PT  - JOURNAL ARTICLE
AU  - Kim, Ahlee
AU  - Abell, Katherine
AU  - Johnson, Jodie
AU  - Cizek, Stephanie
AU  - Breech, Lesley
AU  - Ernst, Michelle M.
AU  - Hopkin, Robert J.
AU  - Kennedy, Kimberly
AU  - Stanek, Jerzy
AU  - Strine, Andrew C.
AU  - Rutter, Meilan M.
TI  - XY Gonadal Dysgenesis in a Phenotypic Female Identified by Direct-to-Consumer Genetic Testing
AID  - 10.1542/peds.2019-3302
DP  - 2020 Nov 01
TA  - Pediatrics
PG  - e20193302
VI  - 146
IP  - 5
4099  - http://pediatrics.aappublications.org/content/146/5/e20193302.short
4100  - http://pediatrics.aappublications.org/content/146/5/e20193302.full
SO  - Pediatrics2020 Nov 01; 146
AB  - 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.