Document Detail

Is the incidence of congenital hypothyroidism really increasing? A 20-year retrospective population-based study in Québec.
MedLine Citation:
PMID:  21632812     Owner:  NLM     Status:  MEDLINE    
CONTEXT: Congenital hypothyroidism (CH) is reportedly increasing in the United States, possibly reflecting changes in screening methods. In Québec, the same initial TSH cutoff (15 mU/liter) has been used for the last 20 yr, but in 2001, the cutoff was decreased from 15 to 5 mU/liter for the second test, which is requested when TSH is intermediate (15-30 mU/liter) on the first.
OBJECTIVES: Our objective was to assess the incidence of CH over the last 20 yr in Québec.
DESIGN, SETTING, PATIENTS, AND MAIN OUTCOME MEASURE: This is a population-based retrospective study. Incidences by etiology based on thyroid scintigraphy with technetium were compared between 1990-2000 and 2001-2009.
RESULTS: Of 1,660,857 newborns over 20 yr, 620 had CH (incidence 1:2679). Etiology was dysgenesis (n = 389, 1:4270), either ectopy (n = 290) or athyreosis (n = 99), goiter (n = 52, 1:31,940), normal-size gland in situ (n = 115, 1:14,442), and unknown (n = 64, 1:25,950). The new screening algorithm identified 49 additional cases (i.e. 25 normal-size gland in situ, 12 unknown etiology, 10 ectopies, and two goiters). Consequently, the incidence of normal-size gland in situ or of unknown etiology more than doubled (1:22,222 to 1:9,836, P = 0.0015; and 1:43,824 to 1:17,143, P = 0.0018, respectively) but that of dysgenesis and goiter remained stable. Had the 1990-2000 algorithm been applied in 2001-2009, no change in incidence would have been observed in any category.
CONCLUSION: Estimating the incidence of CH is influenced by minimal changes in TSH screening cutoffs. Lower cutoffs identify additional cases that have predominantly functional disorders whose impact on intellectual disability, if left untreated, remains to be determined.
Johnny Deladoëy; Jean Ruel; Yves Giguère; Guy Van Vliet
Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't     Date:  2011-06-01
Journal Detail:
Title:  The Journal of clinical endocrinology and metabolism     Volume:  96     ISSN:  1945-7197     ISO Abbreviation:  J. Clin. Endocrinol. Metab.     Publication Date:  2011 Aug 
Date Detail:
Created Date:  2011-08-05     Completed Date:  2011-10-14     Revised Date:  2013-11-06    
Medline Journal Info:
Nlm Unique ID:  0375362     Medline TA:  J Clin Endocrinol Metab     Country:  United States    
Other Details:
Languages:  eng     Pagination:  2422-9     Citation Subset:  AIM; IM    
Endocrinology Service and Research Center, Sainte-Justine Hospital and Department of Pediatrics, University of Montreal, Montreal H3T 1C5, Canada.
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MeSH Terms
Birth Weight
Congenital Hypothyroidism / epidemiology*,  radionuclide imaging*
Databases, Factual / statistics & numerical data
Follow-Up Studies
Infant, Newborn
Mass Screening / statistics & numerical data*
Neonatal Screening
Quebec / epidemiology
Radionuclide Imaging / methods,  statistics & numerical data
Retrospective Studies
Sex Distribution
Technetium / diagnostic use
Reg. No./Substance:
Comment In:
J Clin Endocrinol Metab. 2011 Aug;96(8):2395-7   [PMID:  21816799 ]

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