ESPE Abstracts (2019) 92 P1-155

Congenital Hypothyroidism Newborn Profile After a Lower TSH Cutoff for Neonatal Screening in Southern Brazil

MARCIA INES BOFF RIZZOTTO1, Cristiane Kopacek 2,3, Simone Martins de Castro3,4, Sabliny Carreiro Ribeiro3, Jose Mauro Madi1, Rosa Maria Rahmi Garcia1


1Universidade de Caxias do Sul, Caxias do Sul, Brazil. 2Universidade Federal de Ciências Médicas de Porto Alegre, Porto Alegre, Brazil. 3Hospital Materno Infantil Presidente Vargas, Porto Alegre, Brazil. 4Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil


Introduction: The ideal TSH filter value (TSHf) in the neonatal screening tests for Congenital hypothyroidism (CH) is worldwide controversial. Local cutoff point of TSHf was 9.0 mIU/L until recently. OBJECTIVE: To evaluate the clinical and laboratory characteristics of newborns with CH (confirmatory serum TSH > 10 mIU/L) after a lower TSH cutoff. METHODS: Cross-sectional study using data from Neonatal Screening Reference Center of State Rio Grande do Sul, 2018. All cases with TSHf ≥ 6.0 mIU/L were evaluated. A second filter test was performed if the first one (TSH1) was between 6 and 9.0 mIU/L. Newborns with a second TSH filter (TSH2) above 6 mIU/L were called up for confirmatory tests and clinical evaluation. RESULTS: Of the 106,594 screening tests, 244 (0.22%) resulted in TSHf ≥ 6.0 mIU/L. Patients with TSHf1 > 9.0 mIU/L [58 (24%)], were called up for immediate confirmatory tests; patients with TSHf1 6-9.0 mIU/L, [186 (76%)], were submitted to a second filter test (TSHf2). Of these, 153 (82.25%) were discharged after TSHf2 < 6.0 mUI/L. Patients with TSHf2 > 6 mUI/L (21 cases) were referred for consultation. Twelve cases did not perform the second test and were not included. The incidence of altered tests was 7: 10,000 (95% CI: 6-9). The cases were classified by group (G) was: G1: TSHf1 and TSHf2 > 6.0 and < 9.0 mIU/L [11 (13.9%)]; G2: TSHf1 > 6.0 and < 9.0mIU/L and TSHf2 > 9.0 mIU/L [10 (12.7%)]; G3: TSHf1 > 9.0 mIU/L [58 (73.4%)]. The cases of CH (serum TSH > 10 mIU/L) were 9 (81.8%), 10 (100%), 33 (58.9%) in G1, G2 and G3 respectively. The prevalence of CH was 1:2000. Consanguinity, gestational thyroid disease and presence of congenital malformations were more prevalent in G1, Drug addiction and and genetic syndromes were more present in G2. CONCLUSION: The new cutoff point identified about 19 patients/year. This cases would no longer be diagnosed early if the previously established cutoff point was sustained. Despite the small number of patients studied and a short period of evaluation, these results support the new cutoff proposal. Furthermore, the presence of consanguinity, malformations and/or syndromes in the groups with TSH filter of lower cutoff points draws attention to the possibility of a diagnosis of CH.

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