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Glucocorticoid deficiency 5(GCCD5)

MedGen UID:
1614419
•Concept ID:
C4540522
•
Disease or Syndrome
Synonyms: GCCD5; GLUCOCORTICOID DEFICIENCY 5
 
Gene (location): TXNRD2 (22q11.21)
 
Monarch Initiative: MONDO:0040502
OMIM®: 617825

Definition

Familial glucocorticoid deficiency-5 (GCCD5) is characterized by resistance to adrenocorticotropic hormone (ACTH) and isolated glucocorticoid deficiency, with typical biochemical findings of low serum cortisol levels and high plasma ACTH. Patients commonly present with hyperpigmentation (Prasad et al., 2014). For a discussion of genetic heterogeneity of familial glucocorticoid deficiency, see GCCD1 (202200). [from OMIM]

Clinical features

From HPO
Hyperpigmentation of the skin
MedGen UID:
57992
•Concept ID:
C0162834
•
Pathologic Function
A darkening of the skin related to an increase in melanin production and deposition.
See: Feature record | Search on this feature
Decreased circulating cortisol level
MedGen UID:
322961
•Concept ID:
C1836623
•
Finding
Abnormally reduced concentration of cortisol in the blood.
See: Feature record | Search on this feature
Abnormal response to ACTH stimulation test
MedGen UID:
1392823
•Concept ID:
C4476953
•
Finding
An anomalous response to stimulation by administration of the adrenocorticotropic hormone (ACTH). ACTH stimulation normally stimulates the adrenal glands to release cortisol and adrenaline.
See: Feature record | Search on this feature
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Professional guidelines

PubMed

AGA Clinical Practice Update on Management of Refractory Celiac Disease: Expert Review.
Green PHR, Paski S, Ko CW, Rubio-Tapia A
Gastroenterology 2022 Nov;163(5):1461-1469. Epub 2022 Sep 19 doi: 10.1053/j.gastro.2022.07.086. PMID: 36137844
The 2021 European Group on Graves' orbitopathy (EUGOGO) clinical practice guidelines for the medical management of Graves' orbitopathy.
Bartalena L, Kahaly GJ, Baldeschi L, Dayan CM, Eckstein A, Marcocci C, Marinò M, Vaidya B, Wiersinga WM; EUGOGO †
Eur J Endocrinol 2021 Aug 27;185(4):G43-G67. doi: 10.1530/EJE-21-0479. PMID: 34297684
Guidelines for the management of glucocorticoids during the peri-operative period for patients with adrenal insufficiency: Guidelines from the Association of Anaesthetists, the Royal College of Physicians and the Society for Endocrinology UK.
Woodcock T, Barker P, Daniel S, Fletcher S, Wass JAH, Tomlinson JW, Misra U, Dattani M, Arlt W, Vercueil A
Anaesthesia 2020 May;75(5):654-663. Epub 2020 Feb 3 doi: 10.1111/anae.14963. PMID: 32017012

Recent clinical studies

Etiology

Cardio-metabolic pathophysiology in mild glucocorticoid excess: Potential implications for management of adrenal incidentaloma.
Chen AX, Burt MG
Clin Endocrinol (Oxf) 2023 Feb;98(2):153-164. Epub 2022 Dec 18 doi: 10.1111/cen.14850. PMID: 36367077
Risk factors for osteoporosis and fractures in rheumatoid arthritis.
Baker R, Narla R, Baker JF, Wysham KD
Best Pract Res Clin Rheumatol 2022 Sep;36(3):101773. Epub 2022 Oct 5 doi: 10.1016/j.berh.2022.101773. PMID: 36208961
How I treat immune-mediated thrombotic thrombocytopenic purpura after hospital discharge.
Akwaa F, Antun A, Cataland SR
Blood 2022 Aug 4;140(5):438-444. doi: 10.1182/blood.2021014514. PMID: 35667044
Sodium chloride drives autoimmune disease by the induction of pathogenic TH17 cells.
Kleinewietfeld M, Manzel A, Titze J, Kvakan H, Yosef N, Linker RA, Muller DN, Hafler DA
Nature 2013 Apr 25;496(7446):518-22. Epub 2013 Mar 6 doi: 10.1038/nature11868. PMID: 23467095Free PMC Article
Hyaline membrane disease.
Farrell PM, Avery ME
Am Rev Respir Dis 1975 May;111(5):657-88. doi: 10.1164/arrd.1975.111.5.657. PMID: 1093459

