Genetic Case Studies

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GENETIC CASE STUDIES 4 Case 1 Q1. This infant exhibits a genetic defect known as 21-hydroxylase deficiency classical congenital adrenal hyperplasia (CAH), which "is an inherited disorder that affects the adrenal glands" (What is 21-hydroxylase deficiency, 2010, NIH). The female infant in this case study exhibits the 'classic' form of the condition, resulting in ambiguous genitalia. "The adrenal glands are located on top of the kidneys and produce a variety of hormones that regulate many essential functions in the body. In people with 21-hydroxylase deficiency, the adrenal glands produce excess androgens, which are male sex hormones" (What is 21-hydroxylase deficiency, 2010, NIH). Females with the condition may exhibit male sex traits such hirsutism and pattern baldness as well as irregular menstruation and impaired fertility. The source of the condition is a mutation in the CYP21A2 gene which is necessary for the creation of the enzyme 21-hydroxylase. "This enzyme is found in the adrenal glands, where it plays a role in producing hormones called cortisol and aldosterone" and without the enzyme, "substances that are usually used to form cortisol and aldosterone instead build up in the adrenal glands and are converted to androgens. The excess production of androgens leads to abnormalities of sexual development in people with 21-hydroxylase deficiency" (What is 21-hydroxylase deficiency, 2010, NIH). Q2. There is no known 'cure' for this disorder. However, early
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