目的:分析46,XX睾丸型性腺发育异常患者的遗传和临床资料,为加深对该疾病的认识提供依据.方法:收集2017年1月至2023年1月在南京医科大学第一附属医院生殖中心被诊断为46,XX睾丸型性腺发育异常的患者资料,分析其遗传学和临床资料特征,并对SRY阳性患者取外周血进行SRY基因染色体定位分析.结果:①共26例患者被纳入研究,所有患者染色体核型均为46,XX,且AZFa、b、c区全部缺失.患者身高为(168.3± 5.9)cm,体重为(64.0±7.5)kg,BMI 为(22.66±2.79)kg/m2,左侧睾丸体积(2.53±1.16)ml,右侧睾丸体积:(2.74±1.34)ml.精液量为 1.35(0.18～2.78)ml,FSH(36.85±18.01)IU/L,LH(19.71±9.71)IU/L,T(6.08±2.71)nmol/L.3例患者最高学历是大学本科,其余均为本科以下学历.②SRY阳性患者20例,SRY阴性患者6例.与SRY阳性患者相比,SRY阴性患者合并有生殖系统发育异常问题概率较高(5/6 vs 3/20,P=0.004),而两组在身高、体重、BMI、生殖激素,睾丸体积等参数差异均无统计学意义.③14例SRY基因定位分析显示:13例定位于Xp末端,1例定位于15p末端.结论:46,XX睾丸型性腺发育异常患者在遗传学和临床特征上呈现出一定相似性和异质性,需要寻求更好的方案提高患者的生活质量和生活满意度.
Genetic and clinical characteristics of 46,XX testicular disorders of sex development
Objective:To investigate the genetic and clinical characteristics of 46,XX testicular disorders of sex development(DSD).Methods:We collected the clinical data on the patients with 46,XX testicular DSD diagnosed in the Center of Reproductive Medicine of the First Affiliated Hospital of Nanjing Medical University from January 2017 to January 2023,and analyzed their genetic and clinical characteristics and the SRY gene chromosomal location for those with SRY-positive.Results:A total of 26 patients were included in this study,all with 46,XX and deletion of the AZFa,b and c regions,with a mean height of(168.3±5.9)cm,body weight of(64.0±7.5)kg,BMI of(22.66±2.79)kg/m2,left testis volume of(2.53±1.16)ml and right testis volume of(2.74 ±1.34)ml.The semen volume of the patients averaged 1.35(0.18-2.78)ml,FSH(36.85±18.01)IU/L,LH(19.71± 9.71)IU/L,and T(6.08±2.71)nmol/L.The SRY-negative patients had a higher incidence rate of development disorders in the re-productive system than the SRY-positive ones(5/6 vs 3/20,P=0.004),but no statistically significant differences were observed in the other parameters.The SRY gene was localized at the end of Xp in 13 of the 14SRY-positive cases,and at chromosome 15 in the other 1.Conclusion:46,XX testicular DSD has some similarity and heterogeneity in genetics and clinical characteristics.
46,XX testicular disorders of sex developmentSRY genefluorescence in situ hybridizationmale infertility
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