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Congenital Adrenal Hyperplasias (CAH)

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Congenital adrenal hyperplasias (CAH) are autosomal recessive disorders characterized by impaired synthesis of cortisol and accumulation of cortisol precursor. Biosynthesis of this glucocorticoid occurs in the zone fasciculata of the adrenal cortex under the influence of adrenocorticotropin hormone (ACTH), and requires five functional enzymes in order to convert cholesterol to its final product. Cortisol levels below threshold, result in an blockage of feedback inhibition of ACTH secretion, causing an increase in ACTH and enlargement of the adrenal cortex. Treatment is primarily focused on reducing long term consequences of glucocorticoid deficiency, and normalize synthesis of aldosterone and androgens.

CAH is caused by an inherited defect …show more content…
Female patients with classical 21-hydroxylase deficiency have masculinized external genitalia due to excess exposure to androgen secretion prenatally. In contrast, in the non-classical form of 21-OHD deficiency, enzyme activity is partially maintained, causing impaired synthesis of both cortisol and testosterone. Defects in testosterone production cause absence or incomplete masculinization of male …show more content…
Major focus of therapy for patients with 21-OHD are prevention of enlargement and abnormal tissue growth in the adrenal glands and gonads; prevent side effects as result of long-term administration of adrenal replacement therapies; and restoration of fertility. A balanced management of the disease is essential for favorable outcomes ; while under- treatment leads to overproduction of adrenal androgens and growth retardation, over-treatment may result in elevated blood pressure and Cushing’s

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