Diagnostic strategies in adrenal insufficiency.
Journal
Current opinion in endocrinology, diabetes, and obesity
ISSN: 1752-2978
Titre abrégé: Curr Opin Endocrinol Diabetes Obes
Pays: England
ID NLM: 101308636
Informations de publication
Date de publication:
01 06 2023
01 06 2023
Historique:
medline:
17
5
2023
pubmed:
11
4
2023
entrez:
10
4
2023
Statut:
ppublish
Résumé
Adrenal insufficiency (AI) is the clinical manifestation of deficient production of glucocorticoids with occasionally deficiency also in mineralocorticoids and adrenal androgens and constitutes a fatal disorder if left untreated. The aim of this review is to summarize the new trends in diagnostic methods used for determining the presence of AI. Novel aetiologies of AI have emerged; severe acute respiratory syndrome coronavirus 2 infection was linked to increased frequency of primary AI (PAI). A new class of drugs, the immune checkpoint inhibitors (ICIs) widely used for the treatment of several malignancies, has been implicated mostly with secondary AI, but also with PAI. Salivary cortisol is considered a noninvasive and patient-friendly tool and has shown promising results in diagnosing AI, although the normal cut-off values remain an issue of debate depending on the technique used. Liquid chromatography-mass spectrometry (LC-MS/MS) is the most reliable technique although not widely available. Our research has shown that little progress has been made regarding our knowledge on AI. Coronavirus disease 2019 and ICIs use constitute new evidence on the pathogenesis of AI. The short synacthen test (SST) remains the 'gold-standard' method for confirmation of AI diagnosis, although salivary cortisol is a promising tool.
Identifiants
pubmed: 37036291
doi: 10.1097/MED.0000000000000806
pii: 01266029-202306000-00002
doi:
Substances chimiques
Hydrocortisone
WI4X0X7BPJ
Types de publication
Review
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
141-153Informations de copyright
Copyright © 2023 Wolters Kluwer Health, Inc. All rights reserved.
Références
Alexandraki KI, Sanpawithayakul K, Grossman A, et al. Adrenal insufficiency. Endotext 2022.
Kumar R, Wassif WS. Adrenal insufficiency. J Clin Pathol 2022; 75:435–442.
Hahner S, Ross RJ, Arlt W, et al. Adrenal insufficiency. Nat Rev Dis Primers 2021; 7:19.
Barthel A, Benker G, Berens K, et al. An update on Addison's disease. Exp Clin Endocrinol Diabetes 2019; 127:165–175.
Betterle C, Presotto F, Furmaniak J. Epidemiology, pathogenesis, and diagnosis of Addison's disease in adults. J Endocrinol Invest 2019; 42:1407–1433.
Bancos I, Hahner S, Tomlinson J, Arlt W. Diagnosis and management of adrenal insufficiency. Lancet Diabetes Endocrinol 2015; 3:216–226.
Hashim M, Athar S, Gaba WH. New onset adrenal insufficiency in a patient with COVID-19. BMJ Case Rep 2021; 14:e237690.
Sheikh AB, Javaid MA, Sheikh AAE, Shekhar R. Central adrenal insufficiency and diabetes insipidus as potential endocrine manifestations of COVID-19 infection: a case report. Pan Afr Med J 2021; 38:222.
Morita S, Tsuji T, Kishimoto S, et al. Isolated ACTH deficiency following immunization with the BNT162b2 SARS-CoV-2 vaccine: a case report. BMC Endocr Disord 2022; 22:185.
Vakhshoori M, Heidarpour M, Bondariyan N, et al. Adrenal insufficiency in coronavirus disease 2019 (COVID-19)-infected patients without preexisting adrenal diseases: a systematic literature review. Int J Endocrinol 2021; 2021:2271514.
Freire Santana M, Borba MGS, Baía-da-Silva DC, et al. Adrenal pathology findings in severe COVID-19: an autopsy study. Am J Trop Med Hyg 2020; 103:1604–1607.
Leyendecker P, Ritter S, Riou M, et al. Acute adrenal infarction as an incidental CT finding and a potential prognosis factor in severe SARS-CoV-2 infection: a retrospective cohort analysis on 219 patients. Eur Radiol 2021; 31:895–900.
Cui K, Wang Z, Zhang Q, Zhang X. Immune checkpoint inhibitors and adrenal insufficiency: a large-sample case series study. Ann Transl Med 2022; 10:251.
Grouthier V, Lebrun-Vignes B, Moey M, et al. Immune checkpoint inhibitor-associated primary adrenal insufficiency: WHO VigiBase report analysis. Oncologist 2020; 25:696–701.
