isolated growth hormone deficiency type IA

An isolated growth hormone deficiency characterized by autosomal recessive inheritance of severe dwarfism with onset by 6 months of age and variable development of antibodies to growth hormone following exogenous supplementation that has_material_basis_in null

An isolated growth hormone deficiency characterized by autosomal recessive inheritance of severe dwarfism with onset by 6 months of age and variable development of antibodies to growth hormone following exogenous supplementation that has_material_basis_in null mutations in the GH1 gene on chromosome 17q23.3.

Signs and symptoms

• Severe short stature
• Persistent open anterior fontanelle
• Decreased circulating insulin-like growth factor 1 concentration
• High forehead
• Hypoglycemia
• Reduced circulating growth hormone concentration
• Growth delay
• Depressed nasal ridge
• Prolonged neonatal jaundice

Also known as: IGHD IA; Illig-type growth hormone deficiency; autosomal recessive isolated growth hormone deficiency; pituitary dwarfism I; primordial dwarfism