11β-hydroxylase deficiency pathophysiology: Difference between revisions
Jump to navigation
Jump to search
Created page with "==Overview== ==Pathogenesis== ==Genetics== ==Associated Conditions== ==Gross Pathology== ==Microscopic Pathology== ==References== {{Reflist|2}} {{WikiDoc Help Menu}}..." |
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. | |||
==Genetics== | ==Genetics== | ||
Revision as of 19:41, 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.
Genetics
Associated Conditions
Gross Pathology
Microscopic Pathology
References