摘要
性发育异常(disorders of sex development, DSD)是一组以染色体核型、性腺表型、性腺解剖结构不一致为特征的先天性疾病。46,XY DSD主要是指染色体核型为46,XY但性腺性别和(或)表型性别与之不相匹配的一类疾病,临床表现异质性大。由于疾病内部的遗传异质性和疾病之间的表型重叠,诊断具有挑战性。Disorders of sex development (DSD) are a group of congenital diseases characterized by inconsistencies in chromosomal karyotype, gonadal phenotype, and gonadal anatomical structure. 46,XY DSD mainly refers to a type of disease in which the chromosomal karyotype is 46,XY but the gonadal sex and/or phenotypic sex do not match it, and the clinical manifestations are highly heterogeneous. Due to the genetic heterogeneity within the disease and the phenotypic overlap between diseases, diagnosis is challenging.
出处
《临床医学进展》
2024年第11期170-175,共6页
Advances in Clinical Medicine
