Introduction
Congenital adrenal hyperplasias are a family of autosomal recessive diseases resulting from defects in steps of the synthesis of cortisol from cholesterol by the adrenal gland. 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).
Read more about this topic: Lipoid Congenital Adrenal Hyperplasia
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