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自1980年9月至1981年3月在门诊发现男性间性5例,占遗传咨询门诊病例的14％,其主要特点是染色体为46,XY,性腺为睾丸组织。因睾丸发育不良的程度不同及靶器官对雄激素不敏感,可分为 XY 纯生殖腺发育不良及对雄激素不敏感综合症两类。两类均属遗传疾病,兹报告如下:临床资料:4例为女性表型,原发闭经、具有女性的内外生殖器官但均发育不良、无腋毛及阴毛稀少、乳房发育不良。末梢血染色体培养为46,XY。见下表:
From September 1980 to March 1981 in the clinic found that 5 cases of inter-male, accounting for genetic counseling outpatient cases of 14%, its main feature is the chromosome 46, XY, gonads testicular tissue. Due to different degrees of testicular dysplasia and the target organ is not sensitive to androgen, can be divided into XY pure gonadal dysplasia and androgen insensitivity syndrome in two categories. Two types are genetic diseases, are as follows: Clinical data: 4 cases of female phenotype, primary amenorrhea, with female genital and external reproductive organs but were poorly developed, no armpit hair and pubic hair sparse, breast dysplasia. Chromosome culture of peripheral blood was 46, XY. See the table below: