Congenital Adrenal Hyperplasia (CAH) medical risks

Congenital Adrenal Hyperplasia (CAH) is the only one of all the various causes of intersex that can actually cause a medical emergency. In fact, before CAH was well understood, it was thought to occur much more frequently in girls. Now we know that this really reflects the fact that newborn girls with genital ambiguity often came quickly to medical attention, whereas CAH boys (who don’t have an intersex appearance) often died without being diagnosed. CAH occurs equally often in XX and XY individuals.

People with CAH (both XY individuals, who are not intersexed, and XX individuals, who may be intersexed) have problems making their own cortisone, a hormone which helps the body respond to stress (like a cold, or a broken bone, or severe trauma in a bad automobile accident, or undergoing surgery). This problem can be addressed by administering cortisone, but only if medical professionals know that the person has CAH. For this reason, some CAH people wear Medic Alert bracelets.

Another problem that can happen is called “Salt wasting.” Some people with CAH (whether intersexed or not) don’t produce the right levels of hormones that control salt in the body. These people can get very sick, and even die, without medication to correct their body’s salt level. Many people with “salt wasting” CAH also say that they crave salt, and feel better when they eat very salty food.

Any child who has XX chromosomes and CAH, and is raised as a boy may experience feminizing puberty and menstruation. We believe that in such a case, the child deserves a clear explanation of his own medical condition, and a choice about medical interventions. A mental health specialist, working with the child and the parents, should determine the child’s gender identity. If the child’s identity is female, she may wish to have psychosocial support to change her social sex to female. She may also wish cosmetic genital surgery to make her genitals look more female. If the child’s gender identity is male, he may wish to prevent menstruation from occurring.

If it is difficult to determine the child’s gender identity or wishes, puberty can be temporarily delayed with the drug Lupron. This is not a permanent solution, but a delaying tactic. If the child’s gender identity is male, he may choose to have his ovaries removed to prevent further feminization. As reproductive technology advances, consideration should be given to preserving gonadal tissue for future assisted fertility.