Second-Line Tests in the Diagnosis of Adrenocorticotropic Hormone-Dependent Hypercortisolism
2
조회
0
다운로드
0
인용
0
참고문헌
키워드
초록
Cushing’s syndrome (CS) is a rare disease caused by chronic and excessive cortisol secretion. When adrenocorticotropin hormone (ACTH) is measurable, autonomous adrenal cortisol secretion could be reasonably ruled out in a differential diagnosis of CS. ACTH-dependent CS accounts for 80%–85% of cases and involves cortisol production stimulated by uncontrolled pituitary or ectopic ACTH secretion. Pituitary adenoma is not detected in up to one-third of cases with pituitary ACTH secretion, whereas cases of CS due to ectopic ACTH secretion may be associated with either malignant neoplasia (such as small cell lung carcinoma) or less aggressive neuroendocrine tumors, exhibiting only the typical symptoms and signs of CS. Since the differential diagnosis of ACTH-dependent CS may be a challenge, many strategies have been proposed. Since none of the available tests show 100% diagnostic accuracy, a step-by-step approach combining several diagnostic tools and a multidisciplinary evaluation in a referral center is suggested. In this review, we present a clinical case to demonstrate the diagnostic work-up of ACTH-dependent CS. We describe the most commonly used dynamic tests, as well as the applications of conventional or nuclear imaging and invasive procedures.
Abstract
Cushing’s syndrome (CS) is a rare disease caused by chronic and excessive cortisol secretion. When adrenocorticotropin hormone (ACTH) is measurable, autonomous adrenal cortisol secretion could be reasonably ruled out in a differential diagnosis of CS. ACTH-dependent CS accounts for 80%–85% of cases and involves cortisol production stimulated by uncontrolled pituitary or ectopic ACTH secretion. Pituitary adenoma is not detected in up to one-third of cases with pituitary ACTH secretion, whereas cases of CS due to ectopic ACTH secretion may be associated with either malignant neoplasia (such as small cell lung carcinoma) or less aggressive neuroendocrine tumors, exhibiting only the typical symptoms and signs of CS. Since the differential diagnosis of ACTH-dependent CS may be a challenge, many strategies have been proposed. Since none of the available tests show 100% diagnostic accuracy, a step-by-step approach combining several diagnostic tools and a multidisciplinary evaluation in a referral center is suggested. In this review, we present a clinical case to demonstrate the diagnostic work-up of ACTH-dependent CS. We describe the most commonly used dynamic tests, as well as the applications of conventional or nuclear imaging and invasive procedures.
참고문헌 (72)
- Nieman LK, "The diagnosis of Cushing’s syndrome: an Endocrine Society clinical practice guideline", J Clin Endocrinol Metab, 93, pp.1526~1540 (2008)
- Ceccato F, "Cushing’s syndrome: screening and diagnosis", High Blood Press Cardiovasc Prev, 23, pp.209~215 (2016)
- Boscaro M, "Approach to the patient with possible Cushing’s syndrome", J Clin Endocrinol Metab, 94, pp.3121~3131 (2009)
- Shimon I, "Screening for Cushing’s syndrome: is it worthwhile?", Pituitary, 18, pp.201~205 (2015)
- Ceccato F, "The diagnostic accuracy of increased late night salivary cortisol for Cushing’s syndrome: a real-life prospective study", J Endocrinol Invest, 42, pp.327~335 (2019)
- Arnaldi G, "Diagnosis and complications of Cushing’s syndrome: a consensus statement", J Clin Endocrinol Metab, 88, pp.5593~5602 (2003)
