CAH is a group of genetic diseases in which the two adrenal glands are not working properly. Children inherit the gene that causes the disease each parent. The adrenal glands, located opposite each kidney makes hormones that are essential for the functioning of the body. People with congenital adrenal hyperplasia, an enzyme deficiency. For proper functioning of the adrenal glands (enzymes are proteins that cause chemical changes in the body.) Without the enzyme, the adrenal glands produce little cortisol and / or aldosterone hormone androgen too. congenital adrenal hyperplasia can cause mild or severe. How is CAH diagnosed? In the US and many other countries, CAH checks a newborn with blood. The diagnosis in children may include: Blood tests Urinalysis genetic analysis more family history physical exam Sometimes when you have a family history of congenital adrenal hyperplasia a fetus is diagnosed before birth. The treatment of congenital adrenal hyperplasia prenatal is experimental, and experts recommend be done in the context of clinical trials (research studies with people). Classical CAH, usually first discovered in infancy or early childhood, type of CAH is severe. In one of the classic forms of congenital adrenal hyperplasia (difficulty of the body, the right amount to keep the intake of salt in the blood), adrenal glands not enough cortisol and aldosterone. Untreated, classic CAH can lead to coma and shock of death. In another congenital adrenal hyperplasia classic, an enzyme deficiency is not serious. The adrenal glands make enough aldosterone but not enough cortisol. Signs and symptoms
CAH – genetic disorders in children
In many cases, babies of women diagnosed at birth because they (like external genitals, male genitals) have ambiguous genitalia. However, they still have normal female internal organs (ovaries and uterus). A baby classic look with CAH is usually normal at birth, but it has a penis. After infancy, too fast, children with classic CAH of rapid growth and shows signs of puberty. If not diagnosed at birth, a few weeks later may show weight loss, dehydration, diarrhea and heart problems. Often you can vomit. Treatment The goal of treatment is to ensure adequate hormone levels and promote normal growth and sexual development. Patients with classic CAH should the non-medical providers, including specialists in paediatrics, developmental psychology and endocrinology. People with classic CAH should drugs called glucocorticoids cortisol can replace their bodies can not be applied. Glucocorticoids are under stress, which may be necessary if a patient has an infection. Those classic CAH sufferers may also need medications called mineralocorticoid. Newborns may also require sodium chloride supplementation. Surgery can repair the genitals (ambiguous) in girls. Parents can choose to delay surgery until the child is old enough to make decisions.