Neonatal diabetes mellitus: chromosomal analysis in transient and permanent cases

J Pediatr. 2002 Oct;141(4):483-9. doi: 10.1067/mpd.2002.127089.


Objectives: To describe a large cohort of patients with transient neonatal diabetes mellitus (TNDM) and permanent neonatal diabetes mellitus (PNDM), and to investigate whether chromosome 6 analysis helps to distinguish TNDM from PNDM.

Study design: Patients with TNDM (n = 29) (insulin therapy for <3 years) and 21 with PNDM were identified through a nationwide study.

Results: Although patients with PNDM were less likely to have had intrauterine growth restriction (36% vs 74% for TNDM, P <.006), were older at diagnosis (median: 27 vs 6 days, P <.01), and had higher initial insulin requirements (1.4 U/kg/day vs 0.6 U/kg/day, P <.006), no clinical features were reliable in distinguishing PNDM from TNDM on an individual case basis. Permanent insulin-dependent diabetes developed in 5 TNDM patients after 8 years of age, emphasizing the need for prolonged follow-up. Among the 19 TNDM patients tested, two had paternal isodisomy of chromosome 6, seven from 4 families had paternally-derived trisomy of the 6q region, and two had a methylation defect in the 6q24 region. No chromosome 6 anomalies were found in the 9 PNDM patients tested.

Conclusion: When present, a chromosome 6 abnormality is strongly in favor of the "transient" form of the disease.

Publication types

  • Case Reports
  • Clinical Trial
  • Comparative Study
  • Multicenter Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Birth Weight
  • Blood Glucose / metabolism
  • Chromosome Aberrations
  • Chromosomes, Human, Pair 6 / genetics
  • Cohort Studies
  • Diabetes Mellitus / congenital*
  • Diabetes Mellitus / diagnosis
  • Diabetes Mellitus / drug therapy
  • Diabetes Mellitus / genetics*
  • Family Health
  • Female
  • Follow-Up Studies
  • France
  • Genetic Predisposition to Disease / genetics
  • Genotype
  • Gestational Age
  • Humans
  • Hypoglycemic Agents / therapeutic use
  • Infant
  • Infant Welfare
  • Infant, Newborn
  • Insulin / blood
  • Insulin / therapeutic use
  • Male
  • Retrospective Studies
  • Time Factors
  • Treatment Outcome


  • Blood Glucose
  • Hypoglycemic Agents
  • Insulin