Document Detail

A population-based study on the frequency of additional congenital malformations in infants with congenital hypothyroidism: data from the Italian Registry for Congenital Hypothyroidism (1991-1998).
MedLine Citation:
PMID:  11836285     Owner:  NLM     Status:  MEDLINE    
In the last decade a high frequency of other congenital anomalies has been reported in infants with congenital hypothyroidism (CH) detected by neonatal screening. In the present study the occurrence of additional congenital malformations (CM) in the population of CH infants detected in Italy between 1991 and 1998 (n = 1420) was investigated. In Italy all of the centers in charge of screening, treatment, and follow-up of CH adhere to the Italian National Registry of infants with CH. In this study a high prevalence of additional CM (8.4%), more than 4-fold higher than that reported in the Italian population (1-2%), was found in the population of CH infants. Cardiac anomalies represented the most frequent malformations associated with CH, with a prevalence of 5.5%. However, a significant association between CH and anomalies of nervous system, eyes, and multiple CM was also observed. In conclusion, the significantly higher frequency of extrathyroidal congenital malformations reported in the CH infants than in the general population represents a further argument supporting the role of a genetic component in the etiology of CH. Investigations of the molecular mechanisms underlying developmental events of formation of thyroid and other organs represent critical steps in the knowledge of CH etiology.
A Olivieri; M A Stazi; P Mastroiacovo; C Fazzini; E Medda; A Spagnolo; S De Angelis; M E Grandolfo; D Taruscio; V Cordeddu; M Sorcini;
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  The Journal of clinical endocrinology and metabolism     Volume:  87     ISSN:  0021-972X     ISO Abbreviation:  J. Clin. Endocrinol. Metab.     Publication Date:  2002 Feb 
Date Detail:
Created Date:  2002-02-11     Completed Date:  2002-03-01     Revised Date:  2007-11-15    
Medline Journal Info:
Nlm Unique ID:  0375362     Medline TA:  J Clin Endocrinol Metab     Country:  United States    
Other Details:
Languages:  eng     Pagination:  557-62     Citation Subset:  AIM; IM    
National Institute of Health, Catholic University of Sacred Heart, 00161 Rome, Italy.
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MeSH Terms
Abnormalities, Multiple / epidemiology
Congenital Abnormalities / epidemiology*
Congenital Hypothyroidism*
Eye Abnormalities / complications,  epidemiology
Hypothyroidism / complications*
Infant, Newborn
Neonatal Screening / standards
Nervous System Malformations / complications,  epidemiology

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