Congenital Adrenal Hyperplasia, Which Is Caused By A 11 ?-Hydroxylase Deficiency

11?-hydroxylase (CYP11B1) deficiency comprising the faulty production of cortisol, with an accumulation of mineralocorticoid predecessors, leading to hypernatremia, hypokalemia, hypertension, and increased production of adrenal androgens, resulting in virilization. The diagnosis is made by the determination of cortisol, its precursors and the adrenal androgens and sometimes by the determination of 11-Desoxykortisol after ACTH stimulation. The treatment is performed with corticosteroids.

A 11?-hydroxylase causes approximately 5 to 8% of all cases of Nebennierenhyperplasien (overview of congenital adrenal hyperplasia). The conversions of 11-deoxycortisol in cortisol and corticosterone in deoxycorticosterone are partially blocked, resulting in

11?-hydroxylase (CYP11B1) deficiency comprising the faulty production of cortisol, with an accumulation of mineralocorticoid predecessors, leading to hypernatremia, hypokalemia, hypertension, and increased production of adrenal androgens, resulting in virilization. The diagnosis is made by the determination of cortisol, its precursors and the adrenal androgens and sometimes by the determination of 11-Desoxykortisol after ACTH stimulation. The treatment is performed with corticosteroids. A 11?-hydroxylase causes approximately 5 to 8% of all cases of Nebennierenhyperplasien (overview of congenital adrenal hyperplasia). The conversions of 11-deoxycortisol in cortisol and corticosterone in deoxycorticosterone are partially blocked, resulting in increased levels of ACTH accumulation of 11-deoxycortisol (the limited biological activity has) and deoxycorticosterone (the mineralocorticoid activity has) overproduction of adrenal androgens ( DHEA, androstenedione and testosterone) symptoms and complaints The newborn female have ambiguous genitalia with an enlarged clitoris, labia merged and a urogenital sinus. The newborn males appear to be normal, but some have an enlarged penis. Some children later precocious puberty or a girls an irregular period and hirsutism. A salt retention of hypernatremia, hypertension and hypokalemic alkalosis may be a consequence of increased due to the increased Mineralocorticoidaktivität deoxycorticosterone levels. Diagnosis plasma levels of 11-deoxycortisol and adrenal androgens There is no prenatal diagnosis. The diagnosis in newborns is confirmed by increased plasma levels of 11-deoxycortisol and androgens (DHEA, androstenedione and testosterone). The renin activity in plasma is often suppressed due to increased mineralocorticoid activity; this test may be useful in older children, but is less reliable in newborns. If the diagnosis is not certain that the levels of 11-Desoxykortisol and adrenal androgens before and 60 min after ACTH stimulation determined. If the output values ??of the young people concerned are normal, a ACTH stimulation is necessary. Hypertension occurs in about two thirds of patients with CYP11B1 deficiency and distinguishes it from causing CYP21A2- lack of hypotension. Because both CYP11B1 deficiency and CYP21A2 deficiency increased levels of 17-hydroxyprogesterone, which is measured during the routine neonatal screening can cause, should in patients with mild or moderately elevated levels of 17-hydroxyprogesterone measured 11-deoxycortisol mirror become. Hypokalemia can occur, but not in all patients. Tips and risks 11?-hydroxylase deficiency causes hypertension and hypokalemia sometimes, as opposed to 21-hydroxylase deficiency, hypotension and hyperkalemia caused. Corticosteroid therapy may antihypertensive therapy may reconstructive surgery, the treatment consists in a substitution of cortisone, hydrocortisone typically 3.5-5 mg / m2 3 times a day (with a typical total daily dose of ? 20 mg / m2), which prevents further Virisilierung and hypertension improved by reducing the levels of 11-deoxycortisol, deoxycorticosterone, and adrenal androgens, which are stimulated by ACTH. Unlike the CYP21A2 deficiency no Mineralocorticoidersatz is needed because the sodium and potassium homeostasis is maintained by the Mineralocorticoideffekten of deoxycorticosterone. The response to therapy is closely monitored by measuring the serum levels of 11-Desoxykortisol and adrenal androgens and measures the rate of growth and skeletal maturation. In hypertensive patients, blood pressure should be measured regularly. Antihypertensives, such as potassium-sparing diuretics or calcium channel blockers may be required. In affected girls possibly a reduction surgery of the clitoris and a reconstruction of the vagina must be performed. Often more surgery in adulthood are necessary. But with appropriate care and attention regarding psychosocial needs a normal sex life can be guided and fertility expected. Key points Children with 11?-hydroxylase deficiency have cause excess Mineralocorticoidaktivität and increased adrenal androgens, hypertension, hypokalemia, and virilization. In girls, the Androgenexzess usually manifested with intersexual external genitalia (e.g., enlargement of the clitoris, bonding of the labia majora, a urogenital sinus instead a significant urethral or vaginal opening.); later in their lives they may have hirsutism, oligomenorrhea and acne. Male infants seem to be normal, can later but show sexual precocity. The diagnosis is made with steroid hormone levels and sometimes with ACTH stimulation. Treatment is with Kortikosteroidersatz and sometimes antihypertensives; Women may need reconstructive surgery.

Health Life Media Team

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