Congenital isolated ACTH deficiency

What is Congenital isolated ACTH deficiency?

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 type

Autosomal recessive

Age of Onset

  • Neonatal
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