(Congenital adrenal hyperplasia, virilism adrenal)

Congenital adrenal hyperplasia belongs to a group of genetic disorders is characterized by an inadequate synthesis of cortisol, aldosterone, or both. In the most common forms, accumulated hormone precursors may be diverted to the androgen production, leading to an androgen excess; in rarer forms the synthesis of androgens is also insufficient.

In the various forms of congenital adrenal hyperplasia is the production of cortisol (a glucocorticoid), aldosterone (mineralocorticoid) or impaired both. The cause is an autosomal recessive gene defect on one of the adrenal enzyme, which is involved in the synthesis of adrenal hormones from cholesterol. The enzyme may be absent or be present in too small amounts, and thus prevent the synthesis of cortisol, aldosterone or both partially or completely. In the forms in which the cortisol synthesis is missing or reduced, is corticotropin (ACTH), which is otherwise suppressed by cortisol, distributed increased.

Congenital adrenal hyperplasia belongs to a group of genetic disorders is characterized by an inadequate synthesis of cortisol, aldosterone, or both. In the most common forms, accumulated hormone precursors may be diverted to the androgen production, leading to an androgen excess; in rarer forms the synthesis of androgens is also insufficient. In the various forms of congenital adrenal hyperplasia is the production of cortisol (a glucocorticoid), aldosterone (mineralocorticoid) or impaired both. The cause is an autosomal recessive gene defect on one of the adrenal enzyme, which is involved in the synthesis of adrenal hormones from cholesterol. The enzyme may be absent or be present in too small amounts, and thus prevent the synthesis of cortisol, aldosterone or both partially or completely. In the forms in which the cortisol synthesis is missing or reduced, is corticotropin (ACTH), which is otherwise suppressed by cortisol, distributed increased. The most common forms of congenital adrenal hyperplasia are 21-hydroxylase (Congenital adrenal hyperplasia, which is caused by a defect of the 11-hydroxylase) and 11?-hydroxylase (Congenital adrenal hyperplasia, which is caused by an 11 ?-hydroxylase deficiency). In these forms progenitor accumulate before the enzyme stop and be redirected to the metabolic pathway of adrenal androgens. In the male fetus does not occur pathological changes of the external genitalia. The resulting excess of androgens results in affected female fetuses to varying degrees of virilization the external genitalia. In the less common forms of congenital adrenal hyperplasia except for the 21-hydroxylase, and the 11?-hydroxylase, the enzyme can stop the androgen influence (dehydroepiandrosterone [DHEA] or androstenedione). The result is an impaired virilization of the male fetus while in the female fetus no fault can be seen.

Health Life Media Team

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