Lipoid congenital adrenal hyperplasia
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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.[citation needed]
Lipoid congenital adrenal hyperplasia | |
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Other names | Congenital lipoid adrenal hyperplasia due to StAR deficency[1] |
Lipoid congenital adrenal hyperplasia is inherited in an autosomal recessive manner |