Thyroid hemiagenesis: description of two clinical cases, anatomical review, and critical synthesis of the literature
Enzo Greco de Paula, Júlia Laudares Soares, Fabio de Aquino Capelli, Leandro Luongo Matos
Abstract
Introduction: Thyroid hemiagenesis (THA) is a rare congenital thyroid condition in which one of the lobes of the gland fails to develop. The etiology remains uncertain, with the main hypotheses suggesting genetic alterations in thyroid embryogenesis associated with failure of the gland to descend to its final position. Additionally, the condition may be present in both asymptomatic and euthyroid patients, as well as in those with thyroid diseases such as hyperthyroidism, nodular goiter, and neoplasia. Objective: To critically review the literature on the subject, detailing known aspects of anatomy in THA, and the demographic findings of patients with this condition, while also adding two case reports to the literature. Methods: An extensive, systematized review of the MEDLINE database was carried out using the descriptor “thyroid hemiagenesis”. A total of 214 related articles up to October 2022 were retrieved. Out of these, 154 described new cases in the literature and contained demographic and epidemiological data of the reported patients. Studies without new case reports, systematic reviews, and those lacking described or available demographic data—rendered inadmissible for this review—were excluded from the analysis. Results: Our review identified the following prevalence and characteristics: 520 cases of THA were reported, and in 50 of them, absence of the isthmus also coexisted. Several thyroid conditions and statuses have been associated with hemiagenesis of the gland. Conclusion: THA is more prevalent in female, young, and euthyroid patients. Although rare, it is vital for head and neck surgeons to be aware of this possibility, thereby avoiding unnecessary manipulation of the absent thyroid bed and, consequently, preventing complications.
Keywords
References
1. Szczepanek-Parulska E, Budny B, Borowczyk M, Zawadzka K, Sztromwasser P, Ruchała M. Compound heterozygous GLI3 variants in siblings with thyroid hemiagenesis. Endocrine. 2021;71(2):514-9. http://dx.doi.org/10.1007/s12020- 020-02422-1. PMid:32696176.
2. Ruchala M, Szczepanek E, Szaflarski W, Moczko J, Czarnywojtek A, Pietz L, Nowicki M, Niedziela M, Zabel M, Köhrle J, Sowinski J. Increased risk of thyroid pathology in patients with thyroid hemiagenesis: results of a large cohort case-control study. Eur J Endocrinol. 2010;162(1):153-60. http://dx.doi.org/10.1530/EJE-09-
0590. PMid:19846597.
3. Lesi OK, Thapar A, Appaiah NNB, Iqbal MR, Kumar S, Maharaj D, Saad Abdalla Al-Zawi A, Dindyal S. Thyroid hemiagenesis: narrative review and clinical implications. Cureus. 2022;14(2):e22401. http://dx.doi.org/10.7759/cureus.22401. PMid:35371763.
4. Melnick JC, Stemkowski PE. Thyroid hemiagenesis (hockey stick sign): a review of the world literature and a report of four cases. J Clin Endocrinol Metab. 1981;52(2):247-51. http://dx.doi.org/10.1210/jcem-52-2-247. PMid:7462390.
5. Shabana W, Delange F, Freson M, Osteaux M, De Schepper J. Prevalence of thyroid hemiagenesis: ultrasound screening in normal children. Eur J Pediatr. 2000;159(6):456-8. http://dx.doi.org/10.1007/s004310051307. PMid:10867854.
6. Gursoy A, Anil C, Unal AD, Demirer AN, Tutuncu NB, Erdogan MF. Clinical and epidemiological characteristics of thyroid hemiagenesis: ultrasound screening in patients with thyroid disease and normal population. Endocrine. 2008;33(3):338-41. http://dx.doi.org/10.1007/s12020-008-9095-5. PMid:19016002.
7. Velayutham K, Mahadevan S, Velayutham L, Jayapaul M, Appakalai B, Kannan A. A case of hemiagenesis of thyroid with double ectopic thyroid tissue. Indian J Endocrinol Metab. 2013;17(4):756-8. http://dx.doi.org/10.4103/2230-8210.113777. PMid:23961502.
8. Campennì A, Giovinazzo S, Curtò L, Giordano E, Trovato M, Ruggeri RM, Baldari S. Thyroid hemiagenesis, Graves’ disease and differentiated thyroid cancer: a very rare association: case report and review of literature. Hormones (Athens). 2015;14(3):451-8. http://dx.doi.org/10.14310/horm.2002.1606. PMid:26188237.
9. Bhartiya S, Verma A, Basu S, Shukla V. Congenital thyroid hemiagenesis with multinodular goiter. Acta Radiol Short Rep. 2014;3(9):2047981614530286. http://dx.doi.org/10.1177/2047981614530286. PMid:25379177.
10. Sasaki H, Futata T, Ninomiya H, Higashi Y, Okumura MCT. CT and MR imagings of single thyroid lobe (thyroid hemiagenesis) with Graves’ disease. Postgrad Med J. 1991;67(789):701. http://dx.doi.org/10.1136/pgmj.67.789.701. PMid:1924071.
11. Peña S, Robertson H, Walvekar RR. Thyroid hemiagenesis: report of a case and review of literature. Indian J Otolaryngol Head Neck Surg. 2011;63(2):198-200. http://dx.doi.org/10.1007/s12070-011-0246-2. PMid:22468261.
12. Shaha AR, Gujarati R. Thyroid hemiagenesis. J Surg Oncol. 1997;65(2):137-40. http://dx.doi.org/10.1002/(SICI)1096-9098(199706)65:2<137::AID-JSO12>3.0.CO;2-2. PMid:9209527.
13. Wang M, Hou L, Chen M, Ren L, Tang P, Zhang Y, Jiang J. Thyroid hemiagenesis and Hashimoto’s thyroditis-diagnostic and treatment pitfalls. World J Surg Oncol. 2017;15(1):182. http://dx.doi.org/10.1186/s12957-017-1250-0. PMid:28985747.
