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Concominant Graves' disease and Turner's syndrome: case report

J-F Kuo, S-T Tu

Division of Endocrinology and Metabolism, Department of Medicine, Changhua Christian Hospital, Taiwan, R.O.C.

Patients with Turner's syndrome are at an increased risk of developing autoimmune thyroid disease, particularly if they are of the isochromosome-X karyotype. This increased thyroid autoimmunity is most often associated with hypothyroidism but also rarely with Graves¡¦ disease. We describe three cases with both Turner's syndrome and Graves' disease.

Case 1 is a 14-year-old woman with karyotype mosaicism of 45,X / 45,X,?del(X) (p11.2). She developed hyperthyroidism at 13 years of age and was diagnosed with Graves¡¦ diseases on the basis of diffuse goiter, suppressed serum TSH level, hyperthyroxinemia, elevated TSH binding inhibitory immunoglobulin (TBII) and anti-TPO titer. She was treated with propylthiouracil and propranolol.

Case 2 is a 21-year-old woman with karyotype of 45,X without mosaicism. Her diagnosis of Graves' disease was based on the presence of diffuse goiter, decreased serum TSH level, increased serum thyroxine level, elevated TBII and anti-TPO titer. She was treated with propylthiouracil and propranolol for 6 years, beginning at 9 years of age. Two doses of I-131 were then given, respectively at 16 and 18 years of age. Afterwards she became hypothyroid and required thyroxine supplement.

Case 3 is a 24-year-old woman who was diagnosed with Turner¡¦s syndrome (45,X) when she was 15 years old. She developed palpitation and began to lose weight at age 20 years. Propylthiouracil and propranolol were initially given after Graves¡¦ disease was confirmed, followed by radioiodine therapy. She became euthyroid afterwards.

Patients should be screened for autoimmune thyroid diseases via measurements of serum thyrotropin level and antithyroid antibodies upon the diagnosis of Turner¡¦s syndrome. Asymptomatic patients should have their thyroid function rechecked annually beginning at 10 years of age. Symptomatic patients should receive further evaluation and treatment.

From our experiences and reviews of the literature, Graves¡¦ hyperthyroidism occurring in Turner's syndrome responds poorly to treatment with antithyroid drugs alone. Early initiation of radioiodine therapy may possibly result in greater treatment satisfaction.