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Neonatal and Syndromic Forms of Diabetes

McKinlee R S Gobble1, Stephen I Stone2

  • 1Department of Pediatrics, Division of Endocrinology and Diabetes, Washington University School of Medicine, St. Louis, MO, 63110, U.S.A.

Current Diabetes Reports
|March 25, 2025
PubMed

Insights

Neonatal and syndromic diabetes are rare conditions causing severe insulin issues. This review covers their clinical features and genetic basis, aiding researchers and clinicians.

Area of Science:

  • Endocrinology
  • Genetics
  • Developmental Biology

Background:

  • Neonatal and syndromic diabetes are rare but critical conditions.
  • These disorders lead to severe insulin deficiency or resistance in infants.
  • They impact multiple organ systems beyond glucose metabolism.

Purpose of the Study:

  • To review the clinical characteristics of neonatal and syndromic diabetes.
  • To discuss the genetic underpinnings of these rare diabetes forms.
  • To provide an updated resource for clinicians and researchers.

Main Methods:

  • Literature review of clinical and genetic studies.
  • Synthesis of current knowledge on pathophysiology.
  • Analysis of diagnostic and management approaches.

Main Results:

  • Detailed description of clinical phenotypes.
  • Identification of key genetic mutations and pathways.
  • Elucidation of the impact on various organ systems.
  • Improved understanding of glucose metabolism and developmental biology.

Conclusions:

  • Neonatal and syndromic diabetes require specialized evaluation.
  • Genetic insights are crucial for diagnosis and management.
  • Further research can enhance understanding and treatment strategies.
Abstract

Keywords:
DiabetesGeneticsNeonatal diabetesSyndromic diabetes

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