14. Matsumura LK, Russo EM, Dib SA, Maciel RM, Chacra AR. Hemiagenesis of the thyroid gland and T3 hyperthyroidism. Postgrad Med J. 1982;58(678):244-6. http://dx.doi.org/10.1136/pgmj.58.678.244. PMid:7111107.
15. Sharma R, Mondal A, Popli M, Sahoo M, Malhotra N, Soni S. Hemiagenesis of the thyroid associated with chronic lymphocytic thyroiditis. Clin Nucl Med. 2001;26(6):506-8. http://dx.doi.org/10.1097/00003072-200106000-00005. PMid:11353296.
16. Isreb S, Alem F, Smith D. Left thyroid hemiagenesis in a patient with primary hyperparathyroidism. BMJ Case Rep. 2010;2010(1):bcr0320102864. http://dx.doi. org/10.1136/bcr.03.2010.2864. PMid:22767679.
17. Kocakusak A, Akinci M, Arikan S, Sunar H, Yucel AF, Senturk O. Left thyroid lobe hemiagenesis with hyperthyroidism: report of a case. Surg Today. 2004;34(5):437-9. http://dx.doi.org/10.1007/s00595-003-2726-9. PMid:15108083.
18. Cansu GB, Taşkıran B, Bahçeci T. Thyroid hemiagenesis associated with Graves’ disease: a case report and review of the literature. Acta Endocrinol. 2017;13(3):342-8. http://dx.doi.org/10.4183/aeb.2017.342. PMid:31149198.
19. De Sanctis V, Soliman AT, Di Maio S, Elsedfy H, Soliman NA, Elalaily R. Thyroid hemiagenesis from childhood to adulthood: review of literature and personal experience. Pediatr Endocrinol Rev. 2016;13(3):612-9. PMid:27116848.
20. Pizzini AM, Papi G, Corrado S, Carani C, Roti E. Thyroid hemiagenesis and incidentally discovered papillary thyroid cancer: case report and review of the literature. J Endocrinol Invest. 2005;28(3):66-71. http://dx.doi.org/10.1007/ BF03345532. PMid:15816374.
21. Maiorana R, Carta A, Floriddia G, Leonardi D, Buscema M, Sava L, Calaciura F, Vigneri R. Thyroid hemiagenesis: prevalence in normal children and effect on thyroid function. J Clin Endocrinol Metab. 2003;88(4):1534-6. http://dx.doi. org/10.1210/jc.2002-021574. PMid:12679435.
22. Rajmil HO, Rodríguez-Espinosa J, Soldevila J, Ordóñez-Llanos J. Thyroid hemiagenesis in two sisters. J Endocrinol Invest. 1984;7(4):393-4. http://dx.doi. org/10.1007/BF03351023. PMid:6438224.
23. Hamburger JI, Hamburger SW. Thyroidal hemiagenesis: report of a case and comments on clinical ramifications. Arch Surg. 1970;100(3):319-20. http://dx.doi. org/10.1001/archsurg.1970.01340210095026. PMid:5414524.
24. Çitgez B, Yetkin G, Uludağ M, Akgün İ, Kartal A, Ferhatoğlu F, Kabukçuoğlu F, Akçakaya A. Thyroid hemiagenesis: a case report. Turk J Surg. 2019;35(4):329-31. http://dx.doi.org/10.5578/turkjsurg.3228. PMid:32551432.
25. Park IH, Kwon SY, Jung KY, Woo JS. Thyroid hemiagenesis: clinical significance in the patient with thyroid nodule. J Laryngol Otol. 2006;120(7):605-7. http://dx.doi.org/10.1017/S0022215106001101. PMid:16834809.
26. Büyükdereli G, Guney IB, Kibar M, Kinaci C. Thyroid hemiagenesis: a report of three cases and review of the literature. Ann Nucl Med. 2005;19(2):147-50. http://dx.doi.org/10.1007/BF03027394. PMid:15909495.
27. Chuang KF, Lee JC, Lee CJ. Thyroid hemiagenesis accompanying an ectopic lingual thyroid. Ear Nose Throat J. 2021;1455613211036229. http://dx.doi. org/10.1177/01455613211036229. PMid:34525880.
28. Sereke SG, Oriekot A, Bongomin F. Thyroid hemiagenesis with a TI-RADS 2 nodule in the contralateral lobe. Thyroid Res. 2021;14(1):10. http://dx.doi.org/10.1186/ s13044-021-00101-5. PMid:33931088.
29. Kartini D, Panigoro SS, Ham MF, Harahap AS, Rasyid SH, Marcevianto KV. Thyroid hemiagenesis associated with Hurthle cell carcinoma: a case report. Int J Surg Case Rep. 2021;86:106372. http://dx.doi.org/10.1016/j.ijscr.2021.106372. PMid:34507192.
30. Schneider C, Dietlein M, Faust M, Drzezga A, Schmidt M. Thyroid hemiagenesis is combined with a variety of thyroid disorders. Nukl Nucl Med. 2019;58(3):265-71. http://dx.doi.org/10.1055/a-0830-4425. PMid:30974469.
31. Mikosch P, Weixlbaumer V, Irrgang M, Aistleitner A, Trifina-Mikosch E. Hemiagenesis of the thyroid gland detected by coincidence-what is the clinical relevance? Case report and review of the literature. Wien Med Wochenschr. 2020;170(15-16):403-9. http://dx.doi.org/10.1007/s10354-020-00783-w. PMid:33026543.
32. Wang J, Gao L, Song C. Thyroid hemiagenesis associated with medullary or papillary carcinoma: report of cases. Head Neck. 2014;36(11):E106-11. http://dx.doi.org/10.1002/hed.23501. PMid:24115043.
33. Hsieh KC, Patel M, Palacios E, Neitzschman HR. Thyroid hemiagenesis. Ear Nose Throat J. 2012;91(5):190-4. http://dx.doi.org/10.1177/014556131209100505. PMid:22614551.
34. Gandla S, Halkud R, Siddappa KT, Murthy SP, Ray SL, Samriddhi, Greeshma P. Thyroid hemiagenesis and papillary carcinoma: a rare association. Indian J Surg Oncol. 2020;11(S1, Suppl. 1):84-6. http://dx.doi.org/10.1007/s13193-020-01068-9. PMid:33088136.
