Congenital adrenal hyperplasia (CAH) is a disorder that affects the adrenal glands, which are responsible for making important hormones in the body.
When someone has CAH, their adrenal glands don’t produce these hormones correctly, leading to an imbalance. There are different types of CAH, and one of the most severe forms is called CAH, CYP11A1-related, or P450scc deficiency. People with this condition can have varying levels of hormone deficiencies, ranging from a severe form to a milder one.
Classic Form: the severe, classic form occurs when the adrenal glands produce little to no hormones. Babies with this form often experience “salt-wasting crises” in early infancy, where their bodies can’t retain salt, leading to dehydration and other life-threatening problems. These babies might also show signs like weakness, poor feeding, and darker skin (hyperpigmentation). Most affected babies are born with female genitalia, regardless of their biological sex. Unlike other types of CAH, people with the classic form of CAH, CYP11A1-related usually have normal-sized adrenal glands.
Non-Classic Form: the milder, non-classic form happens when the body still produces some hormones. People with this form may not show symptoms until later in life, but they can still experience salt-wasting crises. This form is similar to non-autoimmune Addison’s disease.
There is no cure for CAH, CYP11A1-related, but treatment focuses on managing symptoms. Common treatments include hormone replacement therapy. A team of doctors, including an endocrinologist, will help monitor the patient’s medication, side effects, growth, and development. Some patients may also need surgeries to repair genitalia and other reproductive organs.
CYP11A1-related CAH is caused by pathogenic (disease-causing) variants in the CYP11A1 gene and exhibits autosomal recessive inheritance. This means that both parents must be carriers to have a 25% chance of having a child with the condition. The risk of being a carrier is based on a person’s ancestry or ethnic background.
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Written August 2024
