Congenital Adrenal Hyperplasia Research Paper

Definition
Congenital adrenal hyperplasia can affect both boys and girls. People with congenital adrenal hyperplasia lack an enzyme needed by the adrenal gland to make the hormones cortisol and aldosterone. Without these hormones, the body produces more androgen, a type of male sex hormone. This causes male characteristics to appear early (or inappropriately). About 1 in 10,000 to 18,000 children are born with congenital adrenal hyperplasia.

Signs and Symptoms
Girls will usually have normal female reproductive organs (ovaries, uterus, and fallopian tubes). They may also have the following changes: * Abnormal menstrual periods * Deep voice * Early appearance of pubic and armpit hair * Excessive hair growth and facial hair
Two copies of an abnormal gene are required for disease to occur, and not all mutations and partial deletions result in disease. The phenotype can vary from clinically inapparent disease (occult or cryptic adrenal hyperplasia) to a mild form of disease that is expressed in adolescence or adulthood (nonclassic adrenal hyperplasia) to severe disease that results in adrenal insufficiency in infancy with or without virilization and salt wasting (classic adrenal hyperplasia). The most common form of adrenal hyperplasia (due to a deficiency of 21-hydroxylase activity) is clinically divided into 3 phenotypes: salt wasting, simple virilizing, and nonclassic.
CYP21A is the gene that codes for 21-hydroxylase, CYP11B1 codes for 11-beta-hydroxylase, and CYP17 codes for 17-alpha-hydroxylase. Many of the enzymes involved in cortisol and aldosterone syntheses are cytochrome P450 (CYP) proteins.
Diagnostic Test
Tests to diagnose congenital adrenal hyperplasia include: * Physical exam. Your child's doctor will examine your child and evaluate symptoms. If, based on these findings, the doctor suspects congenital adrenal hyperplasia, the next step is to confirm the diagnosis with blood and urine
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