Xy Gonadal Dysgenesis In A Phenotypic Female Identified By Direct-To-Consumer Genetic Testing

In this case report, we discuss a novel presentation of a girl with XY chromosomes discovered through DTC genetic testing, highlighting the importance of interdisciplinary care and the capabilities and limitations of such testing.We report a 16-year-old phenotypic female with 46,XY complete gonadal dysgenesis and metastatic dysgerminoma, unexpectedly discovered through direct-to-consumer (DTC) commercial genetic testing. This case underscores the importance of timely interdisciplinary care, including psychosocial intervention and consideration of gonadectomy, to optimize outcomes for individuals with differences of sex development. Her unique presentation highlights the implications of DTC genetic testing in a new diagnostic era and informs general pediatricians as well as specialists of nongenetic services about the value, capabilities, and limitations of DTC testing.