Brief Answer:
CAH

Detailed Answer:
Congenital adrenal hyperplasia, or CAH, is a genetic disorder that affects the adrenal glands. While rare, affecting one in every 10,000 to 15,000 babies born each year, it creates a lifetime of problems that need attention.

How CAH Affects the Body
The adrenal glands sit on top of the kidneys and make the steroid hormones that keep the body functioning properly. These hormones include aldosterone, cortisol and androgens. In a person with CAH, the gene that controls the production of the enzymes the body uses to control these hormones is defective. Thus, the patient's body does not have one of the enzymes needed for the adrenal glands to function properly. This leads to too little production of cortisol or aldosterone or too much production of androgen. CAH is classified as severe (classic) or mild (nonclassic).

Diagnosing CAH
Congenital adrenal hyperplasia (CAH) is typically diagnosed at birth during routine newborn blood screenings. If it is not diagnosed this way, tests for CAH later in life include:
Blood and urine testing
Genetic testing
Physical examination
Examination of family history
If a family has a history of CAH, the baby may be tested in the womb.

Common Types of CAH
The treatment and symptoms of CAH will vary depending on the type. Classic CAH can be life-threatening without proper treatment, but nonclassic is much less severe.
Classic CAH can come in two forms: salt-wasting CAH and simple virilizing CAH.

Salt-wasting CAH - This is the most common form and occurs when both cortisol and aldosterone levels are reduced, while androgen levels are increased. It is called "salt-wasting" because the body has trouble keeping proper salt levels in the blood. Baby girls born with salt-wasting CAH may experience ambiguous genital, or genitalia that looks both male and female. Males born with this condition may have an enlarged penis. Both girls and boys may develop masculine features before puberty. The condition can lead to life-threatening episodes of vomiting, weight loss and dehydration in infancy.

Simple virilizing CAH - In a patient with this form of CAH, levels of cortisol are reduced, but a much lower deficiency in aldosterone is seen. Also, patients do not have salt wasting. It causes ambiguous genitalia in girls and virilization in both genders.
Some babies can experience nonclassic CAH, which has only one form. This form only affects androgen levels, but it does not cause genital ambiguity. Instead, growth, puberty and fertility may be affected later in life.
Treatment of CAH
The goal of treating classic CAH is to ensure that patients have proper hormone levels, and normal growth and sexual development. This requires a team of health care providers who specialize in genetics, endocrinology and pediatric care. Surgery to correct genitalia in girls is a common procedure, and medications to replace cortisol in the body is also helpful. Some patients with salt-wasting CAH will need mineralocorticoids to restore the missing salt.

Nonclassic CAH is not life-threatening, and so treatment is required only if symptoms are severe or impact normal development. Low doses of glucocorticoids are usually all that is needed to manage nonclassic CAH symptoms.
If you have been correctly diagnosed with congenital adrenal hyperplasia, it's important to work closely with your doctors to ensure full health and proper development. With the right team of health care providers, this condition can be managed, and patients with CAH can live normal, healthy lives.

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