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Aldosterone Synthase Deficiency Type 2

MedGen UID:
927519
•Concept ID:
C4289987
•
Disease or Syndrome

Definition

Aldosterone synthase deficiency characterized by decreased conversion of 18-hydroxycorticosterone to aldosterone. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAldosterone Synthase Deficiency Type 2

Recent clinical studies

Etiology

Aldosterone signaling defect in young infants: single-center report and review.
Wijaya M, Ma H, Zhang J, Du M, Li Y, Chen Q, Guo S
BMC Endocr Disord 2021 Jul 9;21(1):149. doi: 10.1186/s12902-021-00811-9. PMID: 34243750Free PMC Article
Tetrahydropyrroloquinolinone type dual inhibitors of aromatase/aldosterone synthase as a novel strategy for breast cancer patients with elevated cardiovascular risks.
Yin L, Hu Q, Hartmann RW
J Med Chem 2013 Jan 24;56(2):460-70. Epub 2013 Jan 3 doi: 10.1021/jm301408t. PMID: 23281812
Therapeutic effect of enhancing endothelial nitric oxide synthase (eNOS) expression and preventing eNOS uncoupling.
Förstermann U, Li H
Br J Pharmacol 2011 Sep;164(2):213-23. doi: 10.1111/j.1476-5381.2010.01196.x. PMID: 21198553Free PMC Article
Effects of sodium depletion on the role of AT1- and alpha-adrenergic receptors in the regulation of forearm vascular tone in humans.
Baan J Jr, Chang PC, Vermeij P, Pfaffendorf M, van Zwieten PA
J Hypertens 1999 Feb;17(2):229-35. doi: 10.1097/00004872-199917020-00007. PMID: 10067792
The constant plasma 18-hydroxycorticosterone to aldosterone ratio: an expression of the efficacy of corticosterone methyloxidase type II activity in disorders with variable aldosterone production.
Kater CE, Biglieri EG, Rost CR, Schambelan M, Hirai J, Chang BC, Brust N
J Clin Endocrinol Metab 1985 Feb;60(2):225-8. doi: 10.1210/jcem-60-2-225. PMID: 2981240

Diagnosis

Aldosterone signaling defect in young infants: single-center report and review.
Wijaya M, Ma H, Zhang J, Du M, Li Y, Chen Q, Guo S
BMC Endocr Disord 2021 Jul 9;21(1):149. doi: 10.1186/s12902-021-00811-9. PMID: 34243750Free PMC Article
Clinical and Genetic Characteristics of Patients with Corticosterone Methyloxidase Deficiency Type 2: Novel Mutations in CYP11B2.
Turan H, Dağdeviren Çakır A, Özer Y, Tarçın G, Özcabi B, Ceylaner S, Ercan O, Evliyaoğlu SO
J Clin Res Pediatr Endocrinol 2021 Jun 2;13(2):232-238. Epub 2020 Jun 16 doi: 10.4274/jcrpe.galenos.2020.2019.0216. PMID: 32539318Free PMC Article
Steroid hormone synthesis in mitochondria.
Miller WL
Mol Cell Endocrinol 2013 Oct 15;379(1-2):62-73. Epub 2013 Apr 28 doi: 10.1016/j.mce.2013.04.014. PMID: 23628605
Aldosterone synthase deficiency type I with no documented homozygous mutations in the CYP11B2 gene.
Wasniewska M, De Luca F, Valenzise M, Lombardo F, De Luca F
Eur J Endocrinol 2001 Jan;144(1):59-62. doi: 10.1530/eje.0.1440059. PMID: 11174838
Hormonal hypertension in children: 11beta-hydroxylase deficiency and apparent mineralocorticoid excess.
Cerame BI, New MI
J Pediatr Endocrinol Metab 2000 Nov-Dec;13(9):1537-47. doi: 10.1515/jpem.2000.13.9.1537. PMID: 11154148

