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What causes congenital adrenal hyperplasia? Congenital adrenal hyperplasia is an inherited condition caused by mutations in genes that code for enzymes involved in making steroid hormones in the adrenal glands. The most common enzyme defect, 21-hydroxylase deficiency, leads to excess amounts of male hormones being produced by the adrenal glands.
Can people with CAH have children? The most common is 21- hydroxylase deficiency, which makes up about 95 percent of cases. A child with this type of CAH has adrenal glands that cannot make enough cortisol and may or may not make aldosterone. Children with this type of CAH may have high blood pressure. These patients do not have aldosterone deficiency.
Can Addison disease be misdiagnosed? Misdiagnosis of Addison's disease in a patient with end-stage renal disease. The physical examination was completely normal except for muscle weakness, hyperpigmentation on labial mucosa and skin in a patient. The laboratory tests revealed anemia and hypoglycemia.
How do you test for congenital adrenal hyperplasia? Advertisement Physical exam. The doctor examines your child and evaluates symptoms. Blood and urine tests. Tests used to diagnose CAH measure levels of hormones produced by the adrenal glands. Gene testing. Testing to determine a child's sex.
What does congenital adrenal hyperplasia do? Congenital adrenal hyperplasia is an inherited condition caused by mutations in genes that code for enzymes involved in making steroid hormones in the adrenal glands. The most common enzyme defect, 21-hydroxylase deficiency, leads to excess amounts of male hormones being produced by the adrenal glands.
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