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

P. Torre, M. Bertoli, S. Di Giovanni, S. Scommegna, C. Conte, G. Novelli, S. Cianfarani

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)657-662
Number of pages6
JournalJournal of Endocrinological Investigation
Volume28
Issue number7
Publication statusPublished - 2005

Keywords

  • Attention deficit-hyperactivity disorder
  • Resistance to thyroid hormone
  • Thyroid
  • Thyroid hormone receptor
  • Triiodothyroacetic acid

ASJC Scopus subject areas

  • Endocrinology

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