Diagnosis

Single-dose rituximab plus glucocorticoid versus cyclophosphamide plus glucocorticoid in patients with newly diagnosed acquired hemophilia A: A multicenter, open-label, randomized noninferiority trial.
Wang P, Zhou R, Xue F, Zhou H, Bai J, Wang X, Ma Y, Song Z, Chen Y, Liu X, Fu R, Sun T, Ju M, Dai X, Dong H, Yang R, Liu W, Zhang L
Am J Hematol 2024 Jan;99(1):28-37. Epub 2023 Oct 18 doi: 10.1002/ajh.27128. PMID: 37851608
X-linked adrenoleukodystrophy and primary adrenal insufficiency.
Cappa M, Todisco T, Bizzarri C
Front Endocrinol (Lausanne) 2023;14:1309053. Epub 2023 Nov 16 doi: 10.3389/fendo.2023.1309053. PMID: 38034003Free PMC Article
Critical illness-related corticosteroid insufficiency in children.
Levy-Shraga Y, Pinhas-Hamiel O
Horm Res Paediatr 2013;80(5):309-17. Epub 2013 Nov 7 doi: 10.1159/000354759. PMID: 24217117
Genetics of hypertensive syndrome.
Martinez-Aguayo A, Fardella C
Horm Res 2009;71(5):253-9. Epub 2009 Apr 1 doi: 10.1159/000208798. PMID: 19339789
Hyaline membrane disease.
Farrell PM, Avery ME
Am Rev Respir Dis 1975 May;111(5):657-88. doi: 10.1164/arrd.1975.111.5.657. PMID: 1093459

Therapy

X-linked adrenoleukodystrophy and primary adrenal insufficiency.
Cappa M, Todisco T, Bizzarri C
Front Endocrinol (Lausanne) 2023;14:1309053. Epub 2023 Nov 16 doi: 10.3389/fendo.2023.1309053. PMID: 38034003Free PMC Article
Cardio-metabolic pathophysiology in mild glucocorticoid excess: Potential implications for management of adrenal incidentaloma.
Chen AX, Burt MG
Clin Endocrinol (Oxf) 2023 Feb;98(2):153-164. Epub 2022 Dec 18 doi: 10.1111/cen.14850. PMID: 36367077
Modified-Release Hydrocortisone in Congenital Adrenal Hyperplasia.
Merke DP, Mallappa A, Arlt W, Brac de la Perriere A, Lindén Hirschberg A, Juul A, Newell-Price J, Perry CG, Prete A, Rees DA, Reisch N, Stikkelbroeck N, Touraine P, Maltby K, Treasure FP, Porter J, Ross RJ
J Clin Endocrinol Metab 2021 Apr 23;106(5):e2063-e2077. doi: 10.1210/clinem/dgab051. PMID: 33527139Free PMC Article
A review of drug-induced hypocalcemia.
Liamis G, Milionis HJ, Elisaf M
J Bone Miner Metab 2009;27(6):635-42. doi: 10.1007/s00774-009-0119-x. PMID: 19730969
Hyaline membrane disease.
Farrell PM, Avery ME
Am Rev Respir Dis 1975 May;111(5):657-88. doi: 10.1164/arrd.1975.111.5.657. PMID: 1093459

