Diabetes mellitus, at its core, is a problem of insulin deficiency. Many aetiologies, from genetic, to autoimmune, to drugs and infections, can cause this underlying insulin deficiency.

Genetic defects of beta cell function

  • MODY1 Chromosone 20, HNF-4alpha
  • MODY2 Chromosome 7, glucokinase
  • MODY3 Chromosome12, HNF-1alpha
  • MODY4 Chromosome 13, IPF-1
  • MODY5 Chromosome 17, HNF-1beta
  • MODY6 Chromosome 2 NeuroD1
  • Mitochondrial DNA
  • Neonatal diabetes (i.e. Kir6.2 mutation)

Genetic defects in insulin action

  • Leprechaunism
  • Lipoatrophic diabetes
  • Rabson-Mendenhall syndrome
  • Type A insulin resistance

Diseases of the pancreas

  • Cystic fibrosis
  • Fibrocalculous pancreatopathy
  • Hemochromatosis
  • Neoplasia
  • Pancreatitis
  • Trauma
  • Pancreatectomy

Endocrinopathies

  • Acromegaly
  • Aldosteronoma
  • Cushing syndrome
  • Glucagonoma
  • Hyperthyroidism
  • Pheochromocytoma
  • Somatostatinoma

Infections

  • Congenital rubella
  • CMV

Uncommon immune-mediated diabetes

  • Anti-insulin receptor antibodies
  • “Stiff-man” syndrome

Drugs or chemicals

  • Atypical antipsychotics
  • Beta-adrenergic agonists
  • Cyclosporine
  • Diazoxide
  • Glucocorticoids
  • Interferon alfa
  • Nicotinic acid
  • Pentamidine
  • Phenytoin
  • Protease inhibitors
  • Thiazide diuretics
  • Thyroid hormone

Genetic syndromes associated with diabetes

  • Down syndrome
  • Friedreich ataxia
  • Huntington chorea
  • Klinefelter syndrome
  • Laurence-Moon-Bardet-Biedl syndrome
  • Myotonic dystrophy
  • Porphyria
  • Prader-Willi syndrome
  • Turner syndrome
  • Wolfram syndrome