Original Articles
Neonatal diabetes mellitus: Chromosomal analysis in transient and permanent cases,☆☆

Presented in part at the European Society for Paediatric Endocrinology (ESPE) in Brussels, September 18, 2000.
https://doi.org/10.1067/mpd.2002.127089Get rights and content

Abstract

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. (J Pediatr 2002;141:483-9)

Section snippets

Recruitment

This was a retrospective multicenter study. Patients were recruited on a voluntary basis through a network of physicians or pediatricians known to be involved in the treatment of diabetes. The physicians were asked to complete a standardized questionnaire for each of their patients who met our inclusion criteria for neonatal diabetes (discussed later). The questionnaire contained items about the family history of diabetes, the pregnancy, birth characteristics, circumstances of the diagnosis of

Incidence of Neonatal Diabetes Mellitus in France

We obtained information on 50 subjects with neonatal diabetes through our survey of the French pediatric clinics and neonatalogy departments. This covers a 30-year period. It can be estimated that there were 22,500,000 births in France during that time frame. Therefore, the incidence can be estimated to be about 1 in 450,000 in France.

Family history of diabetes mellitus

Clinical data were available for 50 patients who had a history of neonatal diabetes mellitus and met our inclusion criteria, 28 females and 22 males. Gender

Discussion

Neonatal diabetes mellitus is a mysterious disease in which the mechanism of insulin deficiency is unknown. It is also unusually difficult to take care of a child of this age with diabetes. Nevertheless the prognosis is totally different in the 2 forms of neonatal diabetes. In TNDM, the disease is not permanent. This study was undertaken to better characterize the clinical features of neonatal diabetes and to see if the 2 forms could be distinguished at onset. We also described the genetic

Acknowledgements

We thank our collaborators in the network “EURONEODIA” dedicated to neonatal diabetes: J. Shield, MD, Department of Child Health, Royal Hospital for Sick Children, Bristol, United Kingdom; K. Temple, MD, Wessex Clinical Genetics Service, Department of Human Genetics, Southampton University, Southampton, United Kingdom; D. Mackay, MD, and D. Robinson, MD, Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, United Kingdom; L. Journot, MD, L. Varrault, MD, and A. Varrault,

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  • Cited by (0)

    Supported by nonprofit association Aide aux Jeunes Diabétiques (AJD) (to B. G. G. and C. M.).

    ☆☆

    Reprint requests: Michel Polak, MD, PhD, Service d'Endocrinologie et Diabétologie Pédiatriques, Unité INSERM 457, Hôpital Robert Debré, 48 boulevard Sérurier, 75019 Paris, France.E-mail: [email protected]

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