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.
Torre, P., Bertoli, M., Di Giovanni, S., Scommegna, S., Conte, C., Novelli, G., et al. (2005). Endocrine and Neuropsychological Assessment in a Child with a Novel Mutation of Thyroid Hormone Receptor. Response to 12-months Triiodothyroacetic Acid (TRIAC) Therapy. JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION, 28(7), 657-662.
Endocrine and Neuropsychological Assessment in a Child with a Novel Mutation of Thyroid Hormone Receptor. Response to 12-months Triiodothyroacetic Acid (TRIAC) Therapy
NOVELLI, GIUSEPPE;CIANFARANI, STEFANO
2005-01-01
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.Questo articolo è pubblicato sotto una Licenza Licenza Creative Commons
