measures IGF-1 response after administration of growth hormone. A poor IGF-1 response can help identify growth hormone resistance.
Zvi Laron: An Israeli pediatric endocrinologist who described the growth disorder now known as Laron syndrome. His clinical work established the syndrome as a distinct form of growth hormone insensitivity.
Growth hormone deficiency: A condition in which inadequate growth hormone secretion impairs normal growth and metabolism. Unlike Laron syndrome, it begins with too little growth hormone rather than resistance to it.
Cancer epidemiology: The study of cancer patterns, causes, and outcomes across populations. Laron syndrome cohorts have been studied for cancer rates in the setting of low IGF-1.
Growth hormone: A pituitary hormone that promotes growth and influences metabolism, partly by stimulating IGF-1 production. In Laron syndrome, growth hormone is present but cannot signal normally through its receptor.
Genetic testing: Laboratory analysis of DNA to identify variants associated with disease or inherited traits. Testing can confirm pathogenic variants in the growth hormone receptor gene.
Growth hormone receptor gene: The gene encoding the cell-surface receptor that binds growth hormone. Identifying defects in this gene explained many cases of the syndrome.
Pituitary dwarfism: Short stature caused by deficient pituitary hormone production, especially growth hormone. The low growth hormone levels typical of this condition contrast with Laron syndrome's elevated levels.
Insulin resistance: A reduced cellular response to insulin that can contribute to elevated blood glucose. Metabolic features associated with growth hormone resistance can include altered insulin sensitivity.