Ectopic ACTH production by thymic and appendiceal neuroendocrine tumors – two case reports
-
Elżbieta Moszczyńska
,
Katarzyna Pasternak-Pietrzak
,
Monika Prokop-Piotrkowska
Abstract
Objectives
Ectopic adrenocorticotropic syndrome (EAS) causes approximately 10–18% of cases of Cushing’s syndrome (CS) in adults, while in children it occurs much less frequently.
Case presentation
We report two cases of neuroendocrine tumors (of the thymus and the appendix) in a 12-year-old boy and a 15-year-old girl who presented with the clinical features of CS. Elevated serum cortisol, ACTH, and chromogranin levels were observed in both patients. Diagnoses were made on the basis of a mass in the thymus/appendix region visualized with chest/abdominal CT scan and radiotracer accumulation in scintigraphy in the same areas. Histopathological examinations confirmed the diagnoses of NET.
Conclusion
EAS is an extremely rare endocrine disorder. However, it should be taken into consideration in the diagnostic process of every case of ACTH-dependent CS.
Research funding: None declared.
Author contributions: All the authors have accepted the responsibility for the entire content of this submitted manuscript and approved the submission.
Competing interest: The authors declare no conflicts of interest.
Informed consent: Informed consent was obtained from all individuals included in this study.
Ethical approval: We hereby state that the subjects and their parents gave their written informed consent to publish their cases.
References
1. Ilias, I, Torpy, DJ, Pacak, K, Mullen, N, Wesley, RA, Nieman, LK. Cushing’s syndrome due to ectopic corticotropin secretion: 20 years’ experience at the National Institutes of Health. J Clin Endocrinol Metab 2005;90:4955–62. https://doi.org/10.1210/jc.2004-2527.Suche in Google Scholar PubMed
2. Isidori, AM, Kaltsas, GA, Pozza, C, Frajese, V, Newell-Price, J, Reznek, RH, et al.. The ectopic adrenocorticotropin syndrome: clinical features, diagnosis, management, and long-term follow-up. J Clin Endocrinol Metab 2006;91:371–7. https://doi.org/10.1210/jc.2005-1542.Suche in Google Scholar PubMed
3. More, J, Young, J, Reznik, Y, Raverot, G, Borson-Chazot, F, Rohmer, V, et al.. Ectopic ACTH syndrome in children and adolescents. J Clin Endocrinol Metab 2011;96:1213–22. https://doi.org/10.1210/jc.2010-2276.Suche in Google Scholar PubMed
4. Findling, JW, Raff, H. Diagnosis of endocrine disease: differentiation of pathologic/neoplastic hypercortisolism (Cushing’s syndrome) from physiologic/non-neoplastic hypercortisolism (formerly known as pseudo-Cushing’s syndrome). Eur J Endocrinol 2017;176:205–16. https://doi.org/10.1530/eje-16-0946.Suche in Google Scholar
5. Stratakis, CA. Cushing syndrome in pediatrics. Endocrinol Metab Clin N Am 2012;41:793–803. https://doi.org/10.1016/j.ecl.2012.08.002.10.1016/j.ecl.2012.08.002Suche in Google Scholar PubMed PubMed Central
6. Malinowska, A, Ginalska-Malinowska, M, Szmit-Domagalska, J, Petriczko, E, Kaliciński, P, Nachulewicz, P, et al.. Cyclical cushing’s syndrome in 15-year old girl. Endokrynol Pediatr 2009;2:79–84. https://doi.org/10.18544/EP-01.08.02.1149.Suche in Google Scholar
7. Gilbert, R, Lim, EM. The diagnosis of Cushing’s syndrome: an endocrine society clinical practice guideline. Clin Biochem Rev 2008;29:103–6. https://doi.org/10.1210/jc.2008-0125.Suche in Google Scholar PubMed PubMed Central
8. Aniszewski, JP, Young, WF, Thompson, GB, Grant, CS, van Heerden, JA. Cushing syndrome due to ectopic adrenocorticotropic hormone secretion. World J Surg 2001;25:934–40. https://doi.org/10.1007/s00268-001-0032-5.Suche in Google Scholar PubMed
9. Findling, JW, Tyrrell, JB. Occult ectopic secretion of corticotropin. Arch Intern Med 1986;146:929–33. https://doi.org/10.1001/archinte.146.5.929.Suche in Google Scholar
10. Zemskova, MS, Gundabolu, B, Sinaii, N, Chen, CC, Carrasquillo, JA, Whatley, M, et al.. Utility of various functional and anatomic imaging modalities for detection of ectopic adrenocorticotropin- secreting tumors. J Clin Endocrinol Metab 2010;95:1207–19. https://doi.org/10.1210/jc.2009-2282.Suche in Google Scholar PubMed PubMed Central
11. Stratakis, CA. An update on Cushing syndrome in pediatrics. Ann Endocrinol 2018;79:125–31. https://doi.org/10.1016/j.ando.2018.03.010.10.1016/j.ando.2018.03.010Suche in Google Scholar PubMed
12. Güemes, M, Murray, PG, Brain, CE, Spoudeas, HA, Peters, CJ, Hindmarsh, PC, et al.. Management of Cushing syndrome in children and adolescents: experience of a single tertiary centre. Eur J Pediatr 2016;175:967–76. https://doi.org/10.1007/s00431-016-2727-5.Suche in Google Scholar PubMed
13. Valassi, E, Crespo, I, Gich, I, Rodríguez, J, Webb, SM. A reappraisal of the medical therapy with steroidogenesis inhibitors in Cushing’s syndrome. Clin Endocrinol 2012;77:735–42. https://doi.org/10.1111/j.1365-2265.2012.04424.x.Suche in Google Scholar PubMed
14. Biller, BMK, Grossman, AB, Stewart, PM, Melmed, S, Bertagna, X, Bertheratet, J, et al.. Treatment of adrenocorticotropin-dependent Cushing’s syndrome: a consensus statement. J Clin Endocrinol Metab 2008;93:2454–62. https://doi.org/doi.org/10.1210/jc.2007-2734.10.1210/jc.2007-2734Suche in Google Scholar PubMed PubMed Central
15. Lodish, MB, Sinaii, N, Patronas, N, Batista, DL, Keil, M, Samuel, J, et al.. Blood pressure in pediatric patients with Cushing syndrome. J Clin Endocrinol Metab 2009;94:2002–8. https://doi.org/10.1210/jc.2008-2694.Suche in Google Scholar PubMed PubMed Central
