染色体核型45,XO/46,XY患者的临床特点和Y染色体异常

Clinical features and Y chromosomal abnormalities in patients with karyotype chimerism of 45, XO/46, XY

目的 对染色体核型45,XO/46,XY患者的临床特点和Y染色体异常进行总结分析,以提高对此病的认识和诊疗水平.方法 对确诊患者的临床表现、性激素水平、治疗和随访、外周血淋巴细胞核型分析和Y染色体异常进行详细描述和总结.结果 （1）在2008年1月至2013年1月期间,有7例确诊为45,XO/46,XY的患者在本科就诊.社会性别男性3例,女性4例;初诊年龄（14±3）岁（11 ～ 20岁）.（2）患者均为身材矮小,伴多种特纳综合征的体征.（3）完全男性外生殖器1例,尿道下裂2例,女性阴蒂增大伴阴道尿道共同开口1例,完全女性外阴3例;通过查体和超声检查,有3例患者存在睾丸,1例同时存在睾丸和卵巢样性腺,1例为卵巢样性腺,2例未发现性腺.（4）有4例患者Y染色体存在明显的异常,其中例1经多重PCR技术和多重连接探针扩增技术,证实存在AZFb和AZFc片段缺失.（5）有4例患者接受人重组生长激素（rhGH）治疗.例1行右侧隐睾牵引固定术,例4行腹腔镜探查,找到并切除性腺组织,病理可见卵巢样成分.有3例患者接受性激素替代治疗.结论 45,XO/46,XY患者,具有矮小和其他特纳综合征的体征;半数患者存在睾丸而出现不同程度男性化.Y染色体异常,可能是导致嵌合体发生和生精障碍的重要原因.应用rhGH有助于身高增加,切除隐睾和无功能性腺组织,可能降低将来的生殖细胞肿瘤风险.

Objective To increase the knowledge of clinical features and Y chromosomal abnormalities in patients with mosaic karyotype 45,XO/46,XY.Methods The clinical features,peripheral lymphocyte karyotype,sex hormones,treatment,and follow-up information were retrospectively reviewed.Results （1） 7 patients with 45,XO/46,XY were included.Their social gender was 3 male and 4 female,and the age by diagnosis was （14±3） years （range 11-20 years）.（2） Patients presented with short stature （n =7） and other specific somatic signs similar to Turner＆#39;s syndrome.（3） The external genitalia varied from complete male to complete female manifestations.There were normal penis （n =1）,hypospadia （n =2）,enlarged clitoris and combined opening with ureter and vagina （n =1）,and wholesome vagina opening （n =3）.By physical examination and ultrasound,testes were detected in 3 patients,1 patient had testes and ovary-like gonad,and 1 had ovary-like gonad,and no gonads were detected in 2 patients.（4） Among 7 patients,4 had obviously abnormal Y chromosome.1 patient had micro-deletion on Y chromosome by Multiplex Ligation Dependent Probe Amplification （MLPA）.（5） 4 patients had therapy with （rhGH）.Gonads were removed from P4,showing ovary-like tissue.3 patients received sex hormone replacement.Conclusion Patients with 45,XO/46,XY mosaic karyotype manifest short stature and other clinical features of Turner＆#39;s syndrome.The presence of testis may result in different extent of virilization.The mosaic karyotype and failure of spermatogenesis may be caused by abnormal Y chromosome.Treatment includes rhGH therapy,removal of dysgenic gonads and hormonal replacement.