Congenital isolated ACTH deficiency

Orpha code: 199296OMIM code: 201400

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.

Disease data
Classification

Disease

ORPHA code
199296
OMIM code
201400
ICD10 code
E23.6
ICD11 code
5A74.Y

No additional description.

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