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目的:探讨小儿性别畸形的特点、诊断及治疗。方法:通过性染色体、尿17-羟类固醇及17-酮类固醇、选择性尿道或尿生殖窦造影、性腺活检,对1984～1995年收治37例性别畸形病例回顾性分析。结果:37例分成四类:女性假两性畸形17例、男性假两性畸形13例、真两性畸形3例、混合性腺发育不全2例。另有 Turner 综合征1例、Klinefelter 综合征1例。结论:不能单凭外生殖器的形态或性染色体来诊断性别畸形;早期诊断、早期治疗具有重要意义。
Objective: To investigate the characteristics, diagnosis and treatment of gender malformation in children. Methods: A retrospective analysis of 37 cases of genital malformations admitted from 1984 to 1995 by sex chromosomes, urinary 17-hydroxysteroid and 17-keto steroids, selective urethral or urogenital sinusography, and gonad biopsies was performed. Results: 37 cases were divided into four categories: 17 cases of female bisexual deformity, 13 cases of male bisexual deformity, 3 cases of true hermaphroditism and 2 cases of mixed gonadal dysgenesis. Another Turner syndrome in 1 case, Klinefelter syndrome in 1 case. Conclusion: The genital abnormalities can not be diagnosed simply by the morphology or sex chromosome of genitalia. Early diagnosis and early treatment are of great significance.