11Β-hydroxylase deficiency (11ΒOHD) is a rare variant of congenital adrenal hyperplasia causing reduced or absent activity of the 11Β-hydroxylase (CYP11B1) enzyme. Mutations in CYP11B1 gene leads to hyperandrogenism as peripheral precocious puberty, virilization and hypokalemic hypertension. 11ΒOHD can lead to multiple complications which need to be closely monitored. This article aims to discuss pathophysiology, molecular genetics and diagnosis as well as management principles of 11ΒOHD.
|Title of host publication||Encyclopedia of Endocrine Diseases|
|Number of pages||10|
|Publication status||Published - 2019|