Case Report
XY Gonadal Dysgenesis in a Phenotypic Female Identified by Direct-to-Consumer Genetic Testing
Ahlee Kim, Katherine Abell, Jodie Johnson, Stephanie Cizek, Lesley Breech, Michelle M. Ernst, Robert J. Hopkin, Kimberly Kennedy, Jerzy Stanek, Andrew C. Strine and Meilan M. Rutter
Pediatrics November 2020, 146 (5) e20193302; DOI: https://doi.org/10.1542/peds.2019-3302
Ahlee Kim
aDivisions of Endocrinology,
Katherine Abell
bHuman Genetics,
Jodie Johnson
bHuman Genetics,
Stephanie Cizek
cPediatric and Adolescent Gynecology,
Lesley Breech
cPediatric and Adolescent Gynecology,
dDepartment of Pediatrics, University of Cincinnati, Cincinnati, Ohio
Michelle M. Ernst
dDepartment of Pediatrics, University of Cincinnati, Cincinnati, Ohio
eBehavioral Medicine and Clinical Psychology,
Robert J. Hopkin
bHuman Genetics,
dDepartment of Pediatrics, University of Cincinnati, Cincinnati, Ohio
Kimberly Kennedy
fPediatric Urology, and
Jerzy Stanek
dDepartment of Pediatrics, University of Cincinnati, Cincinnati, Ohio
gPathology, Cincinnati Children’s Hospital Medical Center, Cincinnati, Ohio; and
Andrew C. Strine
dDepartment of Pediatrics, University of Cincinnati, Cincinnati, Ohio
fPediatric Urology, and
Meilan M. Rutter
aDivisions of Endocrinology,
dDepartment of Pediatrics, University of Cincinnati, Cincinnati, Ohio

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XY Gonadal Dysgenesis in a Phenotypic Female Identified by Direct-to-Consumer Genetic Testing
Ahlee Kim, Katherine Abell, Jodie Johnson, Stephanie Cizek, Lesley Breech, Michelle M. Ernst, Robert J. Hopkin, Kimberly Kennedy, Jerzy Stanek, Andrew C. Strine, Meilan M. Rutter
Pediatrics Nov 2020, 146 (5) e20193302; DOI: 10.1542/peds.2019-3302
XY Gonadal Dysgenesis in a Phenotypic Female Identified by Direct-to-Consumer Genetic Testing
Ahlee Kim, Katherine Abell, Jodie Johnson, Stephanie Cizek, Lesley Breech, Michelle M. Ernst, Robert J. Hopkin, Kimberly Kennedy, Jerzy Stanek, Andrew C. Strine, Meilan M. Rutter
Pediatrics Nov 2020, 146 (5) e20193302; DOI: 10.1542/peds.2019-3302
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