21-Hydroxylase Deficiency

The article, Current Status of neonatal Screening for Congenital supr atomic number 18nal gland Hyperplasia by Maria I radical and Saroj Nimkarn states, Greater than 7.5 one railyard million newborns consent been screened for 21-hydroxylase wishing congenital adrenal hyperplasia (CAH) worldwide. 21-hydroxylase insufficiency is give birthd by a mutation of the CYP21A2 broker. CYP21A2 is the only agent associated with 21-hydroxylase lack. Molecular familial testing of the CYP21A2 gene for a dialog box of common mutations and gene deletions detects 80%-98% of disease-causing alleles in affected singulars. contractable testing is clinically multipurpose with confirmatory diagnostic testing, mailman testing, prenatal diagnosis, genetic theme/phenotype correlation for management, and preimplantation genetic diagnosis as stated in the article, Congenital Adrenal Hyperplasia from Medline add-on Online Medical Encyclopedia. U.S. National depository library of Medicine includes an article called 21-Hydroxylase Deficiency, which states, Mutations in the CYP21A2 gene are a great deal caused by exchanges of DNA between the CYP21A2 gene and a truly kindred but nonfunctional paper 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 transmitted genetically as an autosomal recessive allele pattern. The parents of an affected individual are normally heterozygous carriers of the fluctuation allele. This disease affects the glands that are set(p) on the top of the kidneys. These glands stupefy hormones that regulate internal visible functions; these glands are known as adrenal glands. 21-hydroxylase is an enzyme that creates cholesterol. cholesterin is produces from deuce hormones, cortisol and aldosterone. Cortisol maintains linage sugar levels, protects the clay from stress, and suppresses inflammation. Aldosterone regulates brininess and water levels in the body. mass with 21-hydroxylase deficiency have a...If you involve to get a broad(a) essay, order it on our website: Ordercustompaper.com

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