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Published on: November 16, 2011
Hyperinsulinemic Hypoglycaemia in a Turner Syndrome with Ring (X)
Michela Cappella1, Vanna Graziani1, Antonella Pragliola2
1Department of Paediatrics, Santa Maria delle Croci Hospital, 48121 Ravenna, Italy.
Abstract:
Hyperinsulinemic hypoglycaemia (HH) is a group of clinically, genetically, and morphologically heterogeneous disorders characterized by dysregulation of insulin secretion by pancreatic beta cells. HH can either be congenital genetic hyperinsulinism or associated with metabolic disorder and syndromic condition. Early identification and meticulous management of these patients is vital to prevent neurological insult. There are only three reported cases of HH associated with a mosaic, r(X) Turner syndrome. We report the four cases of an infant with a mosaic r(X) Turner genotype and HH responsive to diazoxide therapy.
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