U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

11-Beta-Hydroxylase Deficiency

MedGen UID:
777159
•Concept ID:
C3669121
•
Disease or Syndrome
Synonyms: 11 Beta Hydroxylase Deficiency; 11-Beta-hydroxylase deficiency; 11B Hydroxylase Deficiency; P450C11B1 deficiency; Steroid 11 Beta Hydroxylase Deficiency; Steroid 11-Beta-Hydroxylase Deficiency

Definition

Decreased or absent activity of the enzyme 11-beta-hydroxylase caused by loss-of-function mutations in the CYP11B1 gene, resulting in congenital adrenal hyperplasia. Clinical manifestations of this condition include virilization in 46XX infants and hypertension. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGV11-Beta-Hydroxylase Deficiency

Professional guidelines

PubMed

Allele-specific PCR and Next-generation sequencing based genetic screening for Congenital Adrenal Hyperplasia in India.
Ravichandran L, Korula S, Asha HS, Varghese D, Parthiban R, Johnson J, Ishwarya J, Shetty S, Cherian KE, Jebasingh F, Kapoor N, Pachat D, Mathai S, Simon A, Rajaratnam S, Paul TV, Thomas N, Chapla A
Eur J Med Genet 2021 Dec;64(12):104369. Epub 2021 Oct 27 doi: 10.1016/j.ejmg.2021.104369. PMID: 34718183
Prenatal treatment of congenital adrenal hyperplasia. The United States experience.
New MI
Endocrinol Metab Clin North Am 2001 Mar;30(1):1-13. doi: 10.1016/s0889-8529(08)70016-1. PMID: 11344929
11 Beta-hydroxylase deficiency congenital adrenal hyperplasia: update of prenatal diagnosis.
Rösler A, Weshler N, Leiberman E, Hochberg Z, Weidenfeld J, Sack J, Chemke J
J Clin Endocrinol Metab 1988 Apr;66(4):830-8. doi: 10.1210/jcem-66-4-830. PMID: 3346360

Recent clinical studies

Etiology

Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency in a Tunisian family.
Elfekih H, Abdelkrim AB, Marzouk H, Saad G, Gribaa M, Hasni Y, Maaroufi A
Pan Afr Med J 2020;36:226. Epub 2020 Jul 28 doi: 10.11604/pamj.2020.36.226.24270. PMID: 33708317Free PMC Article
Novel and prevalent CYP11B1 gene mutations in Turkish patients with 11-β hydroxylase deficiency.
Kandemir N, Yilmaz DY, Gonc EN, Ozon A, Alikasifoglu A, Dursun A, Ozgul RK
J Steroid Biochem Mol Biol 2017 Jan;165(Pt A):57-63. Epub 2016 Mar 5 doi: 10.1016/j.jsbmb.2016.03.006. PMID: 26956189
11Beta-hydroxylase deficiency and other syndromes of mineralocorticoid excess as a rare cause of endocrine hypertension.
Melcescu E, Phillips J, Moll G, Subauste JS, Koch CA
Horm Metab Res 2012 Nov;44(12):867-78. Epub 2012 Aug 29 doi: 10.1055/s-0032-1321851. PMID: 22932914
11 beta-hydroxylase deficiency in hyperandrogenism.
Azziz R, Boots LR, Parker CR Jr, Bradley E Jr, Zacur HA
Fertil Steril 1991 Apr;55(4):733-41. PMID: 2009997
11 Beta-hydroxylase deficiency congenital adrenal hyperplasia: update of prenatal diagnosis.
Rösler A, Weshler N, Leiberman E, Hochberg Z, Weidenfeld J, Sack J, Chemke J
J Clin Endocrinol Metab 1988 Apr;66(4):830-8. doi: 10.1210/jcem-66-4-830. PMID: 3346360

