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GLUCOCORTICOID RESISTANCE, MILD

MedGen UID:
864552
•Concept ID:
C4016115
•
Finding
OMIM®: 138040

Professional guidelines

PubMed

FOXO1 Single-Nucleotide Polymorphisms Are Associated with Bleeding Severity and Sensitivity of Glucocorticoid Treatment of Pediatric Immune Thrombocytopenia.
Xie X, Gu H, Ma J, Fu L, Ma J, Zhang J, Wu R, Chen Z
DNA Cell Biol 2024 Jun;43(6):279-287. Epub 2024 Apr 29 doi: 10.1089/dna.2023.0431. PMID: 38683649

Recent clinical studies

Etiology

FOXO1 Single-Nucleotide Polymorphisms Are Associated with Bleeding Severity and Sensitivity of Glucocorticoid Treatment of Pediatric Immune Thrombocytopenia.
Xie X, Gu H, Ma J, Fu L, Ma J, Zhang J, Wu R, Chen Z
DNA Cell Biol 2024 Jun;43(6):279-287. Epub 2024 Apr 29 doi: 10.1089/dna.2023.0431. PMID: 38683649
Monogenic forms of low-renin hypertension: clinical and molecular insights.
Khandelwal P, Deinum J
Pediatr Nephrol 2022 Jul;37(7):1495-1509. Epub 2021 Aug 20 doi: 10.1007/s00467-021-05246-x. PMID: 34414500
Heritable forms of hypertension.
Vehaskari VM
Pediatr Nephrol 2009 Oct;24(10):1929-37. Epub 2007 Jul 24 doi: 10.1007/s00467-007-0537-8. PMID: 17647025Free PMC Article
Endocrinologic and psychological effects of short-term dexamethasone in anorexia nervosa.
Gordon CM, Emans SJ, DuRant RH, Mantzoros C, Grace E, Harper GP, Majzoub JA
Eat Weight Disord 2000 Sep;5(3):175-82. PMID: 11082797
Cutaneous vasoconstrictor response to glucocorticoids in asthma.
Brown PH, Teelucksingh S, Matusiewicz SP, Greening AP, Crompton GK, Edwards CR
Lancet 1991 Mar 9;337(8741):576-80. doi: 10.1016/0140-6736(91)91639-c. PMID: 1671942

Diagnosis

Monogenic forms of low-renin hypertension: clinical and molecular insights.
Khandelwal P, Deinum J
Pediatr Nephrol 2022 Jul;37(7):1495-1509. Epub 2021 Aug 20 doi: 10.1007/s00467-021-05246-x. PMID: 34414500
The difficulties of pseudo-Cushing's syndrome (or "non-neoplastic hypercortisolism").
Chabre O
Ann Endocrinol (Paris) 2018 Jun;79(3):138-145. Epub 2018 Apr 30 doi: 10.1016/j.ando.2018.04.017. PMID: 29716734
An unexpected, mild phenotype of glucocorticoid resistance associated with glucocorticoid receptor gene mutation case report and review of the literature.
Molnár Á, Patócs A, Likó I, Nyírő G, Rácz K, Tóth M, Sármán B
BMC Med Genet 2018 Mar 6;19(1):37. doi: 10.1186/s12881-018-0552-6. PMID: 29510671Free PMC Article
Heritable forms of hypertension.
Vehaskari VM
Pediatr Nephrol 2009 Oct;24(10):1929-37. Epub 2007 Jul 24 doi: 10.1007/s00467-007-0537-8. PMID: 17647025Free PMC Article
Disorders of mineralocorticoid synthesis.
Connell JM, Fraser R, Davies E
Best Pract Res Clin Endocrinol Metab 2001 Mar;15(1):43-60. doi: 10.1053/beem.2000.0118. PMID: 11469810

