Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Orpha code: 90794OMIM code: 201910

Definition

A form of congenital adrenal hyperplasia (CAH) characterized by simple virilizing or salt wasting forms that can manifest with abnormal genital development with variable levels of virilization in females and with adrenal insufficiency in both sexes, and that presents with dehydration and hypoglycemia (which can be lethal if left untreated) in the neonatal period, as well as hyperandrogenia.

Disease data
Classification

Disease

Synonyms
Classic 21-OHD CAH
Klasyczny 21-OHD CAH
ORPHA code
90794
OMIM code
201910
ICD10 code
E25.0
ICD11 code
-

No additional description.

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