Diagnosis

Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency in a Tunisian family.
Elfekih H, Abdelkrim AB, Marzouk H, Saad G, Gribaa M, Hasni Y, Maaroufi A
Pan Afr Med J 2020;36:226. Epub 2020 Jul 28 doi: 10.11604/pamj.2020.36.226.24270. PMID: 33708317Free PMC Article
Clinical perspectives in congenital adrenal hyperplasia due to 11β-hydroxylase deficiency.
Bulsari K, Falhammar H
Endocrine 2017 Jan;55(1):19-36. Epub 2016 Dec 7 doi: 10.1007/s12020-016-1189-x. PMID: 27928728
11Beta-hydroxylase deficiency and other syndromes of mineralocorticoid excess as a rare cause of endocrine hypertension.
Melcescu E, Phillips J, Moll G, Subauste JS, Koch CA
Horm Metab Res 2012 Nov;44(12):867-78. Epub 2012 Aug 29 doi: 10.1055/s-0032-1321851. PMID: 22932914
Hyper- and hypoaldosteronism.
Torpy DJ, Stratakis CA, Chrousos GP
Vitam Horm 1999;57:177-216. doi: 10.1016/s0083-6729(08)60644-5. PMID: 10232050
11 beta-hydroxylase deficiency in hyperandrogenism.
Azziz R, Boots LR, Parker CR Jr, Bradley E Jr, Zacur HA
Fertil Steril 1991 Apr;55(4):733-41. PMID: 2009997

Therapy

Case Report: A Novel Mutation Leading to 11-β Hydroxylase Deficiency in a Female Patient.
Ozbas B, Demir M, Dursun H, Sahin I, Hacioglu A, Karaca Z, Dundar M, Unluhizarci K
Endocr Metab Immune Disord Drug Targets 2023;23(5):721-726. doi: 10.2174/1871530322666221007145410. PMID: 36214299Free PMC Article
Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency in a Tunisian family.
Elfekih H, Abdelkrim AB, Marzouk H, Saad G, Gribaa M, Hasni Y, Maaroufi A
Pan Afr Med J 2020;36:226. Epub 2020 Jul 28 doi: 10.11604/pamj.2020.36.226.24270. PMID: 33708317Free PMC Article
Clinical perspectives in congenital adrenal hyperplasia due to 11β-hydroxylase deficiency.
Bulsari K, Falhammar H
Endocrine 2017 Jan;55(1):19-36. Epub 2016 Dec 7 doi: 10.1007/s12020-016-1189-x. PMID: 27928728
Steroid 11 beta-hydroxylase deficiency and related disorders.
White PC
Endocrinol Metab Clin North Am 2001 Mar;30(1):61-79, vi. doi: 10.1016/s0889-8529(08)70019-7. PMID: 11344939
Prenatal treatment of congenital adrenal hyperplasia. The United States experience.
New MI
Endocrinol Metab Clin North Am 2001 Mar;30(1):1-13. doi: 10.1016/s0889-8529(08)70016-1. PMID: 11344929

