466例Klinefelter综合征患者临床表型与遗传学分析

Clinical and cytogenetic analysis of 466 cases of Klinefelter syndrome

目的 探讨具有不同遗传学特征的Klinefelter综合征患者临床表型差异,以便对患者的发育预后、治疗和生育指导提供遗传咨询。方法 对经外周血染色体核型分析确诊的466例Klinefelter综合征患者进行总结和遗传学分析。结果 检出445例47,XXY的患者,这部分患者主要表现为男性性腺功能减退、小睾丸、不育;9例47,XXY伴有其他染色体异常的患者和5例46,XY/47,XXY嵌合体患者,临床表现为无精、睾丸发育不良;5例46,XX/47,XXY嵌合体的患者,临床表现为无精、性发育异常;另外研究还检出了1例48,XXYY核型和1例49,XXXXY核型的患者,这两例患者除了性发育不良外,还有伴有智力低下、生长发育迟缓和其他症状。结论 Klinefelter综合征患者的染色体核型对Klinefelter综合征患者的临床表现有决定作用,提高对KS的认知有助于我们对该病进行尽早的诊断、治疗和遗传咨询。

Objective To investigate the difference of clinical phenotypes of Klinefelter's syndrome patients with different genetic characteristics,with the aim to provide genetic counseling to the patients in long-term prognosis,early diagnosis and procreation guidance.Methods Genetic analysis was carried out for the 466 patients with KS verified by chromosome karyotype,and the characteristics and abnormalities were further summarized.Results 445 cases with 47,XXY were detected in total,who were characteristic of male hypogonadism,small testes and infertility.9 cases with 47,XXY and other autosomal chromosomal abnormalities and 5 cases with mosaicism(46,XY/47,XXY)clinically exhibited azoospermia and testicular dysplasia,and 5 cases with mosaicism(46,XX/47,XXY)clinically showed azoospermia and sexual abnormality.In addition,1 case with 48,XXYY and 1 case with 49,XXXXY were verified to be featured with sexual abnormality,mental retardation,and growth retardation.Conclusion The chromosomal karyotype plays a decisive role in the clinical phenotypes of the patients with Klinefelter syndrome.Therefore,improving the knowledge of KS can help us to make early diagnosis,treatment and genetic counseling for this disease.