XY Gonadal Dysgenesis in a Phenotypic Female Identified by Direct-to-Consumer Genetic Testing.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 33060256.
- Also identified by DOI 10.1542/peds.2019-3302 and PMC identifier 7875095.
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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.
Medical subject headings
- Direct-to-Consumer Advertising
- Dysgerminoma
- Genetic Testing
- Gonadal Dysgenesis, 46,XY
- Gonadoblastoma
- Ovarian Neoplasms