Characterization of patients diagnosed with congenital hypothyroidism at the Hospital Universitario San Ignacio between 2001 and 2017

Abstract

Introduction: Congenital hypothyroidism is a preventable cause of cognitive disability. Due to the absence of symptoms and signs in the newborn, it is necessary to perform screening tests. Its incidence ranges between 1:2,500 and 1:6,000.
Objective: To describe the anthropometric and demographic characteristics, as well as the cord TSH levels, serum TSH, and serum T4L levels of the positive patients during screening and patients with confirmed congenital hypothyroidism.
Materials and methods: We conducted a retrospective observational study for 17 years based on the review of clinical laboratory and medical records to describe the demographic and anthropometric characteristics of the patients at the time of diagnosis.
Results: We analyzed 41,494 newborns in the 17 years of follow-up; 217 (0.52%) were positive in the screening test and the diagnosis was confirmed by serum tests (TSH and free T4) in 19 cases (8.76%) for an incidence of one for every 2,183 live births; 78.95% of the children with congenital hypothyroidism were born full-term and the average gestational age was 37.3 weeks, similar to that of those with no congenital hypothyroidism. There was no difference in the average weight and height at birth between the children with the condition and those who did not have it. TSH in the cord in the cases of congenital hypothyroidism was significantly higher than in the discarded cases.
Conclusions: The incidence of congenital hypothyroidism was similar to that found in the literature. There were no relevant clinical differences between confirmed and ruled out cases reflecting the relevance of neonatal screening.