Hyperinsulinaemic hypoglycaemia: A new presentation of 16p11.2 deletion syndrome

Clin Endocrinol (Oxf). 2019 May;90(5):766-769. doi: 10.1111/cen.13951. Epub 2019 Mar 7.
No abstract available

Keywords: 16p11.2 deletion syndrome; Diazoxide; hyperinsulinaemic hypoglycaemia; hypoketotic; phenotype.

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Autistic Disorder*
  • Chromosome Deletion*
  • Chromosome Disorders*
  • Chromosomes, Human, Pair 16
  • Congenital Hyperinsulinism* / drug therapy
  • Congenital Hyperinsulinism* / genetics
  • Congenital Hyperinsulinism* / physiopathology
  • Diazoxide / pharmacology
  • Humans
  • Infant
  • Infant, Newborn
  • Intellectual Disability*
  • Male
  • Phenotype
  • Vasodilator Agents / pharmacology

Substances

  • Vasodilator Agents
  • Diazoxide

Supplementary concepts

  • 16p11.2 Deletion Syndrome