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[Transitory neonatal diabetes].

J Carretero Bellón1, J Moralejo Benítez, R Olivé Vilella

  • 1Unidad de Neonatología, Servicio de Pediatría, Hospital Universitario Juan XXIII, Tarragona. jcarr@tinet.fut.es

Anales Espanoles De Pediatria
|March 29, 2001
PubMed
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Transitory neonatal diabetes mellitus, a rare condition, can be effectively managed with NPH insulin. Genetic alterations in affected newborns may influence the long-term outlook for this carbohydrate metabolism disorder.

Area of Science:

  • Endocrinology
  • Genetics
  • Neonatology

Background:

  • Transitory neonatal diabetes mellitus (TNDM) is a rare metabolic disorder typically presenting within the first six months of life.
  • Genetic factors are increasingly recognized as playing a role in the etiology of TNDM.

Observation:

  • A case of an asymptomatic newborn with TNDM is presented, diagnosed on the second day of life with hyperglycemia.
  • The infant exhibited syndactyly and had a family history of diabetes.
  • Initial treatment with regular insulin showed an inconsistent response.

Findings:

  • Treatment with NPH insulin demonstrated a better response, allowing for the gradual cessation of regular insulin.
  • Genetic analysis revealed a duplication on the long arm of chromosome 6 (46 XX, der(6)dup(q22-q23)).

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  • Throughout the treatment period, various hormonal and antibody levels remained within normal ranges, and abdominal echography was unremarkable.

    • Implications:

    • NPH insulin may serve as a viable alternative to regular insulin for managing TNDM.
    • The presence of specific genetic alterations, such as the observed chromosomal duplication, could potentially impact the prognosis and course of TNDM.