@article{d9ded44406fc40ccb2e03f5d490de91d,
title = "XY gonadal dysgenesis in a phenotypic female identified by direct-to-consumer genetic testing",
abstract = "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.",
author = "Ahlee Kim and Katherine Abell and Jodie Johnson and Stephanie Cizek and Lesley Breech and Ernst, {Michelle M.} and Hopkin, {Robert J.} and Kimberly Kennedy and Jerzy Stanek and Strine, {Andrew C.} and Rutter, {Meilan M.}",
note = "Funding Information: FUNDING: The authors receive partial funding from the Eunice Kennedy Shriver National Institute of Child Health and Human Development of the National Institutes of Health grant R01HD093450-01A1 but those funds were not used for this case report. Publisher Copyright: Copyright {\textcopyright} 2020 by the American Academy of Pediatrics",
year = "2020",
month = nov,
day = "1",
doi = "10.1542/peds.2019-3302",
language = "English",
volume = "146",
journal = "Pediatrics",
issn = "0031-4005",
number = "5",
}