The adrenal glands are an important part of the endocrine system. One important hormone that they make, cortisol, has profound effects on the body's metabolism, bone density and its ability to heal. Patients with congenital adrenal hyperplasia have a genetic defect that causes cortisol to not be made in sufficient quantities.
Pathology
Congenital adrenal hyperplasia, Medline Plus explains, describes a series of related genetic disorders that involve the adrenal gland. Patients with these conditions have a genetic mutation that causes them to lack an enzyme that is important for the production of certain adrenal hormones. This causes the pituitary to secrete hormones that stimulate the adrenal gland to make hormones, even though the adrenals themselves are incapable of doing so. The end result is a hormonal imbalance and large adrenal glands. In many patients the adrenal glands produce large amounts of testosterone due to their inability to make cortisol and other hormones.
Types
There are two types of congenital adrenal hyperplasia. Classic adrenal hyperplasia, explains the Mayo Clinic, is usually detected in early childhood or infancy because it affects patients very early in life. Patients with the non-classic form may not develop any symptoms of the disease until adolescence, when the symptoms become more noticeable.
Symptoms
Some of the symptoms of congenital adrenal hyperplasia are a result of the excessive testosterone production by the adrenal glands. Females, according to FamilyDoctor.org can be born with ambiguous genitalia and may develop facial hair and a deeper voice as they progress through life. Males, on the other hand, may have an abnormally large penis. The Mayo Clinic notes that patients with classic adrenal hyperplasia grow rapidly during childhood but ultimately have a shorter than average stature. As infants they may have trouble gaining weight and can have problems with vomiting and dehydration. Adults with non-classic adrenal hyperplasia may be fatigued and have low bone density and hypotension coupled with obesity, high cholesterol and problems with healing.
Diagnosis
Congenital adrenal hyperplasia can be diagnosed, according to the Magic Foundation, via blood or urine tests that measure levels of the hormone cortisol and its precursor, called 17-hydroxyprogesterone. Patients with congenital adrenal hyperplasia will have low cortisol levels but high amounts of 17-hydroxyprogesterone in their blood. The diagnosis can then be confirmed using genetic testing which can identify the genetic mutation leading to the malfunctioning or absent enzyme.
Treatment
The primary treatment for adrenal hyperplasia is supplementation of cortisol with synthetic corticosteroids, such as hydrocortisone or dexamethasone. Patients with the non-classic form of the disease may need to only take these medications when they are sick or under severe stress. Patients with more severe forms need to take the medication every day. The Mayo Clinic also notes that women with ambiguous genitalia as a result of the disease can have surgery to correct the function and appearance of their genitalia.
