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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 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 level

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

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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Abnormality of metabolism/homeostasis
- Recurrent hypoglycemia
Abnormality of the endocrine system
Abnormality of the integument
- Hyperpigmentation of the skin

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVGlucocorticoid deficiency 3

Pathological Conditions, Signs and Symptoms
- Clinical finding
  - Finding by Site or System
    - Endocrine finding
      - Hormone abnormality
        Familial glucocorticoid deficiency
        Glucocorticoid 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: 35757436 Free 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

See all (103)

Recent clinical studies

Etiology

Prevention and Treatment of Glucocorticoid-Induced Osteoporosis in Adults: Consensus Recommendations From the Belgian Bone Club.

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: 35163300 Free 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: 33527139 Free 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

Intravenous immunoglobulin: adverse effects and safe administration.

Orbach H, Katz U, Sherer Y, Shoenfeld Y
Clin Rev Allergy Immunol 2005 Dec;29(3):173-84. doi: 10.1385/CRIAI:29:3:173. PMID: 16391392

See all (550)

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

Crinecerfont Lowers Elevated Hormone Markers in Adults With 21-Hydroxylase Deficiency Congenital Adrenal Hyperplasia.

Auchus RJ, Sarafoglou K, Fechner PY, Vogiatzi MG, Imel EA, Davis SM, Giri N, Sturgeon J, Roberts E, Chan JL, Farber RH
J Clin Endocrinol Metab 2022 Feb 17;107(3):801-812. doi: 10.1210/clinem/dgab749. PMID: 34653252 Free 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: 25971649 Free PMC Article

See all (557)

Therapy

Prevention and Treatment of Glucocorticoid-Induced Osteoporosis in Adults: Consensus Recommendations From the Belgian Bone Club.

Novel treatments for congenital adrenal hyperplasia.

Schröder MAM, Claahsen-van der Grinten HL
Rev Endocr Metab Disord 2022 Jun;23(3):631-645. Epub 2022 Feb 23 doi: 10.1007/s11154-022-09717-w. PMID: 35199280 Free PMC Article

Modified-Release Hydrocortisone in Congenital Adrenal Hyperplasia.

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: 25971649 Free PMC Article

See all (810)

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

Patient-Centered Diabetes Care of Cancer Patients.

Kotwal A, Cheung YM, Cromwell G, Drincic A, Leblebjian H, Quandt Z, Rushakoff RJ, McDonnell ME
Curr Diab Rep 2021 Dec 13;21(12):62. doi: 10.1007/s11892-021-01435-y. PMID: 34902069

Modified-Release Hydrocortisone in Congenital Adrenal Hyperplasia.

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

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Clinical prediction guides

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

Prevention and Treatment of Glucocorticoid-Induced Osteoporosis in Adults: Consensus Recommendations From the Belgian Bone Club.

Modified-Release Hydrocortisone in Congenital Adrenal Hyperplasia.

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

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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: 36120452 Free 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: 35731516 Free 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: 29405037 Free PMC Article

Prenatal dexamethasone use for the prevention of virilization in pregnancies at risk for classical congenital adrenal hyperplasia because of 21-hydroxylase (CYP21A2) deficiency: a systematic review and meta-analyses.

Mercè Fernández-Balsells M, Muthusamy K, Smushkin G, Lampropulos JF, Elamin MB, Abu Elnour NO, Elamin KB, Agrwal N, Gallegos-Orozco JF, Lane MA, Erwin PJ, Montori VM, Murad MH
Clin Endocrinol (Oxf) 2010 Oct;73(4):436-44. doi: 10.1111/j.1365-2265.2010.03826.x. PMID: 20550539

See all (13)

MedGen

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

Definition

Clinical features

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Recent systematic reviews

Supplemental Content

Table of contents

Clinical resources

Practice guidelines

Molecular resources

Consumer resources

Reviews

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