Document Detail


Screening for congenital hypothyroidism: the significance of threshold limit in false-negative results.
MedLine Citation:
PMID:  20591982     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
CONTEXT: In our neonatal program, a number of infants with congenital hypothyroidism (CH) had escaped diagnosis, when a spot RIA-TSH value of 20 mU/liter whole blood was used as a cutoff point. OBJECTIVE: The objective of the study was to find out prospectively the additional number of newborns with CH if the TSH cutoff point is lowered to 10 mU/liter. POPULATION AND METHODS: The study included 311,390 screened newborns. The children with CH were followed up for a period of 3 yr. RESULTS: Twenty-eight percent of infants diagnosed with CH had neonatal TSH values between 10 and 20 mU/liter (56 of 200). Forty of 47 infants, who were reevaluated later on (85.1%), suffered permanent CH. A thyroid scintiscan and/or echogram revealed that eight of 40 children (20.0%) had a structural defect, and the remaining (32 of 40) had a functional defect of the thyroid gland without anatomical abnormality; 14 of 32 cases were familial. Eighteen of the 47 reevaluated infants were prematurely born (38.3%) and 15 of these 18 had permanent CH (83.3%). The lowering of TSH cutoff point from 20 to 10 mU/liter resulted in a 10-fold increase of recall rate. CONCLUSIONS: A significant number of cases with permanent CH are missed when a TSH threshold of 20 mU/liter is applied. Almost 40% of the missed CH cases were premature. A mild increase of TSH at screening is not a predictor of transient CH. The increase in recall rate constitutes a serious drawback and should be balanced against the possible consequences of thyroid dysfunction at this important developmental stage.
Authors:
Chryssanthi Mengreli; Christina Kanaka-Gantenbein; Panagiotis Girginoudis; Maria-Alexandra Magiakou; Ioulia Christakopoulou; Aglaia Giannoulia-Karantana; George P Chrousos; Catherine Dacou-Voutetakis
Publication Detail:
Type:  Evaluation Studies; Journal Article     Date:  2010-06-30
Journal Detail:
Title:  The Journal of clinical endocrinology and metabolism     Volume:  95     ISSN:  1945-7197     ISO Abbreviation:  J. Clin. Endocrinol. Metab.     Publication Date:  2010 Sep 
Date Detail:
Created Date:  2010-09-08     Completed Date:  2010-09-28     Revised Date:  2010-11-15    
Medline Journal Info:
Nlm Unique ID:  0375362     Medline TA:  J Clin Endocrinol Metab     Country:  United States    
Other Details:
Languages:  eng     Pagination:  4283-90     Citation Subset:  AIM; IM    
Affiliation:
Department of Biochemical Laboratories, Institute of Child Health, Aghia Sophia Children's Hospital, 11527-Goudi, Athens, Greece. chmengreli@ich.gr
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MeSH Terms
Descriptor/Qualifier:
Child
Child, Preschool
Congenital Hypothyroidism / diagnosis*
Diagnostic Techniques, Endocrine / standards*
False Negative Reactions
Humans
Infant
Infant, Newborn
Infant, Premature / blood
Limit of Detection*
Neonatal Screening / methods
Reference Values
Thyrotropin / analysis,  blood,  standards
Chemical
Reg. No./Substance:
9002-71-5/Thyrotropin
Comments/Corrections
Comment In:
J Clin Endocrinol Metab. 2010 Sep;95(9):4223-5   [PMID:  20823472 ]
Nat Rev Endocrinol. 2010 Oct;6(10):534

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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