11β-hydroxylase deficiency pathophysiology: Difference between revisions
No edit summary |
No edit summary |
||
| Line 2: | Line 2: | ||
==Pathogenesis== | ==Pathogenesis== | ||
11β-Hydroxylase deficient congenital adrenal hyperplasia (11β-OH CAH) is an uncommon form of [[congenital adrenal hyperplasia]] (CAH) resulting from a defect in the [[gene]] encoding the [[enzyme]] [[steroid 11β-hydroxylase]] which mediates the final step of [[cortisol]] synthesis in the [[adrenal gland|adrenal]]. 11β-OH CAH results in [[hypertension]] due to excessive [[mineralocorticoid]] effects. It also causes excessive [[androgen]] production both before and after birth and can [[virilization|virilize]] a genetically female fetus or a child of either sex. | 11β-Hydroxylase deficient congenital adrenal hyperplasia (11β-OH CAH) is an uncommon form of [[congenital adrenal hyperplasia]] (CAH) resulting from a defect in the [[gene]] encoding the [[enzyme]] [[steroid 11β-hydroxylase]] which mediates the final step of [[cortisol]] synthesis in the [[adrenal gland|adrenal]]. 11β-OH CAH results in [[hypertension]] due to excessive [[mineralocorticoid]] effects. It also causes excessive [[androgen]] production both before and after birth and can [[virilization|virilize]] a genetically female fetus or a child of either sex. 11β-OH congenital adrenal hyperplasia resembles [[congenital adrenal hyperplasia|21-hydroxylase deficient CAH]] in its [[androgen]]ic 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 11β-OH congenital adrenal hyperplasia is usually confirmed by demonstration of marked elevations of 11-deoxycortisol and 11-deoxycorticosterone (DOC), the substrates of 11β-hydroxylase. Management is similar to that of 21-hydroxylase deficient congenital adrenal hyperplasia except that mineralocorticoids need not be replaced. | ||
==Genetics== | ==Genetics== | ||
Revision as of 19:42, 25 January 2016
Overview
Pathogenesis
11β-Hydroxylase deficient congenital adrenal hyperplasia (11β-OH CAH) is an uncommon form of congenital adrenal hyperplasia (CAH) resulting from a defect in the gene encoding the enzyme steroid 11β-hydroxylase which mediates the final step of cortisol synthesis in the adrenal. 11β-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. 11β-OH congenital adrenal hyperplasia 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 11β-OH congenital adrenal hyperplasia is usually confirmed by demonstration of marked elevations of 11-deoxycortisol and 11-deoxycorticosterone (DOC), the substrates of 11β-hydroxylase. Management is similar to that of 21-hydroxylase deficient congenital adrenal hyperplasia except that mineralocorticoids need not be replaced.
Genetics
Associated Conditions
Gross Pathology
Microscopic Pathology
References