Congenital Adrenal Hyperplasia

Also Know As CAH, Adrenal Virilism, Adrenogenital Syndrome, 21 Hydroxylase Deficiency

Congenital Adrenal Hyperplasia

The adrenal glands are two small organs located just above the kidneys which are important in the manufacture of essential hormones called cortisol and aldosterone. In Congenital adrenal hyperplasia (CAH), certain enzymes are missing in the production of these hormones. Thus, certain body processes may be affected including growth and development. While the condition can be life-threatening, most patients manage to live normally through adequate medical intervention. ^[1]

Epidemiology

Both genders are affected equally. The classic type is often found at birth or early childhood while the nonclassic type is typically recognized during or after puberty years. ^[2]

Causes

All forms of CAH are inherited in an autosomal recessive fashion. Most commonly, CAH is brought about by mutations or deletions of CYP21A. The consequence is 21-hydroxylase deficiency. In Moroccan or Iranian-Jewish descent, 11-beta-hydroxylase deficiency is more frequent. ^[2]                                                                        

Signs and Symptoms                                                                                         

Generally, there are two types of CAH: classical CAH-21-hydroxylase deficiency and the non-classical one. The classic type is more serious as it can predispose a patient to adrenal crises which can be fatal. The disorder is often apparent at birth since female patients have an abnormally enlarged clitoris. Males typically do not have genital abnormalities but have a strangely fast body growth.  In the non-classical type, the symptoms become noticeable at puberty. These include irregular menstruation, abnormal pubic hair development and severe acne dilemma. Some mild forms of the disease may cause males to enter puberty earlier as they may have premature deepening of voice, penis enlargement and muscle development. ^{[3] [4]}

Diagnosis

After getting the medical history and physical exam, the patient is usually subjected to certain laboratory tests. Blood tests are often done to check the levels of aldosterone, cortisol, rennin and serum electrolytes. Genetic tests are also available as confirmatory tool. ^[4]

Treatment

Standard medical treatment is glucocorticoid. Those who lack aldosterone may need another drug called fludrocortisone. Infants are often given supplementary salt. ^[3] Also, female babies who have abnormally looking genitalia may warrant surgery. Patients are often shorter than normal adults. Medication must be maintained for the whole life. CAH usually does not cause a problem in fertility. ^[4]

References:

1.      http://www.mayoclinic.com/health/congenital-adrenal-hyperplasia/DS00915

2.      http://emedicine.medscape.com/article/919218-overview#a0199

3.      http://www.nadf.us/diseases/cah.htm

4.      http://www.nlm.nih.gov/medlineplus/ency/article/000411.htm

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