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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

Clinical and molecular characterization of 10 Chinese children with congenital adrenal hyperplasia due to 11beta-hydroxylase deficiency.
Lu WL, Ma XY, Zhang J, Wang JQ, Zhang TT, Ye L, Xiao Y, Dong ZY, Wang W, Sun SY, Li CY, Hu RG, Ning G, Zhang LD
World J Pediatr 2024 Apr;20(4):422-433. Epub 2023 Jul 24 doi: 10.1007/s12519-023-00739-1. PMID: 37486441Free 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
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

Case Report: A combination of chimeric CYP11B2/CYP11B1 and a novel p.Val68Gly CYP11B1 variant causing 11β-Hydroxylase deficiency in a Chinese patient.
Li J, Zhang F, Xu M, Qiu H, Zhou C, Li L, Qin L
Front Endocrinol (Lausanne) 2023;14:1216767. Epub 2023 Nov 13 doi: 10.3389/fendo.2023.1216767. PMID: 38027139Free 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
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-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

Therapy

Mineralocorticoid receptor antagonist monotherapy in pediatric non-classical 11β-hydroxylase deficiency.
Kennedy EC, Stack M, Carolan E, Durkan M, Joyce CM, Hawkes CP
J Pediatr Endocrinol Metab 2024 Dec 17;37(12):1100-1103. Epub 2024 Sep 20 doi: 10.1515/jpem-2024-0194. PMID: 39295130
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

Mineralocorticoid receptor antagonist monotherapy in pediatric non-classical 11β-hydroxylase deficiency.
Kennedy EC, Stack M, Carolan E, Durkan M, Joyce CM, Hawkes CP
J Pediatr Endocrinol Metab 2024 Dec 17;37(12):1100-1103. Epub 2024 Sep 20 doi: 10.1515/jpem-2024-0194. PMID: 39295130
Clinical and molecular characterization of 10 Chinese children with congenital adrenal hyperplasia due to 11beta-hydroxylase deficiency.
Lu WL, Ma XY, Zhang J, Wang JQ, Zhang TT, Ye L, Xiao Y, Dong ZY, Wang W, Sun SY, Li CY, Hu RG, Ning G, Zhang LD
World J Pediatr 2024 Apr;20(4):422-433. Epub 2023 Jul 24 doi: 10.1007/s12519-023-00739-1. PMID: 37486441Free 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
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

Clinical prediction guides

Clinical and molecular characterization of 10 Chinese children with congenital adrenal hyperplasia due to 11beta-hydroxylase deficiency.
Lu WL, Ma XY, Zhang J, Wang JQ, Zhang TT, Ye L, Xiao Y, Dong ZY, Wang W, Sun SY, Li CY, Hu RG, Ning G, Zhang LD
World J Pediatr 2024 Apr;20(4):422-433. Epub 2023 Jul 24 doi: 10.1007/s12519-023-00739-1. PMID: 37486441Free 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
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
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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