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Endocrine and neuropsychological assessment in a child with a novel mutation of thyroid hormone receptor: Response to 12- month triiodothyroacetic acid (TRIAC) therapy

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Abstract

Objective: To determine the endocrine, neuropsychological and genetic features of a child with resistance to thyroid hormone (RTH), and his response to long-term triiodothyroacetic acid (TRIAC) therapy. Methods: Growth, thyroid function, and neuropsychology were assessed at baseline and during 12-month TRIAC therapy. Genetic analysis was performed by PCR and denaturing high performance liquid chromatography. Results: The main clinical finding was the attention deficit-hyperactivity disorder (ADHD). A novel mutation in exon 10 (phenylalanine to isoleucine in codon 455) was found. Long-term TRIAC therapy was effective in the management of the endocrine and neuropsychological manifestations of the syndrome. Conclusions: ADHD was the only phenotypic manifestation of this novel mutation of thyroid hormone (TH) receptor. TRIAC is an effective and safe drug in the long-term treatment of children with RTH.

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Authors and Affiliations

  1. Centro di Endocrinologia Pediatrica “Rina Balducci”, Dipartimento Sanità pubblica e Biologia Cellulare, Stanza E-1 78, Università “Tor Vergata”, Via Montpellier 1, 00133, Rome, Italia

    P. Torre &  S. Cianfarani MD

  2. Department of Biopathology and Diagnostic Imaging, “Tor Vergata” University, Italy

    M. Bertoli, C. Conte & G. Novelli

  3. Department of Neurosurgery, “Catholic” University, Italy

    S. Di Giovanni

  4. Department of Pediatrics, “San Camillo” Hospital, Rome, Italy

    S. Scommegna

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  1. P. Torre
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  2. M. Bertoli
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  3. S. Di Giovanni
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  4. S. Scommegna
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  5. C. Conte
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  6. G. Novelli
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  7. S. Cianfarani MD
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Correspondence to S. Cianfarani MD.

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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 triiodothyroacetic acid (TRIAC) therapy. J Endocrinol Invest 28, 657–662 (2005). https://doi.org/10.1007/BF03347267

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  • DOI: https://doi.org/10.1007/BF03347267

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