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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 anomolous response to stimulation by adminstration 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
Confirmed efficacy of etoposide and dexamethasone in HLH treatment: long-term results of the cooperative HLH-2004 study.
Bergsten E, Horne A, Aricó M, Astigarraga I, Egeler RM, Filipovich AH, Ishii E, Janka G, Ladisch S, Lehmberg K, McClain KL, Minkov M, Montgomery S, Nanduri V, Rosso D, Henter JI
Blood 2017 Dec 21;130(25):2728-2738. Epub 2017 Sep 21 doi: 10.1182/blood-2017-06-788349. PMID: 28935695Free PMC Article

Recent clinical studies

Etiology

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
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
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

Diagnosis

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
Eosinophilic esophagitis: Pathophysiology, diagnosis, and management.
Vinit C, Dieme A, Courbage S, Dehaine C, Dufeu CM, Jacquemot S, Lajus M, Montigny L, Payen E, Yang DD, Dupont C
Arch Pediatr 2019 Apr;26(3):182-190. Epub 2019 Mar 1 doi: 10.1016/j.arcped.2019.02.005. PMID: 30827775
Isolated glucocorticoid deficiency: Genetic causes and animal models.
Maharaj A, Maudhoo A, Chan LF, Novoselova T, Prasad R, Metherell LA, Guasti L
J Steroid Biochem Mol Biol 2019 May;189:73-80. Epub 2019 Feb 25 doi: 10.1016/j.jsbmb.2019.02.012. PMID: 30817990
Confirmed efficacy of etoposide and dexamethasone in HLH treatment: long-term results of the cooperative HLH-2004 study.
Bergsten E, Horne A, Aricó M, Astigarraga I, Egeler RM, Filipovich AH, Ishii E, Janka G, Ladisch S, Lehmberg K, McClain KL, Minkov M, Montgomery S, Nanduri V, Rosso D, Henter JI
Blood 2017 Dec 21;130(25):2728-2738. Epub 2017 Sep 21 doi: 10.1182/blood-2017-06-788349. PMID: 28935695Free 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

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
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
JAK/STAT pathway inhibition sensitizes CD8 T cells to dexamethasone-induced apoptosis in hyperinflammation.
Meyer LK, Verbist KC, Albeituni S, Scull BP, Bassett RC, Stroh AN, Tillman H, Allen CE, Hermiston ML, Nichols KE
Blood 2020 Aug 6;136(6):657-668. doi: 10.1182/blood.2020006075. PMID: 32530039Free 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
Eosinophilic esophagitis: Pathophysiology, diagnosis, and management.
Vinit C, Dieme A, Courbage S, Dehaine C, Dufeu CM, Jacquemot S, Lajus M, Montigny L, Payen E, Yang DD, Dupont C
Arch Pediatr 2019 Apr;26(3):182-190. Epub 2019 Mar 1 doi: 10.1016/j.arcped.2019.02.005. PMID: 30827775

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
The endocrinology of sarcopenia and frailty.
Kamwa V, Welch C, Hassan-Smith ZK
Minerva Endocrinol (Torino) 2021 Dec;46(4):453-468. Epub 2020 Dec 17 doi: 10.23736/S2724-6507.20.03198-3. PMID: 33331737
Glucocorticoid-induced osteoporosis.
Reid IR
Baillieres Best Pract Res Clin Endocrinol Metab 2000 Jun;14(2):279-98. doi: 10.1053/beem.2000.0074. PMID: 11035907

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
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
Glucocorticoid-induced osteoporosis.
Reid IR
Baillieres Best Pract Res Clin Endocrinol Metab 2000 Jun;14(2):279-98. doi: 10.1053/beem.2000.0074. PMID: 11035907

Recent systematic reviews

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
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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