A case report of hypogonadism and infertility in 46,XX (SRY positive) male syndrome

Abstract

46, XX Male Syndrome is a rare genetic condition in which an individual has a male phenotype despite having a 46, XX karyotype. This is most often due to a translocation of the SRY gene from the short arm of the Y-chromosome onto the X chromosomes during paternal meiosis. Due to the absence of the long arm of the Y-chromosome, there is a de facto deletion of AZF regions a-c, and this results in infertility. We present a case of a 35-year-old male who was diagnosed with 46,XX (SRY+) Male Syndrome upon work-up for infertility and hypogonadism.