Case report reveals growth hormone insensitivity leading to short stature in a child, indicating the need for clinical awareness.
Laron syndrome or growth hormone insensitivity (GHI) is a rare genetic disease inherited in an autosomal recessive manner. A 6 ½ year-old-female child was bought to Paediatric OPD for short stature which was noticed by parents since 3 years of age. Child is first born to second degree consanguineous married couple with no significant birth history, and family history of short stature. Child presented with weight of 10 kg (<3rd centile), height of 90 cm (<3rd centile). Growth Hormone (GH) stimulation test done with tablet Clonidine revealed high GH levels suggestive of partial/total resistance. IGF-1 generation test was done which also showed low IGF-1 levels supporting the diagnosis of GH insensitivity or Laron Syndrome. A high index of clinical suspicion is required for the diagnosis of LS or GH insensitivity in a child with severe short stature having high serum GH levels but low levels of IGF-1 and IGF- BP3.
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