, Volume 14, Issue 3, pp 451–458 | Cite as

Thyroid hemiagenesis, Graves’ disease and differentiated thyroid cancer: a very rare association: case report and review of literature

  • Alfredo CampennìEmail author
  • Salvatore Giovinazzo
  • Lorenzo Curtò
  • Ernesto Giordano
  • Maria Trovato
  • Rosaria M. Ruggeri
  • Sergio Baldari
Case report



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.


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.


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.

Key words

Differentiated thyroid cancer Graves’ disease Radioiodine treatment Thyroid hemiagenesis 


  1. 1.
    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.CrossRefGoogle Scholar
  2. 2.
    Greening WP, Sarker SK, Osborne MP, 1980 Hemiagenesis of the thyroid gland. Br J Surg 67: 445–448.CrossRefGoogle Scholar
  3. 3.
    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.CrossRefGoogle Scholar
  4. 4.
    Shaha AR, Gujarati R, 1997 Thyroid hemiagenesis. J Surg Oncol 65: 137–140.CrossRefGoogle Scholar
  5. 5.
    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.PubMedGoogle Scholar
  6. 6.
    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.PubMedGoogle Scholar
  7. 7.
    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.CrossRefGoogle Scholar
  8. 8.
    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.CrossRefGoogle Scholar
  9. 9.
    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.CrossRefGoogle Scholar
  10. 10.
    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.CrossRefGoogle Scholar
  11. 11.
    McHenry CR, Walfish PG, Rosen IB, Lawrence AM, Paloyan E, 1995 Congenital thyroid hemiagenesis. Am Surg 61: 634–639.PubMedGoogle Scholar
  12. 12.
    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.CrossRefGoogle Scholar
  13. 13.
    Hamburger JI, Hamburger SW, 1970 Thyroidal hemiagenesis. Report of a case and commnets on clinical ramifications. Arch Surg 100: 319–320.CrossRefGoogle Scholar
  14. 14.
    Harada T, Nishikawa Y, Ito K, 1972 Aplasia of one thyroid lobe. Am J Surg 124: 617–619.CrossRefGoogle Scholar
  15. 15.
    Khatri VP, Espinosa MH, Harada WA, 1992 Papillary adenocarcinoma in thyroid hemiagenesis. Head Neck 14: 312–315.CrossRefGoogle Scholar
  16. 16.
    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.PubMedGoogle Scholar
  17. 17.
    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.CrossRefGoogle Scholar
  18. 18.
    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.CrossRefGoogle Scholar
  19. 19.
    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.CrossRefGoogle Scholar
  20. 20.
    Wang J, Gao MM, Song C, 2014 Thyroid hemiagenesis associated with medullary or papillary carcinoma: Two cases report. Head Neck 36: 106–111.CrossRefGoogle Scholar

Copyright information

© Hellenic Endocrine Society 2015

Authors and Affiliations

  • Alfredo Campennì
    • 1
    Email author
  • Salvatore Giovinazzo
    • 2
  • Lorenzo Curtò
    • 2
  • Ernesto Giordano
    • 3
  • Maria Trovato
    • 4
  • Rosaria M. Ruggeri
    • 2
  • Sergio Baldari
    • 1
  1. 1.Unità di Medicina Nucleare, Dipartimento di Scienze Biomediche e delle Immagini Morfologiche e Funzionali, Padiglione EPoliclinico Universitario “G. Martino”MessinaItaly
  2. 2.Department of Clinical and Experimental Medicine, Unit of EndocrinologyUniversity of MessinaMessinaItaly
  3. 3.Unit of EndocrinologyHospital of ScillaReggio Calabria, CalabriaItaly
  4. 4.Department of PathologyUniversity of MessinaMessinaItaly

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