ransient neonatal diabetes mellitus (TNDM) is a rare genetic form of diabetes,1 resolving in infancy but often relapsing in adolescence or adulthood. The most common genetic cause is paternal uniparental disomy of chromosome 6 (UPD6).2 TNDM typically remits within the first year but may recur later. 3 The pathogenesis involves overexpres- sion of PLAGL1, leading to impaired β-cell development and function, ultimately reducing insulin secretion. Additionally, functional β-cell mass may be diminished or less responsive to glucose stimulation. Insulin and sulfonylureas are standard treatments but may cause hypoglycaemia and glycaemic variability. We describe the efficacy and safety of liraglutide, a GLP-1 receptor agonist, in a young woman with relapsed 6q24-related TNDM

GLP ‐1 receptor agonist therapy for relapsed diabetes following 6q24‐related transient neonatal diabetes due to paternal uniparental disomy: A case report

Tura, Andrea;
2025

Abstract

ransient neonatal diabetes mellitus (TNDM) is a rare genetic form of diabetes,1 resolving in infancy but often relapsing in adolescence or adulthood. The most common genetic cause is paternal uniparental disomy of chromosome 6 (UPD6).2 TNDM typically remits within the first year but may recur later. 3 The pathogenesis involves overexpres- sion of PLAGL1, leading to impaired β-cell development and function, ultimately reducing insulin secretion. Additionally, functional β-cell mass may be diminished or less responsive to glucose stimulation. Insulin and sulfonylureas are standard treatments but may cause hypoglycaemia and glycaemic variability. We describe the efficacy and safety of liraglutide, a GLP-1 receptor agonist, in a young woman with relapsed 6q24-related TNDM
2025
Istituto di Neuroscienze - IN - Sede Secondaria Padova
continuous glucose monitoring
liraglutide
mixed meal tolerance test
paternal disomy
transient neonatal diabetes
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/20.500.14243/565001
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