We report the observation of an unusual case of Graves’ disease associated with thyroid hemiagenesis. A 41-year-old woman who presented with symptoms and clinical signs of hyperthyroidism was discovered to have thyroid hemiagenesia of the left lobe. Thyroid ultrasound scan showed enlargement of the right lobe with a single nodule, and absence of the left lobe; isotope scan showed homogeneous uptake in the single lobe and nodule. Ophthalmopathy, which was absent at presentation, developed after two years; after a further 2 years the patient developed decompensated hypothyroidism requiring thyroxine replacement. This is the first case of Graves’ disease in thyroid hemiagenesis evolved to hypothyroidism, and a rare case of thyroid ophthalmopathy accompanying this condition.

1.
Brown R, Demmer LA: Editorial: The aetiology of thyroid dysgenesis. Still an enigma after all these years. J Clin Endocrinol Metab 2002;87:4069–4071.
2.
Perry R, Heinrichs C, Bourdoux P, Khoury K, Szots F, Dussault JH, Vassart G, Van Vliet G: Discordance of monozygotic twins for thyroid dysgenesis: Implications for scanning and for molecular pathophysiology. J Clin Endocrinol Metab 2002;87:4069–4071.
3.
Knobel M, Meideiros-Neto G: An outline of inherited disorders in the thyroid hormone generating system. Thyroid 2003;13:771–801.
4.
Fagman H, Grande M, Gritli-Linde A, Nilsson N: Genetic deletion of sonic hedgehog causes hemiagenesis and ectopic development of the thyroid in mouse. Am J Pathol 2004;164:1865–1872.
5.
Weetman AP: Graves’ disease. N Engl J Med 2000;26:1236–1248.
6.
Tomai H, Kasagi K, Takaichi Y, et al: Development of spontaneous hypothyroidism in patients with Graves’ disease treated with antithyroidal drugs: Clinical, immunological and histological findings in 26 patients. J Clin Endocrinol Metab 1989;69:49–53.
7.
Baldini M, Pappalettera M, Lecchi L, Orsatti A, Meroni L, Tozzi R, Scalamogna M, Cantalamessa L: Human lymphocyte antigens in Graves’ disease: Correlation with persistent course of disease. Am J Med Sci 1995;309:43–48.
8.
Charkes ND: Graves’ disease with functioning nodules (Marine-Lenhart syndrome). J Nucl Med 1972;13:885–892.
9.
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;88:1534–1536.
10.
Hamburger JI, Hamburger SW: Thyroid hemiagenesis. Arch Surg 1970;100:319–320.
11.
Shabana W, Delange F, Freson M, Osteaux M, De Schepper J: Prevalence of thyroid hemiagenesis: Ultrasound screening in normal children. Eur J Pediatr 2000;159:456–458.
12.
Burman KD, Adler RA, Wartofsky L: Hemiagenesis of the thyroid gland. Am J Med 1975;58:143–146.
13.
Mortimer PS, Tomlinson IW, Rosenthal FD: Hemiaplasia of the thyroid with thyrotoxicosis. J Clin Endocrinol Metab 1981;52:152–155.
14.
Matsumura LK, Russo EM, Dib SA, Macel RM, Chacra AR: Hemiagenesis of the thyroid gland and T3 hyperthyroidism. Postgrad Med J 1981;58:244–246.
15.
Levy EG: Graves’ disease in a patient with thyroid hemiagenesis. Thyroidology 1989;1:49–50.
16.
Sasaki H, Futata T, Ninomiya H, Higashi Y, Okumura M: CT and MR imagings of single thyroid lobe (thyroid hemiagenesis) with Graves’ disease. Postgrad Med J 1991;67:701–707.
17.
Shechner C, Kraien Z, Zuckerman E, Dickstein G: Toxic Graves’ disease with thyroid hemiagenesis: Diagnosis using thyroid-stimulating immunoglobulin measurements. Thyroid 1992;2:133–135.
18.
Ozaki O, Ito K, Mimura T, Sugino K, Kitamura K, Ywabuchi H, Kawano M: Hemiaplasia of the thyroid associated with Graves’ disease: Report of three cases and review of literature. Surg Todays 1994;24:164–169.
19.
McHenry CR, Walfish PG, Rosen IB, Lawrence AM, Paloyan E: Congenital thyroid hemiagenesis. Am Surg 1995;61:634–638.
20.
Rashid HI, Yassin J, Owen WJ: A case of Graves’ disease in association with hemiagenesis of the thyroid gland. Int J Clin Pract 1998;52:515–516.
21.
Mikosch P, Gallowitsch HJ, Kresnik E, Lind P: Thyroid gland hemiagenesis with Graves’ disease. Nuklearmedizin 1999;38:35–37.
22.
Bando Y, Magai Y, Ushigogi Y, Toya D, Tanaka N, Fujisawa M: Development of Graves’ hyperthyroidism from primary hypothyroidism in a case of thyroid hemiagenesis. Thyroid 1999;9:183–187.
23.
Veliz J, Pineda G: Thyroid hemiagenesis associated with Basedow-Graves disease: Report of a case. Rev Med Chil 2000;128:896–898.
