1.INTRODUCTION First described in 1964,46,XX male syndrome is a rare disorder of sex development(DSD)characterized by a discordance between a female karyotype and male phenotype.1,2 Its prevalence is estimated to be 3...1.INTRODUCTION First described in 1964,46,XX male syndrome is a rare disorder of sex development(DSD)characterized by a discordance between a female karyotype and male phenotype.1,2 Its prevalence is estimated to be 3 to 4 cases per 100,000 live male births.3,4 Clinically,the affected individuals can be grouped into three categories:phenotypically normal males with infertility,males with genital ambiguity,and true hermaphrodites.Previous reports have linked this condition to autoimmune thyroiditis and myelodysplastic syndromes.展开更多
基金supported by the National Natural Science Foundation of China(82200193,82572140).
文摘1.INTRODUCTION First described in 1964,46,XX male syndrome is a rare disorder of sex development(DSD)characterized by a discordance between a female karyotype and male phenotype.1,2 Its prevalence is estimated to be 3 to 4 cases per 100,000 live male births.3,4 Clinically,the affected individuals can be grouped into three categories:phenotypically normal males with infertility,males with genital ambiguity,and true hermaphrodites.Previous reports have linked this condition to autoimmune thyroiditis and myelodysplastic syndromes.
