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CLINICAL STUDY |
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): 2.462.3). 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: 0.75.2). Maternal diabetes was also found to be slightly associated with permanent CH (OR = 15.7, 95% CI: 0.9523) 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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