Lipoid congenital adrenal hyperplasia.
Lipoid congenital adrenal hyperplasia is an uncommon form of CAH resulting from defects in the earliest stages of adrenal cortisol synthesis: the transport of cholesterol into the mitochondria of the cells of the adrenal cortex and the conversion to pregnenolone. Lipoid CAH causes mineralocorticoid deficiency in all affected infants and children. XY infants (genetic males) are severely undervirilized and are usually assigned and raised as girls. The adrenals are large and filled with lipid globules derived from cholesterol.
What is CAH?
Congenital adrenal hyperplasia (CAH) refers to any of several autosomal recessive diseases resulting from defects in steps of the synthesis of cortisol from cholesterol by the adrenal glands. All of the forms of CAH involve excessive or defective production of sex steroids and can pervert or impair development ofprimary 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.
The term congenital adrenal hyperplasia (CAH) encompasses a group of autosomal recessive disorders, each of which involves a deficiency of an enzyme involved in the synthesis of cortisol,[ aldosterone, or both. Deficiency of 21-hydroxylase, resulting from mutations or deletions of CYP21A, is the most common form of CAH, accounting for more than 90% of cases.
The most common type of CAH is due to deficiency of 21-hydroxylase. Lipoid CAH is one of the less common types of CAH due to deficiencies of other proteins and enzymes involved in cortisol synthesis.