Two intelligent and cheerful siblings born to a consanguineous parent presented with facial dysmorphism and extreme short stature. They had elevated GH level on repeated sampling in the backdrop of clinical features of GH deficiency or panhypopituitarism. Finally, they were diagnosed of having GH insensitivity syndrome popularly known as Laron syndrome when their IGF-1 and IGFBP-3 level were found to be low. Their condition remained unchanged as recombinant IGF-1 therapy could not be offered.

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12- and 8-Year-Old Siblings with Extreme Short Stature

  • Sharmin Jahan

摘要

Two intelligent and cheerful siblings born to a consanguineous parent presented with facial dysmorphism and extreme short stature. They had elevated GH level on repeated sampling in the backdrop of clinical features of GH deficiency or panhypopituitarism. Finally, they were diagnosed of having GH insensitivity syndrome popularly known as Laron syndrome when their IGF-1 and IGFBP-3 level were found to be low. Their condition remained unchanged as recombinant IGF-1 therapy could not be offered.