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目的 46,XX男性综合的临床表现及误诊原因分析,探讨男性性别决定及分子遗传学基础。方法分析一例46,XX男性综合征(SRY阳性)患者的临床表现及实验室、细胞及分子遗传学检查结果。结合文献复习分析其误诊原因及预防措施和治疗方案。结果患者社会性别男性,因乳房发育而就诊被误诊为特发性青春期乳腺发育;此后通过性激素检查而提示本病可能,最终靠染色体核型,FISH检查而确诊。结论 46,XX男性综合征临床表现具有异质性,可引起男性乳房发育,极易误诊,因此应对此类患者全面的体格检查和实验室检查,包括染色体检查。
Objective 46, XX male comprehensive clinical manifestations and misdiagnosis analysis to explore male sex determination and molecular genetics. Methods A case of 46, XX male syndrome (SRY positive) in patients with clinical manifestations and laboratory, cellular and molecular genetic test results. Combined with the literature review the causes of misdiagnosis and preventive measures and treatment options. Results The male gender of the patient was misdiagnosed as idiopathic adolescent mammary gland due to the development of the breast. After that, the sex hormone indicated the possibility of this disease and finally confirmed by chromosomal karyotype and FISH. Conclusion 46, XX male syndrome clinical manifestations of heterogeneity, can cause male breast development, easily misdiagnosed, so comprehensive physical examination and laboratory tests of such patients, including chromosome examination.