描述
Congenital lipoid adrenal hyperplasia (CLAH; Steroid 20-22 desmolase deficiency; lipoid CAH) is caused by a defect in the CYP11A1 gene which codes for mitochondrial cholesterol side-chain cleavage enzyme. Cholesterol side-chain cleavage enzyme convertes cholesterol to pregnenolone in adrenal cortisol synthesis of all steroid hormones. A defect in this enzyme results in in impaired synthesis of all three categories of adrenal steroids (cortisol, mineralocorticoids, sex steroids) and high levels of adrenocorticotropic hormone (ACTH). Symptoms include poor feeding, vomiting, dehydration, hypotension, hyponatremia, hyperkalemia, hypoglycemia, hyperpigmentation. Sex steroid deficiency can result in ambiguous genitalia. Patients need the mineral replacement and extra glucocorticoid. XX female patients can use estrogen replacement at or after puberty. For XY patients, the testes are uniformly nonfunctional and they are undescended, are removed when the diagnosis is made due to the risk of cancer development in these tissues.