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Tourette Syndrome in a Patient With Resistance to Thyroid Hormone Syndrome
Alice Monzani, M.D.; Gianni Bona, M.D., Ph.D.; Stefania Moia, Ph.D.; Andrea Corrias, M.D.; Carla Miglio, M.D.; Andrea E. Cavanna, M.D., Ph.D.
The Journal of Neuropsychiatry and Clinical Neurosciences 2013;25:E09-E10. doi:10.1176/appi.neuropsych.12090210
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No disclosure/conflict of interest concerning the research related to the manuscript.

Division of Pediatrics, Department of Health Sciences, Università del Piemonte Orientale, Novara, Italy
Dept. of Pediatrics, Division of Pediatric Endocrinology, University of Torino, Torino, Italy
Pediatrics Dyslexia Centre, Via Baltimora 1bis, Torino, Italy
The Michael Trimble Neuropsychiatry Research Group, Department of Neuropsychiatry, University of Birmingham and BSMHFT, Birmingham, United Kingdom
Sobell Dept. of Motor Neuroscience and Movement Disorders, Institute of Neurology, UCL, London, United Kingdom

Correspondence: Andrea E. Cavanna, M.D., Ph.D.; e-mail: A.Cavanna@ion.ucl.ac.uk

Copyright © 2013 by the American Psychiatric Association

Extract

To the Editor: Resistance to thyroid hormone (RTH), first identified by Samuel Refetoff, is a syndrome with an estimated incidence of 1:40,000 live births, characterized by reduced end-organ responsiveness to thyroid hormones.1 RTH is most frequently caused by mutations involving the thyroid hormone receptor beta gene (THRB).2 The hormonal pattern is characterized by elevated serum free T4 (fT4) concentration, in association with nonsuppressed TSH, usually accompanied by high serum free T3 (fT3). Patients with RTH syndrome can present with considerable interindividual variations and heterogeneous phenotypes.2 The following symptoms and signs have consistently been associated with RTH: hyperactive behavior, speech impediment, developmental delay, learning disability, growth retardation, hearing loss, and sinus tachycardia.3

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References

Refetoff  S;  Weiss  RE;  Usala  SJ:  The syndromes of resistance to thyroid hormone.  Endocr Rev 1993; 14:348–399
[PubMed]
 
Sakurai  A;  Takeda  K;  Ain  K  et al:  Generalized resistance to thyroid hormone associated with a mutation in the ligand-binding domain of the human thyroid hormone receptor beta.  Proc Natl Acad Sci U S A 1989; 86:8977–8981
[CrossRef] | [PubMed]
 
Brucker-Davis  F;  Skarulis  MC;  Grace  MB  et al: The National Institutes of Health Prospective Study:  Genetic and clinical features of 42 kindreds with resistance to thyroid hormone.  Ann Intern Med 1995; 123:572–583
[CrossRef] | [PubMed]
 
Hauser  P;  Zametkin  AJ;  Martinez  P  et al:  Attention-deficit hyperactivity disorder in people with generalized resistance to thyroid hormone.  N Engl J Med 1993; 328:997–1001
[CrossRef] | [PubMed]
 
Cavanna  AE;  Servo  S;  Monaco  F  et al:  The behavioral spectrum of Gilles de la Tourette syndrome.  J Neuropsychiatry Clin Neurosci 2009; 21:13–23
[CrossRef] | [PubMed]
 
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