Extrathyroidal congenital defects in children with congenital hypothyroidism – observations from a single paediatric centre in Central Europe with a review of literature

Abstract

Introduction: Patients with congenital hypothyroidism (CH) can have an increased risk of occurrence of extrathyroidal defects compared to the general population, which could influence their development. The abnormalities occur mainly in organ systems whose development and function is dependent on genes that are also responsible for proper organogenesis of the thyroid gland and thyroid hormone synthesis. Aim of the study: The aim of the study was to evaluate the frequency of extrathyroidal defects in CH patients, taking into consideration the cause of this co-occurrence and the role of genetic tests. Material and methods: The study included 54 newborns with positive screening test for CH based on elevated TSH level, in the years 2010-2017, from SouthEastern Poland. The data was retrieved retrospectively from patients' medical records. Results: Twenty of 54 newborns with CH (37%) had congenital defects of other organs. In 10 (18.5%) cardiac defects were found, in 5 (9.25%) abnormal symptoms of the respiratory system, 7 (12.96%) had abnormalities of the gastrointestinal system, five (9.25%) had genitourinary abnormalities, 3 (5.55%) had abnormalities of the nervous system, and 6 (11.1%) had musculoskeletal abnormalities. Conclusions: The analysis of our data and current literature suggests that genetic factors play the most important role in the development of extrathyroidal abnormalities in newborns with CH. Identifying the mutation causing CH, the potential defects that can accompany newborns with CH, screening could be offered for these patients in order to obtain an earlier diagnosis and implement early and appropriate treatment.

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