Congenital Adrenal Hyperplasia in a nut shell...
Congenital adrenal hyperplasia (CAH) is a disorder of the adrenal glands which is inherited from both parents. The adrenal glands are a portion of the body’s endocrine system and produce hormones for the body. Hormones are considered chemical messengers because they deliver important messages from the brain to cells of your body. With CAH, the adrenal glands are unable to produce important hormones of the body. These hormones are cortisol and aldosterone. Since the adrenal glands are unable to produce these hormones, the glands work in over drive and produce excess androgens. This imbalance of hormones can result in serious illness and growth issues (Hsu & Rivkees, 2005).
CAH is considered a rare disorder. There are about 1 in 18 000 babies diagnosed with salt-wasting CAH, which is the most severe form of the disorder Hindmarsh & Geertsma (2017). This means that in Saskatchewan, there is only about 1 new diagnosis per year. Once parents find out that they are carriers of the CAH, the chance of future children having CAH goes from 1 in 18 000 to 1 in 4 (Hindmarsh & Geertsma, 2017).
Cortisol is the hormone responsible for maintaining general health and overall well-being. Often times, cortisol is considered the “stress” hormone. Without cortisol, the body struggles to deal with various types of physical stress. This includes the stress of illness, infections, surgery and trauma. If proper precautions are not taken, incidences like these can lead to shock or sudden death (Hsu & Rivkees, 2005).
Cortisol also helps the body to maintain normal blood sugar levels. When cortisol is low or unmeasurable, blood sugar also drops, causing hypoglycemia. Cortisol also helps to maintain an adequate blood pressure (Hsu & Rivkees, 2005).
Aldosterone is the hormone that maintains proper balance of sodium and potassium in the body. Without aldosterone, the body rids itself of sodium, causing potassium to reach fatal levels. These electrolytes maintain proper blood pressure and circulation (Hsu & Rivkees, 2005).
Androgens are considered male sex hormones. Since the adrenal glands are unable to produce cortisol and aldosterone, they work extra hard to produce androgens. Excess androgens in the body can results in rapid physical development and growth. Early puberty is a sign of excess androgens in the body. Another effect on the body of excess androgens is the early calcification of skeletal bones causing short stature (Hsu & Rivkees, 2005).
CAH can be treated with oral medications being provided various times throughout the day to mimic natural hormone production. This is done by providing oral steroids in the form of 2 different medications (Hsu & Rivkees, 2005).
If there is not enough steroid provided, an adrenal crisis can occur. An adrenal crisis is a life threatening medical emergency that occurs during episodes of injury or illness if extra medication is not provided. This extra medication is known as a “stress dose”. A stress dose can be given by mouth or by emergency injection. During an adrenal crisis, electrolyte imbalances, poor circulation and low blood sugar can occur, causing an individual to go into shock. It is important to recognize signs of requiring extra cortisol to prevent this from happening (Hsu & Rivkees, 2005).
References
Hindmarsh, P., & Geertsma, K. (2017). Congenital adrenal hyperplasia: A comprehensive guide. San Diego, California: Elsevier.
Hsu, C., & Rivkees, S. A. (2005). Congenital adrenal hyperplasia: A parents' guide. Bloomington, Indiana: AuthorHouse.