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Mineralocorticoid deficiency

MedGen UID:
840931
•Concept ID:
C1955743
•
Disease or Syndrome
SNOMED CT: Mineralocorticoid deficiency (7651000119100)

Professional guidelines

PubMed

Catch-up Growth and Discontinuation of Fludrocortisone Treatment in Aldosterone Synthase Deficiency.
Gurpinar Tosun B, Kendir Demirkol Y, Seven Menevse T, Kaygusuz SB, Ozbek MN, Altincik SA, Mammadova J, Cayir A, Doger E, Bayramoglu E, Nalbantoglu O, Yesiltepe Mutlu G, Aghayev A, Turan S, Bereket A, Guran T
J Clin Endocrinol Metab 2022 Jan 1;107(1):e106-e117. doi: 10.1210/clinem/dgab619. PMID: 34415991
Novel insight into etiology, diagnosis and management of primary adrenal insufficiency.
Malikova J, Flück CE
Horm Res Paediatr 2014;82(3):145-57. Epub 2014 Aug 1 doi: 10.1159/000363107. PMID: 25096886
Management of the child with congenital adrenal hyperplasia.
Hindmarsh PC
Best Pract Res Clin Endocrinol Metab 2009 Apr;23(2):193-208. doi: 10.1016/j.beem.2008.10.010. PMID: 19500763

Recent clinical studies

Etiology

Clinical course and endocrine dysfunction in X-linked adrenoleukodystrophy: A case series.
Matos T, Costa C, Araújo AN, do Vale S
Endocrinol Diabetes Nutr (Engl Ed) 2023 Jun-Jul;70(6):421-428. doi: 10.1016/j.endien.2022.01.010. PMID: 37356877
Substitution therapy in adult patients with congenital adrenal hyperplasia.
Reisch N
Best Pract Res Clin Endocrinol Metab 2015 Jan;29(1):33-45. Epub 2014 Nov 14 doi: 10.1016/j.beem.2014.11.002. PMID: 25617171
Mineralocorticoid deficiency in hemorrhagic shock.
Tolstoy NS, Aized M, McMonagle MP, Holena DN, Pascual JL, Sonnad SS, Sims CA
J Surg Res 2013 Apr;180(2):232-7. Epub 2012 May 25 doi: 10.1016/j.jss.2012.05.018. PMID: 22683082Free PMC Article
Hypogonadotropic hypogonadism in subjects with DAX1 mutations.
Jadhav U, Harris RM, Jameson JL
Mol Cell Endocrinol 2011 Oct 22;346(1-2):65-73. Epub 2011 Jun 13 doi: 10.1016/j.mce.2011.04.017. PMID: 21672607Free PMC Article
Monitoring of therapy in congenital adrenal hyperplasia.
Dauber A, Kellogg M, Majzoub JA
Clin Chem 2010 Aug;56(8):1245-51. Epub 2010 Jun 17 doi: 10.1373/clinchem.2010.146035. PMID: 20558634

Diagnosis

An Update on Addison's Disease.
Barthel A, Benker G, Berens K, Diederich S, Manfras B, Gruber M, Kanczkowski W, Kline G, Kamvissi-Lorenz V, Hahner S, Beuschlein F, Brennand A, Boehm BO, Torpy DJ, Bornstein SR
Exp Clin Endocrinol Diabetes 2019 Feb;127(2-03):165-175. Epub 2018 Dec 18 doi: 10.1055/a-0804-2715. PMID: 30562824
Expert opinions on adrenal complications in immunotherapy.
Haissaguerre M, Hescot S, Bertherat J, Chabre O
Ann Endocrinol (Paris) 2018 Oct;79(5):539-544. Epub 2018 Jul 11 doi: 10.1016/j.ando.2018.07.002. PMID: 30149891
Genetic forms of adrenal insufficiency.
Brett EM, Auchus RJ
Endocr Pract 2015 Apr;21(4):395-9. Epub 2015 Feb 9 doi: 10.4158/EP14503.RA. PMID: 25667374
Addison's disease.
Nieman LK, Chanco Turner ML
Clin Dermatol 2006 Jul-Aug;24(4):276-80. doi: 10.1016/j.clindermatol.2006.04.006. PMID: 16828409
Mutations in steroid 21-hydroxylase (CYP21).
White PC, Tusie-Luna MT, New MI, Speiser PW
Hum Mutat 1994;3(4):373-8. doi: 10.1002/humu.1380030408. PMID: 8081391