Lu D, Yao J, Yuan G, et al. Immune checkpoint inhibitor-associated new-onset primary adrenal insufficiency: a retrospective analysis using the FAERS. J Endocrinol Invest 2022; 45:2131–2137.
Røyrvik EC, Husebye ES. The genetics of autoimmune Addison disease: past, present and future. Nat Rev Endocrinol 2022; 18:399–412.
Ali N, Maharaj AV, Buonocore F, et al. Can digenic, Tri-Allelic inheritance of variants in STAR and CYP11A1 give rise to primary adrenal insufficiency? A case report. Front Endocrinol (Lausanne) 2022; 13:860055.
Almeida MQ. Genetic diagnosis of primary adrenal insufficiency in children: a paradigm change. J Endocr Soc 2021; 5:bvab117.
Buonocore F, Achermann JC. Primary adrenal insufficiency: new genetic causes and their long-term consequences. Clin Endocrinol (Oxf) 2020; 92:11–20.
Buonocore F, Maharaj A, Qamar Y, et al. Genetic analysis of pediatric primary adrenal insufficiency of unknown etiology: 25 years’ experience in the UK. J Endocr Soc 2021; 5:bvab086.
Krasovec T, Sikonja J, Zerjav Tansek M, et al. Long-term follow-up of three family members with a novel NNT pathogenic variant causing primary adrenal insufficiency. Genes (Basel) 2022; 13:717.
Maharaj A, Güran T, Buonocore F, et al. Insights from long-term follow-up of a girl with adrenal insufficiency and sphingosine-1-phosphate lyase deficiency. J Endocr Soc 2022; 6:bvac020.
Hinata Y, Ohara N, Sakurai Y, et al. Isolated adrenocorticotropic hormone deficiency associated with severe hyperkalemia during pembrolizumab therapy in a patient with ureteral cancer and an ileal conduit: a case report and literature review. Am J Case Rep 2021; 22:e931639.
Hino C, Nishino K, Pham B, et al. Nivolumab plus ipilimumab induced endocrinopathy and acute interstitial nephritis in metastatic sarcomatoid renal-cell carcinoma: a case report and review of literature. Front Immunol 2022; 13:993622.
Iglesias P, Peiró I, Biagetti B, et al. Immunotherapy-induced isolated ACTH deficiency in cancer therapy. Endocr Relat Cancer 2021; 28:783–792.
Labadzhyan A, Wentzel K, Hamid O, et al. Endocrine autoantibodies determine immune checkpoint inhibitor-induced endocrinopathy: a prospective study. J Clin Endocrinol Metab 2022; 107:1976–1982.
Manaka K, Sato J, Takeuchi M, et al. Immune checkpoint inhibitor combination therapies very frequently induce secondary adrenal insufficiency. Sci Rep 2021; 11:11617.
Namikawa T, Shimizu S, Yokota K, et al. Isolated adrenocorticotropic hormone deficiency induced by nivolumab treatment for advanced gastric cancer. Clin J Gastroenterol 2021; 14:988–993.
Seejore K, Giannoudi M, Osborn D, et al. Characterisation of the onset and severity of adrenal and thyroid dysfunction associated with CTLA4-related hypophysitis. Eur J Endocrinol 2021; 186:83–93.
Husebye ES, Castinetti F, Criseno S, et al. Endocrine-related adverse conditions in patients receiving immune checkpoint inhibition: an ESE clinical practice guideline. Eur J Endocrinol 2022; 187:G1–G21.
Wright JJ, Powers AC, Johnson DB. Endocrine toxicities of immune checkpoint inhibitors. Nat Rev Endocrinol 2021; 17:389–399.
Di Dalmazi G, Ippolito S, Lupi I, Caturegli P. Hypophysitis induced by immune checkpoint inhibitors: a 10-year assessment. Expert Rev Endocrinol Metab 2019; 14:381–398.
Bleicken B, Ventz M, Quinkler M, Hahner S. Delayed diagnosis of adrenal insufficiency is common: a cross-sectional study in 216 patients. Am J Med Sci 2010; 339:525–531.
Lentz S, Collier KC, Willis G, Long B. Diagnosis and management of adrenal insufficiency and adrenal crisis in the emergency department. J Emerg Med 2022; 63:212–220.
Raff H, Sharma ST, Nieman LK. Physiological basis for the etiology, diagnosis, and treatment of adrenal disorders: Cushing's syndrome, adrenal insufficiency, and congenital adrenal hyperplasia. Compr Physiol 2014; 4:739–769.
