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Chin Med J (Engl). 2012 Mar;125(5):937-40.

A case of Klinefelter's syndrome with type 1 diabetes mellitus.

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  • 1Graduate School of Peking Union Medical College, Chinese Academy of Medical Sciences, and Department of Endocrinology, China-Japan Friendship Hospital, Beijing 100730, China.


Klinefelter’s syndrome (KS) is the most common sex chromosome disease in men. Classical features of the syndrome include a eunuchoidal body habitus, small testes and hypergonadotrophic hypogonadism. There has been an increased risk of diabetes mellitus and autoimmune disease for KS patients. This paper reports a case of KS in association with type 1 diabetes mellitus. The patient was a 21-year-old man, who has been confirmed by absolute insulin deficiency and positive IA-2 autoantibody. The hyperinsulinemic euglycemic clamp test indicated his insulin sensitivity in normal range, and his blood glucose was controlled well by the insulin therapy.

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