Congenital isolated ACTH deficiency

Orpha code: 199296OMIM code: 201400

Definicja

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
Klasyfikacja

Disease

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

No additional description.

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