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Thyroid Function in Adults with Down's Syndrome

Lennox Castle Hospital and Departments of Materia Medica and Pathological Biochemistry, University of Glasgow Scotland

Correspondence to: Dr. J. G. Ratcliffe, Radioimmunoassay Unit, Stobhill General Hospital, Glasgow, G21 3UW.

The thyroid status of 82 institutionalized adults with Down's syndrome has been assessed. Compared to age and sex matched control subjects, these patients had significantly lower mean total serum thyroxine (T₄) and triiodothyronine (T₃) concentrations (T₄; 69.1 ± 22.2 nmol/1; (mean ± SD) vs. 100.1 ± 19.1, P < 0.001: T₃; 1.61 ± 0.47 nmol/1 vs. 1.76 ± 0.34, P < 0.025), lower free thyroxine index (FTI), (FTI; 66.1 ± 22.4 vs. 95.1 ± 20.2, P < 0.001), and higher basal serum thyrotrophin (TSH) concentrations (TSH; 7.6 ± 10.7 mU/1 vs. 3.8 ± 1.5, P < 0.001). These changes were not related to age or sex.

Abnormalities in one or more test of thyroid function were demonstrated in at least 38 (46%) of the 82 patients. Two main patterns of abnormality were defined: 1) subnormal T₄, FTI and elevated basal TSH levels (primary hypothyroidism) in 13 (16%). All seven of the 13 patients in whom TRH tests were performed showed the expected exaggerated TSH response, and seven out of the 13 patients (54%) had positive thyroid antibodies, 2) Subnormal T₄ subnormal or low normal FTI, and basal TSH levels within the normal range in 18 (22%). The mean basal TSH concentration was, however, significantly higher than in patients with normal T₄ and FTI levels, suggesting a minor degree of thyroid failure. Only two of the 18 patients (11%) had positive thyroid antibodies. Of the 17 patients in the group tested, 13 showed a normal TSH response to TRH, three an exaggerated response (all females), and one had an impaired response. Other patterns of abnormal thyroid function were observed occasionally: one female patient had biochemical T₃ toxicosis, another had the biochemical pattern of subclinical hypothyroidism, four patients with normal basal T₄, FTI and TSH levels showed an exaggerated TSH response to TRH and one patient had an impaired response.

These data indicate that thyroid dysfunction, in particular hypothyroidism, is common in adults with Down's syndrome, though specific tests are usually required to make the diagnosis. The general reduction in thyroid function in Down's syndrome may be due to impaired development of the thyroid gland. However, frank chemical hypothyroidism may occur only when thyroiditis is superimposed on preexisting diminished thyroid reserve.

Received April 14, 1976.

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