| 姚红,侯梦,王培,等.46,XX男性DSD一例并文献复习[J].安徽医药,待发表. |
| 46,XX男性DSD一例并文献复习 |
|
| 投稿时间：2025-10-13 录用日期：2025-10-28 |
| DOI： |
| 中文关键词: 性发育异常 46,XX SRY基因 高促性腺激素性性腺功能减退 |
| 英文关键词: |
| 基金项目: |
|
| 摘要点击次数: 78 |
| 全文下载次数: 0 |
| 中文摘要: |
| 【】 目的 探讨SRY基因异位导致的46,XX男性性发育异常(Disorders of Sex Development, DSD)的临床和遗传学特征,提高临床对该罕见病的认识。方法 分析1例因“阴茎及睾丸增大伴阴毛生长,偶发阴茎勃起半年”就诊,染色体核型为46,XX,但社会性别及表型均为男性的DSD患者的临床表现、内分泌指标、影像学检查及遗传学检测结果的矛盾点和诊疗思路,并复习相关文献。结果 患者表现为男性表型,查体阴茎发育可,相对小睾丸,辅助检查提示促性腺激素水平偏高,相对低睾酮,性征发育与激素水平不符,及时进行染色体G显带核型分析显示,X染色体末端存在Y染色体短臂的异源片段,进一步基因检测证实该片段包含SRY基因,无AZF区。诊断为46,XX睾丸型DSD(SRY阳性,AZF缺失),治疗上给予心理干预,必要时睾酮替代治疗,建议生殖咨询。结论 46,XX男性DSD是一种罕见的性发育异常疾病,多因SRY基因易位至X染色体或常染色体所致。临床遇到外生殖器发育水平与性激素水平不一致的情况时,应考虑此类疾病的可能,并进行染色体核型及SRY基因检测以明确诊断。多学科协作管理对于改善患者心理和预后至关重要。 |
| 英文摘要: |
| 【】Objective To explore the clinical and genetic characteristics of 46,XX male disorder of sex development (DSD) caused by SRY gene translocation, and to enhance clinical understanding of this rare condition. Methods We analyzed a case of a DSD patient with a 46,XX karyotype but male social gender and phenotype, who presented with "enlarged penis and testes, pubic hair growth, and occasional penile erection for six months." The contradictions in clinical manifestations, endocrine profiles, imaging findings, and genetic test results were examined, along with the diagnostic and therapeutic approach. A review of relevant literature was also conducted. Results The patient exhibited a male phenotype, with well-developed penis and relatively small testes on physical examination. Laboratory tests revealed elevated gonadotropin levels and relatively low testosterone, indicating discordance between sexual development and hormone levels. Timely chromosomal G-banding analysis identified a heterologous segment of the Y chromosome short arm at the terminus of the X chromosome. Further genetic testing confirmed the presence of the SRY gene within this segment, with absence of the AZF region. The diagnosis was 46,XX testicular DSD (SRY-positive, AZF-deficient). Management included psychological intervention, testosterone replacement therapy when necessary, and recommendations for fertility counseling. Conclusion 46,XX male DSD is a rare disorder of sex development, often resulting from translocation of the SRY gene to the X chromosome or an autosome. In cases where genital development is inconsistent with sex hormone levels, the possibility of such disorders should be considered, and chromosomal karyotyping along with SRY gene testing should be performed for definitive diagnosis. Multidisciplinary management is crucial for improving psychological well-being and prognosis. |
|
查看/发表评论 下载PDF阅读器 |
| 关闭 |
|
|
|
