GHRD is characterized by the body’s inability to utilize growth hormone, leading to stunted development. This rare condition, affecting just 400 to 500 people worldwide, was identified in a group of Ecuadorians whose ancestors had fled Spain during the Inquisition over three centuries ago. The mutation results in ineffective growth hormone receptors and a type of dwarfism.
The affected individuals in Ecuador are known as the “Laron people” and have an average height of just over 4 feet. They exhibit a number of physical characteristics, including a small face, high-pitched voice, and protruding forehead. However, despite their diminutive stature, the Laron people have been found to have a lower incidence of certain age-related diseases, such as diabetes and cancer, compared to the general population.
Researchers have been studying the Laron people for decades, seeking to understand the underlying genetic and physiological mechanisms that contribute to their unique physical and health profiles. This research has not only provided valuable insights into the biology of growth and aging but has also opened up new avenues for developing treatments and therapies for other conditions related to growth hormone signaling.