title: Neonatal diabetes mellitus: chromosomal analysis in transient and permanent cases.
abstract: OBJECTIVE
  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.
  
  
  METHODS
  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.
  
  
  CONCLUSIONS
  When present, a chromosome 6 abnormality is strongly in favor of the "transient" form of the disease.
authors.affiliation: Department of Pediatrics, Hôpital Morvan, Brest.
authors.forename: Chantal
authors.initials: C
authors.lastname: Metz
authors.forename: Hélène
authors.initials: H
authors.lastname: Cavé
authors.forename: Anne Marie
authors.initials: AM
authors.lastname: Bertrand
authors.forename: Christine
authors.initials: C
authors.lastname: Deffert
authors.forename: Béatrice
authors.initials: B
authors.lastname: Gueguen-Giroux
authors.forename: Paul
authors.initials: P
authors.lastname: Czernichow
authors.forename: Michel
authors.initials: M
authors.lastname: Polak
mesh_terms: D001724:Birth Weight; D001786:Blood Glucose / Q000378:metabolism; D002869:Chromosome Aberrations; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics; D015331:Cohort Studies; D003920:Diabetes Mellitus / Q000151:congenital* / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*; D005192:Family Health; D005260:Female; D005500:Follow-Up Studies; D005602:France; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005838:Genotype; D005865:Gestational Age; D006801:Humans; D007004:Hypoglycemic Agents / Q000627:therapeutic use; D007223:Infant; D007229:Infant Welfare; D007231:Infant, Newborn; D007328:Insulin / Q000097:blood / Q000627:therapeutic use; D008297:Male; D012189:Retrospective Studies; D013997:Time Factors; D016896:Treatment Outcome
chemical_list: D001786:Blood Glucose; D007004:Hypoglycemic Agents; D007328:Insulin