摘要【目的】 探讨46,XY性发育异常(disorders of sex development,DSD)的病因及诊治情况。【方法】 回顾性分析本院诊治的4例病理确诊的46,XY,DSD患者的一般资料、体格检查、辅助检查及治疗等相关资料。【结果】 4例46,XY,DSD患者中2例诊断为46,XY,单纯性腺发育不全,2例诊断为完全雄激素不敏感综合征(CAIS)。患者一般生长和智力正常,原发闭经,青春期无女性第二性征的发育,无阴、腋毛或稀少,乳房不发育,内外生殖器发育幼稚。对于46,XY,DSD患者建议行全外显子组测序检测以及SRY基因检测。【结论】 46,XY,DSD患者明确诊断后,性别分配是最重要和最棘手的问题之一,应基于诊断和多学科团队的综合评估,重视父母的参与和决策,保护患者的隐私,由有经验的外科医生向患者及其家属解释可能的手术方案及可能的结果,同时要考虑患者的性心理、发生性腺肿瘤的风险、可能的生育潜力、青春期可能的激素替代治疗等。
Abstract：【Objective】 To investigate the etiology, diagnosis and treatment options of 46, XY, disorders of sex development (DSD). 【Methods】 Retrospective analysis of general information of physical examination, auxiliary examination and treatment information of the four pathologically confirmed 46, XY,DSD patients, who were admitted to Hunan Maternal and Child Health Hospital in 2018. 【Results】 Of the four patients with 46,XY,DSD, two patients were diagnosed with 46,XY, simple gonadal hypoplasia, and two were diagnosed with 46,XY,complete androgen insensitivity syndrome (CAIS). In general patients have normal growth and intelligence, however, they had primary amenorrhea, no female secondary sexual characteristics in adolescence, lack or sparse genitalia and axillary hair, underdeveloped breasts, and immature internal and external genitalia. For 46, XY, and DSD patients, it was recommended to perform whole exome sequencing test and SRY gene test.【Conclusion】 After the diagnosis of 46, XY, DSD is clear, gender assignment is one of the most important and difficult issues. Based on the diagnosis and the comprehensive assessment of a multidisciplinary teams, respect of the parents' participation and decision making, and protection of patient privacy, the experienced surgeons should clearly explain to patients and their families with possible surgical options and outcomes, patient's sex psychology, risk of gonadal tumors, possible reproductive potential, and hormone replacement therapy during adolescence.
王映霞, 方超英, 吴颖岚, 邹颖, 聂岚, 张亚南. 四例46,XY性发育异常病例报告及文献回顾[J]. 医学临床研究, 2020, 37(7): 971-975.
WANG Ying-xia, FANG Chao-ying, WU Ying-lan, et al. Case Report of 4 Patients with Disorders of Sex Development (46, XY). JOURNAL OF CLINICAL RESEARCH, 2020, 37(7): 971-975.
2020, Vol. 37 
