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Discover Pediatric Collections on COVID-19 and Racism and Its Effects on Pediatric Health

American Academy of Pediatrics
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,
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Katherine Abell
bHuman Genetics,
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Jodie Johnson
bHuman Genetics,
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Stephanie Cizek
cPediatric and Adolescent Gynecology,
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Lesley Breech
cPediatric and Adolescent Gynecology,
dDepartment of Pediatrics, University of Cincinnati, Cincinnati, Ohio
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Michelle M. Ernst
dDepartment of Pediatrics, University of Cincinnati, Cincinnati, Ohio
eBehavioral Medicine and Clinical Psychology,
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Robert J. Hopkin
bHuman Genetics,
dDepartment of Pediatrics, University of Cincinnati, Cincinnati, Ohio
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Kimberly Kennedy
fPediatric Urology, and
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Jerzy Stanek
dDepartment of Pediatrics, University of Cincinnati, Cincinnati, Ohio
gPathology, Cincinnati Children’s Hospital Medical Center, Cincinnati, Ohio; and
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Andrew C. Strine
dDepartment of Pediatrics, University of Cincinnati, Cincinnati, Ohio
fPediatric Urology, and
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Meilan M. Rutter
aDivisions of Endocrinology,
dDepartment of Pediatrics, University of Cincinnati, Cincinnati, Ohio
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Article Information

vol. 146 no. 5 e20193302
DOI 
https://doi.org/10.1542/peds.2019-3302
PubMed 
33060256

Published By 
American Academy of Pediatrics
Print ISSN 
0031-4005
Online ISSN 
1098-4275
History 
  • Accepted March 30, 2020
  • Published online November 2, 2020.

Article Versions

  • previous version (October 15, 2020 - 00:05).
  • You are viewing the most recent version of this article.
Copyright & Usage 
Copyright © 2020 by the American Academy of Pediatrics

Author Information

  1. Ahlee Kim, MDa,
  2. Katherine Abell, MDb,
  3. Jodie Johnson, MSb,
  4. Stephanie Cizek, MDc,
  5. Lesley Breech, MDc,d,
  6. Michelle M. Ernst, PhDd,e,
  7. Robert J. Hopkin, MDb,d,
  8. Kimberly Kennedy, RNf,
  9. Jerzy Stanek, MDd,g,
  10. Andrew C. Strine, MDd,f, and
  11. Meilan M. Rutter, MB, BCh, FRACPa,d
  1. aDivisions of Endocrinology,
  2. bHuman Genetics,
  3. cPediatric and Adolescent Gynecology,
  4. eBehavioral Medicine and Clinical Psychology,
  5. fPediatric Urology, and
  6. gPathology, Cincinnati Children’s Hospital Medical Center, Cincinnati, Ohio; and
  7. dDepartment of Pediatrics, University of Cincinnati, Cincinnati, Ohio
  1. 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.

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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

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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
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