Congenital Adrenal Hyperplasia Treatment

Congenital Adrenal Hyperplasia Treatment In Iran

Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder caused by a defect in any of the five enzymatic steps required to synthesize cortisol from cholesterol. The deficiency of cortisol leads to adrenocortical hyperplasia and overproduction of intermediary metabolites. Depending on the enzymatic step that is deficient, there may be signs, symptoms, and laboratory findings of mineralocorticoid deficiency or excess, incomplete virilization or premature androgenization of the affected male; and virilization or sexual infantilism in the affected female.

Newborns, infants and children

All newborns in the United States are screened for classic CAH caused by genetic 21-hydroxylase deficiency during the first few days of life. This test does not identify nonclassic CAH.

Diagnosis of CAH includes:

• Physical exam.The doctor examines your child and evaluates symptoms. If, based on these findings, the doctor suspects CAH, the next step is to confirm the diagnosis with blood and urine tests.
• Blood and urine tests.Tests used to diagnose CAH measure levels of hormones produced by the adrenal glands. A diagnosis can be made when there are abnormal levels of these hormones.
• Gene testing.In older children and young adults, genetic testing may be needed to diagnose CAH.
• Testing to determine a child's sex.In female infants who have severe ambiguous genitalia, tests can be done to analyze chromosomes to identify genetic sex. Also, pelvic ultrasound can be used to identify the presence of female reproductive structures such as the uterus and ovaries.

What are the treatments for congenital adrenal hyperplasia (CAH)?

Medication

• Classic CAH 
  Newborns with classic CAH should start treatment very soon after birth to reduce the effects of CAH. Classic CAH is treated with steroids that replace the low hormones.
  • Infants and children usually take a form of cortisol called hydrocortisone.
  • Adults take hydrocortisone, prednisone, or dexamethasone, which also replace cortisol.
  • Patients with classic CAH also take another medicine, fludrocortisone, to replace aldosterone.
  • Eating salty foods or taking salt pills may also help salt-wasters retain salt.

The body needs more cortisol when it is under physical stress. Adults and children with classic CAH need close medical attention and may need to take more of their medication during these times. They may also need more medication if they:

• Have an illness with a high fever.
• Undergo surgery.
• Sustain a major injury.

People who have classic CAH need to wear a medical alert identification bracelet or necklace. To alert medical professionals in case of an emergency, the bracelet or necklace should read: "adrenal insufficiency, requires hydrocortisone." Adults or parents also need to learn how to give an injection of hydrocortisone if there is an emergency.

Patients with classic CAH need to take medication daily for their entire lives. If a patient stops taking his or her medication, symptoms will return.

The body makes different amounts of cortisol at different times in life, so sometimes a patient's dose of medication may be too high or too low. Taking too much medication to replace cortisol can cause symptoms of Cushing's syndrome. These include:

• Weight gain
• Slowed growth
• Stretch marks on the skin
• Rounded face
• High blood pressure
• Bone loss
• High blood sugar

It is important to alert the health care provider if these symptoms appear so that he or she can adjust the medication dose.

Surgery

• Classic CAH

Girls who are born with ambiguous external genitalia may need surgery. For example, surgery is necessary if changes to the genitals have affected urine flow.

Surgery for treatment of classic CAH should be done by an experienced surgeon who has expertise with this specific type of surgery. Parents may want to consider surgery for their child during infancy, or they may want to delay until later in childhood. Parents should work with their child's health care providers to determine the best timing of treatments.