21-Hydroxylase Deficiency

The article, Current Status of neonatal Screening for Congenital supr atomic number 18nal gland Hyperplasia by Maria I sassy and Saroj Nimkarn states, Greater than 7.5 one grand million newborns consent been screened for 21-hydroxylase inadequateness congenital adrenal gland hyperplasia (CAH) worldwide. 21-hydroxylase neediness is give birthd by a mutation of the CYP21A2 broker. CYP21A2 is the only agent associated with 21-hydroxylase deficiency. Molecular familial scrutiny of the CYP21A2 constituent for a venire of common mutations and gene deletions detects 80%-98% of disease-causing alleles in affected singulars. genetic testing is clinically effective with confirmatory diagnostic testing, mailman testing, prenatal diagnosis, genetic temper/phenotype correlation for management, and preimplantation genetic diagnosis as stated in the article, Congenital Adrenal Hyperplasia from Medline positive Online Medical Encyclopedia. U.S. National library of Medicine includes an article called 21-Hydroxylase Deficiency, which states, Mutations in the CYP21A2 gene atomic number 18 a great deal caused by exchanges of DNA between the CYP21A2 gene and a truly akin(predicate) but nonfunctional bite of DNA called a fraud 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 chromosomal mutation allele. This disease affects the glands that are fixed on the top of the kidneys. These glands stir hormones that regulate internal sensible functions; these glands are known as adrenal glands. 21-hydroxylase is an enzyme that creates cholesterol. cholesterin is produces from both hormones, cortisol and aldosterone. Cortisol maintains crosscurrent sugar levels, protects the clay from stress, and suppresses inflammation. Aldosterone regulates salt and water levels in the body. stack with 21-hydroxylase deficiency have a...If you call for to get a large essay, order it on our website: Orderessay

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