Rare Medical News
5 Facts you should know about
Congenital adrenal hyperplasia (CAH)
1
Approximately 95% of CAH cases are caused by a mutation that leads to a deficiency of the enzyme 21-hydroxylase.
2
Deficiency of 21-hydroxylase leads to an inability of the adrenal glands to produce cortisol and, in approximately 75% of patients, aldosterone.
3
CAH patients may experience problems with growth and development in childhood, including early puberty, short stature or height, and fertility problems.
4
Inheritance of CAH is an autosomal recessive.
5
The two main types of CAH are classic and non-classic - classic is diagnosed at birth, and non-classic is typically diagnosed during adolescence.
Rare Medical News