<unk>  is an uncommon form of CAH resulting from defects in the earliest stages of<unk>  cortisol synthesis: the transport of cholesterol into the mitochondria of the cells of the<unk>  cortex and the conversion to pregnenolone.<unk>  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<unk> s are large and filled with<unk>  globules derived from cholesterol.<unk><unk><unk>  (CAH) refers to any of several autosomal recessive diseases resulting from defects in steps of the synthesis of cortisol from cholesterol by the<unk>  glands. All of the forms of CAH involve excessive or defective production of sex steroids and can pervert 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.
The most common type of CAH is due to deficiency of 21-hydroxylase.<unk>  CAH is one of the less common types of CAH due to deficiencies of other proteins and enzymes involved in cortisol synthesis.
Lipoid congenital adrenal hyperplasia
Congenital adrenal hyperplasia
X-linked adrenal hypoplasia congenita
Kallmann syndrome
Kostmann syndrome
Congenital hyperinsulinism
Multiple endocrine neoplasia type 1
Multiple endocrine neoplasia type 2