Risk factors for congenital hypothyroidism: Results of a population case-control study (1997-2003)

Emmanuela Medda, Antonella Olivieri, Maria Antonietta Stazi, Michele E. Grandolfo, Cristina Fazzini, Mariangiola Baserga, Massimo Burroni, Emanuele Cacciari, Francesca Calaciura, Alessandra Cassio, Luca Chiovato, Pietro Costa, Daniela Leonardi, Maria Martucci, Lidia Moschini, Severo Pagliardini, Giuseppe Parlato, Alberto Pignero, Aldo Pinchera, Daniela SalaLidia Sava, Vera Stoppioni, Francesco Tancredi, Fabiola Valentini, Riccardo Vigneri, Mariella Sorcini

Research output: Contribution to journalArticlepeer-review


Objective: To identify risk factors for permanent and transient congenital hypothyroidism (CH). Design: A population-based case-control study was carried out by using the network created in Italy for the National Register of Infants with CH. Methods: Four controls were enrolled for each new CH infant; 173 cases and 690 controls were enrolled in 4 years. In order to distinguish among risk factors for permanent and transient CH, diagnosis was re-evaluated 3 years after enrolment when there was a suspicion of transient CH being present. Familial, maternal, neonatal and environmental influences were investigated. Results: An increased risk for permanent CH was detected in twins by a multivariate analysis (odds ratio (OR) = 12.2, 95% confidence interval (CI): 2.4-62.3). A statistically significant association with additional birth defects, female gender and gestational age >40 weeks was also confirmed. Although not significant, an increased risk of CH was observed among infants with a family history of thyroid diseases among parents (OR = 1.9, 95% CI: 0.7-5.2). Maternal diabetes was also found to be slightly associated with permanent CH (OR = 15.7, 95% CI: 0.9-523) in infants who were large for gestational age. With regard to transient CH, intrauterine growth retardation and preterm delivery were independent risk factors for this form of CH. Conclusion: This study showed that many risk factors contribute to the aetiology of CH. In particular, our results suggested a multifactorial origin of CH in which genetic and environmental factors play a role in the development of the disease.

Original languageEnglish
Pages (from-to)765-773
Number of pages9
JournalEuropean Journal of Endocrinology
Issue number6
Publication statusPublished - Dec 2005

ASJC Scopus subject areas

  • Endocrinology


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