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Glucocorticoid deficiency 3(FGD3; GCCD2, FORMERLY; GCCD3)

MedGen UID:
332252
•Concept ID:
C1836621
•
Disease or Syndrome
Synonyms: FAMILIAL GLUCOCORTICOID DEFICIENCY 3; GCCD3
 
Monarch Initiative: MONDO:0012214
OMIM®: 609197

Definition

Familial isolated glucocorticoid deficiency (GCCD) is an adrenocortical failure characterized by very low levels of plasma cortisol despite high levels of plasma adrenocorticotropin (ACTH). Moreover, the adrenal response to ACTH is severely impaired. There is no mineralocorticoid deficiency and the renin-angiotensin system is not affected (summary by Genin et al., 2002). For a general phenotypic description and a discussion of genetic heterogeneity of familial glucocorticoid deficiency, see GCCD1 (202200). [from OMIM]

Clinical features

From HPO
Recurrent hypoglycemia
MedGen UID:
335382
•Concept ID:
C1846288
•
Finding
Recurrent episodes of decreased concentration of glucose in the blood.
See: Feature record | Search on this feature
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 aldosterone concentration
MedGen UID:
208996
•Concept ID:
C0857899
•
Finding
Abnormally reduced levels of aldosterone.
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 circulating renin concentration
MedGen UID:
866691
•Concept ID:
C4021038
•
Finding
A deviation from the normal concentration of renin in the blood, a central hormone in the control of blood pressure and various other physiological functions.
See: Feature record | Search on this feature
Increased circulating ACTH level
MedGen UID:
867375
•Concept ID:
C4021740
•
Finding
An abnormal increased in the concentration of corticotropin, also known as adrenocorticotropic hormone (ACTH), in the blood.
See: Feature record | Search on this feature
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVGlucocorticoid deficiency 3

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
Prevention and Treatment of Glucocorticoid-Induced Osteoporosis in Adults: Consensus Recommendations From the Belgian Bone Club.
Laurent MR, Goemaere S, Verroken C, Bergmann P, Body JJ, Bruyère O, Cavalier E, Rozenberg S, Lapauw B, Gielen E
Front Endocrinol (Lausanne) 2022;13:908727. Epub 2022 Jun 9 doi: 10.3389/fendo.2022.908727. PMID: 35757436Free PMC Article
Guidelines for the diagnosis and management of critical illness-related corticosteroid insufficiency (CIRCI) in critically ill patients (Part I): Society of Critical Care Medicine (SCCM) and European Society of Intensive Care Medicine (ESICM) 2017.
Annane D, Pastores SM, Rochwerg B, Arlt W, Balk RA, Beishuizen A, Briegel J, Carcillo J, Christ-Crain M, Cooper MS, Marik PE, Umberto Meduri G, Olsen KM, Rodgers S, Russell JA, Van den Berghe G
Intensive Care Med 2017 Dec;43(12):1751-1763. Epub 2017 Sep 21 doi: 10.1007/s00134-017-4919-5. PMID: 28940011

Recent clinical studies

Etiology

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
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
Osteoporosis Due to Hormone Imbalance: An Overview of the Effects of Estrogen Deficiency and Glucocorticoid Overuse on Bone Turnover.
Cheng CH, Chen LR, Chen KH
Int J Mol Sci 2022 Jan 25;23(3) doi: 10.3390/ijms23031376. PMID: 35163300Free 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
Management of endocrine disease: Secondary osteoporosis: pathophysiology and management.
Mirza F, Canalis E
Eur J Endocrinol 2015 Sep;173(3):R131-51. Epub 2015 May 13 doi: 10.1530/EJE-15-0118. PMID: 25971649Free PMC Article

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
Adrenocortical hyperplasia: A multifaceted disease.
Bourdeau I, Parisien-La Salle S, Lacroix A
Best Pract Res Clin Endocrinol Metab 2020 May;34(3):101386. Epub 2020 Feb 4 doi: 10.1016/j.beem.2020.101386. PMID: 32115357
Guidelines for the diagnosis and management of critical illness-related corticosteroid insufficiency (CIRCI) in critically ill patients (Part I): Society of Critical Care Medicine (SCCM) and European Society of Intensive Care Medicine (ESICM) 2017.
Annane D, Pastores SM, Rochwerg B, Arlt W, Balk RA, Beishuizen A, Briegel J, Carcillo J, Christ-Crain M, Cooper MS, Marik PE, Umberto Meduri G, Olsen KM, Rodgers S, Russell JA, Van den Berghe G
Intensive Care Med 2017 Dec;43(12):1751-1763. Epub 2017 Sep 21 doi: 10.1007/s00134-017-4919-5. PMID: 28940011
Thrombotic thrombocytopenic purpura.
Kremer Hovinga JA, Coppo P, Lämmle B, Moake JL, Miyata T, Vanhoorelbeke K
Nat Rev Dis Primers 2017 Apr 6;3:17020. doi: 10.1038/nrdp.2017.20. PMID: 28382967
Management of endocrine disease: Secondary osteoporosis: pathophysiology and management.
Mirza F, Canalis E
Eur J Endocrinol 2015 Sep;173(3):R131-51. Epub 2015 May 13 doi: 10.1530/EJE-15-0118. PMID: 25971649Free PMC Article

