Congenital Adrenal Hyperplasia

Congenital adrenal hyperplasia is a group of genetically inherited diseases that affects the ability of the adrenal gland to function properly. In most cases, they limit the ability of the adrenal glands to produce adequate amount of cortisol, a hormone that regulates the blood pressure, blood sugar and protects your body against stress. They may also affect the production of aldosterone and androgens, which are steroid hormones and involved in the maintenance of blood pressure and male sex hormones respectively.

Congenital adrenal hyperplasia can occur in both men and women. They also deter growth and development in children, including normal development of the genitals.

In congenital adrenal hyperplasia, one of the many enzymes vital for the production of hormones secreted by the adrenal glands are missing or lacking in quantity. These hormones include cortisol, aldosterone and androgens. Children with either both parents having congenital adrenal hyperplasia or both parents being carriers of the genetic defect are at a higher risk of getting this disease. Congenital adrenal hyperplasia can be divided into two categories:

• Classic congenital adrenal hyperplasia which is a more severe form of the disease. It is usually detected in infancy or early childhood.

• Non classic congenital adrenal hyperplasia which is a milder form of the disease. It is usually detected in late childhood or early adulthood.

When to seek expert advise

You can contact a paediatrician working with the Children’s Hospital Service Line or one of our doctors at the Internal Medicine Service Line at the Aga Khan University Hospital, Karachi, the only internationally accredited hospital in Pakistan, for expert opinion if you or a family member are exhibiting the aforementioned symptoms.​​