Congenital Adrenal Hyperplasia: Inherited Condition that Affects Both Males and Females

Congenital adrenal hyperplasia is an inherited condition that affects both females and males. A person who has this condition lacks the enzymes needed by the adrenal gland to make the hormones aldosterone and cortisol. If a person lacks these hormones, the body manufactures more androgen, a type of male sex hormone. This will cause male characteristics to form early. Both sexes will be tall as children, but quite shorter than the normal adult. If a person has this condition, or has a family history of congenital adrenal hyperplasia, it is strongly recommended that a person has genetic counseling before having children. There are symptoms to look for if you suspect someone has this condition, and treatment options and support groups available.

Symptoms of Congenital Adrenal Hyperplasia in Girls

Girls with this condition may experience abnormal menstrual periods or have no period at all. Some girls may develop a deep voice. At an early age, a girl will start to have pubic and armpit hair, or excessive hair growth. Genitals may appear to look both female and male, but in most cases the genitals will look more male.

Symptoms of Congenital Adrenal Hyperplasia in Boys

Boys may have no obvious problems in the beginning. Changes may start around puberty, but can appear as early as 2 to 3 years of age. A boy with this condition may develop a large penis and small testes. At an early age, a boy may start to have pubic and armpit hair. Boys can also develop a deep voice, male characteristics and well-developed muscles.

Diagnosing Congenital Adrenal Hyperplasia

A person who suspects they have this condition will need to see an endocrinologist, which is a doctor who specializes in the diagnosis and treatment of conditions related to the adrenal glands. A person will be given a full examination and have blood and urine test done. Genetic test may also be done to diagnose, confirm and manage congenital adrenal hyperplasia. If a baby has congenital adrenal hyperplasia, the sex of the baby can be determined by checking the chromosomes. In many states, it is required that a doctor give hormonal test for congenital adrenal hyperplasia in the babies first few days.

Complications

Congenital adrenal hyperplasia can be life-threatening, but in most cases a person can live a normal life with proper treatment. Babies, children and adults can have an adrenal crisis. This is caused from lack of production of cortisol from the adrenal gland. When this happens, it can cause dangerously low levels of sodium in the blood, low blood sugar and shock. People experiencing an adrenal crisis need to seek treatment immediately.

Treatment Options

The main goal of having treatment is to return a person's hormone levels to normal. Once diagnosed, a person will take a form of cortisol every day, and in most cases for the rest of their lives. This treatment should level out their hormones. If a person that has congenital adrenal hyperplasia is under extreme stress, has severe illness or surgery, they may need a higher dosage of medication. Children between the ages 1 to 3 months can have surgeries to correct any abnormalities. An infant girl that is 2 to 6 months of age can have reconstructive surgery to correct the appearance and function of their genitals.

Cares Foundation is a support group for those who have or know someone who has congenital adrenal hyperplasia. Their website is www.caresfoundation.org.

For more information on congenital adrenal hyperplasia go to www.nih.gov, www.congenitaladrenalhyperplasia.org, or www.mayoclinic.com.