Transient neonatal diabetes mellitus in an infant with paternal uniparental disomy of chromosome 6 including heterodisomy for 6q24

J Pediatr Endocrinol Metab. 2006 Nov;19(11):1353-7. doi: 10.1515/jpem.2006.19.11.1353.

Abstract

We describe a female infant who developed transient neonatal diabetes mellitus (TNDM) (MIM 601410). At birth she presented with growth retardation and macroglossia. Diabetes was diagnosed on the fourth day of life and it resolved after two months of insulin therapy. Genetic testing revealed the presence of paternal uniparental disomy of chromosome 6 (UPD6) including heterodisomy of 6q24. This is the first documented case of uniparental heterodisomy for chromosome 6.

Publication types

  • Case Reports

MeSH terms

  • Chromosomes, Human, Pair 6*
  • Diabetes Complications / complications
  • Diabetes Mellitus / diagnosis
  • Diabetes Mellitus / drug therapy
  • Diabetes Mellitus / genetics*
  • Female
  • Fetal Growth Retardation / etiology
  • Humans
  • Hyperglycemia / etiology
  • Hypoglycemic Agents / therapeutic use
  • Infant, Newborn
  • Insulin / therapeutic use
  • Macroglossia / etiology
  • Polymorphism, Genetic
  • Treatment Outcome
  • Uniparental Disomy / diagnosis
  • Uniparental Disomy / genetics*

Substances

  • Hypoglycemic Agents
  • Insulin