Christopher J Long1, Jason Van Batavia2, Amy B Wisniewski3, Christopher E Aston4, Laurence Baskin5, Earl Y Cheng6, Yegappan Lakshmanan7, Theresa Meyer8, Bradley Kropp9, Blake Palmer10, Natalie J Nokoff11, Alethea Paradis12, Brian VanderBrink13, Kristy J Scott Reyes14, Elizabeth Yerkes15, Dix P Poppas16, Larry L Mullins17, Thomas F Kolon18. 1. Children's Hospital of Philadelphia, USA. Electronic address: longc3@chop.edu. 2. Children's Hospital of Philadelphia, USA. Electronic address: vanbatavij@chop.edu. 3. Oklahoma State University, USA. Electronic address: amy.wisniewski@okstate.edu. 4. University of Oklahoma Health Sciences Center, USA. Electronic address: chris-aston@ouhsc.edu. 5. University of California San Francisco Medical Center, USA. Electronic address: Laurence.Baskin@ucsf.edu. 6. Lurie Children's Hospital of Chicago, USA. Electronic address: echeng@luriechildrens.org. 7. Children's Hospital of Michigan, USA. Electronic address: ylaksh@dmc.org. 8. Lurie Children's Hospital of Chicago, USA. Electronic address: tmeyer@luriechildrens.org. 9. Oklahoma State University, USA. Electronic address: brad.kropp@Icloud.com. 10. Cook Children's Medical Center, USA. Electronic address: blake.palmer@cookchildrens.org. 11. University of Colorado Anschutz Medical Campus, USA. Electronic address: natalie.nokoff@childrenscolorado.org. 12. St. Louis Children's Hospital, USA. Electronic address: paradisa@wudosis.wustl.edu. 13. Cincinnati Children's' Hospital, USA. Electronic address: brian.vanderbrink@cchmc.org. 14. Cook Children's Medical Center, USA. Electronic address: Kristy.reyes@cookchildrens.org. 15. Lurie Children's Hospital of Chicago, USA. Electronic address: eyerkes@luriechildrens.org. 16. New York Presbyterian Hospital/Weill Cornell Medicine, USA. Electronic address: dpoppas@med.cornell.edu. 17. Oklahoma State University, USA. Electronic address: larry.mullins@okstate.edu. 18. Children's Hospital of Philadelphia, USA. Electronic address: kolon@chop.edu.
Abstract
INTRODUCTION: Differences of sex development (DSD) are congenital conditions in which there is atypical chromosomal, gonadal and/or phenotypic sex. A phenotype of severe genital atypia in patients raised as male is a relatively rare occurrence and standards for management are lacking. Decision making for early surgical planning in these rare cases includes, but is not limited to, degree of atypia, location of testes, and presence of Mϋllerian remnants. In this study we describe surgical approaches and short-term outcomes for masculinizing genitoplasty in moderate to severe genital atypia in young patients raised male, for whom parents opted for early surgery. METHODS: This NIH-sponsored study is an ongoing, observational, multicenter investigation assessing medical, surgical and psychological outcomes in children and their parents affected by atypical genitalia due to DSD. Participants were prospectively enrolled from 12 children's hospitals across the United States that specialize in DSD care. Criteria for child enrollment were a Quigley score of 3-6 in those with a 46, XY or 45,X/46, XY chromosome complement, age <3 years with no previous genitoplasty; patients were included independent of whether genitoplasty was performed. Cosmesis was graded according to a 4-point Likert scale and complications per the Clavian-Dindo classification. RESULTS: Of the 31 participants, 30 underwent hypospadias repair and 1 patient did not undergo a genitoplasty procedure. The majority of participants (22) received a staged hypospadias repair. Seventeen complications were identified in 12 of the 31 children (41%) at 12 months of follow up. Glans dehiscence and urethrocutaneous fistula were the most common complications. Orchiopexy was performed in 14 (44%) and streak gonads were removed in 4 (13%) participants. Both parents and surgeons reported improved cosmesis after surgery when compared to baseline. CONCLUSION: Genitoplasty was chosen by parents for the majority of children eligible for study. No single surgical approach for masculinizing moderate to severe genital ambiguity in young patients with 46, XY or 45,X/46, XY DSD was adopted by all surgeons. Complications occurred in 41% of those who underwent genitoplasty for severe hypospadias. Overall, appearance of the genitals, as determined by parents and surgeons, improved following genitoplasty. Outcomes of early genitoplasty are needed to guide families when making decisions about such procedures for their young children.
