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Klin Padiatr 2010; 222(7): 462-463
DOI: 10.1055/s-0030-1265180
DOI: 10.1055/s-0030-1265180
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© Georg Thieme Verlag KG Stuttgart · New York
Detection of a Mutation in the Thyroid Hormone Receptor Beta Gene as a Cause of Pathological Laboratory Test Results in an Euthyreotic Toddler
Nachweis einer Mutation im Schilddrüsenhormon-ß-Rezeptor-Gen als Ursache pathologischer Laborwerte eines klinisch euthyreoten KleinkindesFurther Information
Publication History
Publication Date:
25 November 2010 (online)
Key words
RTH - hyperthyroxinemia - genetics - thyroid hormone receptor-beta
Schlüsselwörter
RTH - Hyperthyroxinämie - Genetik - Schilddrüsenhormon-ß-Rezeptor
References
- 1 Beck-Peccoz P, Chatterjee VK, Chin WW. et al . Nomenclature of thyroid hormone receptor beta gene mutation in resistance to thyroid hormone: consensus statement from the First Workshop on Thyroid Hormone Resistance. Clin Endocrinol. 1994; 40 697-700
- 2 Beck-Peccoz P, Chatterjee VK. The variable clinical phenotype in thyroid hormone resistance syndrome. Thyroid. 1994; 4 225-232
- 3 Beck-Peccoz P, Mannavola D, Persani L. Syndromes of thyroid hormone resistance. Ann Endocrinol. 2005; 66 264-269
- 4 Beck-Peccoz P, Piscitelli G, Cattaneo MG. et al . Successful treatment of hyperthyroidism due to nonneoplastic pituitary TSH hypersecretion with 3,5,3’ triiodothyroacetic acid (TRIAC). J Endocrinol Invest. 1983; 6 217-223
- 5 Brecht IB, Graf N, von Schweinitz D. et al . Networking for children and adolescents with very rare tumors: Foundation of the GPOH Pediatric Rare tumor group. Klin Padiatr. 2009; 221 181-185
- 6 Dundar B, Bober E, Buyukgebiz A. Successful therapy with L-T4 in a 5-year-old boy with generalized thyroid hormone resistance. J Pediatr Endocrinol Metab. 2003; 16 1051-1056
- 7 Höpfner S, Koehler N, Höpfner B. et al . Neonatal screening for congenital hypothyreoidism in Germany. The development of concerned children in retrospect analysis using the federal state “Hessen”. Klin Padiatr. 2007; 219 206-211
- 8 Retetoff S, Weiss RE, Usala SJ. The syndromes of resistance to thyroid hormone. Endocr Rev. 1993; 14 348-399
- 9 Torre P, Bertoli M, Di Giovanni S. et al . Endocrine and neuropsychological assessment in a child with a novel mutation of thyroid hormone receptor: response to 12-month triiodo-thyroacetic acid (TRIAC) therapy. J Endocrinol Invest. 2005; 28 657-662
- 10 Weiss RE, Retetoff S. J Clin treatment of resistance to thyroid hormone — primum non nocere. Endocrinol Metab. 1999; 84 401-404
Correspondence
Dr. Gitta Kameda
Universitätsklinikum Düsseldorf
Klinik für Allgemeine Pädiatrie
Moorenstraße 5
40225 Düsseldorf
Germany
Phone: +49/211/811 7687
Fax: +49/211/811 8757
Email: Gitta.Kameda@med.uni-duesseldorf.de