Evolution to permanent or transient conditions in children with positive neonatal TSH screening tests in Sergipe,

Diana M Matos1, Roberto J R Ramalho1, Bruno M Carvalho1

  • 1Departamento de Medicina, Hospital Universitário, Universidade Federal de Sergipe (UFS), Aracaju, SE, Brasil.

Insights

Follow-up is crucial for children with elevated neonatal TSH tests to distinguish permanent congenital hypothyroidism from transient conditions. Predicting the outcome is challenging, necessitating ongoing monitoring.

Area of Science:

  • Endocrinology
  • Neonatal screening
  • Public health

Background:

  • Neonatal screening programs identify infants with potential thyroid dysfunction.
  • Early detection of congenital hypothyroidism (CH) is vital for neurodevelopmental outcomes.
  • Distinguishing permanent CH from transient TSH elevation is essential for appropriate management.

Purpose of the Study:

  • To evaluate the long-term outcomes of infants with positive neonatal TSH screening in Sergipe, Brazil.
  • To determine the incidence of permanent CH, hyperthyrotropinemia, and transient TSH elevation.
  • To assess the necessity of follow-up for accurate diagnosis.

Main Methods:

  • Analysis of 193,794 screened newborns with elevated TSH levels (≥5.2 µU/mL).
  • Classification of infants into initial diagnoses of CH or suspect CH based on confirmatory TSH.
  • Categorization into permanent CH, hyperthyrotropinemia, or transient TSH elevation after follow-up.

Main Results:

  • Of 713 infants with elevated TSH, 37 had initial CH (18.1%) and 167 had suspect CH (81.9%).
  • Final diagnoses included 46 permanent CH (22.5%), 56 hyperthyrotropinemia (27.5%), and 102 transient TSH elevation (50.0%).
  • Incidence rates were 1:4,166 for permanent CH, 1:3,448 for hyperthyrotropinemia, and 1:1,887 for transient TSH elevation.

Conclusions:

  • Follow-up is essential for accurate diagnosis in infants with abnormal neonatal TSH screening.
  • Predicting the evolution to permanent or transient thyroid dysfunction is difficult.
  • Ongoing monitoring ensures appropriate management of congenital hypothyroidism and related conditions.
Abstract

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