Genetic and clinical characteristics of 46,XX testicular disorders of sex development
10.13263/j.cnki.nja.2024.02.004
- VernacularTitle:46,XX睾丸型性腺发育异常患者遗传和临床特征研究
- Author:
Qing-Lin YE
1
;
Jian-Zheng FANG
;
Xiao-Yu YANG
Author Information
1. 安徽医科大学第二附属医院生殖医学中心,安徽合肥 230022
- Keywords:
46,XX testicular disorders of sex development;
SRY gene;
fluorescence in situ hybridization;
male infertility
- From:
National Journal of Andrology
2024;30(2):118-122
- CountryChina
- Language:Chinese
-
Abstract:
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.