35. Peteiro-Gonzalez D, Cabezas-Agricola JM, Casanueva FF. [Thyroid hemiagenesis: report of five cases and literature review]. Endocrinol Nutr. 2013;60(8):e15-7. http://dx.doi.org/10.1016/j.endonu.2012.09.013. PMid:23333635.
36. Sari O, Ciftçi I, Törü M, Erbaş B. Thyroid hemiagenesis. Clin Nucl Med. 2000;25(10):766-8. http://dx.doi.org/10.1097/00003072-200010000-00002. PMid:11043712.
37. McHenry CR, Walfish PG, Rosen IB, Lawrence AM, Paloyan E. Congenital thyroid hemiagenesis. Am Surg. 1995;61(7):634-8. PMid:7793746.
38. Karabay N, Comlekci A, Canda MS, Bayraktar F, Degirmenci B. Thyroid hemiagenesis with multinodular goiter: a case report and review of the literature. Endocr J. 2003;50(4):409-13. http://dx.doi.org/10.1507/endocrj.50.409. PMid:14599114.
39. Ferrari CC, Lorenz K, Dionigi G, Dralle H. Surgical strategy for primary hyperparathyreoidism with thyroid hemiagenesis. Langenbecks Arch Surg. 2014;399(8):1077-81. http://dx.doi.org/10.1007/s00423-014-1228-0. PMid:25078534.
40. Jha PS, Rote-Kaginalkar V, Titare P, Jadhav MB. Hemiagenesis of thyroid with dual thyroid ectopia: a rare case report. Indian J Radiol Imaging. 2018;28(1):14-7. http://dx.doi.org/10.4103/ijri.IJRI_292_17. PMid:29692520.
41. Suzuki S, Midorikawa S, Matsuzuka T, Fukushima T, Ito Y, Shimura H, Takahashi H, Ohira T, Ohtsuru A, Abe M, Suzuki S, Yamashita S. Prevalence and Characterization of Thyroid Hemiagenesis in Japan: The Fukushima Health Management Survey. Thyroid Off J Am Thyroid Assoc. 2017;27(8):1011-6. http://dx.doi.org/10.1089/ thy.2016.0662. PMid:28657504.
42. Kada S, Tanaka M, Yasoda A. Parathyroid carcinoma in a patient with secondary hyperparathyroidism and thyroid hemiagenesis: a case report and review of the literature. Ear Nose Throat J. 2021;1455613211036240. http://dx.doi. org/10.1177/01455613211036240. PMid:34318689.
43. Oruci M, Ito Y, Buta M, Radisavljevic Z, Pupic G, Djurisic I, Dzodic R. Right thyroid hemiagenesis with adenoma and hyperplasia of parathyroid glands -case report. BMC Endocr Disord. 2012;12(1):29. http://dx.doi.org/10.1186/1472-6823-12-29. PMid:23148717.
44. Wu YHE, Wein RO, Carter B. Thyroid hemiagenesis: a case series and review of the literature. Am J Otolaryngol. 2012;33(3):299-302. http://dx.doi.org/10.1016/j. amjoto.2011.08.007. PMid:21925764.
45. Gurleyik G, Gurleyik E. Thyroid hemiagenesis associated with hyperthyroidism. Case Rep Otolaryngol. 2015;2015:829712. http://dx.doi.org/10.1155/2015/829712. PMid:26185699.
46. Alqahtani SM, Alanesi S, Alalawi Y. Thyroid hemiagenesis with primary hyperparathyroidism or papillary thyroid carcinoma: a report of two cases and literature review. Clin Case Rep. 2021;9(3):1615-20. http://dx.doi.org/10.1002/ ccr3.3856. PMid:33768901.
47. Yildiz M, Bozkurt MK. Thyroid hemiagenesis. J Adolesc Health. 2003;33(4):291-2. http://dx.doi.org/10.1016/S1054-139X(03)00132-0. PMid:14519572.
48. Chun S, Lee YS, Yu J. Thyroid imaging study in children with suspected thyroid dysgenesis. Ann Pediatr Endocrinol Metab. 2021;26(1):53-9. http://dx.doi. org/10.6065/apem.2040120.060. PMid:33819958.
49. Kirdak T, Gulcu B, Korun N. Thyroid hemiagenesis associated with retrosternal nodular goiter: a case report. Acta Med Iran. 2014;52(9):725-7. PMid:25325212.
50. Bosco D, Cammarata A, Cannarella R, Latino R, Lanteri R, Di Cataldo A, Calogero A. Thyroid hemiagenesis associated with multinodular goiter and Hashimoto’s thyroiditis. G Chir. 2017;38(6):291-4. http://dx.doi.org/10.11138/ gchir/2017.38.6.291. PMid:29442060.
51. Ayaz ÜY, Ayaz S, Döğen ME, Api A. Ultrasonographic and scintigraphic findings of thyroid hemiagenesis in a child: report of a rare male case. Case Rep Radiol. 2015;2015:917504. http://dx.doi.org/10.1155/2015/917504. PMid:25785218.
52. Nsame D, Chadli A, Hallab L, El Aziz S, El Ghomari H, Farouqi A. Thyroid hemiagenesis associated with Hashimoto’s thyroiditis. Case Rep Endocrinol. 2013;2013:414506. http://dx.doi.org/10.1155/2013/414506. PMid:24198979.
53. Gurleyik E, Dogan S, Cetin F, Gursoy F, Ipor AM. Toxic adenoma in a patient with thyroid hemiagenesis. Cureus. 2017;9(9):e1695. http://dx.doi.org/10.7759/ cureus.1695. PMid:29159003.
54. Sato H, Tsukahara K, Motohashi R, Wakiya M, Serizawa H, Kurata A. Thyroid carcinoma on the side of the absent lobe in a patient with thyroid hemiagenesis. Case Rep Otolaryngol. 2017;2017:4592783. http://dx.doi. org/10.1155/2017/4592783. PMid:29279781.
