ESPE Yearbook of Paediatric Endocrinology

Brief summary: Patients with congenital hypothyroidism have a higher rate of comorbidities in adult age (1). This nationwide population-based register study aimed at investigating the incidence of comorbidities present at birth or acquired during childhood in patients with congenital hypothyroidism and prescription of specific drugs (antidepressants, antipsychotics, medication for ADHS).

The study analyzed data from n=438 full-term patients with congenital hypothyroidism with n=835 matched controls with a median follow-up time of 11.6 years (range 0–23 years). The incidences of the following neonatal comorbidities were significantly higher in patients with congenital hypothyroidism than in controls: jaundice (11.2% and 2.0%), hypoglycemia (8.9% and 2.8%), metabolic acidosis (3.2% and 1.1%), and respiratory distress (3.9% and 1.3%). The incidence of congenital malformations was twice as high in the congenital hypothyroidism group compared to controls (15.1% and 7.4%). At the age of 15 years, cumulative incidence of hearing loss (5.0% and 1%), disorders of neurocognitive development (14.1% and 5.6%), and intellectual impairment (2.9% and 0.5%) were significantly increased in patients versus controls. Use of antidepressants, antipsychotics, medication for ADHS were statistically not different.

Based on national registry data, this study confirms earlier reports of increased neonatal morbidity and incidence of congenital malformations in congenital hypothyroidism. The study further provides important data on significantly increased cumulative incidences of hearing loss, neurodevelopmental problems, and intellectual disabilities in patients until the age of 20 years. This work demonstrates the importance of regular screening for hearing loss and neurocognitive deficits in patients with congenital hypothyroidism as recommended in the guidelines.

Reference: 1. Subtle health impairment and socioeducational attainment in young adult patients with congenital hypothyroidism diagnosed by neonatal screening: a longitudinal population-based cohort study.Léger J, Ecosse E, Roussey M, Lanoë JL, Larroque B; French Congenital Hypothyroidism Study Group. Subtle health impairment and socioeducational attainment in young adult patients with congenital hypothyroidism diagnosed by neonatal screening: a longitudinal population-based cohort study. J Clin Endocrinol Metab. 2011 Jun;96(6):1771–1782. doi: 10.1210/jc.2010-2315. Epub 2011 Mar 9. PMID: 21389139.