Therapy

Aldosterone signaling defect in young infants: single-center report and review.
Wijaya M, Ma H, Zhang J, Du M, Li Y, Chen Q, Guo S
BMC Endocr Disord 2021 Jul 9;21(1):149. doi: 10.1186/s12902-021-00811-9. PMID: 34243750Free PMC Article
Albuminuria is associated with an increased prostasin in urine while aldosterone has no direct effect on urine and kidney tissue abundance of prostasin.
Oxlund C, Kurt B, Schwarzensteiner I, Hansen MR, Stæhr M, Svenningsen P, Jacobsen IA, Hansen PB, Thuesen AD, Toft A, Hinrichs GR, Bistrup C, Jensen BL
Pflugers Arch 2017 Jun;469(5-6):655-667. Epub 2017 Feb 24 doi: 10.1007/s00424-017-1938-6. PMID: 28233126
Tetrahydropyrroloquinolinone type dual inhibitors of aromatase/aldosterone synthase as a novel strategy for breast cancer patients with elevated cardiovascular risks.
Yin L, Hu Q, Hartmann RW
J Med Chem 2013 Jan 24;56(2):460-70. Epub 2013 Jan 3 doi: 10.1021/jm301408t. PMID: 23281812
Aldosterone synthase deficiency type I with no documented homozygous mutations in the CYP11B2 gene.
Wasniewska M, De Luca F, Valenzise M, Lombardo F, De Luca F
Eur J Endocrinol 2001 Jan;144(1):59-62. doi: 10.1530/eje.0.1440059. PMID: 11174838
Linkage and segregation analysis of HLA and congenital hypoaldosteronism due to corticosterone methyl-oxydase deficiency type I and type II.
de Jongh BM, Veldhuis JD, Drop SL, Nijenhuis LE, Dupont B
Tissue Antigens 1984 Jul;24(1):18-24. doi: 10.1111/j.1399-0039.1984.tb00392.x. PMID: 6592791

Prognosis

Aldosterone signaling defect in young infants: single-center report and review.
Wijaya M, Ma H, Zhang J, Du M, Li Y, Chen Q, Guo S
BMC Endocr Disord 2021 Jul 9;21(1):149. doi: 10.1186/s12902-021-00811-9. PMID: 34243750Free PMC Article
Aldosterone: the minority hormone of the adrenal cortex.
Müller J
Steroids 1995 Jan;60(1):2-9. doi: 10.1016/0039-128x(94)00021-4. PMID: 7792810

Clinical prediction guides

Mineralocorticoid Receptor Antagonists Cause Natriuresis in the Absence of Aldosterone.
Maeoka Y, Su XT, Wang WH, Duan XP, Sharma A, Li N, Staub O, McCormick JA, Ellison DH
Hypertension 2022 Jul;79(7):1423-1434. Epub 2022 May 4 doi: 10.1161/HYPERTENSIONAHA.122.19159. PMID: 35506380Free PMC Article
Corticosterone Methyl Oxidase Deficiency Type 1 with Normokalemia in an Infant.
Üstyol A, Atabek ME, Taylor N, Yeung MC, Chan AO
J Clin Res Pediatr Endocrinol 2016 Sep 1;8(3):356-9. Epub 2016 Apr 29 doi: 10.4274/jcrpe.2824. PMID: 27125267Free PMC Article
Aldosterone synthase deficiency type I with no documented homozygous mutations in the CYP11B2 gene.
Wasniewska M, De Luca F, Valenzise M, Lombardo F, De Luca F
Eur J Endocrinol 2001 Jan;144(1):59-62. doi: 10.1530/eje.0.1440059. PMID: 11174838
Isolated aldosterone synthase deficiency caused by simultaneous E198D and V386A mutations in the CYP11B2 gene.
Portrat-Doyen S, Tourniaire J, Richard O, Mulatero P, Aupetit-Faisant B, Curnow KM, Pascoe L, Morel Y
J Clin Endocrinol Metab 1998 Nov;83(11):4156-61. doi: 10.1210/jcem.83.11.5258. PMID: 9814506
HLA in a selective aldosterone biosynthetic defect due to type 2 corticosterone methyl-oxidase deficiency.
Brautbar C, Theodor R, Sack J, Levene C, Dupont B, Levine LS, Sharon R, Smaller S, Cohen T, Rösler A
Tissue Antigens 1981 Feb;17(2):212-6. doi: 10.1111/j.1399-0039.1981.tb00685.x. PMID: 7233416

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