55. Reya N, Posocco D, Dadparvar S. Thyroid scintigraphy of a rare case of left thyroid lobe hemiagenesis with subacute thyroiditis. Clin Nucl Med. 2022;47(3):e294-5. http://dx.doi.org/10.1097/RLU.0000000000004017. PMid:35025799.
56. Aydogan F, Aydogan A, Akkucuk S, Ustun I, Gokce C. Thyroid hemiagenesis, ectopic submandibular thyroid tissue, and apparent persistent subclinical thyrotoxicosis. Thyroid Off J Am Thyroid Assoc. 2013;23(5):633-5. http://dx.doi.org/10.1089/ thy.2012.0079. PMid:23157170.
57. Verma A, Bhartiya SK, Basu SP, Shukla VK, Shukla RC. Congenital thyroid hemiagenesis with thyroid nodules-Role of TI-RADS to prevent long term thyroid replacement therapy. Int J Surg Case Rep. 2016;27:59-62. http://dx.doi. org/10.1016/j.ijscr.2016.07.055. PMid:27544726.
58. Mikosch P, Gallowitsch HJ, Kresnik E, Molnar M, Gomez I, Lind P. Thyroid hemiagenesis in an endemic goiter area diagnosed by ultrasonography: report of sixteen patients. Thyroid. 1999;9(11):1075-84. http://dx.doi.org/10.1089/ thy.1999.9.1075. PMid:10595455.
59. Korpal-Szczyrska M, Kosiak W, Swieton D. Prevalence of thyroid hemiagenesis in an asymptomatic schoolchildren population. Thyroid. 2008;18(6):637-9. http://dx.doi.org/10.1089/thy.2007.0408. PMid:18578613.
60. Ammar FA, Al-Badri MR, Zantout MS, Azar ST. Thyroid hemiagenesis coexisting with brain cavernoma and pituitary Rathke’s cleft cyst. J Postgrad Med. 2016;62(2):135-6. PMid:26767975.
61. Baldini M, Orsatti A, Cantalamessa L. A singular case of Graves’ disease in congenital thyroid hemiagenesis. Horm Res. 2005;63(3):107-10. PMid:15775712.
62. Kim HJ, Jo HS, Yoo EG, Chung IH, Kim SW, Lee KH, Chang YH. 22q11.2 Microduplication with thyroid hemiagenesis. Horm Res Paediatr. 2013;79(4):243-9. http://dx.doi.org/10.1159/000346411. PMid:23364243.
63. Szczepanek-Parulska E, Zybek-Kocik A, Woliński K, Czarnocka B, Ruchała M. Does TSH trigger the anti-thyroid autoimmune processes? Observation on a large cohort of naive patients with thyroid hemiagenesis. Arch Immunol Ther Exp. 2016;64(4):331-8. http://dx.doi.org/10.1007/s00005-016-0393-y. PMid:26975391.
64. Wu YHE, Wein RO, Carter B. Thyroid hemiagenesis with multinodular goiter: a case presentation and review of literature. Laryngoscope. 2010;120(Suppl. 4):S191. http://dx.doi.org/10.1002/lary.21655. PMid:21225789.
65. Shah RK, Bohara G, Juveria F, Mirza L. Hypothyroidism in thyroid hemiagenesis: a case report. Cureus. 2022;14(3):e23087. http://dx.doi.org/10.7759/cureus.23087. PMid:35464580.
66. Berker D, Ozuguz U, Isik S, Aydin Y, Ates Tutuncu Y, Akbaba G, Guler S. A report of ten patients with thyroid hemiagenesis: ultrasound screening in patients with thyroid disease. Swiss Med Wkly. 2010;140(7-8):118-21. http://dx.doi.org/10.4414/ smw.2010.12956. PMid:20033860.
67. Cakir M, Gonen S, Dikbas O, Ozturk B. Thyroid hemiagenesis with Graves’ disease, Graves’ ophthalmopathy and multinodular goiter. Intern Med. 2009;48(12):1047-9. http://dx.doi.org/10.2169/internalmedicine.48.1984. PMid:19525596.
68. Szczepanek-Parulska E, Budny B, Borowczyk M, Zhukov I, Szutkowski K, Zawadzka K, Tahir R, Minczykowski A, Niedziela M, Ruchała M. NKX2-5 variant in two siblings with thyroid hemiagenesis. Int J Mol Sci. 2022;23(6):3414. http://dx.doi. org/10.3390/ijms23063414. PMid:35328834.
69. Yang YS, Hong KH. Case of thyroid hemiagenesis and ectopic lingual thyroid presenting as goitre. J Laryngol Otol. 2008;122(8):e17. http://dx.doi.org/10.1017/ S0022215108003095. PMid:18577277.
70. Chang J, Gerscovich EO, Dublin AB, McGahan JP. Thyroid hemiagenesis: a rare finding. J Ultrasound Med Off J Am Inst Ultrasound Med. 2011;30(9):1309-10. http://dx.doi.org/10.7863/jum.2011.30.9.1309. PMid:21876103.
71. Kroeker TR, Stancoven KM, Preskitt JT. Parathyroid adenoma on the ipsilateral side of thyroid hemiagenesis. Proc Bayl Univ Med Cent. 2011;24(2):92-3. http://dx.doi.org/10.1080/08998280.2011.11928690. PMid:21566751.
72. Castanet M, Leenhardt L, Léger J, Simon-Carré A, Lyonnet S, Pelet A, Czernichow P, Polak M. 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. 2005;57(6):908-13. http://dx.doi.org/10.1203/01.PDR.0000161409.04177.36. PMid:15845640.
73. Faulkner J, Varadharajan K, Choudhury N. A UK reported case of Graves’ disease with thyroid hemiagenesis. BMJ Case Rep. 2019;12(8):e228094. http://dx.doi. org/10.1136/bcr-2018-228094. PMid:31377715.
74. Burman KD, Adler RA, Wartofsky L. Hemiagenesis of the thyroid gland. Am J Med. 1975;58(1):143-6. http://dx.doi.org/10.1016/0002-9343(75)90546-X. PMid:1172918.
