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46,XX男性综合征的染色体核型46,XX,存在睾丸,无任何女性生殖器官,多数病例有正常男性外生殖器,少数可有外生殖器畸形,是一种少见的性染色体异常疾病。国内仅蔡、孟二氏各报告1例,但均属外生殖器发育正常之成年病例。有关存在外生殖器畸形的46,XX男性综合征的儿童病例,国内尚未见有报道。现将我们所见的2例报道如下。病例1:住院号106422,男性5岁,1982年7月因尿道下裂Ⅲ型入院作尿道整形术。入院时,全身
46, XX male syndrome chromosome karyotype 46, XX, the presence of testicles, without any female genital organs, most cases of normal male genitalia, a few may have external genital malformations, is a rare sex chromosome abnormalities. Only domestic Cai, Meng two reports of each one, but are normal adult genitalia adult cases. There are no reports of children in China with male genital malformations 46 and XX who have syndrome of external genitalia. Now we see the two cases reported below. Case 1: The hospitalization number is 106422, and the male is 5 years old. In July 1982, urethral plastic surgery was performed because of type III hypospadias. At admission, the whole body