A novel homozygous point mutation and deletion in exon 3 of growth hormone receptor causes laron syndrome: A case study

Laron syndrome is mainly an autosomal recessive disorder that is caused by the body's inability to utilize the growth hormone (GH) secreted by the pituitary gland. As the name suggests, GH is an important hormone that regulates the overall growth of the body throughout the lifetime of an individual. GH exerts its effect on binding to the GH receptors (GHRs), which thereby initiate a signaling cascade resulting in the production of insulin-like growth factors (IGFs). Clinically, individuals with Laron syndrome harbor mutations in the gene encoding GHR, which results in normal to high serum GH levels, negligible or no IGF1 production, low levels of GH binding proteins, hypoglycemia, and high insulin sensitivity. Physically, these individuals have short physical stature (dwarfism), obesity, hypogonadism (in males), protruding forehead and saddle nose, blue sclera, and high-pitched voice (in females). GHR mutations that cause the various anomalies associated with Laron syndrome generally occur within introns, exons, or splice sites. Here, we report for the first time, a combination of a homozygous point mutation (Cys119Phe) and a deletion within exon 3 in a 3-year-old boy from Saudi Arabia who was evaluated as having Laron syndrome. The boy is currently being treated with IGF1 therapy.