75. Russotto JA, Boyar RM. Thyroid hemiagenesis. J Nucl Med Off Publ Soc Nucl Med. 1971;12(4):186-7. PMid:5550098.
76. Bough ID Jr, Greco T, Romanczuk B. Thyroid hemiagenesis. Ann Otol Rhinol Laryngol. 1994;103(4 Pt 1):328-30. http://dx.doi.org/10.1177/000348949410300412. PMid:8154778.
77. Nakamura S, Isaji M, Ishimori M. Thyroid hemiagenesis with postpartum silent thyroiditis. Intern Med. 2004;43(4):306-9. http://dx.doi.org/10.2169/ internalmedicine.43.306. PMid:15168773.
78. Prakash R, Narayanan RV, Chakravarty SK. Differentiation between suppressed thyroid tissue and thyroid hemiagenesis with Tc-99m pertechnetate radionuclide angiography. Clin Nucl Med. 1990;15(9):605-9. http://dx.doi. org/10.1097/00003072-199009000-00003. PMid:2170071.
79. Greening WP, Sarker SK, Osborne MP. Hemiagenesis of the thyroid gland. Br J Surg. 2005;67(6):446-8. http://dx.doi.org/10.1002/bjs.1800670621. PMid:7388347.
80. Sakurai K, Amano S, Enomoto K, Matsuo S, Kitajima A. Primary hyperparathyroidism with thyroid hemiagenesis. Asian J Surg. 2007;30(2):151-3. http://dx.doi. org/10.1016/S1015-9584(09)60151-2. PMid:17475589.
81. Tiwari PK, Baxi M, Baxi J, Koirala D. Right-sided hemiagenesis of the thyroid lobe and isthmus: a case report. Indian J Radiol Imaging. 2008;18(4):313-5. http://dx.doi.org/10.4103/0971-3026.40958. PMid:19774189.
82. Lee YS, Yun JS, Jeong JJ, Nam KH, Chung WY, Park CS. Thyroid hemiagenesis associated with thyroid adenomatous hyperplasia and papillary thyroid carcinoma. Thyroid. 2008;18(3):381-2. http://dx.doi.org/10.1089/thy.2007.0281. PMid:18341383.
83. Philip R, Ashokan A, Philip R, Keshavan C. Graves’ disease with thyroid hemiagenesis: a rare abnormality with rarer presentation. Indian J Nucl Med. 2014;29(2):124-5. http://dx.doi.org/10.4103/0972-3919.130321. PMid:24761072.
84. Huang SM, Chen HD, Wen TY, Kun MS. Right thyroid hemiagenesis associated with papillary thyroid cancer and an ectopic prelaryngeal thyroid: a case report. J Formos Med Assoc Taiwan Yi Zhi. 2002;101(5):368-71. PMid:12101857.
85. Ozgen AG, Saygili F, Kabalak T. Thyroid hemiagenesis associated with Graves’ disease and Graves’ ophthalmopathy: case report. Thyroid. 2004;14(1):75-7. http://dx.doi.org/10.1089/105072504322783885. PMid:15009918.
86. Nayak DR, Bhandarkar AM, Joy J, Pai K. Neonatal lingual choristoma with thyroid hemiagenesis. BMJ Case Rep. 2015;2015(may06 1):bcr2015209744. http://dx.doi. org/10.1136/bcr-2015-209744. PMid:25948857.
87. Shechner C, Kraiem Z, Zuckerman E, Dickstein G. Toxic Graves’ disease with thyroid hemiagenesis: diagnosis using thyroid-stimulating immunoglobulin measurements. Thyroid. 1992;2(2):133-5. http://dx.doi.org/10.1089/ thy.1992.2.133. PMid:1356055.
88. Meringolo D, Campi I, Costante G. Severe Graves’ Orbitopathy occurring in a patient with thyroid hemiagenesis. Endocrine. 2018;62(2):490-1. http://dx.doi. org/10.1007/s12020-018-1662-9. PMid:29987702.
89. Liu X, Zhang J, Meng Z, Yu H, Gao Z, Li H, Liu N. A case report of 131I therapy for Graves’ disease patient with hemiagenesis. Medicine. 2019;98(8):e14606. http://dx.doi.org/10.1097/MD.0000000000014606. PMid:30813185.
90. Aslaner A, Aydin M, Ozdere A. Multinodular goitre with thyroid hemiagenesis: a case report and review of the literature. Acta Chir Belg. 2005;105(5):528-30. http://dx.doi.org/10.1080/00015458.2005.11679774. PMid:16315840.
91. Mydlarz WK, Zhang K, Micchelli ST, Kim M, Tufano RP. Ipsilateral double parathyroid adenoma and thyroid hemiagenesis. ORL J Otorhinolaryngol Relat Spec. 2010;72(5):272-4. http://dx.doi.org/10.1159/000312707. PMid:20733341.
92. Ng TT, Soon DSC, Mahanta V. A tale of two anomalies: fourth branchial cleft cyst with thyroid hemiagenesis. ANZ J Surg. 2018;88(9):E677-8. http://dx.doi. org/10.1111/ans.13637. PMid:27193804.
93. Hervás Benito I, Vera Espallardo F, Rivas Sánchez A, López Aznar D, Saura Quiles A, Muñoz M, Bello Arques P, Mateo Navarro A. Association of thyroid hemiagenesis and Graves disease. Rev Esp Med Nucl. 2001;20(2):116-9. PMid:11333821.
94. Papi G, Salvatori R, Ferretti G, Roti E. Thyroid hemiagenesis and autoimmune polyglandular syndrome type III. J Endocrinol Invest. 2003;26(11):1160-1. http://dx.doi.org/10.1007/BF03345267. PMid:15008258.
95. Stagi S, Bindi G, Neri AS, Lapi E, Losi S, Jenuso R, Salti R, Chiarelli F. Thyroid function and morphology in patients affected by Williams syndrome. Clin Endocrinol. 2005;63(4):456-60. http://dx.doi.org/10.1111/j.1365-2265.2005.02365.x. PMid:16181239.
