Вроджений ізольований дефіцит АКТГ
ORPHA:199296· ICD-10 E23.6· Congenital isolated ACTH deficiency
Визначення(English summary)
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.
- Успадкування
- Autosomal recessive
- Вік початку
- Neonatal