Neonatal and early-onset diabetes in Ukraine: Atypical features and mortality

Area of Science:

• Pediatric Endocrinology
• Medical Genetics
• Neonatology

Background:

• Neonatal and early-onset diabetes are rare conditions with diverse genetic causes.
• Accurate diagnosis is crucial for appropriate management and understanding prognosis.
• Genetic testing has become increasingly important in identifying specific subtypes of pediatric diabetes.

Purpose of the Study:

• To investigate the genetic aetiology and clinical characteristics of neonatal and early-onset diabetes in Ukrainian children.
• To identify the prevalence of different genetic subtypes in this cohort.
• To assess the mortality rate associated with these conditions.

Main Methods:

• Established a Pediatric Diabetes Register for patients diagnosed before 9 months of age.
• Conducted genetic testing on 66 patients from 65 families with diabetes diagnosed within the first 9 months of life.
• Classified patients into neonatal diabetes (diagnosed before 6 months) and early-onset diabetes (diagnosed between 6-9 months).

Main Results:

• Determined genetic aetiology in 86.1% of neonatal diabetes and 20% of early-onset diabetes cases.
• Identified common variants in ABCC8, KCNJ11, INS, GCK, and 6q24 transient neonatal diabetes.
• Discovered rare genetic subtypes in 24.3% of solved cases, with a high mortality rate (6/9) among these.
• Observed that all eight childhood deaths occurred in patients diagnosed before 6 months with a genetic diagnosis.

Conclusions:

• Comprehensive genetic testing has improved the recognition of rare genetic diabetes subtypes in pediatric populations.
• A significant proportion of neonatal diabetes cases have identifiable genetic causes.
• Rare genetic subtypes of neonatal diabetes are associated with a high mortality rate, highlighting the need for early diagnosis and specialized care.