- Nieman LK, "Treatment of Cushing’s syndrome: an Endocrine Society clinical practice guideline", J Clin Endocrinol Metab, 100, pp.2807~2831 (2015)
- Lacroix A, "Cushing’s syndrome", Lancet, 386, pp.913~927 (2015)
- Barbot M, "Cushing’s syndrome: overview of clinical presentation, diagnostic tools and complications", Best Pract Res Clin Endocrinol Metab, 34, pp.101380~ (2020)
- Pecori Giraldi F, "Assessment of ACTH assay variability: a multicenter study", Eur J Endocrinol, 164, pp.505~512 (2011)
- Hernández I, "Ectopic ACTH-secreting syndrome: a single center experience report with a high prevalence of occult tumor", Arch Med Res, 37, pp.976~980 (2006)
- Isidori AM, "Conventional and nuclear medicine imaging in ectopic Cushing’s syndrome: a systematic review", J Clin Endocrinol Metab, 100, pp.3231~3244 (2015)
- Barbot M, "Predicting late recurrence in surgically treated patients with Cushing’s disease", Clin Endocrinol, 79, pp.394~401 (2013)
- Testa RM, "The usefulness of combined biochemical tests in the diagnosis of Cushing’s disease with negative pituitary magnetic resonance imaging", Eur J Endocrinol, 156, pp.241~248 (2007)
- Lonser RR, "Cushing’s disease: pathobiology, diagnosis, and management", J Neurosurg, 126, pp.404~417 (2017)
- Kola B, "Dynamic testing in Cushing’s syndrome", Pituitary, 11, pp.155~162 (2008)
- Barbot M, "Second-line tests in the differential diagnosis of ACTH-dependent Cushing’s syndrome", Pituitary, 19, pp.488~495 (2016)
- Pecori Giraldi F, "The corticotropin-releasing hormone test in the diagnosis of ACTH-dependent Cushing’s syndrome: a reappraisal", Clin Endocrinol (Oxf), 54, pp.601~607 (2001)
- Reimondo G, "The corticotrophin-releasing hormone test is the most reliable noninvasive method to differentiate pituitary from ectopic ACTH secretion in Cushing’s syndrome", Clin Endocrinol, 58, pp.718~724 (2003)
- Vilar L, "The role of non-invasive dynamic tests in the diagnosis of Cushing’s syndrome", J Endocrinol Invest, 31, pp.1008~1013 (2008)
- Suda T, "Evaluation of diagnostic tests for ACTH-dependent Cushing’s syndrome", Endocr J, 56, pp.469~476 (2009)
- Ritzel K, "ACTH after 15 min distinguishes between Cushing’s disease and ectopic Cushing’s syndrome: a proposal for a short and simple CRH test", Eur J Endocrinol, 173, pp.197~204 (2015)
- Frete C, "Non-invasive diagnostic strategy in ACTH-dependent Cushing’s syndrome", J Clin Endocrinol Metab, 105, pp.3273~3284 (2020)
- Ceccato F, "Human corticotropin-releasing hormone tests: 10 years of real-life experience in pituitary and adrenal disease", J Clin Endocrinol Metab, 105, pp.dgaa564~ (2020)
- Liu Z, "High positive predictive value of the combined pituitary dynamic enhanced MRI and high-dose dexamethasone suppression tests in the diagnosis of Cushing’s disease bypassing bilateral inferior petrosal sinus sampling", Sci Rep, 10, pp.14694~ (2020)
- Aron DC, "Effectiveness versus efficacy: the limited value in clinical practice of high dose dexamethasone suppression testing in the differential diagnosis of adrenocorticotropin-dependent Cushing’s syndrome", J Clin Endocrinol Metab, 82, pp.1780~1785 (1997)
- Lin LY, "Assessment of bilateral inferior petrosal sinus sampling (BIPSS) in the diagnosis of Cushing’s disease", J Chin Med Assoc, 70, pp.4~10 (2007)
- Aytug S, "Assessment of the utility of the high-dose dexamethasone suppression test in confirming the diagnosis of Cushing disease", Endocr Pract, 18, pp.152~157 (2012)
- Albiger NME, "Cyclic Cushing’s syndrome: an overview", Arq Bras Endocrinol Metab, 51, pp.1253~1260 (2007)
