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目的 :探讨具有 Y染色体性分化异常患者的诊断和治疗。方法 :分析 47例具有 Y染色体“女性”患者的临床资料。结果 :以染色体核型、性腺与性激素为基础分为三组 :1雄激素不敏感综合征 30例。 2 XY单纯性性腺发育不全 1 2例。这两组的核型为 46 ,XY。 3XO/XY性腺发育不全 5例 ,核型为 45 ,XO/4 6 ,XY。结论 :具有 Y染色体“女性”患者并非罕见 ,临床特征、染色体核型分析、性腺病理检查和性激素测定是主要诊断手段。早期诊断和适时治疗有益于患者身心健康。
Objective: To investigate the diagnosis and treatment of patients with Y chromosome abnormalities. Methods: Clinical data of 47 patients with Y chromosome “female” were analyzed. Results: Based on the karyotype, gonadal and sex hormones, there were three groups: 1 androgen insensitivity syndrome in 30 cases. 2 XY simple gonadal insufficiency in 12 cases. Karyotypes for both groups were 46, XY. 5 cases of 3XO / XY gonadal dysplasia, Karyotype 45, XO / 46, XY. CONCLUSIONS: It is not uncommon for women with Y chromosome to have clinical features, chromosomal karyotype analysis, gonadopathological examination and sex hormone test as the main diagnostic tools. Early diagnosis and timely treatment is beneficial to patients’ physical and mental health.