LARON DWARFISM-A RARE CAUSE OF SEVERE SHORT STATURE

Arindam Ray, Soumik Goswami, Rahul Valsaraj, Riyas R. S., Nilanjan Sengupta

Abstract


Patients with Growth Hormone Insensitivity have characteristic phenotypic features and severe short stature. The underlying basis is mutations in the growth hormone receptor gene. We present a 12-year-old girl evaluated for short stature (-4.8  SDS ) without Turner stigmata . She has sparse hair, depressed nasal bridge, mid-facial hypoplasia, high pitched voice. Biochemical analyses revealed normal GH levels with low serum insulin-like growth factor-1(IGF-1). IGF1 generation test revealed growth hormone insensitivity. The massive expense incurred in the diagnosis and treatment with suboptimal therapeutic response necessitates a judicious approach in this regard in a resource limited setup.


Keywords


Laron Syndrome, Dwarfism, Micropenis, Growth Hormone Insensitivity, IGF1, IGFBP3, Recombinant Human Growth Hormone, Pituitary Hypoplasia

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References


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