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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

EULAR/PReS recommendations for the diagnosis and management of Still's disease, comprising systemic juvenile idiopathic arthritis and adult-onset Still's disease.
Fautrel B, Mitrovic S, De Matteis A, Bindoli S, Antón J, Belot A, Bracaglia C, Constantin T, Dagna L, Di Bartolo A, Feist E, Foell D, Gattorno M, Georgin-Lavialle S, Giacomelli R, Grom AA, Jamilloux Y, Laskari K, Lazar C, Minoia F, Nigrovic PA, Oliveira Ramos F, Ozen S, Quartier P, Ruscitti P, Sag E, Savic S, Truchetet ME, Vastert SJ, Wilhelmer TC, Wouters C, Carmona L, De Benedetti F
Ann Rheum Dis 2024 Nov 14;83(12):1614-1627. doi: 10.1136/ard-2024-225851. PMID: 39317417Free PMC Article
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

Recent clinical studies

Etiology

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
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
Should Dehydroepiandrosterone Be Administered to Women?
Wierman ME, Kiseljak-Vassiliades K
J Clin Endocrinol Metab 2022 May 17;107(6):1679-1685. doi: 10.1210/clinem/dgac130. PMID: 35254428Free PMC Article
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
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

EULAR/PReS recommendations for the diagnosis and management of Still's disease, comprising systemic juvenile idiopathic arthritis and adult-onset Still's disease.
Fautrel B, Mitrovic S, De Matteis A, Bindoli S, Antón J, Belot A, Bracaglia C, Constantin T, Dagna L, Di Bartolo A, Feist E, Foell D, Gattorno M, Georgin-Lavialle S, Giacomelli R, Grom AA, Jamilloux Y, Laskari K, Lazar C, Minoia F, Nigrovic PA, Oliveira Ramos F, Ozen S, Quartier P, Ruscitti P, Sag E, Savic S, Truchetet ME, Vastert SJ, Wilhelmer TC, Wouters C, Carmona L, De Benedetti F
Ann Rheum Dis 2024 Nov 14;83(12):1614-1627. doi: 10.1136/ard-2024-225851. PMID: 39317417Free PMC Article
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
Chediak Higashi Syndrome with Hemophagocytic Lymphohistiocytosis.
Safavi M, Parvaneh N
Fetal Pediatr Pathol 2023 Apr;42(2):259-262. Epub 2022 May 24 doi: 10.1080/15513815.2022.2077489. PMID: 35608383
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
Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment.
Ashraf S, Kudo H, Rao J, Kikuchi A, Widmeier E, Lawson JA, Tan W, Hermle T, Warejko JK, Shril S, Airik M, Jobst-Schwan T, Lovric S, Braun DA, Gee HY, Schapiro D, Majmundar AJ, Sadowski CE, Pabst WL, Daga A, van der Ven AT, Schmidt JM, Low BC, Gupta AB, Tripathi BK, Wong J, Campbell K, Metcalfe K, Schanze D, Niihori T, Kaito H, Nozu K, Tsukaguchi H, Tanaka R, Hamahira K, Kobayashi Y, Takizawa T, Funayama R, Nakayama K, Aoki Y, Kumagai N, Iijima K, Fehrenbach H, Kari JA, El Desoky S, Jalalah S, Bogdanovic R, Stajić N, Zappel H, Rakhmetova A, Wassmer SR, Jungraithmayr T, Strehlau J, Kumar AS, Bagga A, Soliman NA, Mane SM, Kaufman L, Lowy DR, Jairajpuri MA, Lifton RP, Pei Y, Zenker M, Kure S, Hildebrandt F
Nat Commun 2018 May 17;9(1):1960. doi: 10.1038/s41467-018-04193-w. PMID: 29773874Free PMC Article

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
Should Dehydroepiandrosterone Be Administered to Women?
Wierman ME, Kiseljak-Vassiliades K
J Clin Endocrinol Metab 2022 May 17;107(6):1679-1685. doi: 10.1210/clinem/dgac130. PMID: 35254428Free PMC Article
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
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
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

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
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

Clinical prediction guides

Common Oral Conditions: A Review.
Stoopler ET, Villa A, Bindakhil M, Díaz DLO, Sollecito TP
JAMA 2024 Mar 26;331(12):1045-1054. doi: 10.1001/jama.2024.0953. PMID: 38530258
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
Should Dehydroepiandrosterone Be Administered to Women?
Wierman ME, Kiseljak-Vassiliades K
J Clin Endocrinol Metab 2022 May 17;107(6):1679-1685. doi: 10.1210/clinem/dgac130. PMID: 35254428Free PMC Article
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
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
Cortisol Levels During Acute Illnesses in Children and Adolescents: A Systematic Review.
Rezai M, Fullwood C, Hird B, Chawla M, Tetlow L, Banerjee I, Patel L
JAMA Netw Open 2022 Jun 1;5(6):e2217812. doi: 10.1001/jamanetworkopen.2022.17812. PMID: 35731516Free PMC Article
Pyoderma gangrenosum after breast surgery: A systematic review.
Ehrl DC, Heidekrueger PI, Broer PN
J Plast Reconstr Aesthet Surg 2018 Jul;71(7):1023-1032. Epub 2018 Mar 28 doi: 10.1016/j.bjps.2018.03.013. PMID: 29748073
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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      Clinical tests in GTR
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      OMIM records containing genes associated with phenotypes registered in MedGen
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