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).
J Clin Endocrinol Metab
; 87(2): 557-62, 2002 Feb.
Article
en En
| MEDLINE
| ID: mdl-11836285
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.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Anomalías Congénitas
/
Hipotiroidismo Congénito
/
Hipotiroidismo
Tipo de estudio:
Incidence_studies
/
Prevalence_studies
/
Prognostic_studies
/
Risk_factors_studies
Límite:
Female
/
Humans
/
Infant
/
Male
/
Newborn
País/Región como asunto:
Europa
Idioma:
En
Revista:
J Clin Endocrinol Metab
Año:
2002
Tipo del documento:
Article
País de afiliación:
Italia
Pais de publicación:
Estados Unidos