title: Thyroid hemiagenesis, Graves' disease and differentiated thyroid cancer: a very rare association: case report and review of literature.
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.
  
  
  METHODS
  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 (30 mg/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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Biomedical Sciences and of Morphological and Functional Images, Unit of Nuclear Medicine, Italy.
authors.forename: Alfredo
authors.initials: A
authors.lastname: Campennì
authors.affiliation: Department of Clinical and Experimental Medicine, Unit of Endocrinology, University of Messina, Messina, Italy.
authors.forename: Salvatore
authors.initials: S
authors.lastname: Giovinazzo
authors.affiliation: Unit of Endocrinology, Hospital of Scilla, Reggio Calabria, Calabria; 4Department of Pathology, University of Messina; Italy.
authors.forename: Lorenzo
authors.initials: L
authors.lastname: Curtò
authors.affiliation: Department of Clinical and Experimental Medicine, Unit of Endocrinology, University of Messina, Messina, Italy.
authors.forename: Ernesto
authors.initials: E
authors.lastname: Giordano
authors.affiliation: Unit of Endocrinology, Hospital of Scilla, Reggio Calabria, Calabria; 4Department of Pathology, University of Messina; Italy.
authors.forename: Maria
authors.initials: M
authors.lastname: Trovato
authors.affiliation: Department of Clinical and Experimental Medicine, Unit of Endocrinology, University of Messina, Messina, Italy.
authors.forename: Rosaria M
authors.initials: RM
authors.lastname: Ruggeri
authors.affiliation: Department of Biomedical Sciences and of Morphological and Functional Images, Unit of Nuclear Medicine, Italy.
authors.forename: Sergio
authors.initials: S
authors.lastname: Baldari
mesh_terms: D000328:Adult; D002277:Carcinoma / Q000453:epidemiology / Q000473:pathology*; D002291:Carcinoma, Papillary; D015897:Comorbidity; D006111:Graves Disease / Q000175:diagnosis* / Q000453:epidemiology; D006801:Humans; D008297:Male; D000077273:Thyroid Cancer, Papillary; D050033:Thyroid Dysgenesis / Q000453:epidemiology / Q000473:pathology*; D013964:Thyroid Neoplasms / Q000453:epidemiology / Q000473:pathology*