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DOI: 10.1530/eje.1.02048
European Journal of Endocrinology, Vol 153, Issue 6, 765-773
Copyright © 2005 by European Society of Endocrinology
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CLINICAL STUDY

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

Emanuela Medda, Antonella Olivieri1, Maria Antonietta Stazi, Michele E Grandolfo, Cristina Fazzini1, Mariangiola Baserga2, Massimo Burroni4, Emanuele Cacciari5, Francesca Calaciura6, Alessandra Cassio5, Luca Chiovato7, Pietro Costa8, Daniela Leonardi6, Maria Martucci3, Lidia Moschini8, Severo Pagliardini9, Giuseppe Parlato3, Alberto Pignero10, Aldo Pinchera11, Danielle Sala10, Lidia Sava6, Vera Stoppioni4, Francesco Tancredi10, Fabiola Valentini8, Riccardo Vigneri6 and Mariella Sorcini1

Centro Nazionale di Epidemiologia, Sorveglianza e Promozione della Salute and 1 Dipartimento di Biologia Cellulare e Neuroscienze, Istituto Superiore di Sanità, Rome, Italy, 2 Istituto di Pediatria and 3 Servizio di Chimica Clinica, Facoltà di Medicina e Chirurgia, Università di Catanzaro, Catanzaro, Italy. 4 Neuropsichiatria Infantile, Ospedale, Fano, Italy, 5 Clinica Pediatrica Università di Bologna, Bologna, Italy, 6 Cattedra di Endocrinologia, Università di Catania, Catania, Italy, 7 IRCCS Maugeri, Università di Pavia, Pavia, Italy, 8 Dipartimento Scienze Ginecologiche Perinatologia e Puericultura, Università ‘La Sapienza’, Rome. Italy and 9 Dipartimento di Patologia Clinica A.O. OIRM, S. Anna, Turin, Italy, 10 Centro Screening, Ospedale S.S. Annunziata, Naples, Italy 11 Dipartimento di Endocrinologia e Metabolismo, Ortopedia e Traumatologia, Medicina del Lavoro, Università di Pisa, Pisa, Italy

(Correspondence should be addressed to M Sorcini, Dipartimento di Biologia Cellulare e Neuroscienze, Istituto Superiore di Sanità, Viale Regina Elena 299, 00161 Rome, Italy; Email: olivieri{at}iss.it)

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.




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