Wu D H, Tian H J, Yuan J N, Dong G P, Wu D W, Yang R W, Sun L Y, Tang D X, Fu J F
Department of Pediatric Urological Surgery, Children's Hospital, Zhejiang University School of Medicine, Hangzhou 310003, China.
Department of Endocrinology, Children's Hospital, Zhejiang University School of Medicine, Hangzhou 310003, China.
Zhonghua Er Ke Za Zhi. 2019 Oct 2;57(10):786-791. doi: 10.3760/cma.j.issn.0578-1310.2019.10.011.
To explore the feasibility of gender assignment in 46,XY disorders of sex development (DSD) with severe undermasculinisation mainly based on molecular diagnosis. A retrospective study of 45 patients of 46, XY DSD with severe undermasculinisation were admitted between November 2015 and October 2018 at Children's Hospital, Zhejiang University School of Medicine. The initial social gender were all female, of whom the external genital manifestations were Prader 0 to 2; the degree of masculinity was scored using external masculinisation score (EMS); the position and development of the gonads were examined by ultrasound, cystoscopy and laparoscopy, also including assessing the development of the Wolffian tube and the Müllerian tube. The level and ratio of testosterone to dihydrotestosterone before and after hCG stimulation were evaluated for the function of Leydig cell and 5α-reductase-2. Gender role scales and sandbox games were used to assess gender role behavior. Genital sensitivity to androgen stimulation was assessed; A panel including 163 genes related to gender development were determined by second-generation sequencing in all 45 patients. Finally, a multidisciplinary team (MDT) makes a gender assignment after a comprehensive analysis mainly based on the molecular etiological diagnosis. Thirty-nine out of 45 patients (87%) had an identifiable genetic etiology, and the remaining 6 (13%) were negative for genetic testing. Forty-five patients had EMS less than or equal to 3 points. Sexual psychological assessment was performed in 39 patients, with male dominance in 24 (62%) and female dominance in 15 (38%). The gender assignment was 23 cases (51%) for male and 19 cases (42%) for female, and 3 cases (7%) were not completely determined. Molecular diagnosis provides a strong basis for appropriate gender assignment of 46, XY DSD children with severe undermasculinisation. Based on molecular diagnosis, each DSD should be analyzed by professional MDT to analyze the clinical symptoms/signs, gonadal development, gonad tumor risk, external genital morphology, sexual psychological assessment, potential fertility opportunities, parental views, Social and cultural factors, etc. make appropriate gender assignment.
探讨主要基于分子诊断对46,XY性发育障碍（DSD）且男性化严重不足患者进行性别指定的可行性。对2015年11月至2018年10月期间浙江大学医学院附属儿童医院收治的45例46,XY DSD且男性化严重不足的患者进行回顾性研究。初始社会性别均为女性，其中外生殖器表现为Prader 0至2级；使用外生殖器男性化评分（EMS）对男性化程度进行评分；通过超声、膀胱镜检查和腹腔镜检查评估性腺的位置和发育情况，还包括评估中肾管和苗勒管的发育情况。评估人绒毛膜促性腺激素（hCG）刺激前后睾酮与双氢睾酮的水平及比值，以了解睾丸间质细胞和5α-还原酶-2的功能。使用性别角色量表和沙盘游戏评估性别角色行为；评估生殖器对雄激素刺激的敏感性；对所有45例患者进行二代测序，确定一个包含163个与性别发育相关基因的基因panel。最后，多学科团队（MDT）主要基于分子病因诊断进行综合分析后做出性别指定。45例患者中有39例（87%）有明确的遗传病因，其余6例（13%）基因检测为阴性。45例患者的EMS均小于或等于3分。对39例患者进行了性心理评估，其中24例（62%）表现为男性主导，15例（38%）表现为女性主导。性别指定为男性23例（51%），女性19例（42%），3例（7%）未完全确定。分子诊断为46,XY DSD且男性化严重不足的儿童进行适当的性别指定提供了有力依据。基于分子诊断，应由专业的MDT对每例DSD进行分析，综合临床症状/体征、性腺发育、性腺肿瘤风险、外生殖器形态、性心理评估、潜在生育机会、父母意见、社会和文化因素等做出适当的性别指定。
