Endocrine Abstracts

Introduction: Neonatal screening is an effective method for early detection of congenital hypothyroidism, a disorder that requires the prompt initiation of the treatment, in order to prevent the subsequent neuropsychiatric impairments. Neonatal screening for hypothyroidism in Romania was initiated as a pilot project in 1979, has been expanded since 2002, and is currently conducted through the National Health Program funded by the Ministry of Health.

Objective: To assess the current state of hypothyroidism screening and management in Romania and determine the incidence of hypothyroidism at birth in 2013.

Material and methods: We analysed data reported to the Implementation Unit of Health Programs in 2013 by the four regional centres (Bucharest, Cluj, Iasi and Timisoara) and the parameters registered in the Hypothyroidism National Registry (in Bucharest and Iasi). Confirmed cases were treated and monitored by the endocrinology network. All the newborns were investigated by the ‘dry spot’ method; blood samples were collected from the heels. TSH levels were assessed by immunofluorimetric method in three regional centres and by Elisa technique in the fourth. The diagnosis was locally confirmed by TSH, T₄ and free-T₄ levels in patients serum.

Results: In 2013, 92.76% of newborns were screened for hypothyroidism. 96 patients (0.07%) were found positive, when a neo-TSH cut-off value of 15 mU/l was used; in 41 newborns (0.03%) congenital hypothyroidism was confirmed. The family refused the diagnosis investigations in three patients (0.002%). The hypothyroidism incidence in this study is 1/3409 infants.

Conclusion: The incidence of congenital hypothyroidism in Romania is within the limits reported in literature. We attempt to increase the number of the newborns tested for hypothyroidism by raising awareness about screening benefit among the families. Taking into account the false positive cases, we estimate that ongoing studies will enable the increase of the neo-TSH cut-off value at 17 mU/l.