16. Ferone, D, Albertelli, M. Ectopic Cushing and other paraneoplastic syndromes in thoracic neuroendocrine tumors. M Thorac Surg Clin 2014;24:277–83. https://doi.org/10.1016/j.thorsurg.2014.05.002.Suche in Google Scholar PubMed
© 2020 Walter de Gruyter GmbH, Berlin/Boston
Artikel in diesem Heft
- Frontmatter
- Review Articles
- Association between muscle strength and risk factors for metabolic syndrome in children and adolescents: a systematic review
- Adverse effects of metabolic disorders in childhood on adult reproductive function and fertility in the male
- Original Articles
- Female adolescents and young women previously treated for pediatric malignancies: assessment of ovarian reserve and gonadotoxicity risk stratification for early identification of patients at increased infertility risk
- Anthropometric indices and cardiometabolic risk factors in a Ghanaian adolescent population
- Effectiveness of basal LH in monitoring central precocious puberty treatment in girls
- Combination of sleep duration, TV time and body mass index is associated with cardiometabolic risk moderated by age in youth
- Serum level of NPTX1 is independent of serum MKRN3 in central precocious puberty
- Training using a simulation-based workshop reduces inaccuracies in estimations of testicular volume
- Longitudinal 15-year follow-up of women with former early puberty: abnormal metabolic profiles not associated with earlier age at onset of puberty, but associated with obesity
- Prenatal smoke exposure is associated with increased anogenital distance in female infants: a prospective case–control study
- Evaluation of the efficiency of serum biotinidase activity as a newborn screening test in Turkey
- Characterization and outcome of 11 children with non-diabetic ketoacidosis
- Challenges of following patients with inherited metabolic diseases during the COVID-19 outbreak. A cross-sectional online survey study
- The utility of 68Ga-DOTATATE PET/CT in localizing primary/metastatic pheochromocytoma and paraganglioma in children and adolescents – a single-center experience
- Impact of sodium phenylbutyrate treatment in acute management of maple syrup urine disease attacks: a single-center experience
- Case Reports
- Delayed phenylketonuria diagnosis: a challenging case in child psychiatry
- Late diagnosis of 3β-Hydroxysteroid dehydrogenase deficiency: the pivotal role of gas chromatography-mass spectrometry urinary steroid metabolome analysis and a novel homozygous nonsense mutation in the HSD3B2 gene
- Differentiating syndrome of inappropriate ADH, reset osmostat, cerebral/renal salt wasting using fractional urate excretion
- Ectopic ACTH production by thymic and appendiceal neuroendocrine tumors – two case reports
- New onset diabetes with diabetic ketoacidosis in a child with multisystem inflammatory syndrome due to COVID-19
Artikel in diesem Heft
- Frontmatter
- Review Articles
- Association between muscle strength and risk factors for metabolic syndrome in children and adolescents: a systematic review
- Adverse effects of metabolic disorders in childhood on adult reproductive function and fertility in the male
- Original Articles
- Female adolescents and young women previously treated for pediatric malignancies: assessment of ovarian reserve and gonadotoxicity risk stratification for early identification of patients at increased infertility risk
- Anthropometric indices and cardiometabolic risk factors in a Ghanaian adolescent population
- Effectiveness of basal LH in monitoring central precocious puberty treatment in girls
- Combination of sleep duration, TV time and body mass index is associated with cardiometabolic risk moderated by age in youth
- Serum level of NPTX1 is independent of serum MKRN3 in central precocious puberty
- Training using a simulation-based workshop reduces inaccuracies in estimations of testicular volume
- Longitudinal 15-year follow-up of women with former early puberty: abnormal metabolic profiles not associated with earlier age at onset of puberty, but associated with obesity
- Prenatal smoke exposure is associated with increased anogenital distance in female infants: a prospective case–control study
- Evaluation of the efficiency of serum biotinidase activity as a newborn screening test in Turkey
- Characterization and outcome of 11 children with non-diabetic ketoacidosis
- Challenges of following patients with inherited metabolic diseases during the COVID-19 outbreak. A cross-sectional online survey study
- The utility of 68Ga-DOTATATE PET/CT in localizing primary/metastatic pheochromocytoma and paraganglioma in children and adolescents – a single-center experience
- Impact of sodium phenylbutyrate treatment in acute management of maple syrup urine disease attacks: a single-center experience
- Case Reports
- Delayed phenylketonuria diagnosis: a challenging case in child psychiatry
- Late diagnosis of 3β-Hydroxysteroid dehydrogenase deficiency: the pivotal role of gas chromatography-mass spectrometry urinary steroid metabolome analysis and a novel homozygous nonsense mutation in the HSD3B2 gene
- Differentiating syndrome of inappropriate ADH, reset osmostat, cerebral/renal salt wasting using fractional urate excretion
- Ectopic ACTH production by thymic and appendiceal neuroendocrine tumors – two case reports
- New onset diabetes with diabetic ketoacidosis in a child with multisystem inflammatory syndrome due to COVID-19