- Ceccato F, "Dexamethasone measurement during low-dose suppression test for suspected hypercortisolism: threshold development with and validation", J Endocrinol Invest, 43, pp.1105~1113 (2020)
- Young J, "Management of endocrine disease: Cushing’s syndrome due to ectopic ACTH secretion: an expert operational opinion", Eur J Endocrinol, 182, pp.R29~R58 (2020)
- Colao A, "Inferior petrosal sinus sampling in the differential diagnosis of Cushing’s syndrome: results of an Italian multicenter study", Eur J Endocrinol, 144, pp.499~507 (2001)
- Deipolyi A, "Bilateral inferior petrosal sinus sampling: experience in 327 patients", J Neurointerv Surg, 9, pp.196~199 (2017)
- Bonelli FS, "Adrenocorticotropic hormone-dependent Cushing’s syndrome: sensitivity and specificity of inferior petrosal sinus sampling", Am J Neuroradiol, 21, pp.690~696 (2000)
- Wind JJ, "The lateralization accuracy of inferior petrosal sinus sampling in 501 patients with Cushing’s disease", J Clin Endocrinol Metab, 98, pp.2285~2293 (2013)
- Pereira CA, "Diagnostic accuracy of bilateral inferior petrosal sinus sampling: the experience of a tertiary centre", Exp Clin Endocrinol Diabetes, 129, pp.126~130 (2019)
- Swearingen B, "Diagnostic errors after inferior petrosal sinus sampling", J Clin Endocrinol Metab, 89, pp.3752~3763 (2004)
- Shi X, "Assessment of bilateral inferior petrosal sinus sampling in the diagnosis and surgical treatment of the ACTH-dependent Cushing’s syndrome: a comparison with other tests", Neuro Endocrinol Lett, 32, pp.865~873 (2011)
- Lefournier V, "Accuracy of bilateral inferior petrosal or cavernous sinuses sampling in predicting the lateralization of Cushing’s disease pituitary microadenoma: influence of catheter position and anatomy of venous drainage", J Clin Endocrinol Metab, 88, pp.196~203 (2003)
- Deipolyi AR, "Bilateral inferior petrosal sinus sampling using desmopressin or corticotropic-releasing hormone: a single-center experience", J Neurointerv Surg, 7, pp.690~693 (2015)
- Zampetti B, "Bilateral inferior petrosal sinus sampling", Endocr Connect, 5, pp.R12~R25 (2016)
- Castinetti F, "Desmopressin test during petrosal sinus sampling: a valuable tool to discriminate pituitary or ectopic ACTH-dependent Cushing’s syndrome", Eur J Endocrinol, 157, pp.271~277 (2007)
- Machado MC, "The role of desmopressin in bilateral and simultaneous inferior petrosal sinus sampling for differential diagnosis of ACTH-dependent Cushing’s syndrome", Clin Endocrinol, 66, pp.136~142 (2007)
- Chen S, "The optimal cut-off of BIPSS in differential diagnosis of ACTH-dependent Cushing’s syndrome: is stimulation necessary?", J Clin Endocrinol Metab, 105, pp.e1673~e1685 (2020)
- Zilio M, "A venous thromboembolism risk assessment model for patients with Cushing’s syndrome", Endocrine, 52, pp.322~332 (2016)
- Pecori Giraldi F, "Caution during use of desmopressin in IPSS", J Neurointerv Surg, 5, pp.e27~ (2013)
- Luque RM, "A cellular and molecular basis for the selective desmopressin-induced ACTH release in Cushing disease patients: key role of AVPR1b receptor and potential therapeutic implications", J Clin Endocrinol Metab, 98, pp.4160~4169 (2013)
- Vassiliadi DA, "Diagnosis of endocrine disease: the role of the desmopressin test in the diagnosis and follow-up of Cushing’s syndrome", Eur J Endocrinol, 178, pp.R201~R214 (2018)
- Terzolo M, "The limited value of the desmopressin test in the diagnostic approach to Cushing’s syndrome", Clin Endocrinol, 54, pp.609~616 (2001)
