ESPE Abstracts (2019) 92 P2-155

First Reported Egyptian Sibs with the Rare Laron Syndrome

Amira Nabil Khalaf


Medical Research Institute, Alexandria, Egypt


Laron's syndrome, or Laron-type dwarfism, is an autosomal recessive disorder characterized by an insensitivity to growth hormone.There are exceptionally low levels of insulin-like growth factor (IGF-1)caused by homozygous or compound heterozygous mutation in the growth hormone receptor gene .It causes severe short stature and can be treated with injections of recombinant IGF-1. Laron syndrome is a rare disorder. About 350 people have been diagnosed with the condition worldwide. The majority of reported cases of Laron syndrome have been in people with Semitic origin.

Here, we are presenting the first reported Egyptian sibs affected with this rare disorder . Two boys born to first cousins, nine and seven years old presenting with abnormally severe short stature (dwarfism), prominent forehead, depressed nasal bridge, underdevelopment of mandible and micropenis . Development and mentality were normal.

Several studies are now investigating the role Cyproheptadine HCl (CyproH) as a treatment for this disorder. CyproH is an appetite-stimulating drug and while it was prescribed for a patient with growth hormone insensitivity syndrome (GHIS) for increasing appetite, his height growth was surprisingly increased. Our patients are now on CyproH treatment ; 0.25 mg/kg/24 hours as an alternative to recombinant IGF-1 which is very expensive, and interestingly, a marked increase in height is noticed.

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