Therapy

Congenital Adrenal Hyperplasia: Time to Replace 17OHP with 21-Deoxycortisol.
Miller WL
Horm Res Paediatr 2019;91(6):416-420. Epub 2019 Aug 26 doi: 10.1159/000501396. PMID: 31450227
Expert opinions on adrenal complications in immunotherapy.
Haissaguerre M, Hescot S, Bertherat J, Chabre O
Ann Endocrinol (Paris) 2018 Oct;79(5):539-544. Epub 2018 Jul 11 doi: 10.1016/j.ando.2018.07.002. PMID: 30149891
Substitution therapy in adult patients with congenital adrenal hyperplasia.
Reisch N
Best Pract Res Clin Endocrinol Metab 2015 Jan;29(1):33-45. Epub 2014 Nov 14 doi: 10.1016/j.beem.2014.11.002. PMID: 25617171
Mineralocorticoid substitution and monitoring in primary adrenal insufficiency.
Quinkler M, Oelkers W, Remde H, Allolio B
Best Pract Res Clin Endocrinol Metab 2015 Jan;29(1):17-24. Epub 2014 Aug 27 doi: 10.1016/j.beem.2014.08.008. PMID: 25617169
Addison's disease.
Nieman LK, Chanco Turner ML
Clin Dermatol 2006 Jul-Aug;24(4):276-80. doi: 10.1016/j.clindermatol.2006.04.006. PMID: 16828409

Prognosis

Clinical course and endocrine dysfunction in X-linked adrenoleukodystrophy: A case series.
Matos T, Costa C, Araújo AN, do Vale S
Endocrinol Diabetes Nutr (Engl Ed) 2023 Jun-Jul;70(6):421-428. doi: 10.1016/j.endien.2022.01.010. PMID: 37356877
Radiation of bilateral adrenal metastases is associated with a high risk of primary adrenal insufficiency.
Herndon J, Hallemeier C, Jethwa K, Shariff A, Bancos I
Clin Endocrinol (Oxf) 2023 Jul;99(1):35-42. Epub 2023 Mar 16 doi: 10.1111/cen.14911. PMID: 36905107Free PMC Article
Catch-up Growth and Discontinuation of Fludrocortisone Treatment in Aldosterone Synthase Deficiency.
Gurpinar Tosun B, Kendir Demirkol Y, Seven Menevse T, Kaygusuz SB, Ozbek MN, Altincik SA, Mammadova J, Cayir A, Doger E, Bayramoglu E, Nalbantoglu O, Yesiltepe Mutlu G, Aghayev A, Turan S, Bereket A, Guran T
J Clin Endocrinol Metab 2022 Jan 1;107(1):e106-e117. doi: 10.1210/clinem/dgab619. PMID: 34415991
Perioperative management of patients treated with glucocorticoids.
Axelrod L
Endocrinol Metab Clin North Am 2003 Jun;32(2):367-83. doi: 10.1016/s0889-8529(03)00008-2. PMID: 12800537
Isolated glucocorticoid deficiency and ACTH receptor mutations.
Tsigos C
Arch Med Res 1999 Nov-Dec;30(6):475-80. doi: 10.1016/s0188-0128(99)00057-3. PMID: 10714360

Clinical prediction guides

Growth alterations in rare forms of primary adrenal insufficiency: a neglected issue in paediatric endocrinology.
Ferrigno R, Cioffi D, Pellino V, Savanelli MC, Klain A
Endocrine 2023 Apr;80(1):1-9. Epub 2022 Oct 30 doi: 10.1007/s12020-022-03236-z. PMID: 36309634
Markers of mineralocorticoid receptor function: changes over time and relationship to response in patients with major depression.
Murck H, Braunisch MC, Konrad C, Jezova D, Kircher T
Int Clin Psychopharmacol 2019 Jan;34(1):18-26. doi: 10.1097/YIC.0000000000000239. PMID: 30300165
Mineralocorticoid deficiency in hemorrhagic shock.
Tolstoy NS, Aized M, McMonagle MP, Holena DN, Pascual JL, Sonnad SS, Sims CA
J Surg Res 2013 Apr;180(2):232-7. Epub 2012 May 25 doi: 10.1016/j.jss.2012.05.018. PMID: 22683082Free PMC Article
The utility of the transtubular potassium gradient in the evaluation of hyperkalemia.
Choi MJ, Ziyadeh FN
J Am Soc Nephrol 2008 Mar;19(3):424-6. Epub 2008 Jan 23 doi: 10.1681/ASN.2007091017. PMID: 18216310
Mutations in steroid 21-hydroxylase (CYP21).
White PC, Tusie-Luna MT, New MI, Speiser PW
Hum Mutat 1994;3(4):373-8. doi: 10.1002/humu.1380030408. PMID: 8081391

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