Charmandari E, Nicolaides NC, Chrousos GP. Adrenal insufficiency. Lancet 2014; 383:2152–2167.
Bornstein SR, Allolio B, Arlt W, et al. Diagnosis and treatment of primary adrenal insufficiency: an Endocrine Society clinical practice guideline. J Clin Endocrinol Metab 2016; 101:364–389.
Dichtel LE, Schorr M, Loures de Assis C, et al. Plasma free cortisol in states of normal and altered binding globulins: Implications for adrenal insufficiency diagnosis. J Clin Endocrinol Metab 2019; 104:4827–4836.
Kumar R, Carr P, Wassif W. Diagnostic performance of morning serum cortisol as an alternative to short synacthen test for the assessment of adrenal reserve; a retrospective study. Postgrad Med J 2022; 98:113–118.
Mackenzie SD, Gifford RM, Boyle LD, et al. Validated criteria for the interpretation of a single measurement of serum cortisol in the investigation of suspected adrenal insufficiency. Clin Endocrinol (Oxf) 2019; 91:608–615.
Manosroi W, Phimphilai M, Khorana J, Atthakomol P. Diagnostic performance of basal cortisol level at 0900-1300 h in adrenal insufficiency. PLoS One 2019; 14:e0225255.
Montes-Villarreal J, Perez-Arredondo LA, Rodriguez-Gutierrez R, et al. Serum morning cortisol as a screening test for adrenal insufficiency. Endocr Pract 2020; 26:30–35.
Lee MKV, Vasikaran S, Doery JCG, et al. Cortisol: ACTH ratio to test for primary hypoadrenalism: a pilot study. Postgrad Med J 2013; 89:617–620.
Michailidou M, Aggeletopoulou I, Kouskoura M, et al. Urinary free cortisol is a reliable index of adrenal cortisol production in patients with liver cirrhosis. Endocrine 2022; 76:697–708.
Deutschbein T, Broecker-Preuss M, Flitsch J, Jaeger A, et al. Salivary cortisol as a diagnostic tool for Cushing's syndrome and adrenal insufficiency: improved screening by an automatic immunoassay. Eur J Endocrinol 2012; 166:613–618.
Ceccato F, Barbot M, Zilio M, et al. Performance of salivary cortisol in the diagnosis of Cushing's syndrome, adrenal incidentaloma, and adrenal insufficiency. Eur J Endocrinol 2013; 169:31–36.
Debono M, Harrison RF, Whitaker MJ, et al. Salivary cortisone reflects cortisol exposure under physiological conditions and after hydrocortisone. J Clin Endocrinol Metab 2016; 101:1469–1477.
Langelaan MLP, Kisters JMH, Oosterwerff MM, Boer A-K. Salivary cortisol in the diagnosis of adrenal insufficiency: cost efficient and patient friendly. Endocr Connect 2018; 7:560–566.
Debono M, Elder CJ, Lewis J, et al. Home waking salivary cortisone to screen for adrenal insufficiency. NEJM Evid 2023; 2:
Butt MI, Alzuhayri N, Amer L, et al. Comparing the utility of 30- and 60-min cortisol levels after the standard short synacthen test to determine adrenal insufficiency: a retrospective cross-sectional study: A retrospective cross-sectional study. Medicine (Baltimore) 2020; 99:e22621.
Dineen R, Mohamed A, Gunness A, et al. Outcomes of the short Synacthen test: what is the role of the 60 min sample in clinical practice? Postgrad Med J 2020; 96:67–72.
Younas A, Ali A, Nawaz MA, et al. Comparative evaluation of 30 and 60 min cortisol levels during short synacthen test for diagnosis of adrenal insufficiency. J Pak Med Assoc 2019; 69:1628–1631.
Chitale A, Musonda P, McGregor AM, Dhatariya KK. Determining the utility of the 60 min cortisol measurement in the short synacthen test. Clin Endocrinol (Oxf) 2013; 79:14–19.
Cross AS, Helen Kemp E, White A, et al. International survey on high- and low-dose synacthen test and assessment of accuracy in preparing low-dose synacthen. Clin Endocrinol (Oxf) 2018; 88:744–751.
Ospina NS, Al Nofal A, Bancos I, et al. ACTH stimulation tests for the diagnosis of adrenal insufficiency: Systematic review and meta-analysis. J Clin Endocrinol Metab 2016; 101:427–434.
Martin-Grace J, Dineen R, Sherlock M, Thompson CJ. Adrenal insufficiency: physiology, clinical presentation and diagnostic challenges. Clin Chim Acta 2020; 505:78–91.