Therapy

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
Budesonide delayed-release capsules to reduce proteinuria in adults with primary immunoglobulin A nephropathy.
Barratt J, Lafayette RA, Rovin BH, Fellström B
Expert Rev Clin Immunol 2023 Jul-Dec;19(7):699-710. Epub 2023 May 16 doi: 10.1080/1744666X.2023.2206119. PMID: 37103889
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
Thrombotic thrombocytopenic purpura.
Kremer Hovinga JA, Coppo P, Lämmle B, Moake JL, Miyata T, Vanhoorelbeke K
Nat Rev Dis Primers 2017 Apr 6;3:17020. doi: 10.1038/nrdp.2017.20. PMID: 28382967
Management of endocrine disease: Secondary osteoporosis: pathophysiology and management.
Mirza F, Canalis E
Eur J Endocrinol 2015 Sep;173(3):R131-51. Epub 2015 May 13 doi: 10.1530/EJE-15-0118. PMID: 25971649Free PMC Article

Prognosis

Budesonide delayed-release capsules to reduce proteinuria in adults with primary immunoglobulin A nephropathy.
Barratt J, Lafayette RA, Rovin BH, Fellström B
Expert Rev Clin Immunol 2023 Jul-Dec;19(7):699-710. Epub 2023 May 16 doi: 10.1080/1744666X.2023.2206119. PMID: 37103889
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
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
Corticosteroid osteoporosis.
Reid IR, Grey AB
Baillieres Clin Rheumatol 1993 Oct;7(3):573-87. doi: 10.1016/s0950-3579(05)80080-9. PMID: 8293491
Non-Hodgkin's lymphomas.
Haller DG
Med Clin North Am 1984 May;68(3):741-56. doi: 10.1016/s0025-7125(16)31126-9. PMID: 6205233

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
Budesonide delayed-release capsules to reduce proteinuria in adults with primary immunoglobulin A nephropathy.
Barratt J, Lafayette RA, Rovin BH, Fellström B
Expert Rev Clin Immunol 2023 Jul-Dec;19(7):699-710. Epub 2023 May 16 doi: 10.1080/1744666X.2023.2206119. PMID: 37103889
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
Emapalumab in Children with Primary Hemophagocytic Lymphohistiocytosis.
Locatelli F, Jordan MB, Allen C, Cesaro S, Rizzari C, Rao A, Degar B, Garrington TP, Sevilla J, Putti MC, Fagioli F, Ahlmann M, Dapena Diaz JL, Henry M, De Benedetti F, Grom A, Lapeyre G, Jacqmin P, Ballabio M, de Min C
N Engl J Med 2020 May 7;382(19):1811-1822. doi: 10.1056/NEJMoa1911326. PMID: 32374962
ADORA1 Inhibition Promotes Tumor Immune Evasion by Regulating the ATF3-PD-L1 Axis.
Liu H, Kuang X, Zhang Y, Ye Y, Li J, Liang L, Xie Z, Weng L, Guo J, Li H, Ma F, Chen X, Zhao S, Su J, Yang N, Fang F, Xie Y, Tao J, Zhang J, Chen M, Peng C, Sun L, Zhang X, Liu J, Han L, Xu X, Hung MC, Chen X
Cancer Cell 2020 Mar 16;37(3):324-339.e8. doi: 10.1016/j.ccell.2020.02.006. PMID: 32183950

Recent systematic reviews

Hypophysitis in COVID-19: a systematic review.
Menotti S, di Filippo L, Terenzi U, Chiloiro S, De Marinis L
Pituitary 2024 Dec;27(6):874-888. Epub 2024 Oct 15 doi: 10.1007/s11102-024-01462-4. PMID: 39404935
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
Guidelines for the diagnosis and management of critical illness-related corticosteroid insufficiency (CIRCI) in critically ill patients (Part I): Society of Critical Care Medicine (SCCM) and European Society of Intensive Care Medicine (ESICM) 2017.
Annane D, Pastores SM, Rochwerg B, Arlt W, Balk RA, Beishuizen A, Briegel J, Carcillo J, Christ-Crain M, Cooper MS, Marik PE, Umberto Meduri G, Olsen KM, Rodgers S, Russell JA, Van den Berghe G
Intensive Care Med 2017 Dec;43(12):1751-1763. Epub 2017 Sep 21 doi: 10.1007/s00134-017-4919-5. PMID: 28940011
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

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