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葛瑞夫茲氏病合併透納氏症:病例報告和文獻回顧

Concominant Graves' Disease and Turner's Syndrome: Case Report

摘要


自體免疫甲狀腺疾病(autoimmune thyroid disease)好發於透納氏症(Turner's syndrome)的患者,其中又以核型(karyotype)為X-isochomosome者最常見。臨床表現以甲狀腺功能低下為主,葛瑞夫茲氏病(Graves', disease)並不多見。在此提出3個合併透納氏症和葛瑞夫茲氏病的病例報告。個案1為一位14歲的女性,身材矮小,沒有月經,核型為45, X和45, X,? del(X)(p11.2)。13歲時出現脖子腫大、心悸、體重減輕、腹瀉等症狀。經內分泌功能檢查診斷為葛瑞夫茲氏病(TSH下降、T3和Free T4上升、甲狀腺微粒體抗體Anti-TPO和促甲狀腺素受器抗體TSH binding inhibitory immunoglobulin均為陽性)。投與propylthiotouracil、propranolol後症狀獲得緩解,甲狀腺功能也趨於正常。個案2為一位21歲的女性,13歲時沒有初經、身材矮小,染色體檢查顯示為45, X。8歲時被診斷為葛瑞夫茲氏病,因為在Propylthiouracil、propranolol治療下甲狀腺機能亢進症狀未獲得改善而投與兩次放射性碘治療。爾後出現甲狀腺機能低下,在門診接受甲狀腺素治療。個案3為一位24歲的女性,15歲時被診斷為透納氏症(核型為45, X),20歲時出現心悸、體重減輕等症狀。在診斷為葛瑞夫茲氏病後投與propylthiouracil、propranolol,並給與放射性碘治療,而後症狀獲得緩解,甲狀腺功能也趨於正常。 透納氏症應該在確定診斷時即檢查甲狀腺功能和有無甲狀腺抗體,沒有症狀的患者應從10歲起每無追蹤一次甲狀腺功能檢查,有症狀者應馬上作進一步的確認和治療(上標 [1,2])。彙集本文和以往的個案報告發現,合併透納氏症的葛瑞夫茲氏病單靠藥物治療的效果不盡理想。在這一類的患者,是否考慮積極投與放射性碘治療來改善患者的生活品質,仍需更多的臨床觀察。

並列摘要


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 experience and review of the literature, Graves' hyperthyroidism occurring in Turner's syndrome responded poorly to treatment with antithyroid drugs alone. Early initiation of radioiodine therapy might possibly result in greater treatment satisfaction.

並列關鍵字

Turner's syndrome Graves' disease

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