96. Nebesio TD, Eugster EA. Unusual thyroid constellation in Down syndrome: congenital hypothyroidism, Graves’ disease, and hemiagenesis in the same child. J Pediatr Endocrinol Metab. 2009;22(3):263-8. http://dx.doi.org/10.1515/ JPEM.2009.22.3.263. PMid:19492583.
97. Borges MF, Sedassari NA, Sedassari AA, Souza LRMF, Ferreira BP, Lara BHJ, Palhares HMC. Timing of thyroid ultrasonography in the etiological investigation of congenital hypothyroidism. Arch Endocrinol Metab. 2017;61(5):432-7. http://dx.doi.org/10.1590/2359-3997000000239. PMid:28225993.
98. Lee IT, Sheu WHH, Lin SY. Familial form of thyroid dysgenesis: report of thyroid hemiagenesis with accompanying Graves’ disease in a woman whose daughter has thyroid agenesis. Horm Res. 2003;59(1):47-9. PMid:12566736.
99. Eroglu M, Ozkul F, Barutcu EC, Arik K, Adam G, Bilen Y, Ukinc K, Asik M. Severe hyperparathyroidism in patient with right thyroid hemiagenesis. J Pak Med Assoc. 2015;65(9):1022-3. PMid:26338756.
100. Karatağ GY, Albayrak ZK, Önay HK, Karatağ O, Peker Ö. Coexistence of thyroid hemiagenesis, nodular goitre and papillary carcinoma. Kulak Burun Bogaz Ihtis Derg. 2013;23(2):115-8. http://dx.doi.org/10.5606/kbbihtisas.2013.60590. PMid:23611326.
101. Léger J, Marinovic D, Garel C, Bonaïti-Pellié C, Polak M, Czernichow P. Thyroid developmental anomalies in first degree relatives of children with congenital hypothyroidism. J Clin Endocrinol Metab. 2002;87(2):575-80. http://dx.doi. org/10.1210/jcem.87.2.8268. PMid:11836288.
102. Abbassi V, Auth R. Hemiagenesis of the thyroid: clinical and radiological presentation in the pediatric patient. J Nucl Med Off Publ Soc Nucl Med. 1983;24(10):972-3. PMid:6619967.
103. Woods RH, Loury M. Thyroid hemiagenesis in a patient with a parathyroid adenoma. Otolaryngol Head Neck Surg. 1992;107(3):469-71. http://dx.doi. org/10.1177/019459989210700324. PMid:1408238.
104. Khatri VP, Espinosa MH, Harada WA. Papillary adenocarcinoma in thyroid hemiagenesis. Head Neck. 1992;14(4):312-5. http://dx.doi.org/10.1002/ hed.2880140411. PMid:1517082.
105. Hsu CY, Wang SJ. Thyroid hemiagenesis accompanying an ectopic sublingual thyroid. Clin Nucl Med. 1994;19(6):546. http://dx.doi.org/10.1097/00003072- 199406000-00019. PMid:8062479.
106. Friedman A, Bauman A. Hemiagenesis of the thyroid. South Med J. 1979;72(8):927-9, 932. http://dx.doi.org/10.1097/00007611-197908000-00008. PMid:472814.
107. Konno N, Kanaya A. Thyroid hemiagenesis associated with the right aortic arch. J Endocrinol Invest. 1988;11(9):685-7. http://dx.doi.org/10.1007/BF03350216. PMid:3221043. De Paula et al. Arch Head Neck Surg. 2023;52:e20230007. 24/27 Thyroid hemiagenesis: description of two clinical cases, anatomical review, and critical synthesis of th
108. Zangeneh F, Miller JL, Intenzo CM. Thyroid gland hemiagenesis with Graves’ disease. Thyroid. 2001;11(6):603. http://dx.doi.org/10.1089/105072501750302930. PMid:11442010.
109. Kirmızibekmez H, Güven A, Yildiz M, Cebeci AN, Dursun F. Developmental defects of the thyroid gland: relationship with advanced maternal age. J Clin Res Pediatr Endocrinol. 2012;4(2):72-5. http://dx.doi.org/10.4274/Jcrpe.560. PMid:22672863.
110. Jain A, Pathak S. Rare developmental abnormalities of thyroid gland, especially multiple ectopia: a review and our experience. Indian J Nucl Med. 2010;25(4):143-6. http://dx.doi.org/10.4103/0972-3919.78248. PMid:21713222.
111. Golinger RC. Thyroid hemiagenesis with goiter. JAMA. 1973;224(1):128. http://dx.doi.org/10.1001/jama.1973.03220140096022. PMid:4739479.
112. Cerqueira TLO, Ramos YR, Strappa GB, Jesus MS, Santos JG, Sousa C, Carvalho G, Fernandes V, Boa-Sorte N, Amorim T, Silva TM, Ladeia AMT, Acosta AX, Ramos HE. Mutation screening in the genes PAX-8, NKX2-5, TSH-R, HES-1 in cohort of 63 Brazilian children with thyroid dysgenesis. Arch Endocrinol Metab. 2018;62(4):466-71. http://dx.doi.org/10.20945/2359-3997000000065. PMid:30304112.
113. Kebapçilar L, Akinci B, Demir T, Bayraktar F, Yeşil S. Hypercalcemia due to Graves’ disease in a patient with thyroid hemiagenesis. Kulak Burun Bogaz Ihtis Derg KBB J Ear Nose Throat. 2009;19(3):159-62. PMid:19857196.
114. Rosenberg T, Gilboa Y. Familial thyroid ectopy and hemiagenesis. Arch Dis Child. 1980;55(8):639-41. http://dx.doi.org/10.1136/adc.55.8.639. PMid:7436522.
115. Hsu CY, Kao CH, Lin WY, Liao SQ, Wan SJ. The application of Tc-99m thyroid scintigraphy in congenital hypothyroidism. Gaoxiong Yi Xue Ke Xue Za Zhi. 1993;9(5):290-5. PMid:8393495.
