国际生殖健康/计划生育杂志2024，Vol.43Issue(1)：11-16,6.DOI:10.12280/gjszjk.20230352
45,X/47,XYY性发育异常一例并文献复习
45,X/47,XYY Disorders of Sex Development:A Case Report and Literature Review
摘要
Abstract
45,X/47,XYY sexual dysplasia is a disorder of abnormal sexual development due to a rare chromosomal abnormality.We report a case of 45,X/47,XYY mosaicism disorders of sex.The patient presented with primary amenorrhea and masculinization,as well as Turner syndrome.Laparoscopic exploration showed gonadal type for one side the cord-like gonads,one side the ovoid structure.The pathological condition was cryptorchidism type gonadal gland.Bilateral appendages were surgically removed,artificial cycle therapy was given,and then the patient had menstruation.In this paper,we summarized a total of 11 cases,including this case and other ten cases with the female phenotype reported in the literature,seeing a doctor for primary amenorrhea were found.The clinical manifestations,diagnosis and treatment of this disease were summarized as follows:women with phenotype 45,X/47,XYY sexual dysplasia have various clinical manifestations,most of which are Turner syndrome combined with masculinization.It should be early detection and removal of dysplasia gonads,to prevent the occurrence of gonadal tumors and masculine effects.Long-term alternative hormone therapy and psychological counseling should be performed after surgery.关键词
性发育障碍/嵌合体/性染色体畸变/性腺发育不全,混合性/泌尿生殖系统畸形/特纳综合征/激素替代疗法Key words
Disorders of sex development/Chimera/Sex chromosome aberrations/Gonadal dysgenesis,mixed/Urogenital abnormalities/Turner syndrome/Hormone replacement therapy引用本文复制引用
田文艳,罗营,李小燕,颜琪,薛凤霞,王颖梅,张慧英..45,X/47,XYY性发育异常一例并文献复习[J].国际生殖健康/计划生育杂志,2024,43(1):11-16,6.基金项目
国家自然科学基金(82171629) （82171629）
