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患者男,28岁,主因“体重下降3年,发现血糖高伴性功能障碍1年”于2016年3月29日就诊入院。1年前因“龟头炎”就诊时发现血糖高,诊断为糖尿病,目前口服二甲双胍控制血糖。入院查体:身材瘦长,体重86.5 kg,身高185 cm,指尖距182.8 cm,皮肤白净细腻,无胡须,喉结不明显,阴毛腋毛稀疏,乳房发育,阴茎短小;两次精液常规检查均无法获得标本;彩超提示双侧睾丸体积偏小;化验检查促性腺激素高于正常而睾酮低于正常;染色体核型47XXY,诊断Klinefelter综合征(KS)合并T2DM。
Male patient, 28 years old, mainly due to “weight loss for 3 years, found that high blood glucose with sexual dysfunction 1 year ” on March 29, 2016 for admission. A year ago due to “Balanitis ” Visits found high blood sugar, the diagnosis of diabetes, oral glyforosate currently controlled oral. Admission examination: body length, body weight 86.5 kg, height 185 cm, fingertip distance 182.8 cm, the skin white and delicate, no beard, Adam’s apple is not obvious, pubic hair armpit sparse, breast development, short penis; routine sperm were not available Specimens; color Doppler ultrasound showed that the volume of bilateral testis is too small; laboratory test gonadotropin is higher than normal and testosterone is lower than normal; chromosome karyotype 47XXY, diagnosis of Klinefelter syndrome (KS) with T2DM.