116. Duarte GC, Tomimori EK, de Camargo RYA, Catarino RM, Ferreira JE, Knobel M, Medeiros-Neto G. Excessive iodine intake and ultrasonographic thyroid abnormalities in schoolchildren. J Pediatr Endocrinol Metab. 2009;22(4):327-34. http://dx.doi.org/10.1515/JPEM.2009.22.4.327. PMid:19554806.
117. Shibutani Y, Inoue D, Koshiyama H, Mori T. Thyroid hemiagenesis with subacute thyroiditis. Thyroid. 1995;5(2):133-5. http://dx.doi.org/10.1089/thy.1995.5.133. PMid:7647573.
118. Saydam L, Uğur MB, Bozkurt MK, Ozçelik T. Thyroid hemiagenesis: a case report. Kulak Burun Bogaz Ihtis Derg KBB J Ear Nose Throat. 2003;10(2):69-71. PMid:12717055.
119. Ruchała M, Szczepanek E, Skiba A, Czepczyński R, Sowiński J. Graves’ hyperthyroidism following primary hypothyroidism due to Hashimoto’s thyroiditis in a case of thyroid hemiagenesis: case report. Neuroendocrinol Lett. 2008;29(1):55-8. PMid:18283259.
120. Folsom DL, Gauderer MW, Dahms WT. Nodular hyperplasia, black thyroid, and chronic minocycline ingestion in a teenager. Arch Surg. 1992;127(12):1476-7. http://dx.doi.org/10.1001/archsurg.1992.01420120110018. PMid:1365695.
121. Véliz J, Pineda G. Thyroid hemiagenesis associated with Basedow-Graves disease. Report of a case. Rev Med Chil. 2000;128(8):896-8. PMid:11129551.
122. Duh QY, Ciulla TA, Clark OH. Primary parathyroid hyperplasia associated with thyroid hemiagenesis and agenesis of the isthmus. Surgery. 1994;115(2):257-63. PMid:8310416.
123. Letonturier P, Hazard J, Tourneur R, Perlemuter L, Angel R. Thyroid hemiagenesis (single thyroid lobe). 8 cases (author’s transl). Nouv Presse Med. 1979;8(15):1227-9. PMid:440944.
124. Golden ET, Alazraki A, Loewen J, Braithwaite K. Complete sternal cleft associated with right clavicular, manubrial, and thyroid hypoplasia, pectus deformity, and spinal anomalies. Clin Imaging. 2016;40(1):174-6. http://dx.doi.org/10.1016/j. clinimag.2015.08.003. PMid:26456118.
125. Ramos HE, Nesi-França S, Boldarine VT, Pereira RM, Chiamolera MI, Camacho CP, Graf H, de Lacerda L, Carvalho GA, Maciel RM. Clinical and molecular analysis of thyroid hypoplasia: a population-based approach in southern Brazil. Thyroid Off J Am Thyroid Assoc. 2009;19(1):61-8. http://dx.doi.org/10.1089/thy.2008.0116. PMid:18976153.
126. Bando Y, Nagai Y, Ushiogi Y, Toya D, Tanaka N, Fujisawa M. Development of Graves’ hyperthyroidism from primary hypothyroidism in a case of thyroid hemiagenesis. Thyroid. 1999;9(2):183-7. http://dx.doi.org/10.1089/thy.1999.9.183. PMid:10090320.
127. Sheridan MF, Bruns AD, Burgess LP. Hemiagenesis of the thyroid gland. Otolaryngol Head Neck Surg. 1995;112(4):621-3.
128. Berni Canani F, Dall’Olio D, Chiarini V, Casadei GP, Papini E. Papillary carcinoma of a thyroglossal duct cyst in a patient with thyroid hemiagenesis: effectiveness of conservative surgical treatment. Endocr Pract Off J Am Coll Endocrinol Am Assoc Clin Endocrinol. 2008;14(4):465-9. http://dx.doi.org/10.4158/EP.14.4.465. PMid:18558601.
129. Tonacchera M, Banco ME, Montanelli L, Di Cosmo C, Agretti P, De Marco G, Ferrarini E, Ordookhani A, Perri A, Chiovato L, Santini F, Vitti P, Pinchera A. 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. 2007;67(1):34-40. http://dx.doi.org/10.1111/j.1365- 2265.2007.02831.x. PMid:17437516.
130. Serdengeçti M, Ayan A, Sari O. Thyroid hemiagenesis and Graves’ disease in a child. Clin Nucl Med. 2009;34(12):884-5. http://dx.doi.org/10.1097/ RLU.0b013e3181bed120. PMid:20139822.
131. Alam MK. Thyroid hemiagenesis: case report and review of the literature. Ann Saudi Med. 1997;17(6):632-3. http://dx.doi.org/10.5144/0256-4947.1997.632. PMid:17338012.
132. Cammareri V, Vignati G, Nocera G, Beck-Peccoz P, Persani L. Thyroid hemiagenesis and elevated thyrotropin levels in a child with Williams syndrome. Am J Med Genet. 1999;85(5):491-4. http://dx.doi.org/10.1002/(SICI)1096- 8628(19990827)85:5<491::AID-AJMG11>3.0.CO;2-Z. PMid:10405448.
133. Woo HY, Kim HS. Clinicopathological characteristics of cervical chondrocutaneous branchial remnant: a single-institutional experience. Int J Clin Exp Pathol. 2017;10(9):9866-77. PMid:31966875.
134. Gursoy A, Sahin M, Ertugrul DT, Berberoglu Z, Sezgin A, Tutuncu NB, Demirag NG. Familial dilated cardiomyopathy hypergonadotrophic hypogonadism associated with thyroid hemiagenesis. Am J Med Genet A. 2006;140A(8):895-6. http://dx.doi.org/10.1002/ajmg.a.31161. PMid:16523513.
135. Piera J, Garriga J, Calabuig R, Bargallo D. Thyroidal hemiagenesis. Am J Surg. 1986;151(3):419-21. http://dx.doi.org/10.1016/0002-9610(86)90482-4. PMid:3953964.
