11β-Hydroxylase deficiency

Krupali Bulsari; Henrik Falhammar

doi:10.1016/B978-0-12-801238-3.65823-3

11β-Hydroxylase deficiency

Krupali Bulsari, Henrik Falhammar

Wellbeing and Preventable Chronic Disease

Research output: Chapter in Book/Report/Conference proceeding › Entry for encyclopedia/dictionary › peer-review

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 language	English
Title of host publication	Encyclopedia of Endocrine Diseases
Publisher	Elsevier
Pages	421-430
Number of pages	10
Volume	5
Edition	2nd
ISBN (Electronic)	9780128122006
ISBN (Print)	9780128121993
DOIs	https://doi.org/10.1016/B978-0-12-801238-3.65823-3
Publication status	Published - 2019

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title = "11β-Hydroxylase deficiency",

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.",

keywords = "11β hydroxylase enzyme, Clinical manifestations, Congenital adrenal hyperplasia, Diagnosis, Electrolyte disturbance, Fertility, Growth, Hypertension, Management, Molecular genetics, Pathophysiology",

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T1 - 11β-Hydroxylase deficiency

AU - Bulsari, Krupali

AU - Falhammar, Henrik

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N2 - 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.

AB - 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.

KW - 11β hydroxylase enzyme

KW - Clinical manifestations

KW - Congenital adrenal hyperplasia

KW - Diagnosis

KW - Electrolyte disturbance

KW - Fertility

KW - Growth

KW - Hypertension

KW - Management

KW - Molecular genetics

KW - Pathophysiology

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U2 - 10.1016/B978-0-12-801238-3.65823-3

DO - 10.1016/B978-0-12-801238-3.65823-3

M3 - Entry for encyclopedia/dictionary

AN - SCOPUS:85079254355

SN - 9780128121993

VL - 5

SP - 421

EP - 430

BT - Encyclopedia of Endocrine Diseases

PB - Elsevier

ER -

11β-Hydroxylase deficiency

Abstract

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