The Italian National Register of infants with congenital hypothyroidism: twenty years of surveillance and study of congenital hypothyroidism Antonella Olivieri* and The Study Group for Congenital Hypothyroidism

All the Italian Centres in charge of screening, diagnosis, and follow-up of infants with congenital hypothyroidism participate in the Italian National Registry of affected infants, which performs the nationwide surveillance of the disease. It was established in 1987 as a program of the Health Ministry and is coordinated by the Istituto Superiore di Sanità. The early diagnosis performed by the nationwide newborn screening programme, the prompt treatment and the appropriate clinical management of the patients carried out by the Follow-up Centres, and the surveillance of the disease performed by the National Register of infants with congenital hypothyroidism are the components of an integrated approach to the disease which has been successfully established in our country. The aim of the Register is to monitor efficiency and effectiveness of neonatal screening, to provide disease surveillance and to allow identification of possible aetiological risk factors for the disease. During the past twenty years the active and continuous collaboration between the Register and the Italian Screening and Follow up Centres for Congenital Hypothyroidism allowed to perform a standardization of screening procedures and considerable improvements in the time at starting treatment and in the dose of therapy. Furthermore, the large amount and the high quality of information collected in the Register provided a unique opportunity for research into the disease. This because data collected in the Register are highly representative as referred to the entire Italian population with congenital hypothyroidism. The results derived from the epidemiological studies performed in these years, by using the Register database, contributed to deepen the knowledge of congenital hypothyroidism, to start identifying the most important risk factors for the disease, and to orient molecular studies aimed at identifying new genes involved in the aetiology of this condition. Introduction The main objective of neonatal screening, the eradication of mental retardation after congenital hypothyroidism (CH), has been achieved in all the countries where nationwide screening programmes have been established [1-3]. In Italy the nationwide newborn screening programme for CH began in 1977 as a pilot program in 7 laboratories and then progressively developed all over the country. The Published: 20 February 2009 Italian Journal of Pediatrics 2009, 35:2 doi:10.1186/1824-7288-35-2 Received: 19 December 2008 Accepted: 20 February 2009 This article is available from: http://www.ijponline.net/content/35/1/2 © 2009 Olivieri and The Study Group for Congenital Hypothyroidism; licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.