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Article

Low-level hyperinsulinism with hypoglycemic spells in an infant with mosaic Turner syndrome and mild Kabuki-like phenotype: a case report and review of the literature.

Journal of pediatric endocrinology & metabolism : JPEM - 1 Jan 2014

Pietzner Vera, Weigel Johannes F W, Wand Dorothea, Merkenschlager Andreas, Bernhard Matthias K

Abstract excerpt

BACKGROUND: Impaired glucose tolerance and type 2 diabetes are well-known features in patients with Turner syndrome. To the best of our knowledge, there is only one reported case of hyperinsulinemic hypoglycemia associated with a complex mosaic Turner syndrome available in the current literature. PATIENT: We report on the case of a 13-month-old girl with a complex mosaic Turner genotype and mild hyperinsulinemic...

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Identifiers

PMID: 23950569
DOI: 10.1515/jpem-2013-0090

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