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Congenital isolated hyperinsulinism

Disease definition

A rare endocrine disease characterized by an excessive or uncontrolled insulin secretion and recurrent episodes of hypoglycemia that can result in neurological sequelae if left untreated. There are two forms according to the response to first line treatment: diazoxide-sensitive and diazoxide-resistant hyperinsulinism; and three histopathological forms: focal, diffuse and atypical forms. Focal forms are only observed in early-onset cases of diazoxide unresponsive patients.

ORPHA:657

Classification level: Group of disorders
  • Synonym(s):
    • PHHI
    • Persistent hyperinsulinemic hypoglycemia of infancy
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant or Autosomal recessive 
  • Age of onset: Childhood, Neonatal, Infancy
  • ICD-10: E16.1
  • OMIM: -
  • UMLS: C0027773  C1257959  C3888018
  • MeSH: D044903
  • GARD: 3947
  • MedDRA: -

Detailed information

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