XY Gonadal Dysgenesis in a Phenotypic Female Identified by Direct-to-Consumer Genetic Testing

^aDivisions of Endocrinology,
^bHuman Genetics,
^cPediatric and Adolescent Gynecology,
^eBehavioral Medicine and Clinical Psychology,
^fPediatric Urology, and
^gPathology, Cincinnati Children’s Hospital Medical Center, Cincinnati, Ohio; and
^dDepartment of Pediatrics, University of Cincinnati, Cincinnati, Ohio

Drs Kim, Abell, and Cizek and Ms Johnson (genetic counselor on the difference of sex development team) conceptualized and designed the study and case report, were involved with the acquisition and analysis of data (both clinically and with writing this report), drafted the initial manuscript, and reviewed and critically revised the manuscript; Drs Hopkin and Rutter conceptualized and designed the study and case report, were involved with the methodology and acquisition and analysis of data (and were directly involved with clinical intellectual management decisions and the patient’s care), provided supervision and oversight, drafted the initial manuscript, and reviewed and critically revised the manuscript; Dr Breech provided supervision and oversight, was involved with the methodology and acquisition and analysis of data (and was directly involved with clinical intellectual management decisions and the patient’s surgical and medical care), and reviewed and critically revised the manuscript; Dr Ernst conceptualized and designed the study and case report, curated data (as the psychologist involved with the patient’s care), drafted the initial manuscript, and reviewed and critically revised the manuscript; Ms Kennedy (clinical coordinator of the difference of sex development team) contributed substantially to the acquisition of data and reviewed and critically revised the manuscript; Dr Stanek was involved with the methodology and acquisition and analysis of data, wrote sections of the initial draft of the manuscript, and reviewed and revised the manuscript; Dr Strine conceptualized and designed the study, was involved with methodology and acquisition and analysis of data (and was directly involved with clinical intellectual management decisions and the patient’s surgical care), and reviewed and critically revised the manuscript; and all authors approved the final manuscript as submitted and agree to be accountable for all aspects of the work.

View Full Text