Rare Medical News
Advertisement
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
Inadequately treated patients may develop progressive penile or clitoral enlargement, premature adrenarche, precocious puberty, and rapid linear growth
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
Advertisement