Congenital adrenal hyperplasia, or CAH, refers to a group of inherited disorders of the adrenal glands, which are located above the kidneys. The most common form of CAH is called 21 hydroxylase deficiency. People with this disorder do not make enough of the stress hormone called cortisol. Some people also have problems with dehydration. Some girls with this disorder make too much of the male hormone called testosterone. This can make girls' genitals look masculine. Most males with CAH do not have any genital problems. This disorder can be life-threatening. Most girls with CAH identify as female later in life. Fertility is nearly normal in both boys and girls.
The diagnosis is made through laboratory and genetic testing.
Treatment involves life-long replacement of the missing adrenal hormones. Surgery is sometimes required to separate the vagina from the urethra.