46,XX Testicular Differences of Sex Development (XX Male Syndrome) Chromosome Sequencing

Here we present a case study of a male subject in his 40s who underwent direct-to-consumer (DTC) genetic testing that utilized microarray, which revealed the absence of Y-chromosome haplogroup data despite possessing a typical male phenotype. Subsequent medical consultation, whole-genome sequencing (WGS), and chromosomal analysis confirmed a diagnosis of 46,XX testicular differences of sex development (XX male syndrome) characterized by the presence of Y chromosome-derived genomic material, including the SRY gene.