Categories: Disorders of unusual phenotypes



Inclusion criteria: Developmental disorder phenotype (e.g. CNS, renal or cardiac) AND Diagnosis of diabetes <25 years AND Not insulin dependent (>=3 without insulin treatment) AND Non-obese (BMI <30) Exclusion criteria: One or more pancreatic autoantibodies (GAD, IA2, ICA) positive (titre >99th population centile) Prior genetic testing guidance Results should have […]

Diabetes with additional phenotypes suggestive of a monogenic aetiology


 Inclusion criteria: Diagnosis of diabetes <25 years AND Not insulin dependent (?3 years without insulin treatment) AND Non-obese (BMI <30) AND Acanthosis nigricans AND Biochemical confirmation of severe insulin  Exclusion criteria: One or more pancreatic autoantibodies (GAD, IA2, ICA) positive (titre >99th population centile) Prior genetic testing guidance  Results should […]

Insulin resistance (including lipodystrophy)



 Inclusion criteria Diabetes AND >=2 autoimmune disorders with >=2 of these diagnosed <10 years.  Exclusion criteria Prior genetic testing guidance Results should have been reviewed for all genetic tests undertaken, including disease-relevant genes in exome sequencing data. The patient is not eligible if they have a molecular diagnosis for their […]

Multi-organ autoimmune diabetes


 Inclusion criteria Hypoglycaemia onset before 12 years of age Drug-treated for >=3 months or pancreatectomy Intravenous glucose infusion rate required to maintain normoglycaemia >8mg/kg/min Detectable serum insulin or C-Peptide when blood glucose is less than 3mmol/L  Exclusion criteria Hypoglycaemia in the neonatal period which resolved without treatment Hypoglycaemia in the […]

Hyperinsulinism