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Congenital Adrenal Hyperplasia - Term Paper Example

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Pattern of inheritance Congenital adrenal hyperplasia (CAH) refers to a group of autosomal recessive disorders that result enzyme denaturation and subsequently to deficiency in cortisol, aldosterone or both (Haldeman-Englert n.pag.; Wilson n. pag.). This means that a person with CAH can only be born from allele-carrying patients and/or clinically-presenting CAH individuals…
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Congenital Adrenal Hyperplasia
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Download file to see previous pages pag,). In humans, the gene coding for 21-hydroxylase is located at the major histocompatibility complex on chromosome 6p21.3. Partial deletions, as well as point missense and nonsense mutations, have been found to cause such chromosomal aberrations (Riepe, et al. 2563). Clinical Presentation Early diagnosis is more difficult in cases of CAH because no physical symptoms are present at birth. Thus, the presence of the condition is missed until the age of puberty is reached, when the expected physical changes are not met. As an individual with CAH ages, ambiguous genitalia, accelerated growth, and premature skeletal maturation are seen, due to excessive adrenal androgen production. In males, enlarged penises are noticed even during pre-puberty. On the other hand, such genital enlargement is seen in females as clitoromegaly. In addition, females with CAH present with oligomenorrhea, hirsutism, absence of secondary sexual characteristics, and/or fertility. Because of these features, females with undiagnosed CAH are nurtured as males. Among males, severe cases cause severe symptoms such as failure to thrive, recurrent vomiting, dehydration, hypotension, hyponatremia, hyperkalemia, and shock. However, 11-hydroxylase and 17-alpha-hydroxylase-deficient patients may be hypokalemic, and Electrolyte imbalance is caused by adrenal insufficiency, while hypoglycemia and hypotension results from cortisol deficiency (Haldeman-Englert n. pag.; Wilson n. pag.). Treatment In managing patients with CAH, a comprehensive approach on treatment is needed, since the condition does not only affect the physical, but the emotional and psychological aspects of the patient as well. It should, thus, involve medical therapy, surgical intervention and lifestyle modifications. Medical intervention Primarily, the role of medical intervention is to replace glucocorticoids and mineralocorticoids, as well as to decrease the serum levels of virilizing precursor hormones. However, certain medications are necessary to avoid fatal consequences resulting from the symptoms of adrenal insufficiency (Wilson n. pag.). 1.) Corticoids Physiologically, glucocorticoids and mineralocorticoids released by adrenal glands in response to increased levels of adrenocorticotropin hormone (ACTH) are important in regulating normal glucose and electrolyte levels, respectively. In CAH therapy, glucocorticoids are given to suppress the perpetually elevated ACTH levels and adrenal androgen production, while mineralocorticoid therapy reduces angiotensin II levels that regulate blood pressure. All healthcare providers or caretakers of CAH patients should always have an injectable glucocorticoid at hand in case of rapid decline. These medications are safe, since they are normal products of the body, they do not have contraindications, and they only have minimal drug-drug interactions (Wilson n. pag.). Normally, increased levels of cortisol are apparent among individuals who experience stress or illness. However, as mentioned above, such response is absent among CAH patients due to lack of enzymes needed to produce cortisol. Thus, among CAH individuals, in cases of stress or illnesses, stress dosages of hydrocortisone (50-100 mg/m2 or 1-2 ...Download file to see next pagesRead More
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