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5 Facts you should know about

Congenital adrenal hyperplasia (CAH)

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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

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