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lipoid congenital adrenal hyperplasia
Lipoid congenital adrenal hyperplasia is an endocrine disorder that is an uncommon and potentially lethal form of congenital adrenal hyperplasia (CAH). It arises from defects in the earliest stages of steroid hormone synthesis: the transport of cholesterol into the mitochondria and the conversion of cholesterol to pregnenolone—the first step in the synthesis of all steroid hormones. Lipoid CAH causes mineralocorticoid deficiency in affected infants and children. Male infants are severely undervirilized causing their external genitalia to look feminine. The adrenals are large and filled with lipid globules derived from cholesterol.
==Introduction==
Congenital adrenal hyperplasias are a family of autosomal recessive diseases resulting from defects in steps of the synthesis of steroid hormones from cholesterol. All forms of CAH involve excessive or defective production of sex steroids and can prevent or impair development of primary or secondary sex characteristics in affected infants, children, and adults. Many also involve excessive or defective production of mineralocorticoids, which can cause hypertension or salt-wasting.
Lipoid CAH is one of the rarer forms of CAH and results from defects in the steps from cholesterol to pregnenolone. This results in the catastrophic loss of most or all steroid hormones in the body. It is caused by mutations in either of two proteins: cytochrome P450scc and steroidogenic acute regulatory protein (StAR).
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