11β-Hydroxylase deficiency

Krupali Bulsari, Henrik Falhammar

    Research output: Chapter in Book/Report/Conference proceedingChapter

    Abstract

    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.

    Original languageEnglish
    Title of host publicationEncyclopedia of Endocrine Diseases
    PublisherElsevier
    Pages421-430
    Number of pages10
    Volume5
    Edition2nd
    ISBN (Electronic)9780128122006
    ISBN (Print)9780128121993
    DOIs
    Publication statusPublished - 2019

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  • Cite this

    Bulsari, K., & Falhammar, H. (2019). 11β-Hydroxylase deficiency. In Encyclopedia of Endocrine Diseases (2nd ed., Vol. 5, pp. 421-430). Elsevier. https://doi.org/10.1016/B978-0-12-801238-3.65823-3