neonatal diabetes mellitus with congenital hypothyroidism

A neonatal diabetes that is characterized by intrauterine growth retardation, hypothyroidism and onset of nonimmune diabetes mellitus within the first few weeks of life, and that has_material_basis_in homozygous or compound heterozygous mutations in the GLIS3

A neonatal diabetes that is characterized by intrauterine growth retardation, hypothyroidism and onset of nonimmune diabetes mellitus within the first few weeks of life, and that has_material_basis_in homozygous or compound heterozygous mutations in the GLIS3 gene on chromosome 9p24.

Signs and symptoms

• Elevated circulating thyroglobulin concentration
• Decreased circulating T4 concentration
• Diabetes mellitus
• Congenital hypothyroidism
• Elevated circulating thyroid-stimulating hormone concentration
• Intrauterine growth retardation
• Buphthalmos
• Portal hypertension
• Epicanthus
• Cholestasis

Also known as: NDH syndrome