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目的分析46,XX男性性反转综合征患者生殖临床表型及遗传学特征,探讨其发生机制及诊疗要点。方法分别对2例患者染色体核型、性别决定基因(SRY)及无精子因子(AZF)进行检测,获取遗传信息;同时进行精液、精浆生化分析、生殖激素及性腺发育检测获取相关的临床表型信息,并综合分析患者的遗传类型和临床表型。结果 2例患者社会性别均为男性,患者1第二性征明显,患者2第二性征模糊。精液检查均为无精子症,FSH、LH均上升,T及E2均下降。2例患者染色体核型均为46,XX型,AZF区检测显示AZF a、b、c区基因位点全部缺失,其中病例1 SRY基因存在,病例2 SRY基因缺失。结论 SRY基因检测可为性反转综合征患者的临床诊断及早期治疗提供依据;Y染色体AZF区检测可明确不育的原因,为不育的治疗提供依据。
Objective To analyze the clinical phenotype and genetic characteristics of 46 and XX masculine sexual inversion syndrome patients and to explore its mechanism and diagnosis and treatment. Methods The chromosomal karyotypes, SRY and AZF were detected in 2 patients, and the genetic information was obtained. At the same time, semen, seminal plasma biochemical analysis, reproductive hormones and gonadal development were detected to obtain the related clinical tables Type of information, and comprehensive analysis of the patient’s genetic type and clinical phenotype. Results The gender of two patients was male, the second characteristic of patient 1 was obvious, and the second characteristic of patient 2 was vague. Semen examination were azoospermia, FSH, LH increased, T and E2 decreased. The chromosomal karyotypes of the two cases were all of type 46 and XX. The detection of AZF showed that all the AZF a, b and c loci were deleted. The SRY gene was found in case 1 and the deletion of SRY gene in case 2. Conclusion The detection of SRY gene may provide a basis for clinical diagnosis and early treatment of patients with reversible syndrome. The detection of AZF in Y chromosome may clarify the cause of infertility and provide the basis for infertility treatment.