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Primary cortisol resistance(PCR)

MedGen UID:
443921
•Concept ID:
C2930863
•
Disease or Syndrome
Synonym: PCR

Professional guidelines

PubMed

Glucocorticoids in the Treatment of Glomerular Diseases: Pitfalls and Pearls.
Ponticelli C, Locatelli F
Clin J Am Soc Nephrol 2018 May 7;13(5):815-822. Epub 2018 Feb 23 doi: 10.2215/CJN.12991117. PMID: 29475991Free PMC Article
Latest Insights on the Etiology and Management of Primary Adrenal Insufficiency in Children.
Güran T
J Clin Res Pediatr Endocrinol 2017 Dec 30;9(Suppl 2):9-22. Epub 2017 Dec 27 doi: 10.4274/jcrpe.2017.S002. PMID: 29280740Free PMC Article
Chrousos syndrome: from molecular pathogenesis to therapeutic management.
Nicolaides NC, Charmandari E
Eur J Clin Invest 2015 May;45(5):504-14. Epub 2015 Mar 23 doi: 10.1111/eci.12426. PMID: 25715669

Recent clinical studies

Etiology

The N363S and I559N single nucleotide polymorphisms of the h-GR/NR3C1 gene in patients with bronchial asthma.
Panek M, Pietras T, Antczak A, Fabijan A, Przemęcka M, Górski P, Kuna P, Szemraj J
Int J Mol Med 2012 Jul;30(1):142-50. Epub 2012 Apr 2 doi: 10.3892/ijmm.2012.956. PMID: 22469783
Characterization of two novel mutations in the glucocorticoid receptor gene in patients with primary cortisol resistance.
Ruiz M, Lind U, Gåfvels M, Eggertsen G, Carlstedt-Duke J, Nilsson L, Holtmann M, Stierna P, Wikström AC, Werner S
Clin Endocrinol (Oxf) 2001 Sep;55(3):363-71. doi: 10.1046/j.1365-2265.2001.01323.x. PMID: 11589680

Diagnosis

The N363S and I559N single nucleotide polymorphisms of the h-GR/NR3C1 gene in patients with bronchial asthma.
Panek M, Pietras T, Antczak A, Fabijan A, Przemęcka M, Górski P, Kuna P, Szemraj J
Int J Mol Med 2012 Jul;30(1):142-50. Epub 2012 Apr 2 doi: 10.3892/ijmm.2012.956. PMID: 22469783
Characterization of two novel mutations in the glucocorticoid receptor gene in patients with primary cortisol resistance.
Ruiz M, Lind U, Gåfvels M, Eggertsen G, Carlstedt-Duke J, Nilsson L, Holtmann M, Stierna P, Wikström AC, Werner S
Clin Endocrinol (Oxf) 2001 Sep;55(3):363-71. doi: 10.1046/j.1365-2265.2001.01323.x. PMID: 11589680
In vitro studies of skin fibroblasts from a patient with a new type of primary cortisol resistance: glucocorticoid receptor status and glucocorticoid effect on DNA synthesis.
Gomi M, Iida S, Tsugawa M, Itoh Y, Moriwaki K, Fujii H, Yamashita S, Tamaki T, Tarui S
Horm Metab Res 1987 Jul;19(7):328-30. doi: 10.1055/s-2007-1011813. PMID: 3623423
Primary cortisol resistance associated with a thermolabile glucocorticoid receptor in a patient with fatigue as the only symptom.
Brönnegård M, Werner S, Gustafsson JA
J Clin Invest 1986 Nov;78(5):1270-8. doi: 10.1172/JCI112711. PMID: 3771797Free PMC Article

Therapy

The N363S and I559N single nucleotide polymorphisms of the h-GR/NR3C1 gene in patients with bronchial asthma.
Panek M, Pietras T, Antczak A, Fabijan A, Przemęcka M, Górski P, Kuna P, Szemraj J
Int J Mol Med 2012 Jul;30(1):142-50. Epub 2012 Apr 2 doi: 10.3892/ijmm.2012.956. PMID: 22469783
Primary cortisol resistance presenting as isosexual precocity.
Malchoff CD, Javier EC, Malchoff DM, Martin T, Rogol A, Brandon D, Loriaux DL, Reardon GE
J Clin Endocrinol Metab 1990 Feb;70(2):503-7. doi: 10.1210/jcem-70-2-503. PMID: 2105334
Primary cortisol resistance: a family study.
Chrousos GP, Vingerhoeds AC, Loriaux DL, Lipsett MB
J Clin Endocrinol Metab 1983 Jun;56(6):1243-5. doi: 10.1210/jcem-56-6-1243. PMID: 6841559

Prognosis

A mutation of the glucocorticoid receptor in primary cortisol resistance.
Malchoff DM, Brufsky A, Reardon G, McDermott P, Javier EC, Bergh CH, Rowe D, Malchoff CD
J Clin Invest 1993 May;91(5):1918-25. doi: 10.1172/JCI116410. PMID: 7683692Free PMC Article

Clinical prediction guides

The N363S and I559N single nucleotide polymorphisms of the h-GR/NR3C1 gene in patients with bronchial asthma.
Panek M, Pietras T, Antczak A, Fabijan A, Przemęcka M, Górski P, Kuna P, Szemraj J
Int J Mol Med 2012 Jul;30(1):142-50. Epub 2012 Apr 2 doi: 10.3892/ijmm.2012.956. PMID: 22469783
Genotype-phenotype correlation in a family with primary cortisol resistance: possible modulating effect of the ER22/23EK polymorphism.
Raef H, Baitei EY, Zou M, Shi Y
Eur J Endocrinol 2008 Apr;158(4):577-82. doi: 10.1530/EJE-07-0629. PMID: 18362306
A mutation of the glucocorticoid receptor in primary cortisol resistance.
Malchoff DM, Brufsky A, Reardon G, McDermott P, Javier EC, Bergh CH, Rowe D, Malchoff CD
J Clin Invest 1993 May;91(5):1918-25. doi: 10.1172/JCI116410. PMID: 7683692Free PMC Article
Regulation of glucocorticoid receptor expression in cultured fibroblasts from a patient with familial glucocorticoid resistance.
Brönnegård M, Werner S, Gustafsson JA
J Steroid Biochem Mol Biol 1991 Nov;39(5A):693-701. doi: 10.1016/0960-0760(91)90369-g. PMID: 1659867
The new world primates as animal models of glucocorticoid resistance.
Chrousos GP, Loriaux DL, Tomita M, Brandon DD, Renquist D, Albertson B, Lipsett MB
Adv Exp Med Biol 1986;196:129-44. doi: 10.1007/978-1-4684-5101-6_9. PMID: 3012975

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