Congenital Adrenal Hyperplasia

Congenital adrenal hyperplasia, or CAH, refers to a group of inherited disorders of the adrenal glands, which are located above the kidneys. The adrenal glands produce 3 hormones: (1) Cortisol, which is a stress hormone (2) Aldosterone, which controls salt and water balance and (3) Androgens, which control male sex development.  During development, these hormones should all be produced in balance and if there is too much or too little of one, this can throw off the balance such that another one of the hormones is produced in too little or too much quantity.  

The most common form of CAH is called 21 hydroxylase deficiency. This disorder can be life-threatening. People with this disorder do not make enough of the stress hormone cortisol. In some cases, they also cannot produce aldosterone and so may also have problems with dehydration. As a result of the above imbalances in too little hormone being produced, some girls with this disorder overproduce testosterone. This can make girls' genitals appear masculine. 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. In fact, all infants born in the United States are screened for CAH through a blood test.

At Children’s Mercy Kansas City, our multidisciplinary team of experts will work with your family to develop an individualized treatment plan to manage your child’s condition. Treatment usually involves life-long replacement of the missing adrenal hormones, which are generally given in pill form taken by mouth, once or twice a day. Surgery is sometimes required to address the masculinized external genitalia and in more severe cases, separate the vagina from the urethra.