Congenital Hypothyroidism: The Experience Of A Pediatric Endocrinology Unit

Introduction: Congenital hypothyroidism is the most common congenital endocrine disease. Late diagnosis and treatment results in mental retardation and irreversible neurological damage. The objective was to characterize patients with congenital hypothyroidism and evaluate clinical outcomes and diagnostic reassessment.Methods: Retrospective and observational study, using data of the clinical processes of patients, currently under follow-up at the pediatric endocrinology unit of a tertiary hospital not considered a reference center.Results: Twenty-two patients with a median age of 7.5 years (minimum 4 months; maximum 17 years) were included. Twelve patients (54.5%) were female. The median TSH measurement at diagnosis was 201.5 mU/mL (minimum 13.4; maximum 934) and the age at the start of treatment was 12.5 days (minimum 7; maximum 285). Only one patient was not identified in the neonatal screening. Ultrasound revealed thyroid dysgenesis in 70% (n=14) and only one patient performed thyroid scintigraphy. Pro-longed jaundice was the most frequent sign at diagnosis. Of the total, 27.3 % (n=6) have associated congenital abnormalities and 18.2% (n=4) have family history of thyroid disease. After a diagnostic reassessment at 3 years old, two patients were reclassified as transient congenital hypothyroidism. None of the patient had growth disorders. Ten patients underwent a formal assessment of psychomo-tor development, and of these, five patients had abnormalities. No association was found between: the presence of signs/symptoms at diagnosis and the initial TSH value (p=0.694) neither with ultrasound findings (p=0.285) and between the initial TSH value and findings on thyroid ultrasound (p=0.706). The presence of abnormalities in psychomotor development did not show any association with the age at which treatment was started (p=0.740) nor with the initial TSH value (p=0.140).Conclusion: In this cohort of patients, the data are mostly consistent with those in the literature. It was possible to achieve the goal of adequate growth. Contrary to that described in other studies, psychomotor changes did not seem to be related to delayed initiation of therapy. They also identified the need for greater uniformity in follow-up.