Prognosis

The 2021 European Group on Graves' orbitopathy (EUGOGO) clinical practice guidelines for the medical management of Graves' orbitopathy.
Bartalena L, Kahaly GJ, Baldeschi L, Dayan CM, Eckstein A, Marcocci C, Marinò M, Vaidya B, Wiersinga WM; EUGOGO †
Eur J Endocrinol 2021 Aug 27;185(4):G43-G67. doi: 10.1530/EJE-21-0479. PMID: 34297684
Modified-Release Hydrocortisone in Congenital Adrenal Hyperplasia.
Merke DP, Mallappa A, Arlt W, Brac de la Perriere A, Lindén Hirschberg A, Juul A, Newell-Price J, Perry CG, Prete A, Rees DA, Reisch N, Stikkelbroeck N, Touraine P, Maltby K, Treasure FP, Porter J, Ross RJ
J Clin Endocrinol Metab 2021 Apr 23;106(5):e2063-e2077. doi: 10.1210/clinem/dgab051. PMID: 33527139Free PMC Article
Primary antiphospholipid syndrome, Addison disease, and adrenal incidentaloma.
Medina G, Jiménez-Arellano MP, Muñoz-Solís A, Servín-Torres E, Ramírez-Mendoza P, Jara LJ
Clin Rheumatol 2020 Jun;39(6):1997-2001. Epub 2020 Mar 7 doi: 10.1007/s10067-020-04978-9. PMID: 32146613
A review of drug-induced hypocalcemia.
Liamis G, Milionis HJ, Elisaf M
J Bone Miner Metab 2009;27(6):635-42. doi: 10.1007/s00774-009-0119-x. PMID: 19730969
Hyaline membrane disease.
Farrell PM, Avery ME
Am Rev Respir Dis 1975 May;111(5):657-88. doi: 10.1164/arrd.1975.111.5.657. PMID: 1093459

Clinical prediction guides

X-linked adrenoleukodystrophy and primary adrenal insufficiency.
Cappa M, Todisco T, Bizzarri C
Front Endocrinol (Lausanne) 2023;14:1309053. Epub 2023 Nov 16 doi: 10.3389/fendo.2023.1309053. PMID: 38034003Free PMC Article
How I treat immune-mediated thrombotic thrombocytopenic purpura after hospital discharge.
Akwaa F, Antun A, Cataland SR
Blood 2022 Aug 4;140(5):438-444. doi: 10.1182/blood.2021014514. PMID: 35667044
Glucocorticoids and the regulation of growth hormone secretion.
Mazziotti G, Giustina A
Nat Rev Endocrinol 2013 May;9(5):265-76. Epub 2013 Feb 5 doi: 10.1038/nrendo.2013.5. PMID: 23381030
A review of drug-induced hypocalcemia.
Liamis G, Milionis HJ, Elisaf M
J Bone Miner Metab 2009;27(6):635-42. doi: 10.1007/s00774-009-0119-x. PMID: 19730969
Hyaline membrane disease.
Farrell PM, Avery ME
Am Rev Respir Dis 1975 May;111(5):657-88. doi: 10.1164/arrd.1975.111.5.657. PMID: 1093459

Recent systematic reviews

Getting pregnant with congenital adrenal hyperplasia: Assisted reproduction and pregnancy complications. A systematic review and meta-analysis.
Guo X, Zhang Y, Yu Y, Zhang L, Ullah K, Ji M, Jin B, Shu J
Front Endocrinol (Lausanne) 2022;13:982953. Epub 2022 Aug 31 doi: 10.3389/fendo.2022.982953. PMID: 36120452Free PMC Article
Osmotic therapies added to antibiotics for acute bacterial meningitis.
Wall EC, Ajdukiewicz KM, Bergman H, Heyderman RS, Garner P
Cochrane Database Syst Rev 2018 Feb 6;2(2):CD008806. doi: 10.1002/14651858.CD008806.pub3. PMID: 29405037Free PMC Article
Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency revisited: an update with a special focus on adolescent and adult women.
Carmina E, Dewailly D, Escobar-Morreale HF, Kelestimur F, Moran C, Oberfield S, Witchel SF, Azziz R
Hum Reprod Update 2017 Sep 1;23(5):580-599. doi: 10.1093/humupd/dmx014. PMID: 28582566
Pituitary dysfunction in granulomatosis with polyangiitis.
Esposito D, Trimpou P, Giugliano D, Dehlin M, Ragnarsson O
Pituitary 2017 Oct;20(5):594-601. doi: 10.1007/s11102-017-0811-0. PMID: 28540625Free 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

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