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):1771-82. doi: 10.1210/jc.2010-2315. Epub 2011 Mar 9.


Context: Screening programs resulting in the early treatment of patients with congenital hypothyroidism (CH) have successfully improved neurodevelopmental outcome, but little is known about long-term health.

Objectives: The aim of the study was to assess health status, and socioeconomic attainment, for a population-based registry of young adult patients.

Design, setting, and participants: All 1748 eligible patients diagnosed during the first decade after the introduction of neonatal screening in France were invited to participate in this study at a median age of 23.4 yr. Completed questionnaires were obtained from 1202 of the selected patients. The comparison group included 5817 subjects from the last French Decennial Health Survey.

Main outcome measures: Health indicators including medical conditions, hearing and visual status, sociodemographic characteristics, and quality of life were measured.

Results: Patients with CH were significantly more likely than their peers to report associated chronic diseases (5.7 vs. 2.9%), hearing impairment (9.5 vs. 2.5%), visual problems (55.4 vs. 47.9%), and being overweight with a body mass index of at least 25 kg/m(2) (22.8 vs. 15.7%) (P < 0.0001). Furthermore, fewer patients attained the highest socioeconomic category (14.6 vs. 23.1%) and were in full-time employment (39.9 vs. 44.8%) (P < 0.0001). They were more likely to still be living with their parents and had a lower health-related quality of life than their healthy peers, particularly for mental dimensions, with a mean difference for the mental summary component of 0.35 SD score (P < 0.0001). CH severity at diagnosis, treatment adequacy, and the presence of other chronic health conditions were the main determinants of educational achievement and health-related quality of life scores.

Conclusion: These findings highlight the need for careful monitoring of neurosensory functioning, weight, and long-term treatment adequacy throughout childhood and adulthood.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Congenital Hypothyroidism / diagnosis*
  • Congenital Hypothyroidism / physiopathology
  • Congenital Hypothyroidism / psychology*
  • Educational Status
  • Female
  • France
  • Health Status*
  • Health Surveys
  • Humans
  • Infant, Newborn
  • Longitudinal Studies
  • Male
  • Neonatal Screening
  • Quality of Life / psychology*
  • Registries
  • Social Class
  • Surveys and Questionnaires