Background

Swyer syndrome is a difference of sex development that is typically associated with mutations in genes responsible for testicular development. It is speculated that some cases may result from cryptic 45,X/46,XY mosaicism leading to abnormal gonadal development. The presence or absence of a 45,X lineage is important for prognosis and management.

Case

We present a case of apparent Swyer syndrome associated with a 46,XY chromosomal complement in lymphocytes and 45,X/46,XY mosaicism on analysis of her noncancerous gonad. Gonadal histology was consistent with a 45,X phenotype.

Summary and Conclusion

This case demonstrates the clinical variability in the presentation of 45,X/46,XY mosaicism and highlights the importance of thorough genetic testing that includes consideration of chromosomal mosaicism. We will discuss the implications of this diagnosis for management.

中文翻译：

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一例45，X / 46，XY马赛克表现为Swyer综合征。

背景

Swyer综合征是性别发展的差异，通常与负责睾丸发育的基因突变有关。据推测，某些情况可能是由隐含的45，X / 46，XY镶嵌症导致异常性腺发育引起的。是否存在45，X谱系对于预后和治疗很重要。

案件

我们对她的非癌性腺进行分析后，发现一例明显的Swyer综合征，与淋巴细胞中的46，XY染色体补体和45，X / 46，XY镶嵌有关。性腺组织学与45，X表型一致。

总结与结论

该病例证明了45，X / 46，XY镶嵌症的临床变异性，并强调了彻底的基因检测的重要性，其中包括对染色体镶嵌症的考虑。我们将讨论此诊断对管理的意义。