24.
Vaswani K, Vitellas KM, Bennet WF: Case 1: thyroid hemiagenesis with adenoma. AJR Am J Rontgenol 2000;175:895–898.
25.
Sari O, Ciftci I, Toru M, Erbas B: Thyroid hemiagenesis. Clin Nucl Med 2000;25:766–768.
26.
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;26:506–508.
27.
Zangeneh F, Miller JL, Intenzo CM: Thyroid gland hemiagenesis with Graves’ disease. Thyroid 2001;11:603.
28.
Hervas Benito I, Vera Espallardo F, Rivas Sanchez A, Lopez Aznar D, Saura Quiles A, Munoz M, Bello Arques P, Mateo Navarro A: Association of thyroid hemiagenesis and Graves disease. Rev Esp Med Nucl 2001;20:116–119.
29.
Lee IT, Shen WM, 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;59:47–49.
30.
Ozgen AG, Saygili F, Kabalak T: Thyroid hemiagenesis associated with Graves’ disease and Graves’ ophthalmopathy: Case report. Thyroid 2004;14:75–77.
31.
Léger J, Marinovic D, Garel C, Bonaiti-Pellié C, Polak M, Czernichow P: Thyroid developmental anomalies in first degree relatives of children with congenital hypothyroidism. J Clin Endocrinol Metab 2002;87:575–580.
32.
Rajmil HO, Rodriguez-Espinosa J, Soldevila J, Ordonez-Llanos J: Thyroid hemiagenesis in two sisters. J Endocrinol Invest 1984;7:393–394.
33.
McLean R, Howard N, Murray IP: Thyroid dysgenesis in monozygotic twins: Variants identified by scintigraphy. Eur J Nucl Med 1985;10:346–348.
34.
Fawcett HD, Winsett MZ, Yudt WM, Sayle BA: Hyperthyroidism and single lobe. Clin Nucl Med 1987;12:57–59.
35.
Biebermann H, Schöneberg T, Krude H, Schultz G, Wudermann T, Grüters A: Mutations of the human thyrotropin receptor gene causing thyroid hypoplasia and persistent congenital hypothyroidism. J Clin Endocrinol Metab 1997;82:3471–3480.
36.
Lapi P, Macchia PE, Chiovato L, Biffali E, Moschini L, Larizza D, Baserga M, Pinchera A, Fenzi G, Di Lauro R: Mutations in the gene encoding Thyroid Transcription Factor-1 (TTF-1) are not a frequent cause of congenital hypothyroidism (CH) with thyroid dysgenesis. Thyroid 1997;7:383–387.
37.
Fabbro D, Pelizari L, Teli G, Damante G: Pax-8 protein levels regulate thyroglobulin gene expressions. J Mol Endocrinol 1998;12:1100–1105.
38.
Devriendt K, Vanhole C, Matthis G, De Zegher F: Deletion of Thyroid Transcription Factor-1 gene in an infant with neonatal thyroid dysfunction and respiratory failure. N Engl J Med 1998;338:1317–1318.
39.
Clifton-Bligh RJ, Wentworth JM, Heinz P, Crisp MS, John R, Lazarus JH, Ludgate M, Chatterjee VK: Mutation of the gene encoding human TTF-2 associated with thyroid agenesis, cleft palate and choanal atresia. Nat Genet 1998;19:399–401.
40.
Macchia PE, Lapi P, Krude H, Pirro MT, Missero C, Chiovato L, Souabni A, Baserga N, Tassi V, Pinchera A, Fenzi G, Gruters A, Busslinger M, Di Lauro R: Pax 8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesis. Nat Genet 1998;19:83–86.
41.
Vilain C, Rjdlevski C, Duprez L, Heinrichs C, Abramowicz M, Malvaux P, Renneboog B, Parma J, Costagliola S, Vassart G: Autosomal dominant transmission of congenital thyroid hypoplasia due to loss of function mutation of Pax 8. J Clin Endocrinol Metab 2001;86:234–238.
42.
Di Lauro R: Thyroid dysgenesis. Endo 2004, New Orleans, abstr L3-1.
Copyright / Drug Dosage / Disclaimer
Copyright: All rights reserved. No part of this publication may be translated into other languages, reproduced or utilized in any form or by any means, electronic or mechanical, including photocopying, recording, microcopying, or by any information storage and retrieval system, without permission in writing from the publisher.
Drug Dosage: The authors and the publisher have exerted every effort to ensure that drug selection and dosage set forth in this text are in accord with current recommendations and practice at the time of publication. However, in view of ongoing research, changes in government regulations, and the constant flow of information relating to drug therapy and drug reactions, the reader is urged to check the package insert for each drug for any changes in indications and dosage and for added warnings and precautions. This is particularly important when the recommended agent is a new and/or infrequently employed drug.
Disclaimer: The statements, opinions and data contained in this publication are solely those of the individual authors and contributors and not of the publishers and the editor(s). The appearance of advertisements or/and product references in the publication is not a warranty, endorsement, or approval of the products or services advertised or of their effectiveness, quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements.
You do not currently have access to this content.