Late manifestation of subclinical hyperthyroidism after goitrogenesis in an index patient with a n670s tsh receptor germline mutation masquerading as tsh receptor antibody negative graves' disease

Hormone and Metabolic Research

Volumn 44, Issue 13, 2012, Pages 962-965

  Schaarschmidt, J ^a   Paschke, S ^a   Ozerden M ^b   Jaschke H ^a   Huth, S ^a   Eszlinger, M ^a   Meller, J ^b   Paschke, R ^a  

^a UNIVERSITY OF LEIPZIG   (Germany)

^b UNIVERSITY OF GÖTTINGEN   (Germany)

Author keywords

Graves' disease; hyperthyroidism; thyroid function; thyroid stimulating hormone; TSHR mutation

Indexed keywords

IODINE 131; TECHNETIUM 99M; THYROID PEROXIDASE; THYROTROPIN; THYROTROPIN RECEPTOR; THYROTROPIN RECEPTOR ANTIBODY; THYROXINE;

AGED; ARTICLE; CASE REPORT; DISEASE COURSE; FEMALE; GENE; GENE MUTATION; GOITER; GRAVES DISEASE; HUMAN; HYPERTHYROIDISM; MEDICAL HISTORY; PRIORITY JOURNAL; THYROTROPIN RECEPTOR GENE; ULTRASOUND;

AGED; AUTOANTIBODIES; FEMALE; GERM-LINE MUTATION; GOITER; GRAVES DISEASE; HUMANS; HYPERTHYROIDISM; RECEPTORS, THYROTROPIN;

EID: 84871219662     PISSN: 00185043     EISSN: 14394286     Source Type: Journal    
DOI: 10.1055/s-0032-1316353     Document Type: Article

References (20)

1. Miehle K., Paschke R. Therapy of hyperthyroidism. Exp Clin Endocrinol Diabetes: 2003; 111 305 318
2. Vos X. G., Smit N., Endert E., Tijssen JG P., Wiersinga W. M. Frequency and characteristics of TBII-seronegative patients in a population with untreated Graves hyperthyroidism: a prospective study. Clin Endocrinol: 2008; 69 311 317
3. Kraiem Z., Glaser B., Yigla M., Pauker J., Sadeh O., Sheinfeld M. Toxic multinodular goiter: a variant of autoimmune hyperthyroidism. J Clin Endocrinol Metab: 1987; 65 659 664
4. Meller J., Jauho A., Hüfner M., Gratz S., Becker W. Disseminated thyroid autonomy or Graves' disease: reevaluation by a second generation TSH receptor antibody assay. Thyroid: 2000; 10 1073 1079
5. Wallaschofski H., Orda C., Georgi P., Miehle K., Paschke R. Distinction between autoimmune and non-autoimmune hyperthyroidism by determination of TSH-receptor antibodies in patients with the initial diagnosis of toxic multinodular goiter. Horm Metab Res: 2001; 33 504 507
6. Führer D., Lachmund P., Nebel I-T, Paschke R. The thyrotropin receptor mutation database: update 2003. Thyroid: 2003; 13 1123 1126
7. Gozu H. I., Mueller S., Bircan R., Krohn K., Ekinci G., Yavuzer D., Sargin H., Ones T., Gezen C., Orbay E., Cirakoglu B., Paschke R. A new silent germline mutation of the TSH receptor: coexpression in a hyperthyroid family member with a second activating somatic mutation. Thyroid: 2008; 18 499 508
8. Lueblinghoff J., Eszlinger M., Jaeschke H., Mueller S., Bircan R., Gozu H., Sancak S., Akalin S., Paschke R. Shared sporadic and somatic thyrotropin receptor mutations display more active in vitro activities than familial thyrotropin receptor mutations. Thyroid: 2011; 21 221 229
9. Trülzsch B., Krohn K., Wonerow P., Paschke R. DGGE is more sensitive for the detection of somatic point mutations than direct sequencing. Biotechniques: 1999; 27 266
10. Tonacchera M., Van Sande J., Cetani F., Swillens S., Schvartz C., Winiszewski P., Portmann L., Dumont J. E., Vassart G., Parma J. Functional characteristics of three new germline mutations of the thyrotropin receptor gene causing autosomal dominant toxic thyroid hyperplasia. J Clin Endocrinol Metab: 1996; 81 547 554
11. Mueller S., Gozu H. I., Bircan R., Jaeschke H., Eszlinger M., Lueblinghoff J., Krohn K., Paschke R. Cases of borderline in vitro constitutive thyrotropin receptor activity: how to decide whether a thyrotropin receptor mutation is constitutively active or not? Thyroid: 2009; 19 765 773
12. Berghout A., Wiersinga W. M., Smits N. J., Touber J. L. Interrelationships between age, thyroid volume, thyroid nodularity, and thyroid function in patients with sporadic nontoxic goiter. Am J Med: 1990; 89 602 608
13. Wallaschofski H., Müller D., Georgi P., Paschke R. Induction of TSH-receptor antibodies in patients with toxic multinodular goitre by radioiodine treatment. Horm Metab Res: 2002; 34 36 39
14. Jaeschke H., Mueller S., Eszlinger M., Paschke R. Lack of in vitro constitutive activity for four previously reported TSH receptor mutations identified in patients with nonautoimmune hyperthyroidism and hot thyroid carcinomas. Clin Endocrinol: 2010; 73 815 820
15. Mueller S., Jaeschke H., Paschke R. Current standards, variations, and pitfalls for the determination of constitutive TSHR activity in vitro. Meth Enzymol: 2010; 485 421 436
16. Neumann S., Krause G., Claus M., Paschke R. Structural determinants for g protein activation and selectivity in the second intracellular loop of the thyrotropin receptor. Endocrinology: 2005; 146 477 485
17. Grasberger H., Van Sande J., Hag-Dahood Mahameed A., Tenenbaum-Rakover Y., Refetoff S. A familial thyrotropin (TSH) receptor mutation provides in vivo evidence that the inositol phosphates/Ca2+ cascade mediates TSH action on thyroid hormone synthesis. J Clin Endocrinol Metab: 2007; 92 2816 2820
18. Kero J., Ahmed K., Wettschureck N., Tunaru S., Wintermantel T., Greiner E., Schütz G., Offermanns S. Thyrocyte-specific Gq/G11 deficiency impairs thyroid function and prevents goiter development. J Clin Invest: 2007; 117 2399 2407
19. Winkler F., Kleinau G., Tarnow P., Rediger A., Grohmann L., Gaetjens I., Krause G., l'Allemand D., Grüters A., Krude H., Biebermann H. A new phenotype of nongoitrous and nonautoimmune hyperthyroidism caused by a heterozygous thyrotropin receptor mutation in transmembrane helix 6. J Clin Endocrinol Metab: 2010; 95 3605 3610
20. Lueblinghoff J., Mueller S., Sontheimer J., Paschke R. Lack of consistent association of thyrotropin receptor mutations in vitro activity with the clinical course of patients with sporadic non-autoimmune hyperthyroidism. J Endocrinol Invest: 2010; 33 228 233