Last update 01 Nov 2024

Lipoid Congenital Adrenal Hyperplasia

Basic Info

Synonyms
20,22-Desmolase deficiency, 20,22-desmolase deficiency, 20,22-desmolase deficiency (diagnosis)
+ [19]
Introduction
Congenital adrenal hyperplasia resulting from the deposition of lipid in the adrenal glands due to a defect of intracellular cholesterol transport or metabolism. The condition is characterized by deficiencies of glucocorticoids, mineralocorticoids, and sex steroids: 46,XY infants are undervirilized, whereas 46,XX infants have no genital manifestations.

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