NDLI: An increased prevalence of thyroid disease in children with 22q11.2 deletion syndrome.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Shugar, Andrea L. Shapiro, Jessica M. Cytrynbaum, Cheryl Hedges, Stephanie Weksberg, Rosanna Fishman, Leona
Spatial Coverage	Ontario
Description	Country affiliation: Canada Author Affiliation: Shugar AL ( Division of Clinical & Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada.); Shapiro JM ( Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada.); Cytrynbaum C ( School of Medicine, University of Queensland, Brisbane, Queensland, Australia.); Hedges S ( Division of Clinical & Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada.); Weksberg R ( Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada.); Fishman L ( Division of Clinical & Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada.)
Abstract	We reviewed the health records of pediatric patients with 22q11.2 deletion syndrome (22q11.2 DS) seen over a 5-year period in our 22q11.2 DS multidisciplinary clinic. We determined the prevalence of thyroid dysfunction in this population, in comparison to general population data. Statistical tests were applied to investigate trends in gender differences, thyroid disease subtype and co-morbid conditions in the patients identified with thyroid disease. Of 169 subjects (92 male, 77 female) 9.5% had overt thyroid disease; of these, 1.8% had hyperthyroidism and 7.7% had hypothyroidism; 42% of patients with subclinical or prodromal thyroid disease progressed to overt disease. Our data indicate that thyroid disease prevalence in the 22q11DS pediatric population is significantly higher than that in the general pediatric population Furthermore, over 1/3 of patients in our study population who presented with subclinical thyroid disease progressed to overt disease, requiring medical therapy. Thyroid disease screening should be incorporated into routine medical management of children with 22q11.2 DS. Guidelines for screening individuals with 22q11.2 DS are presented.
File Format	HTM / HTML
ISSN	15524825
Issue Number	7
Volume Number	167
e-ISSN	15524833
Journal	American Journal of Medical Genetics Part A
Language	English
Publisher	Wiley-Blackwell
Publisher Date	2015-07-01
Publisher Place	United States
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Discipline Human Discipline Genetics 22q11 Deletion Syndrome Epidemiology Pathology Thyroid Diseases Complications Adolescent Child Child, Preschool Female Humans Infant Male Ontario Prevalence Retrospective Studies Etiology Journal Article
Content Type	Text
Resource Type	Article
Subject	Genetics Genetics (clinical)

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