Abstract • We investigated the thyroid function of 151 patients with Down syndrome. Compared with a control group of 89 siblings nearest in age to their brother or sister with Down syndrome, the mean thyroid-stimulating hormone (TSH) value was significantly higher in patients with Down syndrome than in subjects without Down syndrome. However, the mean thyroxine (T4) levels in both groups were nearly the same. In the Down syndrome group there was a trend for TSH values to increase and for T4 values to decrease with advancing age. Of the 151 patients with Down syndrome, ten had both significantly elevated TSH levels (≥9.5 μU/mL) and significantly decreased T4 levels (≤5.5 μg/dL), 21 had only abnormally high TSH values, seven had only markedly Increased T4 levels (≥12.0 μg/dL), and three had only significantly decreased T4 levels. The intellectual function of patients with both abnormal TSH and T4 levels was significantly lower (mean IQ, 41.7) than that of Down syndrome patients with only increased TSH values (mean IQ, 53.8) and that of Down syndrome patients with normal thyroid function (mean IQ, 55.3). This study provides further evidence that there is an increased prevalence of thyroid dysfunction In patients with Down syndrome. (AJDC 1985;139:636-639) References 1. Pueschel SM, Rynders J: Down Syndrome: Advances in Biomedicine and the Behavioral Sciences . Cambridge, Mass, Ware Press Inc, 1982, pp 243-246. 2. Benda CE: Mongolism and Cretinism . New York, Grune & Stratton Inc, 1964. 3. McGirr EM, Murray IPC: Thyrotoxicosis in a Mongol . J Clin Endocrinol Metabol 1956;16: 160-163.Crossref 4. Esen FM, Mautner H: Hypo- and hyperthyroidism in mongolism . Arch Pediatr 1957;74:291-298. 5. Diggle JH, Weetch MB: Thyrotoxicosis in a Mongol . J R Soc Med 1958;51:293-294. 6. 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Hayles A, Hinrichs WL, Tauze WN: Thyroid disease among children with Down's syndrome (mongolism) . Pediatrics 1965;36:608-623. 15. Hollingsworth DR, McKean HE, Roeckel I: Goiter, immunological observations, and thyroid function tests in Down syndrome . AJDC 1974;127:524-527. 16. Baxter RG, Martin FIR, Myles K, et al: Down syndrome and thyroid function in adults . Lancet 1975;2:794-796.Crossref 17. Davis RH, Pitkow HS, Hill HG: Down syndrome and thyroid function . Lancet 1975;2: 1308.Crossref 18. Sare Z, Ruvalcaba RH, Kelley VC: Prevalence of thyroid disorder in Down syndrome . Clin Genet 1978;14:154-158.Crossref 19. Breg WR: Down syndrome: A review of recent progress in research . Pathobiol Annu 1977;7:257-303. 20. Fort P, Lifshitz F, Bellisario R, et al: Abnormalities of thyroid function in infants with Down syndrome . J Pediatr 1984;104:545-549.Crossref 21. Daniels DM, Simon JL: Down's syndrome, hypothyroidism, and diabetes mellitus . J Pediatr 1968;72:697-699.Crossref 22. Parkin JM: Down's syndrome, hypothyroidism, and diabetes mellitus . Br Med J 1974;2: 384.Crossref 23. Hubble D: Precocious menstruation in a mongoloid child with hypothyroidism–hormonal overlap . J Clin Endocrinol Metabol 1963;23: 1302-1305.Crossref 24. Floret D, Thomas A, Claustrat B, et al: Trisomy 21, myxedema due to thyroiditis with precocious puberty involvement: Study of gonadotropins and prolactin secretions . Pediatric 1978;33:189-200. 25. Vanhaelst L, Hayez F, Bonnyns M, et al: Thyroid pathology and chromosome disorders . Ann Endocrinol 1969;30:659-667. 26. Vaccaro R, Bossoni R: On the association of mongolism with thyroid autoimmunity . Minerva Pediatr 1971;23:252-257. 27. Fialkow PJ: Thyroid immunity and Down's syndrome . Ann NY Acad Sci 1970;171:500-511.Crossref 28. Chopra IJ, Solomon DH, Ho RS: A radioimmunoassay of thyroxine . J Clin Endocrinol Metabol 1971;33:865-868.Crossref 29. Hall R, Amos J, Ormston B: Radioimmunoassay of human serum thyrotropin . 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American Journal of Diseases of Children – American Medical Association
Published: Jun 1, 1985
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