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Increased urinary 11-deoxytetrahydrocorticosterone level

MedGen UID:
1706125
•Concept ID:
C5139273
•
Finding
HPO: HP:0032331

Definition

An abnormally elevated concentration or amount of 11-deoxytetrahydrocorticosterone the urine. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVIncreased urinary 11-deoxytetrahydrocorticosterone level

Professional guidelines

PubMed

Challenges in the treatment of late-identified untreated congenital adrenal hyperplasia due to CYP11B1 deficiency: Lessons from a developing country.
Utari A, Faradz SMH, Ediati A, Rinne T, Ariani MD, Juniarto AZ, Drop SLS, van Herwaarden AE, Claahsen-van der Grinten HL
Front Endocrinol (Lausanne) 2022;13:1015973. Epub 2022 Dec 15 doi: 10.3389/fendo.2022.1015973. PMID: 36589846Free PMC Article
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
11-deoxycortisol in amniotic fluid: prenatal diagnosis of congenital adrenal hyperplasia due to 11 beta-hydroxylase deficiency.
Schumert Z, Rosenmann A, Landau H, Rösler A
Clin Endocrinol (Oxf) 1980 Mar;12(3):257-60. doi: 10.1111/j.1365-2265.1980.tb02708.x. PMID: 6966984

Recent clinical studies

Etiology

Challenges in the treatment of late-identified untreated congenital adrenal hyperplasia due to CYP11B1 deficiency: Lessons from a developing country.
Utari A, Faradz SMH, Ediati A, Rinne T, Ariani MD, Juniarto AZ, Drop SLS, van Herwaarden AE, Claahsen-van der Grinten HL
Front Endocrinol (Lausanne) 2022;13:1015973. Epub 2022 Dec 15 doi: 10.3389/fendo.2022.1015973. PMID: 36589846Free 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
Testicular adrenal rest tumors in congenital adrenal hyperplasia-cross-sectional study of 51 Croatian male patients.
Dumic M, Duspara V, Grubic Z, Oguic SK, Skrabic V, Kusec V
Eur J Pediatr 2017 Oct;176(10):1393-1404. Epub 2017 Sep 6 doi: 10.1007/s00431-017-3008-7. PMID: 28879515
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

Diagnosis

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
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 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
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

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
Challenges in the treatment of late-identified untreated congenital adrenal hyperplasia due to CYP11B1 deficiency: Lessons from a developing country.
Utari A, Faradz SMH, Ediati A, Rinne T, Ariani MD, Juniarto AZ, Drop SLS, van Herwaarden AE, Claahsen-van der Grinten HL
Front Endocrinol (Lausanne) 2022;13:1015973. Epub 2022 Dec 15 doi: 10.3389/fendo.2022.1015973. PMID: 36589846Free 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
Differentiating 11β-hydroxylase deficiency from primary glucocorticoid resistance syndrome in male precocity: real challenge in low-income countries.
Majumder S, Chakraborty PP, Ghosh PC, Bera M
BMJ Case Rep 2020 Feb 28;13(2) doi: 10.1136/bcr-2019-233722. PMID: 32114497Free 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

Prognosis

Compound heterozygosity of a novel Q73X mutation and a known R141X mutation in CYP11B1 resulting in 11β-hydroxylase deficiency in a Chinese boy with congenital adrenal hyperplasia.
Wei C, Zhang Z, Sang M, Dai H, Yang T, Sun M
J Steroid Biochem Mol Biol 2021 Jul;211:105882. Epub 2021 Mar 27 doi: 10.1016/j.jsbmb.2021.105882. PMID: 33785438
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
Neonatal salt-wasting and 11 beta-hydroxylase deficiency in a child carrying a homozygous deletion hybrid CYP11B2 (aldosterone synthase)-CYP11B1 (11 beta-hydroxylase).
Ezquieta B, Luzuriaga C
Clin Genet 2004 Sep;66(3):229-35. doi: 10.1111/j.1399-0004.2004.00291.x. PMID: 15324322

Clinical prediction guides

Differentiating 11β-hydroxylase deficiency from primary glucocorticoid resistance syndrome in male precocity: real challenge in low-income countries.
Majumder S, Chakraborty PP, Ghosh PC, Bera M
BMJ Case Rep 2020 Feb 28;13(2) doi: 10.1136/bcr-2019-233722. PMID: 32114497Free 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
Neonatal salt-wasting and 11 beta-hydroxylase deficiency in a child carrying a homozygous deletion hybrid CYP11B2 (aldosterone synthase)-CYP11B1 (11 beta-hydroxylase).
Ezquieta B, Luzuriaga C
Clin Genet 2004 Sep;66(3):229-35. doi: 10.1111/j.1399-0004.2004.00291.x. PMID: 15324322
Clinical variability of congenital adrenal hyperplasia due to 11 beta-hydroxylase deficiency.
Rösler A, Leiberman E, Sack J, Landau H, Benderly A, Moses SW, Cohen T
Horm Res 1982;16(3):133-41. doi: 10.1159/000179494. PMID: 7049883

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