Abstract
OBJECTIVE
Thyroid hemiagenesis is a rare congenital disorder characterized by the absence of a lobe and/or of isthmus. Studies on the association between thyroid hemiagenesis, Graves’ disease and differentiated thyroid cancer are rare.
CASE PRESENTATION
We describe the medical and surgical history of a patient in whom a molecular evaluation was performed. A 36-year-old man presented with symptoms and signs of hyperthyroidism of a few months’ duration. Hyperthyroidism was confirmed biochemically and anti-TSH-receptor antibodies were positive. Thyroid ultrasonography showed no left lobe and demonstrated a diffused enlargement of the right lobe; an ipoechoic, non-homogenous nodule 15 millimeters in size was identified in the middle part of the lobe. A 99mTc-pertechnetate thyroid scintigraphy (111 MBq) confirmed thyroid hemiagenesis due to the absence of the left lobe. Treatment with methimazole (30mg/day) was started. As the patient’s hyperthyroidism improved, he underwent fine-needle needle aspiration cytology (FNAC) of the right nodule. Cytology was suspicious for malignancy (THY4) and the patient was referred for surgery. Histopathological findings revealed a papillary thyroid carcinoma. The molecular analysis did not show PAX8 or TSHR mutations in the thyroid tissue nor mutations of BRAF, H-RAS, N-RAS or K-RAS genes in the tumor.
CONCLUSION
Though thus far studies on the association of thyroid hemiagenesis, Graves’ disease and differentiated thyroid cancer are extremely rare, the possibility of the development of thyroid cancer must be taken into account in patients affected by thyroid hemiagenesis and the nodular variant of Graves’ disease.
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Karabay N, Comlekci A, Canda MS, Bayraktar F, Degirmenci B, 2003 Thyroid Hemiagenesis with Multinodular Goiter: A Case Report and Review of the Literature. Endocr J 50: 409–413.
Greening WP, Sarker SK, Osborne MP, 1980 Hemiagenesis of the thyroid gland. Br J Surg 67: 445–448.
Tonacchera M, Banco ME, Montanelli L, et al, 2007 Genetic analysis of the PAX8 gene in children with congenital hypothyroidism and dysgenetic or eutopic thyroid glands: identification of a novel sequence variant. Clin Endocrinol (Oxf) 67: 34–40.
Shaha AR, Gujarati R, 1997 Thyroid hemiagenesis. J Surg Oncol 65: 137–140.
Ammaturo C, Cerrato C, Duraccio S, et al, 2007 Thyroid hemiagenesis associated with Flajani’s disease and papillary carcinoma. A case report. Chir Ital 59: 263–267.
Szczepanek-Parulska E, Szaflarski W, Piątek K, et al, 2013 Alternative 3′ acceptor site in the exon 2 of human PAX8 gene resulting in the expression of unknown mRNA variant found in thyroid hemiagenesis and some types of cancers. Acta Biochim Pol 60: 573–578.
Castanet M, Leenhardt L, Léger J, et al, 2005 Thyroid hemiagenesis is a rare variant of thyroid dysgenesis with a familial component but without Pax8 mutations in a cohort of 22 cases. Pediatr Res 57: 908–913.
Pizzini AM, Papi G, Corrado S, Carani C, Roti E, 2005 Thyroid hemiagenesis and incidentally discovered papillary thyroid cancer: Case report and review of the literature. J Endocrinol Invest 28: 66–71.
Melnick JC, Stemkowski PE, 1981 Thyroid hemiagenesis (hockey stick sign): a review of the world literature and a report of four cases. J Clin Endocrinol Metab 52: 247–251.
Mikosch P, Gallowitsch HJ, Kresnık E, Molnar M, Gomez I, Lind P, 1999 Thyroid hemiagenesis in an endemic goiter area diagnosed by ultrasonography: Report of sixteen patients. Thyroid 9: 1075–1084.
McHenry CR, Walfish PG, Rosen IB, Lawrence AM, Paloyan E, 1995 Congenital thyroid hemiagenesis. Am Surg 61: 634–639.
Lee YS, Yun JS, Jeong JJ, Nam KH, Chung WY, Park CS, 2008 Thyroid hemiagenesis associated with thyroid adenomatous hyperplasia and papillary thyroid carcinoma. Thyroid 18: 381–382.
Hamburger JI, Hamburger SW, 1970 Thyroidal hemiagenesis. Report of a case and commnets on clinical ramifications. Arch Surg 100: 319–320.
Harada T, Nishikawa Y, Ito K, 1972 Aplasia of one thyroid lobe. Am J Surg 124: 617–619.
Khatri VP, Espinosa MH, Harada WA, 1992 Papillary adenocarcinoma in thyroid hemiagenesis. Head Neck 14: 312–315.
Huang SM, Chen HD, Wen TY, Kun MS, 2002 Right thyroid hemiagenesis associated with papillary thyroid cancer and an ectopic prelaryngeal thyroid: a case report. J Formos Med Assoc 101: 368–371.
Berni Canani F, Dall’Olio D, Chiarini V, Casadei GP, Papini E, 2008 Papillary carcinoma of a thyroglossal duct cyst in a patient with thyroid hemiagenesis: effectiveness of conservative surgical treatment. Endocr Pract 14: 465–469.
Karatag GY, Albayrak ZK, Önay HK, Karatağ O, Peker Ö, 2013 Coexistence of thyroid hemiagenesis, nodular goitre and papillary carcinoma. Kulak Burun Bogaz Ihtis Derg 23: 115–118.
Vayisoglu Y, Ozcan C, Gen R, Eti CM, Sut H, Gorur K, 2013 Thyroid isthmus agenesis associated with thyroid papillary carcinoroid isthmus agenesis associated with thyroid papillary carcinoma. J Craniofac Surg 24: 428–429.
Wang J, Gao MM, Song C, 2014 Thyroid hemiagenesis associated with medullary or papillary carcinoma: Two cases report. Head Neck 36: 106–111.
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Campennì, A., Giovinazzo, S., Curtò, L. et al. Thyroid hemiagenesis, Graves’ disease and differentiated thyroid cancer: a very rare association: case report and review of literature. Hormones 14, 451–458 (2015). https://doi.org/10.14310/horm.2002.1606
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DOI: https://doi.org/10.14310/horm.2002.1606