136. Supakul N, Delaney LR, Siddiqui AR, Jennings SG, Eugster EA, Karmazyn B. Ultrasound for primary imaging of congenital hypothyroidism. AJR Am J Roentgenol. 2012;199(3):W360-6. http://dx.doi.org/10.2214/ AJR.11.7905. PMid:22915427.
137. Hopwood NJ, Carroll RG, Kenny FM, Foley TP Jr. Functioning thyroid masses in childhood and adolescence. Clinical, surgical, and pathologic correlations. J Pediatr. 1976;89(5):710-8. http://dx.doi.org/10.1016/S0022-3476(76)80788-3. PMid:978316.
138. McLean R, Howard N, Murray IP. Thyroid dysgenesis in monozygotic twins: variants identified by scintigraphy. Eur J Nucl Med. 1985;10(7-8):346-8. http://dx.doi.org/10.1007/BF00251309. PMid:4040018.
139. Braga-Basaria M, Basaria S, Mesa C Jr, Stolf AR, Graf H. Sonographically guided percutaneous ethanol treatment of a symptomatic complex nodule with a large cystic component in a patient with thyroid hemiagenesis. J Clin Ultrasound. 2002;30(7):445-9. http://dx.doi.org/10.1002/jcu.10088. PMid:12210465.
140. De Remigis P, D’Angelo M, Bonaduce S, Di Giandomenico V, Sensi S. Comparison of ultrasonic scanning and scintiscanning in the evaluation of thyroid hemiagenesis. J Clin Ultrasound. 1985;13(8):561-3. http://dx.doi.org/10.1002/1097- 0096(199010)13:8<561::AID-JCU1870130808>3.0.CO;2-X. PMid:3934219.
141. Hashemipour M, Ghasemi M, Hovsepian S, Heiydari K, Sajadi A, Hadian R, Mansourian M, Mirshahzadeh N, Kelishadi R, Dalvi M. Etiology of congenital hypothyroidism in Isfahan: does it different? Adv Biomed Res. 2014;3(1):21. http://dx.doi.org/10.4103/2277-9175.124658. PMid:24600601.
142. Passeri E, Frigerio M, De Filippis T, Valaperta R, Capelli P, Costa E, Fugazzola L, Marelli F, Porazzi P, Arcidiacono C, Carminati M, Ambrosi B, Persani L, Corbetta S. Increased risk for non-autoimmune hypothyroidism in young patients with congenital heart defects. J Clin Endocrinol Metab. 2011;96(7):E1115-9. http://dx.doi.org/10.1210/jc.2011-0057. PMid:21525159.
143. Beltrão CB, Juliano AG, Chammas MC, Watanabe T, Sapienza MT, Marui S. Etiology of congenital hypothyroidism using thyroglobulin and ultrasound combination. Endocr J. 2010;57(7):587-93. http://dx.doi.org/10.1507/endocrj.K10E-009. PMid:20467163.
144. Devos H, Rodd C, Gagné N, Laframboise R, van Vliet G. A search for the possible molecular mechanisms of thyroid dysgenesis: sex ratios and associated malformations. J Clin Endocrinol Metab. 1999;84(7):2502-6. http://dx.doi. org/10.1210/jcem.84.7.5831. PMid:10404827.
145. Retnam VJ, Nayak UN, Vernekar KS, Bhandarkar SD. Hemi-agenesis of thyroid. J Postgrad Med. 1981;27(1):48-50. PMid:7230077.
146. Marwaha RK, Khanna CM, Gupta RK, Sharma R. Hemiagenesis associated with chronic lymphocytic thyroiditis. J Assoc Physicians India. 1990;38(7):507-8. PMid:2292562.
147. Leckie RG, Delaplain CB, Watabe JT, Darrow M. Thyroid hemiagenesis by I-123 thyroid scan with high-resolution real-time ultrasound confirmation. Clin Nucl Med. 1993;18(2):161-3. http://dx.doi.org/10.1097/00003072-199302000-00021. PMid:8432068.
148. Tonacchera M, Banco M, Lapi P, Di Cosmo C, Perri A, Montanelli L, Moschini L, Gatti G, Gandini D, Massei A, Agretti P, De Marco G, Vitti P, Chiovato L, Pinchera A. Genetic analysis of TTF-2 gene in children with congenital hypothyroidism and cleft palate, congenital hypothyroidism, or isolated cleft palate. Thyroid. 2004;14(8):584-8. http://dx.doi.org/10.1089/1050725041692864. PMid:15320969.
149. Perry RJ, Maroo S, Maclennan AC, Jones JH, Donaldson MDC. Combined ultrasound and isotope scanning is more informative in the diagnosis of congenital hypothyroidism than single scanning. Arch Dis Child. 2006;91(12):972-6. http://dx.doi.org/10.1136/adc.2006.096776. PMid:16864597.
150. Vaswani K, Vitellas KM, Bennett WF. Case 1. Thyroid hemiagenesis with adenoma. AJR Am J Roentgenol. 2000;175(3):895-8. http://dx.doi.org/10.2214/ ajr.175.3.1750895. PMid:10954499.
151. Srichomkwun P, Admoni O, Refetoff S, de Vries L. a novel mutation (S54C) of the PAX8 gene in a family with congenital hypothyroidism and a high proportion of affected individuals. Horm Res Paediatr. 2016;86(2):137-42. http://dx.doi. org/10.1159/000445891. PMid:27207603.
152. Lazzarin M, Benati F, Menini C. Agenesis of the thyroid lobe associated with Hashimoto’s thyroiditis. Minerva Endocrinol. 1997;22(3):75-7. PMid:9557474.
153. Vakili R, Mazlouman SJ. Dyshormonogenic hypothyroidism with normal neurological development, unexplained short stature and facial anomalies in three siblings. Clin Dysmorphol. 2003;12(1):21-7. http://dx.doi.org/10.1097/00019605- 200301000-00004. PMid:12514361.
154. Nair N. Thyroidal hemiagenesis: a report of two cases. Int J Nucl Med Biol. 1979;6(3):175-6. http://dx.doi.org/10.1016/0047-0740(79)90034-2. PMid:521223.
Submitted date:
04/13/2023
Accepted date:
07/09/2023
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