Prognosis

Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency in a Tunisian family.
Elfekih H, Abdelkrim AB, Marzouk H, Saad G, Gribaa M, Hasni Y, Maaroufi A
Pan Afr Med J 2020;36:226. Epub 2020 Jul 28 doi: 10.11604/pamj.2020.36.226.24270. PMID: 33708317Free PMC Article
Prevalence, clinical characteristics and long-term outcomes of classical 11 β-hydroxylase deficiency (11BOHD) in Turkish population and novel mutations in CYP11B1 gene.
Baş F, Toksoy G, Ergun-Longmire B, Uyguner ZO, Abalı ZY, Poyrazoğlu Ş, Karaman V, Avcı Ş, Altunoğlu U, Bundak R, Karaman B, Başaran S, Darendeliler F
J Steroid Biochem Mol Biol 2018 Jul;181:88-97. Epub 2018 Apr 4 doi: 10.1016/j.jsbmb.2018.04.001. PMID: 29626607
Clinical, genetic, and structural basis of congenital adrenal hyperplasia due to 11β-hydroxylase deficiency.
Khattab A, Haider S, Kumar A, Dhawan S, Alam D, Romero R, Burns J, Li D, Estatico J, Rahi S, Fatima S, Alzahrani A, Hafez M, Musa N, Razzghy Azar M, Khaloul N, Gribaa M, Saad A, Charfeddine IB, Bilharinho de Mendonça B, Belgorosky A, Dumic K, Dumic M, Aisenberg J, Kandemir N, Alikasifoglu A, Ozon A, Gonc N, Cheng T, Kuhnle-Krahl U, Cappa M, Holterhus PM, Nour MA, Pacaud D, Holtzman A, Li S, Zaidi M, Yuen T, New MI
Proc Natl Acad Sci U S A 2017 Mar 7;114(10):E1933-E1940. Epub 2017 Feb 22 doi: 10.1073/pnas.1621082114. PMID: 28228528Free PMC Article
11 beta-hydroxylase deficiency in hyperandrogenism.
Azziz R, Boots LR, Parker CR Jr, Bradley E Jr, Zacur HA
Fertil Steril 1991 Apr;55(4):733-41. PMID: 2009997
11 Beta-hydroxylase deficiency congenital adrenal hyperplasia: update of prenatal diagnosis.
Rösler A, Weshler N, Leiberman E, Hochberg Z, Weidenfeld J, Sack J, Chemke J
J Clin Endocrinol Metab 1988 Apr;66(4):830-8. doi: 10.1210/jcem-66-4-830. PMID: 3346360

Clinical prediction guides

Low-dose Aspirin may Prevent Preeclampsia by Inhibiting the Expression of ATF2.
Xiao S, Guo L, Zhang M, Hu R, Liu R
Endocr Metab Immune Disord Drug Targets 2023;23(5):702-710. doi: 10.2174/1871530323666221103105349. PMID: 36330631
Prevalence, clinical characteristics and long-term outcomes of classical 11 β-hydroxylase deficiency (11BOHD) in Turkish population and novel mutations in CYP11B1 gene.
Baş F, Toksoy G, Ergun-Longmire B, Uyguner ZO, Abalı ZY, Poyrazoğlu Ş, Karaman V, Avcı Ş, Altunoğlu U, Bundak R, Karaman B, Başaran S, Darendeliler F
J Steroid Biochem Mol Biol 2018 Jul;181:88-97. Epub 2018 Apr 4 doi: 10.1016/j.jsbmb.2018.04.001. PMID: 29626607
Clinical, genetic, and structural basis of congenital adrenal hyperplasia due to 11β-hydroxylase deficiency.
Khattab A, Haider S, Kumar A, Dhawan S, Alam D, Romero R, Burns J, Li D, Estatico J, Rahi S, Fatima S, Alzahrani A, Hafez M, Musa N, Razzghy Azar M, Khaloul N, Gribaa M, Saad A, Charfeddine IB, Bilharinho de Mendonça B, Belgorosky A, Dumic K, Dumic M, Aisenberg J, Kandemir N, Alikasifoglu A, Ozon A, Gonc N, Cheng T, Kuhnle-Krahl U, Cappa M, Holterhus PM, Nour MA, Pacaud D, Holtzman A, Li S, Zaidi M, Yuen T, New MI
Proc Natl Acad Sci U S A 2017 Mar 7;114(10):E1933-E1940. Epub 2017 Feb 22 doi: 10.1073/pnas.1621082114. PMID: 28228528Free PMC Article
11 beta-hydroxylase deficiency in hyperandrogenism.
Azziz R, Boots LR, Parker CR Jr, Bradley E Jr, Zacur HA
Fertil Steril 1991 Apr;55(4):733-41. PMID: 2009997
11 Beta-hydroxylase deficiency congenital adrenal hyperplasia: update of prenatal diagnosis.
Rösler A, Weshler N, Leiberman E, Hochberg Z, Weidenfeld J, Sack J, Chemke J
J Clin Endocrinol Metab 1988 Apr;66(4):830-8. doi: 10.1210/jcem-66-4-830. PMID: 3346360

Supplemental Content

Table of contents

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Related information

    • MeSH
      Related Medical Subject Headings
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...