Ach T, Yosra H, Jihen M, et al. Cortisol cut-points for the glucagon stimulation test in the evaluation of hypothalamic pituitary adrenal axis. Endocr J 2018; 65:935–942.
Hamrahian AH, Yuen KCJ, Gordon MB, et al. Revised GH and cortisol cut-points for the glucagon stimulation test in the evaluation of GH and hypothalamic-pituitary-adrenal axes in adults: results from a prospective randomized multicenter study. Pituitary 2016; 19:332–341.
Cegla J, Jones B, Seyani L, et al. Comparison of the overnight metyrapone and glucagon stimulation tests in the assessment of secondary hypoadrenalism. Clin Endocrinol (Oxf) 2013; 78:738–742.
Del Pilar Larosa M, Chen S, Steinmaus N, Macrae H, et al. A new ELISA for autoantibodies to steroid 21-hydroxylase. Clin Chem Lab Med 2018; 56:933–938.
Saverino S, Falorni A. Autoimmune Addison's disease. Best Pract Res Clin Endocrinol Metab 2020; 34:101379.
Simsek Y, Karaca Z, Tanriverdi F, et al. A comparison of low-dose ACTH, glucagon stimulation and insulin tolerance test in patients with pituitary disorders. Clin Endocrinol (Oxf) 2015; 82:45–52.
Cho HY, Kim JH, Kim SW, et al. Different cut-off values of the insulin tolerance test, the high-dose short Synacthen test (250 (g) and the low-dose short Synacthen test (1 μg) in assessing central adrenal insufficiency. Clin Endocrinol (Oxf) 2014; 81:77–84.
Peechakara S, Bena J, Clarke NJ, et al. Total and free cortisol levels during 1 μg, 25 μg, and 250 μg cosyntropin stimulation tests compared to insulin tolerance test: results of a randomized, prospective, pilot study. Endocrine 2017; 57:388–393.
Struja T, Briner L, Meier A, et al. Diagnostic accuracy of basal cortisol level to predict adrenal insufficiency in cosyntropin testing: Results from an observational cohort study with 804 patients. Endocr Pract 2017; 23:949–961.
Raverot V, Richet C, Morel Y, et al. Establishment of revised diagnostic cut-offs for adrenal laboratory investigation using the new Roche Diagnostics Elecsys® Cortisol II assay. Ann Endocrinol (Paris) 2016; 77:620–622.
Javorsky BR, Raff H, Carroll TB, et al. New cutoffs for the biochemical diagnosis of adrenal insufficiency after ACTH stimulation using specific cortisol assays. J Endocr Soc 2021; 5:bvab022.
Brossaud J, Gatta B, Tabarin A, Corcuff J-B. Different methods to estimate serum free cortisol: a comparison during cortisol tetracosactide testing. Clin Chem Lab Med 2015; 53:1367–1373.
El-Farhan N, Pickett A, Ducroq D, et al. Method-specific serum cortisol responses to the adrenocorticotrophin test: comparison of gas chromatography-mass spectrometry and five automated immunoassays. Clin Endocrinol (Oxf) 2013; 78:673–680.
Kline GA, Buse J, Krause RD. Clinical implications for biochemical diagnostic thresholds of adrenal sufficiency using a highly specific cortisol immunoassay. Clin Biochem 2017; 50:475–480.
Ueland GÅ, Methlie P, Øksnes M, et al. The short cosyntropin test revisited: new normal reference range using LC-MS/MS. J Clin Endocrinol Metab 2018; 103:1696–1703.
Mak IYF, Au Yeung BYT, Ng YW, et al. Salivary cortisol and cortisone after low-dose corticotropin stimulation in the diagnosis of adrenal insufficiency. J Endocr Soc 2017; 1:96–108.
Li-Ng M, Kennedy L. Adrenal insufficiency: adrenal insufficiency. J Surg Oncol 2012; 106:595–599.
Kim YJ, Kim JH, Hong AR, et al. Stimulated salivary cortisol as a noninvasive diagnostic tool for adrenal insufficiency. Endocrinol Metab (Seoul) 2020; 35:628–635.
Kosák M, Hána V, Hill M, et al. Serum cortisol seems to be a more appropriate marker for adrenocortical reserve evaluation in ACTH test in comparison to salivary cortisol. Physiol Res 2014; 63:229–236.
Bancos I, Erickson D, Bryant S, et al. Performance of free versus total cortisol following cosyntropin stimulation testing in an outpatient setting. Endocr Pract 2015; 21:1353–1363.