Laron dwarfism-a rare cause of severe short stature

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

Volume : VII, Issue : III, March - 2018

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 idge, 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.