Users Online: 137
Home Print this page Email this page Small font size Default font size Increase font size
Home About us Editorial board Search Ahead of print Current issue Archives Submit article Instructions Subscribe Contacts Login 
Year : 2019  |  Volume : 4  |  Issue : 2  |  Page : 83-88

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

Department of Pediatrics, College of Medicine, Al-Imam Mohammad Ibn Saud Islamic University, Riyadh, Saudi Arabia

Correspondence Address:
Dr. Mosleh Jabari
Department of Pediatrics, College of Medicine, Al-Imam Mohammad Ibn Saud Islamic University, Riyadh
Saudi Arabia
Login to access the Email id

Source of Support: None, Conflict of Interest: None

DOI: 10.4103/ijas.ijas_5_19

Rights and Permissions

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.

Print this article     Email this article
 Next article
 Previous article
 Table of Contents

 Similar in PUBMED
   Search Pubmed for
   Search in Google Scholar for
 Related articles
 Citation Manager
 Access Statistics
 Reader Comments
 Email Alert *
 Add to My List *
 * Requires registration (Free)

 Article Access Statistics
    PDF Downloaded190    
    Comments [Add]    

Recommend this journal