Abstract
A case of a 17-year-old female with Turner’s syndrome and Graves’ disease is reported. The karyotype analyzed in peripheral blood lyrfiphocytes showed a 45,X0 pattern without mosaicism. The diagnosis of Graves’ disease was based on the presence of diffuse goiter and appropriate laboratory data, including elevated thyroid radioiodine uptake, increased serum thyroxine and free thyroxine index, detectable thyroid-stimulating antibody and elevated thyroid microsomal antibody titer. Hyperthyroidism was first recognized when the patient was 13-year-old and treatment with carbimazole was instituted for 18 months. Relapse of hyperthyroidism occurred 9 months after withdrawal of therapy, and a second course of antithyroid drug treatment was given for two yr. Ovarian dysgenesis has been described with a relatively high frequency in patients with Hashimoto’s thyroiditis, while the association with Graves’ disease has been only occasionally encountered. This finding is surprising in view of the etiopathogenetic and genetic relationships between these two thyroid autoimmune disorders. Some possible explanations are offered to clarify this problem.
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References
Engel E., Forbes A.P. An abnormal medium-sized metacentric chromosome in a woman with primary gonadal failure. Lancet 2: 1004, 1961.
Grumbach M.M., Morishima A. X-chromosome abnormalities in gonadal dysgenesis. J. Pediatr. 65: 1087, 1964.
Williams E.D., Engel E., Forbes A.P. Thyroiditis and gonadal dysgenesis. N. Engl. J. Med. 270: 805, 1964.
Sparkes R.S., Motulsky A.G. The Turner syndrofge with isochromosome X and Hashimoto’s thyroiditis. Ann. Intern. Med. 67: 132, 1967.
Hamilton C.R., Moldawer M., Rosenberg H.S. Hashimoto’s thyroiditis and Turner’s syndrome. Arch. Intern. Med. 122: 69, 1968.
Melin K., Samuelson G. Gonadal dysgenesis with lymphocytic thyroiditis and deletion of the long arm of the X chromosome. Acta Pediatr. Scand. 58: 625, 1969.
Engel E., Northcutt R.C., Bunting K.W. Diabetes and hypothyroidism with thyroid autoantibodies in a patient with a long arm X-isochromosome. J. Clin. Endocrinol. Metab. 29: 130, 1969.
McHardy-Young S., Doniach D., Polani P.E. Thyroid function in Turner’s syndrome and allied conditions. Lancet 2: 1161, 1970.
Pai G.S., Leach D.C., Weiss L., Wolf C., Van Dyke D.L Thyroid abnormalities in 20 children with Turner syndrome. J. Pediatr. 91: 267, 1977.
Rimoin D.L., Schimke R.N. Genetic disorders of the endocrine glands. C.V. Mosby, St. Louis, 1971.
Menzinger G., Fallucca R., Andreani D. Gonadal dysgenesis and diabetes. Lancet 1: 1269, 1966.
Forbes A.P., Engel E. The high incidence of diabetes mellitus in 41 patients with gonadal dysgenesis, and their close relatives. Metabolism 12: 428, 1963.
Pinchera A., Fenzi G.F. Endrocrine autoimmune diseases. In: DeGroot L.J. (Ed.), Endocrinology. Grune and Stratton, New York, 1979, vol. 3, p. 2063.
Chang J.C., Burkle J.S. Unusual X chromosome in hyperthyroidism and Turner’s syndrome. NY State J. Med. 73: 1101, 1973.
Brooks W.H., Meek J.C., Schimke R.N. Gonadal dysgenesis with Graves’ disease. J. Med. Genet. 14: 128, 1977.
Kawai K., Kondo I., Terasaki T., Ogata E. A case of Turner’s syndrome with hyperthyroidism. Endocrinol. Jpn. 25: 631, 1978.
Carayon P., Macchia E., Fenzi G.F., Pinchera A., Lissitzky S. Agonism and antagonism of immunoglobulins from Graves’ disease patients on TSH-stimulated thyroid adenylate-cyclase. In: Pinchera A., Doniach D., Fenzi G.F., Baschieri L. (Eds.), Autoimmune aspects of endocrine disorders. Academic Press, New York, 1980, p. 167.
Frey H.M., Hoffman D.L Gonadal dysgenesis associated with hypothyroidism. Proc. Staff-. Meet. Mayo Clin. 34: 442, 1959.
Montes J.C. Turner’s syndrome with anovarism-case report. J. Clin. Endocrinol. Metab. 12: 947, 1952.
De la Chapelle A. Cytogenetical and clinical observations in female gonadal dysgenesis. Acta Endocrinol. (Kbh.) (Suppl.) 65: 1, 1962.
Vallotton M.B., Forbes A.P. Autoimmunity in gonadal dysgenesis and Klinefelter’s syndrome. Lancet 1: 648, 1967.
Doniach D., Roitt I.M., Polani P.E. Thyroid antibodies and sex-chromosome abnormalities. Proc. R. Soc. Med. 67: 268, 1968.
Fialkow P.J., Uchida I.A. Autoantibodies in Down’s syndrome and gonadal dysgenesis. Ann. N.Y. Acad. Sci. 155: 759, 1968.
Senhauser D.A. Immune pathologic correlations in thyroid disease. In: Hazard J.B., Smith D.E. (Eds.), The thyroid. Williams and Wilkins, Baltimore, 1964, p. 167.
DeGroot L.J., Stanbury J.B. The thyroid and its diseases, ed. 4. Wiley Biomedical, New York, 1975, p. 613.
Furszyfer J., Kurland L.T., McCohaney W.M., Woolner L.B., Elveback L.R. Epidemiologic aspects of Hashimoto’s thyroiditis and Graves’ disease in Rochester, Minnesota (1935–1967), with special reference to temporal trends. Metabolism 21: 197, 1972.
Burgio G.R., Severi F., Rossini R., Vaccaro R. Autoantibodies in Down’s syndrome. Lancet 1: 497, 1966.
Vanhaelst L., Hayez F., Bonnyns M., Bastenie P.A. Thyroid auto-immune disease and thyroid function in families of subjects with Down’s syndrome. J. Clin. Endocrinol. Metab. 30: 792, 1970.
Chaves-Carballd E., Hayles A.B. Ullrich-Turner syndrome in the male: review of the literature and report of a case with lymphocytic (Hashimoto’s) thyroiditis. Mayo Clin. Proc. 41: 843, 1966.
Vesterhus P., Aarskog D. Noonan’s syndrome and autoimmune thyroiditis. J. Pediatr. 83: 237, 1973.
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Marcocci, C., Bartalena, L., Martino, E. et al. Graves’ disease and Turner’s syndrome. J Endocrinol Invest 3, 429–431 (1980). https://doi.org/10.1007/BF03349383
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DOI: https://doi.org/10.1007/BF03349383