- Tsagarakis S, "The desmopressin and combined CRH-desmopressin tests in the differential diagnosis of ACTH-dependent Cushing’s syndrome: constraints imposed by the expression of V2 vasopressin receptors in tumors with ectopic ACTH secretion", J Clin Endocrinol Metab, 87, pp.1646~1653 (2002)
- Colombo P, "Usefulness of the desmopressin test in the postoperative evaluation of patients with Cushing’s disease", Eur J Endocrinol, 143, pp.227~234 (2000)
- Ambrogio AG, "Usefulness of desmopressin testing to predict relapse during long-term follow-up in patients in remission from Cushing’s disease", Endocr Connect, 6, pp.791~799 (2017)
- Palermo M, "Urinary free cortisone and the assessment of 11 beta-hydroxysteroid dehydrogenase activity in man", Clin Endocrinol, 45, pp.605~611 (1996)
- Ceccato F, "Monogenic forms of hypertension", Endocrinol Metab Clin North Am, 48, pp.795~810 (2019)
- Funder JW, "Apparent mineralocorticoid excess", J Steroid Biochem Mol Biol, 165, pp.151~153 (2017)
- Antonelli G, "Salivary cortisol and cortisone by LC-MS", MS: validation, reference intervals and diagnostic accuracy in Cushing’s syndrome, 2015, pp.451, 247~251
- Gregori Casals, "Cortisol Measurements in Cushing's Syndrome: Immunoassay or Mass Spectrometry?", Annals of Laboratory Medicine, 40(4), pp.285~296 (2020), 대한진단검사의학회[DOI]
- Ceccato F, "Diagnostic accuracy of increased urinary cortisol", cortisone ratio to differentiate ACTH-dependent Cushing’s syndrome, 2017, pp.87, 500~507
- Yogi-Morren D, "Pituitary MRI findings in patients with pituitary and ectopic ACTH-dependent Cushing syndrome: does a 6-mm pituitary tumor size cut-off value exclude ectopic ACTH syndrome?", Endocr Pract, 21, pp.1098~1103 (2015)
- Goroshi MR, "Comparison of 68Ga-DOTANOC PET", CT and contrast-enhanced CT in localisation of tumours in ectopic ACTH syndrome, 2016, pp.5, 83~91
- ‐DOTATATE PET, "CT for the diagnosis and management of ectopic adrenocorticotropic hormone–secreting tumours", Clin Endocrinol, 91, pp.288~294 (2019)
- Ceccato F, "The role of 68Ga-DOTA derivatives PET-CT in patients with ectopic ACTH syndrome", Endocr Connect, 9, pp.337~345 (2020)
- Loriaux DL, "Diagnosis and differential diagnosis of Cushing’s syndrome", N Engl J Med, 376, pp.1451~1459 (2017)
- Findling JW, "Diagnosis and differential diagnosis of Cushing’s syndrome", N Engl J Med, 377, pp.e3~ (2017)
- Oelkers W, "Diagnosis and differential diagnosis of Cushing’s syndrome", N Engl J Med, 377, pp.e3~ (2017)
- Goodman RL, "Diagnosis and differential diagnosis of Cushing’s syndrome", N Engl J Med, 377, pp.e3~ (2017)
- Newell-Price J, "Optimal response criteria for the human CRH test in the differential diagnosis of ACTH-dependent Cushing’s syndrome", J Clin Endocrinol Metab, 87, pp.1640~1645 (2002)
- Grant P, "Maximizing the accuracy of inferior petrosal sinus sampling: validation of the use of prolactin as a marker of pituitary venous effluent in the diagnosis of Cushing’s disease", Clin Endocrinol, 76, pp.555~559 (2012)
- Sheth SA, "Transsphenoidal surgery for Cushing disease after nondiagnostic inferior petrosal sinus sampling", Neurosurgery, 71, pp.14~22 (2012)
- Sakai Y, "Desmopressin stimulation test for diagnosis of ACTH-dependent Cushing’s syndrome", Endocr J, 44, pp.687~695 (1997)
- Newell-Price J, "The desmopressin test and Cushing’s syndrome: current state of play", Clin Endocrinol, 47, pp.173~174 (1997)
- Colombo P, "Effect of desmopressin on ACTH and cortisol secretion in states of ACTH excess", Clin Endocrinol, 46, pp.661~668 (1997)
