Congenital isolated ACTH deficiency
ORPHA:199296· ICD-10 E23.6
Definition
A rare endocrine disease characterized by neonatal hypoglycemia, prolonged cholestatic jaundice, and seizures. Typical are low plasma ACTH and cortisol levels in the absence of structural pituitary defects, and sometimes low partial growth hormone deficiency is associated.
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal