Abstract
Background:
Adenocorticotropic hormone (ACTH)-dependent Cushing’s syndrome in infancy is extremely rare. We describe the case of a sacro-coccygeal ectopic ACTH-secreting immature teratoma in an infant who also presented the triad of defects characteristic of Currarino syndrome.
Case presentation:
A girl was born with a large immature teratoma in the sacro-coccygeal region associated with anal atresia. At the age of 7 days, the concentration of α-fetoprotein (AFP) was above the age-specific normal range. Two non-radical surgical excisions of the tumour were performed. At the age of 7 months, she developed polyphagia, acne, hirsutism, hypertension and hypokalemia with elevated ACTH and absence of serum cortisol circadian rhythm. Immunostaining of tumour tissue showed ACTH-immunoreactive cells. Due to unsuccessful therapy with ketoconazole and resistance to antihypertensive medications [blood pressure (BP) 210/160 mmHg], metyrapone was administered, which controlled her ACTH and cortisol levels in the normal range. Following further removal of tumour bulk after three operations during the first year of life, there was a decrease of BP to normal values.
Conclusions:
A rare case of ectopic ACTH syndrome causing Cushing’s syndrome in infancy in the context of Currarino syndrome is reported. Radical surgery has resulted in excision of the tumour and current control of Cushing’s syndrome.
Acknowledgments
The case was presented at the 54th Annual Meeting ESPE, Barcelona, Spain.
Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.
Research funding: None declared.
Employment or leadership: None declared.
Honorarium: None declared.
Competing interests: The funding organisation(s) played no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the report for publication.
References
1. Raghavan D. Germ cell tumors. London: BC Decker Inc, 2003:37.Search in Google Scholar
2. Raghavan D. Germ cell tumors. London: BC Decker Inc, 2003:74.Search in Google Scholar
3. Coran AG, Caldamone A, Adzick NS, Krummel TM, Laberge JM, Shamberger R. Pediatric surgery, 7th ed. Saint Louis, MO: Mosby, 2012: 507.Search in Google Scholar
4. Rescorla FJ, Sawin RS, Coran AG, Dillon PW, Azizkhan RG. Long-term outcome for infants and children with sacrococcygeal teratoma: a report from the Children’s Cancer Group. J Pediatr Surg 1998;33:171–6.10.1016/S0022-3468(98)90426-2Search in Google Scholar
5. Rescorla FJ. Pediatric germ cell tumors. Semin Surg Oncol 1999;16:144–58.10.1002/(SICI)1098-2388(199903)16:2<144::AID-SSU6>3.0.CO;2-MSearch in Google Scholar
6. La Vecchia C, Morris HB, Draper GJ. Malignant ovarian tumours in childhood in Britain, 1962–78. Br J Cancer. 1983;48:363–74.10.1038/bjc.1983.201Search in Google Scholar
7. Lynch SA, Wang Y, Strachan T, Burn J, Lindsay S. Autosomal dominant sacral agenesis: Currarino syndrome. J Med Genet 2000;37:561–6.10.1136/jmg.37.8.561Search in Google Scholar
8. Akay S, Battal B, Karaman B, Bozkurt Y. Complete Currarino syndrome recognized in adulthood. J Clin Imaging Sci 2015; 5:1–3.10.4103/2156-7514.152339Search in Google Scholar
9. Salunke P, Bhansali A, Dutta P, Bansal A, Gupta K, et al. Congenital immature teratoma mimicking Cushing’s disease. Pediatr Neurosurg 2010;46:46–50.10.1159/000315002Search in Google Scholar
10. Moreno-Fernández J, Gutiérrez-Alcántara C, Gálvez Moreno MA, Jiménez-Reina L, Castaño JP, et al. Corticotrophin-dependent Cushing syndrome due to sacrococcygeal teratoma detected by [18F] fluorodeoxyglucose positron emission tomography. J Clin Endocrinol Metab 2008;93:3282–3.10.1210/jc.2008-0458Search in Google Scholar
11. Norris HJ, Zirkin HJ, Benson WL. Immature (malignant) teratoma of the ovary: a clinical and pathologic study of 58 cases. Cancer 1976;37:2359–72.10.1097/00006254-197701000-00025Search in Google Scholar
12. Blohm ME, Vesterling-Horner D, Calaminus G, Gobel U. Alpha 1-fetoprotein (AFP) reference values in infants up to 2 years of age. Pediatr Hematol Oncol 1998;15:135–42.10.3109/08880019809167228Search in Google Scholar
13. Nieman LK, Biller BM, Findling JW, Newell-Price J, Savage MO, et al. The diagnosis of Cushing’s syndrome: an endocrine society clinical practice guideline. J Clin Endocinol Metab 2008;93:1526–40.10.1210/jc.2008-0125Search in Google Scholar
14. Hoppmann J, Wagner IV, Junghans G, Wudy SA, Buchfelder M, et al. How early can one diagnose Cushing’s disease? An early diagnosis in a case of prepubertal Cushing’s disease. J Pediatr Endocrinol Metab 2014;27:1043–7.10.1515/jpem-2014-0230Search in Google Scholar PubMed
15. Savage MO, Storr HL. Pediatric Cushing’s disease: management issues. Ind J Endocrinol Metab 2012;16:171–5.10.4103/2230-8210.104032Search in Google Scholar PubMed PubMed Central
16. Newell-Price J, Bertagna X, Grossman AB, Nieman LK. Cushing’s syndrome. Lancet 2006;367:1605–17.10.1093/med/9780199235292.003.0583Search in Google Scholar
17. Storr HL, Chan LF, Grossman AB, Savage MO. Paediatric Cushing’s syndrome: epidemiology, investigation and therapeutic advances. Trends Endocrinol Metab 2007;18:167–74.10.1016/j.tem.2007.03.005Search in Google Scholar PubMed
18. Sharma ST, Nieman LK, Feelders RA. Cushing’s syndrome: epidemiology and developments in disease management. Clin Epidemiol 2015;7:281–93.10.2147/CLEP.S44336Search in Google Scholar PubMed PubMed Central
19. Savage MO, Lienhardt A, Lebrethon MC, Johnston LB, Huebner A, et al. Cushing’s disease in childhood: presentation, investigation, treatment and long-term outcome. Horm Res 2001;55:24–30.10.1159/000063459Search in Google Scholar PubMed
20. Goldberg AS, Stein R, Merritt NH, Inculet R, Van Uum S. A pediatric patient with Cushing syndrome caused by ectopic ACTH syndrome and concomitant pituitary incidentalomas. J Pediatr Endocrinol Metab 2014;27:123–8.10.1515/jpem-2013-0070Search in Google Scholar PubMed
21. Savage MO, Storr LH. Fundamental principles of clinical and biochemical evaluation underlie the diagnosis and therapy of Cushing’s syndrome. J Pediatr Endocrinol Metab 2014;27:1029–31.10.1515/jpem-2014-0400Search in Google Scholar PubMed
22. Feelders RA, Hofland LJ, de Herder WW. Medical treatment of Cushing’s syndrome: adrenal-blocking drugs and ketaconazole. Neuroendocrinology 2010;2:111–5.10.1159/000314292Search in Google Scholar PubMed
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