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. 2023 May 12;67(4):e000606.
doi: 10.20945/2359-3997000000606.

Epidemiological profile of congenital hypothyroidism at a southern Brazilian state

Márcia Inês Boff  1 , Cristiane Kopacek  2   3   4 , Vandrea Carla de Souza  5 , Sabliny Carreiro Ribeiro  2 , Edmundo Kreisner  2 , Paula Regla Vargas  2 , Livia Silveira Mastella  6 , José Mauro Madi  7 , Simone Martins de Castro  2   4 , Rosa Maria Rahmi  8
Affiliations

Epidemiological profile of congenital hypothyroidism at a southern Brazilian state

Márcia Inês Boff et al. Arch Endocrinol Metab. .

Abstract

Objective: To determine the incidence of congenital hypothyroidism (CH) over a 10-year period at the Reference Service in Neonatal Screening of the state of Rio Grande do Sul (RSNS-RS).

Subjects and methods: Historical cohort study including all newborns screened for CH by the RSNS-RS from January 2008 until December 2017. Data of all newborns with neonatal TSH (neoTSH; heel prick test) values ≥ 9 mIU/L were collected. According to neoTSH values, the newborns were allocated into two groups: Group 1 (G1), comprising newborns with neoTSH ≥ 9 mIU/L and serum TSH (sTSH) < 10 mIU/L, and Group 2 (G2), comprising those with neoTSH ≥ 9 mIU/L and sTSH ≥ 10 mIU/L.

Results: Of 1,043,565 newborns screened, 829 (0.08%) had neoTSH values ≥ 9 mIU/L. Of these, 284 (39.3%) had sTSH values < 10 mIU/L and were allocated to the G1 group, while 439 (60.7%) had sTSH ≥ 10 mIU/L and were allocated to the G2 group, and 106 (12.7%) were considered missing data. The overall incidence of CH was 42.1 per 100,000 newborns screened (95% confidence interval [CI] 38.5-45.7/100,000) or 1:2377 screened newborns. The sensibility and specificity of neoTSH ≥ 9 mIU/L were 97% and 11%; of neoTSH 12.6 mUI/L, 73% and 85% respectively.

Conclusion: In this population, the incidence of permanent and transitory CH was 1:2377 screened newborns. The neoTSH cutoff value adopted during the study period showed excellent sensibility, which matters for a screening test.

Keywords: Congenital hypothyroidism; incidence; neonatal screening; public health.

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Conflict of interest statement

Disclosure: no potential conflict of interest relevant to this article was reported.

Figures

Figure 1
Figure 1. Flowchart outlining the inclusion of the study sample. *Newborns recruited for sTSH measurement and clinical evaluation. **Missing data due to the absence of sTSH records. Abbreviations – NB: newborn; neoTSH: neonatal TSH; sTSH: serum TSH; G1: Group 1; G2: Group 2.
Figure 2
Figure 2. Trend graph outlining the overall yearly incidence rates of congenital hypothyroidism at the RSNS-RS program in 2008-2017. The thin line represents the incidence per 100,000 screened newborns, and the thick line represents the smoothed trend.
Figure 3
Figure 3. Receiver operating characteristic curve (ROC) and area under curve (AUC) of neonatal TSH values.
See this image and copyright information in PMC

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