C131426Level 10
Congenital Lipoid Adrenal Hyperplasia
**Semantic type:** Disease or Syndrome
**Definition:** 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.
**Synonyms:** - CLAH
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