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11ß-Hydroxylase deficient congenital adrenal hyperplasia (11ß-OH CAH) is an uncommon form of congenital adrenal hyperplasia resulting from a defect in the gene for the enzyme which mediates the final step of cortisol synthesis in the adrenal. 11ß-OH CAH results in hypertension due to excessive mineralocorticoid effects. It also causes excessive androgen production both before and after birth and can virilize a genetically female fetus or a child of either sex.
Congenital adrenal hyperplasia (CAH) refers to any of several autosomal recessive diseases resulting from defects in steps of the synthesis of cortisol from cholesterol by the adrenal glands. All of the forms of CAH involve excessive or defective production of sex steroids and can pervert or impair development of primary or secondary sex characteristics in affected infants, children, and adults. Many also involve excessive or defective production of mineralocorticoids, which can cause hypertension or salt wasting.
The most common type of CAH is due to deficiency of 21-hydroxylase. 11ß-Hydroxylase deficient congenital adrenal hyperplasia is one of the less common types of CAH due to deficiencies of other proteins and enzymes involved in cortisol synthesis. Other uncommon types are described in individual articles (links below).
11ß-OH CAH resembles 21-hydroxylase deficient CAH in its androgenic manifestations: partial virilization and ambiguous genitalia of genetically female infants, childhood virilization of both sexes, and rarer cases of virilization or infertility of adolescent and adult women. The mineralocorticoid effect differs: hypertension is usually the clinical clue that a patient has 11- rather than 21-hydroxylase CAH. Diagnosis of 11ß-OH CAH is usually confirmed by demonstration of marked elevations of 11-deoxycortisol and 11-deoxycorticosterone (DOC), the substrates of 11ß-hydroxylase. Management is similar to that of 21-hydroxylase deficient CAH except that mineralocorticoids need not be replaced.
Mineralocorticoid manifestations of severe 11ß-hydroxylase deficient CAH can be biphasic, changing from deficiency (salt-wasting) in early infancy to excess (hypertension) in childhood and adult life.
Salt-wasting in early infancy does not occur in most cases of 11ß-OH CAH but can occur because of impaired production of aldosterone aggravated by inefficiency of salt conservation in early infancy. When it occurs it resembles the salt-wasting of severe 21-hydroxylase deficient CAH: poor weight gain and vomiting in the first weeks of life progress and culminate in life-threatening dehydration, hyponatremia, hyperkalemia, and metabolic acidosis in the first month.
Despite the inefficient production of aldosterone, the more characteristic mineralocorticoid effect of 11ß-OH CAH is hypertension. Progressive adrenal hyperplasia due to persistent elevation of ACTH results in extreme overproduction of 11-deoxycorticosterone (DOC) by mid-childhood. DOC is a weak mineralocorticoid, but usually reaches high enough levels in this disease to cause effects of mineralocorticoid excess: salt retention, volume expansion, and hypertension.
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