Programa de Triagem Neonatal para hipotireoidismo congênito de Santa Catarina, Brasil: avaliação etiológica no primeiro atendimento

Abstract

For the etiological diagnosis, history, physical examination, and additional tests (TSH, free thyroxine, thyroglobulin, bone age assessment, thyroid ultrasound) were carried out in the first visit. Results: The etiology was established in the first visit in 53.3% of cases. Thyroid dysgenesis represented 51.11% of the cases, from which 20% showed hypoplastic thyroid, 13.3% showed athyreosis, and 17.7% showed ectopic glands; 2.2% were diagnosed with dyshormonogenesis. Umbilical hernia was the most prevalent sign (48.89%) and 20% had no clinical manifestations. Patients with dysgenesis showed significant differences (p < 0.05) in terms of cesarean section delivery, delayed bone age, and very high serum TSH. Conclusions: The diagnostic approach used at first visit for PCH patients may determine the etiology in 53.3% of cases. Half of patients had thyroid dysgenesis. Arq Bras Endocrinol Metab. 2012;56(9):627-32

Impact of the reduction in TSH cutoff level to 6 mIU/L in neonatal screening for congenital hypothyroidism in Santa Catarina: final results

“…The coverage of the PTN-SES/SC during the period of the study was 87.94%, which was superior to the coverage of the same program in 2009 (84.67%) (9) and in other Brazilian states like Rio de Janeiro (80.4%) (14), Bahia (71.52%) (15), Mato Grosso (67.6%) (16), and Sergipe (76.8%) (17). The program is unable to achieve 100% coverage since some screening tests are carried out in private laboratories, and the amount of these tests or the number of positive results is not notified to the state.…”

“…In 2009, the ratio of births affected by congenital hypothyroidism to normal ones in Santa Catarina was 1:3,035 (9). This ratio increased to 1:1,560 with a reduction of the TSH cutoff level to 6 mIU/L, a finding that is aligned with the increased prevalence in other screening programs that reduced the cutoff levels for TSH (4,10,11,19,21).…”

“…It affects girls and boys at a ratio of 2:1 and has an increased prevalence in children with Down's syndrome (2). In Santa Catarina, congenital hypothyroidism affects 1 in every 3.035 newborns and has a higher prevalence in females compared with males (2:1) (9).…”

Fragilidades Na Avaliação Diagnóstica Do Hipotireoidismo Congênito Na Triagem Neonatal: Uma Revisão Integrativa De Literatura / Weaknesses in the Diagnostic Evaluation of Congenital Hypothyroidism in Neonatal Screening: An Integrative Literature Review

“…Além disso, o início do uso de medicamento nos primeiros três meses de vida potencializa a probabilidade de se obter um desenvolvimento neuropsicomotor normal. (MACIEL et al, 2013;OLIVEIRA;FERREIRA, 2010;BRASIL, 2010;NASCIMENTO et al, 2012…”