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Unusual abnormal X chromosome in hyperthyroidism and Turner's syndrome.

Abstract

The concurrence of thyroiditis and Turner's syndrome was first described in 1961 by Engel and Forbes.1 Since then, several additional reports have detailed clinical and cytogenetic studies in patients with Turner's syndrome and thyroid diseases, particularly Hashimoto's thyroiditis. The possible mechanisms of the relationship of the two diseases have been postulated and discussed.2-6 The most frequently reported thyroid disease associated with Turner's syndrome is Hashimoto's thyroiditis. Other thyroid diseases have been reported.2-4,7-9 Explanations of the relationship of these two distinct diseases employing theories of autoimmune mechanism and chromosomal aberration have been attempted.

Although there have been several reports of Hashimoto's thyroiditis associated with Turner's syndrome, only one case of associated hyperthyroidism has been reported.4 In this study a patient with typical Turner's syndrome complicated by severe hyperthyroidism is described. The spectrum of thyroid diseases occurring in Turner's syndrome is reviewed and the possible pathogenesis discussed.

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