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克氏综合征是男性不育最常见的病因之一。48,XX YY核型是克氏综合征的一种变型,现将本室发现1例报告如下。患者,男性,未婚。因要求检查有无生育能力前来诊治。患者幼儿时比同龄儿迟钝。学习成绩差。父母非近亲婚配。母亲表型正常,但核型未做(不愿意抽血),其父已病故。家族中无类似病史。体检:身高175cm,反应迟钝,智力较差,全身皮下脂肪丰满。口齿欠清楚,能合作。眼距宽、鼻塌、双耳较大、腭弓高。外生殖器为正常男性。仅少量稀疏胡须、腋毛、阴毛。两侧睾丸发育不良,质地硬,大小为1×1.4×1cm,阴茎可勃起,不能射精。细胞遗传学检查:常规外周血淋巴细胞培养,染色体经G、C带及X小体检测,证实患者核型为48,XX YY。
Klinefelter’s syndrome is one of the most common causes of male infertility. 48, XX YY karyotype is a variant of Klinefelter syndrome, now this room found in 1 case reported as follows. Patient, male, unmarried. Because of the request to check whether fertility came to diagnosis and treatment. Childhood children than their peers dull. Poor academic performance. Parents non-relatives marriage. Mother phenotype normal, but the karyotype did not do (do not want to draw blood), the father has died. No similar family history. Physical examination: height 175cm, unresponsive, poor intelligence, systemic subcutaneous fat plump. Mouth is not clear, can cooperate. Eye wide, nasal collapse, ears larger, high palatal arch. External genital normal male. Only a small amount of sparse beard, armpit hair, pubic hair. Both sides of testicular dysplasia, hard texture, the size of 1 × 1.4 × 1cm, the penis can erect, can not ejaculate. Cytogenetic examination: conventional peripheral blood lymphocyte culture, chromosome G, C band and X body detection, confirmed the patient karyotype 48, XX YY.