INTRODUCTION: Differences of sex development (DSD) are congenital conditions in which there is atypical chromosomal, gonadal and/or phenotypic sex. A phenotype of severe genital atypia in patients raised as male is a relatively rare occurrence and standards for management are lacking. Decision making for early surgical planning in these rare cases includes, but is not limited to, degree of atypia, location of testes, and presence of Mϋllerian remnants. In this study we describe surgical approaches and short-term outcomes for masculinizing genitoplasty in moderate to severe genital atypia in young patients raised male, for whom parents opted for early surgery. METHODS: This NIH-sponsored study is an ongoing, observational, multicenter investigation assessing medical, surgical and psychological outcomes in children and their parents affected by atypical genitalia due to DSD. Participants were prospectively enrolled from 12 children's hospitals across the United States that specialize in DSD care. Criteria for child enrollment were a Quigley score of 3-6 in those with a 46, XY or 45,X/46, XY chromosome complement, age <3 years with no previous genitoplasty; patients were included independent of whether genitoplasty was performed. Cosmesis was graded according to a 4-point Likert scale and complications per the Clavian-Dindo classification. RESULTS: Of the 31 participants, 30 underwent hypospadias repair and 1 patient did not undergo a genitoplasty procedure. The majority of participants (22) received a staged hypospadias repair. Seventeen complications were identified in 12 of the 31 children (41%) at 12 months of follow up. Glans dehiscence and urethrocutaneous fistula were the most common complications. Orchiopexy was performed in 14 (44%) and streak gonads were removed in 4 (13%) participants. Both parents and surgeons reported improved cosmesis after surgery when compared to baseline. CONCLUSION: Genitoplasty was chosen by parents for the majority of children eligible for study. No single surgical approach for masculinizing moderate to severe genital ambiguity in young patients with 46, XY or 45,X/46, XY DSD was adopted by all surgeons. Complications occurred in 41% of those who underwent genitoplasty for severe hypospadias. Overall, appearance of the genitals, as determined by parents and surgeons, improved following genitoplasty. Outcomes of early genitoplasty are needed to guide families when making decisions about such procedures for their young children.
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Authors: K J Bernabé; N J Nokoff; D Galan; D Felsen; C E Aston; P Austin; L Baskin; Y-M Chan; E Y Cheng; D A Diamond; R Ellens; A Fried; S Greenfield; T Kolon; B Kropp; Y Lakshmanan; S Meyer; T Meyer; A M Delozier; L L Mullins; B Palmer; A Paradis; P Reddy; K J Scott Reyes; M Schulte; J M Swartz; E Yerkes; C Wolfe-Christensen; A B Wisniewski; D P Poppas Journal: J Pediatr Urol Date: 2018-02-02 Impact factor: 1.921
Authors: Michael Goodman; Rami Yacoub; Darios Getahun; Courtney E McCracken; Suma Vupputuri; Timothy L Lash; Douglas Roblin; Richard Contreras; Lee Cromwell; Melissa D Gardner; Trenton Hoffman; Haihong Hu; Theresa M Im; Radhika Prakash Asrani; Brandi Robinson; Fagen Xie; Rebecca Nash; Qi Zhang; Sadaf A Bhai; Kripa Venkatakrishnan; Bethany Stoller; Yijun Liu; Cricket Gullickson; Maaz Ahmed; David Rink; Ava Voss; Hye-Lee Jung; Jin Kim; Peter A Lee; David E Sandberg Journal: BMJ Open Date: 2022-09-21 Impact factor: 3.006