complications and management of CAH

CAH Complications and management

Cortisol and mineralocorticoid deficiency

Clinical features of new born
Renal salt wasting due to deficiency of mineralocorticoid results in
Adrenal crisis
Vomiting causing acidosis
dehydration
collapse
hyponatremia
hyperkalemia
cardiac arrythmias

other complications
Abnormal female external genitalia (internal organs are normal, excess adrenal androgens)
Early development of male sexual characteristics
Short adult stature despite early, rapid childhood growth
Tumors of the testes in adult men
High blood pressure ( excess mineralocorticoids due to medications)
Low blood sugar ( deficient cortisol)
Side effects of corticosteroids used as treatment







Management:

Immediate treatment of adrenal crisis
Hypoglycemia: IV glucose
Shock: infusion of normal saline
Salt imbalance: mineralocorticoid replacement( fludrocortisone) with sodium chloride supplements

Cortisol deficiency: hydrocortisone, in addition it suppresses ACTH and therefore limits excessive production of adrenal androgens ( however over treatment may suppress growth)


Abnormal female genitalia: reconstructive surgery ( clitorial reduction, vaginoplasty) often performed in infancy

Provide support groups


Treatment
To treat congenital adrenal hyperplasia, it's best to get a referral to a specialist in childhood hormonal issues (pediatric endocrinologist). Treatments include:

Medications. In most cases, your child's doctor will prescribe replacement hormone medication to boost the levels of deficient hormones in your child and restore them to normal levels. For example, your child may take an oral drug such as hydrocortisone or dexamethasone to replace cortisol, and fludrocortisone (Florinef) to replace aldosterone, on a daily basis. At times, children with congenital adrenal hyperplasia need multiple drugs, with even higher doses prescribed during periods of illness or severe stress, including surgery.
Steroid-type replacement medications may cause side effects, particularly if the doses are high and are used long term. Your child will need monitoring for drug-related effects such as the loss of bone mass and impaired growth. Periodic routine blood tests throughout the course of your child's treatment will alert your child's doctor to make medication adjustments if needed. Regular visits to the doctor can serve to evaluate your child's progress, including monitoring changes in height, weight and blood pressure.
As adults, some men and women with congenital adrenal hyperplasia are able to stop taking their medications. However, others, particularly people with the classic form of the disease, may need to take medications indefinitely.

Surgery. In some infant girls who have ambiguous external genitalia, doctors recommend reconstructive surgery to correct the appearance and function of the genitals. This procedure may involve reduction of the clitoris size and reconstruction of the vaginal opening. The surgery is typically performed between the ages of 1 and 3 months.


Prenatal managementSometimes, treatment for congenital adrenal hyperplasia can begin before your child is born.
When congenital adrenal hyperplasia is diagnosed in the fetus, one option is for the pregnant mother to take a potent corticosteroid drug, such as dexamethasone, before giving birth. Corticosteroids can cross the placenta into the womb, and suppress the activity of the fetus's own adrenal glands. By diminishing the secretion of male hormones (androgens), this approach may allow female genitals to develop normally. It can also reduce the masculine features that may develop later in female fetuses. When the fetus is male, doctors may recommend a shorter course of lower dose dexamethasone treatment during pregnancy to keep the adrenal glands functioning as normally as possible.
Although the use of dexamethasone can be effective, many doctors prescribe it cautiously, awaiting findings about the long-term effects of the drug's use in children with this condition. The medication can also cause side effects in the pregnant mother, including excess weight gain, mood swings and high blood pressure.

PrognosisMany children with congenital adrenal hyperplasia can successfully manage the condition by remaining on their medications indefinitely. They grow up to lead lives in good health and with a normal life expectancy; however, they may be shorter than their parents. While most males tend to have normal fertility in adulthood, females with this disorder may have trouble getting pregnant