两性染色体嵌合型异常八例

目的总结分析X,Y两性染色体嵌合异常核型与临床关系。方法回顾性总结分析了8例具有两性核型嵌合,社会性别男性患者的核型及临床表现。结果5例儿童患者都表现有尿道下裂及隐睾,其中3例儿童患者经腹部手术探查发现同时存在有睾丸、输卵管、卵巢等两性生殖器官;3例成年患者则主要表现为婚后不育、睾丸及副性征发育不全。结论具有X,Y两性染色体嵌合异常核型的个体可能存在有男女两性生殖器官,通过手术探查可明确诊断其是否为真两性畸形。对于表现性发育不明确者,特别是儿童尿道下裂、隐睾者,染色体核型分析能为下一步治疗提供非常有益的科学依据。

Abnormal X and Y bisexual chromosome mosaic-8 case report

Objectives： To determine the relationship between abnormal karyotype of X and Y bisexual chromosome mosaic and the clinical manifestation. Methods： Eight socially male patients with bisexual karyotype were reviewed. The karyotype and clinical manifestations were analyzed. Results： Five cases （children） showed hypospadias and cryptorchidism, among whom 3 cases received ab- dominal exploration and testiculus, ovarian duct and ovaries were found. Three adults showed aciesis after marriage and agenesia, of testiculus and secondary sex characters. Conclusion： Individuals with abnormal bisexual chromosome mosaic karyotypes may have both female and male reproductive organs. Real androgyneity can be confirmed by abdominal exploration. For the children with uncertain sex development, especially of hypospadias and cryptorchidism, chromosome karyotype analysis can offer important theory for further treatment.