Objective To investigate the clinical characteristics, pathogenesis, diagnosis, and treatment of patients with congenital thyroid hemiagenesis （TH） complicated with Graves’ disease and thyroid nodule. Methods A retrospective analysis was conducted on a patient with right TH associated with Graves’ disease and left thyroid nodule, and relevant literature was reviewed. Results A patient presented to the clinic with hyperthyroidism. Thyroid function examination and thyroid 131I uptake test suggested Graves’ disease. Thyroid ultrasound scan demonstrated absence of the right lobe with left thyroid nodule （TI-RADs Ⅳb）. Methimazole was used to control hyperthyroidism and thyroid nodule were followed. Conclusion The combination of TH, Graves’ disease, and thyroid nodule is extremely rare. A better comprehension of such patients through case report and literature review is essential for clinical intervention.
[1] Ruchala M, Szczepanek E, Szaflarski W, et al.Increased risk of thyroid pathology in patients with thyroid hemiagenesis: results of a large cohort case-control study[J]. Eur J Endocrinol, 2010, 162(1): 153-160.
[2] Maiorana R, Carta A, Floriddia G, et al.Thyroid hemiagenesis: prevalence in normal children and effect on thyroid function[J]. J Clin Endocrinol Metab, 2003, 88(4): 1534-1536.
[3] Shabana W, Delange F, Freson M, et al.Prevalence of thyroid hemiagenesis: ultrasound screening in normal children[J]. Eur J Pediatr, 2000, 159(6): 456-458.
[4] Gursoy A, Anil C, Unal AD, et al.Clinical and epidemiological characteristics of thyroid hemiagenesis: ultrasound screening in patients with thyroid disease and normal population[J]. Endocrine, 2008, 33(3): 338-341.
[5] Alqahtani SM, Alanesi S, Alalawi Y.Thyroid hemiagenesis with primary hyperparathyroidism or papillary thyroid carcinoma: a report of two cases and literature review[J]. Clin Case Rep, 2021, 9(3): 1615-1620.
[6] Shah RK, Bohara G, Juveria F, et al.Hypothyroidism in thyroid hemiagenesis: a case report[J]. Cureus, 2022, 14(3): 1-3.
[7] Kartini D, Panigoro SS, Ham MF, et al.Thyroid hemiagenesis associated with Hurthle cell carcinoma: a case report[J]. Int J Surg Case Rep, 2021, 86: 1-4.
[8] Wu YH, Wein RO, Carter B.Thyroid hemiagenesis: a case series and review of the literature[J]. Am J Otolaryngol, 2012, 33(3): 299-302.
[9] Ammaturo C, Cerrato C, Duraccio S, et al.[Thyroid hemiagenesis associated with Flajani's disease and papillary carcinoma. A case report][J]. Chir Ital, 2007, 59(2): 263-267.
[10] 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[J]. Hormones (Athens), 2015, 14(3): 451-458.
[11] Kim BK, Lee JW, Jung MJ, et al.A case of thyroid hemiagenesis associated with Graves’ disease and follicular neoplasm[J]. J Med Cases, 2015, 6(8): 385-387.
[12] Gessl A, Raber W, Staudenherz A, et al.Higher frequency of thyroid tumors in the right lobe[J]. Endocr Pathol, 2010, 21(3): 186-189.
[13] De Sanctis V,Soliman AT,Di Maio S, et al.Thyroid hemiagenesis from childhood to adulthood: review of literature and personal experience[J]. Pediatr Endocrinol Rev, 2016, 13(3): 612-619.
[14] Szczepanek E, Ruchala M, Szaflarski W, et al.FOXE1 polyalanine tract length polymorphism in patients with thyroid hemiagenesis and subjects with normal thyroid[J]. Horm Res Paediatr, 2011, 75(5): 329-334.
[15] Kizys MM, Nesi-França S, Cardoso MG, et al.The absence of mutations in homeobox candidate genes HOXA3, HOXB3, HOXD3 and PITX2 in familial and sporadic thyroid hemiagenesis[J]. J Pediatr Endocrinol Metab, 2014, 27(3-4): 317-322.
[16] McLean R, Howard N, Murray IP. Thyroid dysgenesis in monozygotic twins: variants identified by scintigraphy[J]. Eur J Nucl Med, 1985, 10(7-8): 346-348.
[17] Castanet M, Leenhardt L, Léger J, et al.Thyroid hemiagenesis is a rare variant of thyroid dysgenesis with a familial component but without Pax8 mutations in a cohort of 22 cases[J]. Pediatr Res, 2005, 57(6): 908-913.
[18] Vassart G,Dumont JE.Thyroid dysgenesis:multigenic or epigenetic… or both?[J].Endocrinology,2005,146(12):5035-5037.
[19] Macchia PE, Lapi P, Krude H, et al.PAX8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesis[J]. Nat Genet, 1998, 19(1): 83-86.
[20] Clifton-Bligh RJ, Wentworth JM, Heinz P, et al.Mutation of the gene encoding human TTF-2 associated with thyroid agenesis, cleft palate and choanal atresia[J]. Nat Genet, 1998, 19(4): 399-401.
[21] Fernández LP, López-Márquez A, Santisteban P.Thyroid transcription factors in development, differentiation and disease[J]. Nat Rev Endocrinol, 2015, 11(1): 29-42.
[22] Baldini M, Orsatti A, Cantalamessa L.A singular case of Graves' disease in congenital thyroid hemiagenesis[J]. Horm Res, 2005, 63(3): 107-110.
[23] Faulkner J, Varadharajan K, Choudhury N.A UK reported case of Graves' disease with thyroid hemiagenesis[J]. BMJ Case Rep, 2019, 12(8): 1-3.
[24] Cansu GB,Taşkıran B,Bahçeci T.Thyroid hemiagenesisassociated with Graves' disease: a case report and review of the literature[J]. Acta Endocrinol (Buchar), 2017, 13(3): 342-348.
