Resistance to thyrotropin: familial case report
https://doi.org/10.14341/ket2015436-39
Abstract
Two female dizygotic twins with subclinical primary hypothyroidism due to homozygous p.R450H mutation in TSHR gene are presented. A 5-year follow-up in both cases showed no progression of thyroid dysfunction. Indications for levothyroxine replacement in subclinical hypothyroidism are discussed.
About the Authors
Mariya Aleksandrovna Osipovskaya
Ural State Medical University
Russian Federation
MD
Russian Federation
MD
Alexey Vasil'evich Kiyaev
Ural State Medical University
Russian Federation
MD, PhD, Assistance professor
Russian Federation
MD, PhD, Assistance professor
Nina Alekseevna Makretskaya
Endocrinology Research Centre
Russian Federation
MD, PhD-student
Russian Federation
MD, PhD-student
Evgeny Viktorovich Vasiliev
Endocrinology Research Centre
Russian Federation
MD, PhD
Russian Federation
MD, PhD
Anatoly Nikolaevich Tiulpakov
Endocrinology Research Centre
Russian Federation
MD, PhD, Professor
Russian Federation
MD, PhD, Professor
References
1. Stanbury JB, Rocmans P, Buhler UK, Ochi Y. Congenital Hypothyroidism with Impaired Thyroid Response to Thyrotropin. N Engl J Med. 1968;279(21):1132-1136. doi: 10.1056/nejm196811212792103.
2. Calebiro D, Perzani L, Beck-Packos P. Clinical manifestations of mutations in RTSH: RTSH pathology. Thyroid international. 2005;3.
3. Nagayama Y, Kaufman KD, Seto P, Rapoport B. Molecular cloning, sequence and functional expression of the cDNA for the human thyrotropin receptor. Biochem Biophys Res Commun. 1989;165(3):1184-1190. doi: 10.1016/0006-291x(89)92727-7.
4. Vassart G, Parmentier M, Libert F, Dumont J. Molecular genetics of the thyrotropin receptor. Trends Endocrinol Metab. 1991;2(4):151-156. doi: 10.1016/1043-2760(91)90006-9.
5. Libert F, Lefort A, Gerard C, et al. Cloning, sequencing and expression of the human thyrotropin (TSH) receptor: Evidence for binding of autoantibodies. Biochem Biophys Res Commun. 1989;165(3):1250-1255. doi: 10.1016/0006-291x(89)92736-8.
6. Stein SA, Oates EL, Hall CR, et al. Identification of a point mutation in the thyrotropin receptor of the hyt/hyt hypothyroid mouse. Mol Endocrinol. 1994;8(2):129-138. doi: 10.1210/me.8.2.129.
7. Sunthornthepvarakul T, Gottschalk ME, Hayashi Y, Refetoff S. Resistance to Thyrotropin Caused by Mutations in the Thyrotropin-Receptor Gene. N Engl J Med. 1995;332(3):155-160. doi: 10.1056/nejm199501193320305.
8. de Roux N, Misrahi M, Brauner R, et al. Four families with loss of function mutations of the thyrotropin receptor. J Clin Endocr Metab. 1996;81(12):4229-4235. doi: 10.1210/jcem.81.12.8954020.
9. Tonacchera M, Agretti P, Pinchera A, et al. Congenital Hypothyroidism with Impaired Thyroid Response to Thyrotropin (TSH) and Absent Circulating Thyroglobulin: Evidence for a New Inactivating Mutation of the TSH Receptor Gene1. J Clin Endocr Metab. 2000;85(3):1001-1008. doi: 10.1210/jcem.85.3.6460.
10. Hebrant A, van Staveren WCG, Maenhaut C, et al. Genetic hyperthyroidism: hyperthyroidism due to activating TSHR mutations. Eur J Endocrinol. 2010;164(1):1-9. doi: 10.1530/eje-10-0775.
11. Lüblinghoff J, Nebel IT, Huth S, et al. The Leipzig Thyrotropin Receptor Mutation Database: Update 2012. European Thyroid Journal. 2012;1(3):209-210. doi: 10.1159/000342918.
12. Beck-Peccoz P, Persani L, Calebiro D, et al. Syndromes of hormone resistance in the hypothalamic–pituitary–thyroid axis. Best Practice & Research Clinical Endocrinology & Metabolism. 2006;20(4):529-546. doi: 10.1016/j.beem.2006.11.001.
13. Alberti L, Proverbio MC, Costagliola S, et al. Germline Mutations of TSH Receptor Gene as Cause of Nonautoimmune Subclinical Hypothyroidism. J Clin Endocr Metab. 2002;87(6):2549-2555. doi: 10.1210/jcem.87.6.8536.
14. Abramowicz MJ, Duprez L, Parma J, et al. Familial congenital hypothyroidism due to inactivating mutation of the thyrotropin receptor causing profound hypoplasia of the thyroid gland. J Clin Invest. 1997;99(12):3018-3024. doi: 10.1172/jci119497.
15. Гарднер Д., Шобек Д. Базисная и клиническая эндокринология. / Пер. с англ. под ред. Мельниченко Г.А. и Фадеева В.В. – М.; 2011. – C. 356-357. [Gardner D, Shoback D. Greenspan's Basic and Clinical Endocrinology, Ninth Edition. McGraw-Hill Education; 2011.]
16. Tenenbaum-Rakover Y, Grasberger H, Mamanasiri S, et al. Loss-of-Function Mutations in the Thyrotropin Receptor Gene as a Major Determinant of Hyperthyrotropinemia in a Consanguineous Community. J Clin Endocr Metab. 2009;94(5):1706-1712. doi: 10.1210/jc.2008-1938.
17. Tsunekawa K, Yanagawa Y, Aoki T, et al. Frequency and Clinical Implication of the R450H Mutation in the Thyrotropin Receptor Gene in the Japanese Population Detected by Smart Amplification Process 2. BioMed Research International. 2014;2014:1-7. doi: 10.1155/2014/964635.
18. Lazarus J, Brown RS, Daumerie C, et al. 2014 European Thyroid Association Guidelines for the Management of Subclinical Hypothyroidism in Pregnancy and in Children. European Thyroid Journal. 2014;3(2):76-94. doi: 10.1159/000362597.
Review
For citations:
Osipovskaya M.A., Kiyaev A.V., Makretskaya N.A., Vasiliev E.V., Tiulpakov A.N. Resistance to thyrotropin: familial case report. Clinical and experimental thyroidology. 2015;11(4):36-39. (In Russ.) https://doi.org/10.14341/ket2015436-39
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