Endocrine Abstracts (2008) 17 P29

Outcome in Scottish adults with permanent congenital hypothyroidism born between 1979 and 1991

J Jones1, D Young2, A Robertson1 & M Donaldson1

1Royal Hospital for Sick Children, Glasgow, UK; 2University of Strathclyde, Glasgow, UK.

Introduction: Despite extensive research into IQ scores in congenital hypothyroidism (CH) during childhood there is little information on adult outcome in terms of pragmatic measures such as educational achievement, employment, residency and relationships.

Patients and methods: We present the results of a questionnaire-based study examining these outcome measures in Scottish adults with permanent CH born between 1979 and 1991. The unaffected siblings of our patients served as controls, to counter socio-economic confounders. Matched patient and sibling pairs were compared. Validated systems were used to score education and employment data. Where possible, responses were compared with population normative data.

Results: Of 189 eligible patients, 90 have returned questionnaires to date, together with 38 sibling controls. Median (range) age and sex ratio (M:F) of patients and siblings was 21 (16–28) and 21 (15–35) years and 1:3.2 and 1:0.9 respectively. Median (range) overall education score was 288 (0–1152) and 312 (0–984) for patients and siblings respectively (P=0.3) and for age-adjusted, paired patients and siblings 192 (0–336) and 192 (0–330) respectively (P=0.9). Comparison of median (range) education scores in severe CH at diagnosis (total T4 <43.0 nmol/l) with milder cases showed similar scores – 312 (0–1036) versus 306 (0–1152) respectively (P=0.7). Employment groupings (% of patients, siblings, population norm respectively) were: managers and senior officials (0, 4, 13); professionals (6, 14, 12); associate professional/technical (14, 25, 14); admin and secretarial (16, 11, 12.5); skilled trades (6, 11, 11); service sector (6, 0, 8.5); sales and customer service (27, 25, 9); process and machine operators (5, 0, 8) and elementary jobs (20, 11, 12). In terms of relationships 49% of both patients and siblings described themselves as single. 63% of patients had not yet left the parental home compared with 47% of siblings.

Conclusion: We have been unable to find a difference between patients with permanent CH and their siblings in terms of educational or relationship outcomes, or between severely affected patients compared with mildly affected patients. Further analysis is required to examine if subtle neuro-cognitive deficits in CH affect patients’ prospects for employment and independent residency or whether our findings are due to the youth of our groups and/or the female preponderance in CH.

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