Ye Qing-Lin, Fang Jian-Zheng, Yang Xiao-Yu
Center of Reproductive Medicine, The Second Affiliated Hospital of Anhui Medical University, Anhui, Hefei 230022, China.
Center of Clinical Reproduction, Jiangsu Provincial Hospital / The First Affiliated Hospital of Nanjing Medical University, Nanjing, Jiangsu 210029, China.
Zhonghua Nan Ke Xue. 2024 Feb;30(2):118-122.
To investigate the genetic and clinical characteristics of 46, XX testicular disorders of sex development (DSD).
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.
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 reproductive 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 14 SRY-positive cases, and at chromosome 15 in the other 1.
46,XX testicular DSD has some similarity and heterogeneity in genetics and clinical characteristics.
探讨46, XX性发育障碍（DSD）中睾丸发育异常的遗传及临床特征。
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医学中心诊断为46, XX睾丸DSD患者的临床资料，分析其遗传及临床特征，以及SRY阳性患者的SRY基因染色体定位。
本研究共纳入26例患者，均为46, XX，AZFa、b和c区域缺失，平均身高（168.3±5.9）cm，体重（64.0±7.5）kg，BMI（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。患者精液量平均为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。SRY阴性患者生殖系统发育障碍发生率高于SRY阳性患者（5/6 vs 3/20，P = 0.004），但其他参数差异无统计学意义。14例SRY阳性病例中，13例SRY基因定位于Xp末端，1例定位于15号染色体。
46, XX睾丸DSD在遗传和临床特征上具有一定的相似性和异质性。
