XY Gonadal Dysgenesis in a Phenotypic Female Identified by Direct-to-Consumer Genetic Testing
| Autor: | Lesley Breech, Kimberly Kennedy, Jodie Johnson, Katherine Abell, Ahlee Kim, Jerzy Stanek, Michelle M. Ernst, Meilan M. Rutter, Stephanie Cizek, Robert J. Hopkin, Andrew C. Strine |
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| Rok vydání: | 2020 |
| Předmět: |
Direct-to-consumer advertising
Lung Neoplasms Adolescent Gonadal dysgenesis Dysgerminoma Direct-to-Consumer Advertising Bioinformatics Article XY gonadal dysgenesis 03 medical and health sciences 0302 clinical medicine 030225 pediatrics Biomarkers Tumor Medicine Humans Genetic Testing Genes sry Genetic testing Gonadal Dysgenesis 46 XY Ovarian Neoplasms medicine.diagnostic_test business.industry Gender Identity Turner's syndrome medicine.disease Phenotype Pediatrics Perinatology and Child Health Female Gonadoblastoma business Psychosocial |
| Zdroj: | Pediatrics |
| ISSN: | 1098-4275 |
| Popis: | 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 non-genetic services, about the value, capabilities and limitations of DTC testing. |
| Databáze: | OpenAIRE |
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