Therapy

FOXO1 Single-Nucleotide Polymorphisms Are Associated with Bleeding Severity and Sensitivity of Glucocorticoid Treatment of Pediatric Immune Thrombocytopenia.
Xie X, Gu H, Ma J, Fu L, Ma J, Zhang J, Wu R, Chen Z
DNA Cell Biol 2024 Jun;43(6):279-287. Epub 2024 Apr 29 doi: 10.1089/dna.2023.0431. PMID: 38683649
A novel mutation in the NR3C1 gene associated with reversible glucocorticoid resistance.
Laulhé M, Kuhn E, Bouligand J, Amazit L, Perrot J, Lebigot E, Kamenickỷ P, Lombès M, Fagart J, Viengchareun S, Martinerie L
Eur J Endocrinol 2024 Mar 30;190(4):284-295. doi: 10.1093/ejendo/lvae031. PMID: 38584335
An unexpected, mild phenotype of glucocorticoid resistance associated with glucocorticoid receptor gene mutation case report and review of the literature.
Molnár Á, Patócs A, Likó I, Nyírő G, Rácz K, Tóth M, Sármán B
BMC Med Genet 2018 Mar 6;19(1):37. doi: 10.1186/s12881-018-0552-6. PMID: 29510671Free PMC Article
Familial glucocorticoid resistance caused by a novel frameshift glucocorticoid receptor mutation.
Trebble P, Matthews L, Blaikley J, Wayte AW, Black GC, Wilton A, Ray DW
J Clin Endocrinol Metab 2010 Dec;95(12):E490-9. Epub 2010 Sep 22 doi: 10.1210/jc.2010-0705. PMID: 20861124Free PMC Article
Endocrinologic and psychological effects of short-term dexamethasone in anorexia nervosa.
Gordon CM, Emans SJ, DuRant RH, Mantzoros C, Grace E, Harper GP, Majzoub JA
Eat Weight Disord 2000 Sep;5(3):175-82. PMID: 11082797

Prognosis

Monogenic forms of low-renin hypertension: clinical and molecular insights.
Khandelwal P, Deinum J
Pediatr Nephrol 2022 Jul;37(7):1495-1509. Epub 2021 Aug 20 doi: 10.1007/s00467-021-05246-x. PMID: 34414500
Significant prevalence of NR3C1 mutations in incidentally discovered bilateral adrenal hyperplasia: results of the French MUTA-GR Study.
Vitellius G, Trabado S, Hoeffel C, Bouligand J, Bennet A, Castinetti F, Decoudier B, Guiochon-Mantel A, Lombes M, Delemer B; investigators of the MUTA-GR Study
Eur J Endocrinol 2018 Apr;178(4):411-423. Epub 2018 Feb 14 doi: 10.1530/EJE-17-1071. PMID: 29444898
Familial glucocorticoid resistance caused by a novel frameshift glucocorticoid receptor mutation.
Trebble P, Matthews L, Blaikley J, Wayte AW, Black GC, Wilton A, Ray DW
J Clin Endocrinol Metab 2010 Dec;95(12):E490-9. Epub 2010 Sep 22 doi: 10.1210/jc.2010-0705. PMID: 20861124Free PMC Article
Mental deterioration correlates with response of natural killer (NK) cell activity to physiological modifiers in patients with short history of Alzheimer's disease.
Masera RG, Prolo P, Sartori ML, Staurenghi A, Griot G, Ravizza L, Dovio A, Chiappelli F, Angeli A
Psychoneuroendocrinology 2002 May;27(4):447-61. doi: 10.1016/s0306-4530(01)00062-2. PMID: 11911998

Clinical prediction guides

FOXO1 Single-Nucleotide Polymorphisms Are Associated with Bleeding Severity and Sensitivity of Glucocorticoid Treatment of Pediatric Immune Thrombocytopenia.
Xie X, Gu H, Ma J, Fu L, Ma J, Zhang J, Wu R, Chen Z
DNA Cell Biol 2024 Jun;43(6):279-287. Epub 2024 Apr 29 doi: 10.1089/dna.2023.0431. PMID: 38683649
A novel mutation in the NR3C1 gene associated with reversible glucocorticoid resistance.
Laulhé M, Kuhn E, Bouligand J, Amazit L, Perrot J, Lebigot E, Kamenickỷ P, Lombès M, Fagart J, Viengchareun S, Martinerie L
Eur J Endocrinol 2024 Mar 30;190(4):284-295. doi: 10.1093/ejendo/lvae031. PMID: 38584335
An unexpected, mild phenotype of glucocorticoid resistance associated with glucocorticoid receptor gene mutation case report and review of the literature.
Molnár Á, Patócs A, Likó I, Nyírő G, Rácz K, Tóth M, Sármán B
BMC Med Genet 2018 Mar 6;19(1):37. doi: 10.1186/s12881-018-0552-6. PMID: 29510671Free PMC Article
Familial glucocorticoid resistance caused by a novel frameshift glucocorticoid receptor mutation.
Trebble P, Matthews L, Blaikley J, Wayte AW, Black GC, Wilton A, Ray DW
J Clin Endocrinol Metab 2010 Dec;95(12):E490-9. Epub 2010 Sep 22 doi: 10.1210/jc.2010-0705. PMID: 20861124Free PMC Article
Endocrinologic and psychological effects of short-term dexamethasone in anorexia nervosa.
Gordon CM, Emans SJ, DuRant RH, Mantzoros C, Grace E, Harper GP, Majzoub JA
Eat Weight Disord 2000 Sep;5(3):175-82. PMID: 11082797

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