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The article, “Current Status of Neonatal Screening for Congenital Adrenal Hyperplasia” by Maria I New and Saroj Nimkarn states, “Greater than 7.5 million newborns have been screened for 21-hydroxylase deficiency congenital adrenal hyperplasia (CAH) worldwide.” 21-hydroxylase deficiency is caused by a mutation of the CYP21A2 gene. CYP21A2 is the only gene associated with 21-hydroxylase deficiency. “Molecular genetic testing of the CYP21A2 gene for a panel of common mutations and gene deletions detects 80%-98% of disease-causing alleles in affected individuals.” Genetic testing is clinically useful with “confirmatory diagnostic testing, carrier testing, prenatal diagnosis, genotype/phenotype correlation for management, and preimplantation genetic diagnosis” as stated in the article, “Congenital Adrenal Hyperplasia” from Medline Plus Online Medical Encyclopedia.
U.S. National Library of Medicine includes an article called “21-Hydroxylase Deficiency,” which states, “Mutations in the CYP21A2 gene are often caused by exchanges of DNA between the CYP21A2 gene and a very similar but nonfunctional piece of DNA called a pseudo gene. These mutations alter the structure or production of the enzyme and cause 21-hydroxylase deficiency.” This deficiency is also called congenital adrenal hyperplasia. This condition is inherited genetically as an autosomal recessive pattern. The parents of an affected individual are normally heterozygous carriers of the mutant allele.
This disease affects the glands that are located on the top of the kidneys. These glands produce hormones that regulate essential bodily functions; these glands are known as adrenal glands. 21-hydroxylase is an enzyme that creates cholesterol. Cholesterol is produces from two hormones, cortisol and aldosterone. Cortisol maintains blood sugar levels, protects the body from stress, and suppresses inflammation. Aldosterone regulates salt and water levels in the body. “People with 21-hydroxylase...