Interdisciplinary care in disorders/differences of sex development (DSD): The psychosocial component of the DSD—Translational research network / What is congenital adrenal hyperplasia (CAH), and is it a DSD?

The adrenal glands are hormone-producing glands that both males and females have. They are located in the back of our bodies, above our kidneys. The adrenals are important in part because they help our bodies respond to stress.

Congenital adrenal hyperplasia (CAH) is an inborn condition in which a person’s adrenal glands don’t work normally. People with CAH are missing an enzyme that is needed for the adrenals to do their job. Some forms of CAH are very serious and require intense medical management. Some are less severe but still require monitoring. Most states now require newborn screening for CAH because CAH can be a very dangerous disease.

The adrenal glands make androgens, which are sometimes called “masculinizing hormones.” The adrenal glands are not the only organs that make androgens; for example, the testes also make testosterone, which is a type of androgen. High levels of androgens usually lead to male-typical development in the womb, while low levels usually lead to female-typical development.

If a female (46,XX) fetus has a certain form of CAH, the CAH may cause her to develop along a more male-typical pathway. She may be born with genitals that are a little bit – or very much – “masculinized.” Her clitoris may be large, her labia may be joined more like a scrotum, and her vagina may not be fully formed, or may be joined with her urethra. The sex development of (46,XY) fetuses is not affected by CAH.

So is CAH a DSD? Recall that DSD are defined by the medical community as “congenital conditions in which development of chromosomal, gonadal or anatomic sex is atypical.” Because CAH does not always result in the development of atypical anatomic sex, CAH is not a DSD. But CAH can, in the case of some females, involve a DSD.

The types of CAH include 21-hydroxylase deficiency, 3-beta-hydroxysteroid dehydrogenase deficiency, and 17-beta-hydroxysteroid dehydrogenase deficiency.

There are some forms of CAH that are “late onset,” meaning they do not develop to be noticeable until during puberty or later.

The main support group for the metabolic disease aspects of CAH is the CARES Foundation. Click here to visit their website.

The main support group for the DSD aspects of CAH is the AIS-DSD Support Group. Click here to visit their website.