Tojo K, Kaguchi Y, Tokudome G, Kawamura T, Abe A, Sakai O
Second Department of Internal Medicine, Jikei University School of Medicine, Tokyo.
Intern Med. 1996 May;35(5):396-402. doi: 10.2169/internalmedicine.35.396.
We report here a rare case of 47 XXY/46 XY mosaic Klinefelter's syndrome associated with multiple endocrine disorders. A 35-year-old male admitted for the evaluation of renal dysfunction and recurrent bone fractures was diagnosed as having Klinefelter's syndrome by endocrinological examinations and sex chromosome analysis. He has suffered from diabetes mellitus for more than ten years. The serum FSH and LH levels were high together with low free testosterone and estradiol levels. There was a discrepancy between basal serum GH and somatomedin-C levels. On admission, thyroid function revealed thyrotoxicosis with low radioactive iodine uptake and negative thyroid autoantibodies. During hospitalization, serum FT3 and FT4 levels were gradually decreased and serum TSH levels became elevated, leading to the diagnosis of subacute thyroiditis. Serum ACTH levels showed high basal levels with delayed, exaggerated responses to insulin-induced hypoglycemia. Rapid ACTH test (1-24ACTH 0.25 mg) showed low cortisol responses and many of the adrenocortical steroids in plasma and urine were low or low normal. Furthermore, bone mineral density (BMD) by DEXA showed marked osteoporosis. Possible mechanisms underlying these varied endocrine disorders remain to be elucidated.
我们在此报告一例罕见的47 XXY/46 XY嵌合型克兰费尔特综合征，该患者伴有多种内分泌紊乱。一名35岁男性因肾功能不全和反复骨折入院评估，经内分泌检查和性染色体分析被诊断为克兰费尔特综合征。他患糖尿病已超过十年。血清促卵泡激素（FSH）和促黄体生成素（LH）水平升高，同时游离睾酮和雌二醇水平降低。基础血清生长激素（GH）和生长调节素-C水平存在差异。入院时，甲状腺功能显示甲状腺毒症，放射性碘摄取低且甲状腺自身抗体阴性。住院期间，血清游离三碘甲状腺原氨酸（FT3）和游离甲状腺素（FT4）水平逐渐下降，血清促甲状腺激素（TSH）水平升高，最终诊断为亚急性甲状腺炎。血清促肾上腺皮质激素（ACTH）基础水平高，对胰岛素诱导的低血糖反应延迟且过度。快速促肾上腺皮质激素试验（1-24ACTH 0.25毫克）显示皮质醇反应低，血浆和尿液中的许多肾上腺皮质类固醇水平低或接近正常低限。此外，双能X线吸收法（DEXA）测定的骨密度（BMD）显示明显骨质疏松。这些多种内分泌紊乱的潜在机制仍有待阐明。
