45,X/47,XYY Disorders of Sex Development:A Case Report and Literature Review
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.
Disorders of sex developmentChimeraSex chromosome aberrationsGonadal dysgenesis,mixedUrogenital abnormalitiesTurner syndromeHormone replacement therapy
国家科技期刊平台
NSTL
万方数据
维普
