N J Nokoff1, B Palmer2, A J Mullins3, C E Aston4, P Austin5, L Baskin6, K Bernabé7, Y-M Chan8, E Y Cheng9, D A Diamond10, A Fried11, D Frimberger2, D Galan7, L Gonzalez12, S Greenfield11, T Kolon13, B Kropp2, Y Lakshmanan14, S Meyer11, T Meyer9, L L Mullins3, A Paradis5, D Poppas7, P Reddy15, M Schulte15, K J Scott Reyes2, J M Swartz8, C Wolfe-Christensen16, E Yerkes9, A B Wisniewski17. 1. Department of Pediatrics, Section of Pediatric Endocrinology, University of Colorado Denver School of Medicine, 13123 East 16th Ave Box B265, Aurora 80045, CO, USA. Electronic address: Natalie.Nokoff@childrenscolorado.org. 2. Department of Urology, The University of Oklahoma College of Medicine, 920 Stanton L Young Blvd, WP 3150, Oklahoma City 72104, OK, USA. 3. Department of Psychology, Oklahoma State University, 116 North Murray, Stillwater 74078, OK, USA. 4. Department of Pediatrics, The University of Oklahoma College of Medicine, 920 Stanton L Young Blvd, WP 3150, Oklahoma City 72104, OK, USA. 5. Department of Surgery, Division of Urology, Washington University School of Medicine, 660 South Euclid Ave, Campus Box 8242, St. Louis 63110, MO, USA. 6. Department of Urology, University of California San Francisco, 400 Parnassus Ave, San Francisco 94143, CA, USA. 7. Department of Urology, Weill Cornell Medicine, 525 East 68th St., Box 94, New York 10065, NY, USA. 8. Department of Pediatrics, Division of Endocrinology, Harvard Medical School, 300 Longwood Ave, Boston 02115, MA, USA. 9. Department of Urology, Northwestern University, Feinberg School of Medicine, 225 E Chicago Ave, Box 24, Chicago 60611, IL, USA. 10. Department of Urology, Harvard Medical School, 300 Longwood Ave, Boston 02115, MA, USA. 11. Department of Pediatric Urology, Women and Children's Hospital of Buffalo, Buffalo 14222, NY, USA. 12. Pediatric Nephrology and Urology, University of California San Francisco, 400 Parnassus Ave, San Francisco 94143, CA, USA. 13. Department of Urology, Perelman School of Medicine, University of Pennsylvania, 34th Street & Civic Center Blvd., Philadelphia 19104, PA, USA. 14. Department of Urology, Wayne State University School of Medicine, 3901 Beaubien, Detroit 48201, MI, USA. 15. Department of Pediatrics, Division of Pediatric Urology, University of Cincinnati College of Medicine, Cincinnati Children's Hospital Medical Center, MLC 5037, 3333 Burnet Ave, Cincinnati, OH, USA. 16. Department of Pediatrics, The University of Oklahoma College of Medicine, 920 Stanton L Young Blvd, WP 3150, Oklahoma City 72104, OK, USA; Department of Urology, Wayne State University School of Medicine, 3901 Beaubien, Detroit 48201, MI, USA. 17. Department of Urology, The University of Oklahoma College of Medicine, 920 Stanton L Young Blvd, WP 3150, Oklahoma City 72104, OK, USA; Department of Pediatrics, The University of Oklahoma College of Medicine, 920 Stanton L Young Blvd, WP 3150, Oklahoma City 72104, OK, USA.
Abstract
INTRODUCTION: Little data exist about the surgical interventions taking place for children with disorders of sex development (DSD). Most studies that have evaluated cosmetic outcomes after genitoplasty have included retrospective ratings by a physician at a single center. OBJECTIVE: The present study aimed to: 1) describe frequency of sex assignment, and types of surgery performed in a cohort of patients with moderate-to-severe genital ambiguity; and 2) prospectively determine cosmesis ratings by parents and surgeons before and after genital surgery. STUDY DESIGN: This prospective, observational study included children aged <2 years of age, with no prior genitoplasty at the time of enrollment, moderate-to-severe genital atypia, and being treated at one of 11 children's hospitals in the United States of America (USA). Clinical information was collected, including type of surgery performed. Parents and the local pediatric urologist rated the cosmetic appearance of the child's genitalia prior to and 6 months after genitoplasty. RESULTS: Of the 37 children meeting eligibility criteria, 20 (54%) had a 46,XX karyotype, 15 (40%) had a 46,XY karyotype, and two (5%) had sex chromosome mosaicism. The most common diagnosis overall was congenital adrenal hyperplasia (54%). Thirty-five children had surgery; 21 received feminizing genitoplasty, and 14 had masculinizing genitoplasty. Two families decided against surgery. At baseline, 22 mothers (63%), 14 fathers (48%), and 35 surgeons (100%) stated that they were dissatisfied or very dissatisfied with the appearance of the child's genitalia. Surgeons rated the appearance of the genitalia significantly worse than mothers (P < 0.001) and fathers (P ≤ 0.001) at baseline. At the 6-month postoperative visit, cosmesis ratings improved significantly for all groups (P < 0.001 for all groups). Thirty-two mothers (94%), 26 fathers (92%), and 31 surgeons (88%) reported either a good outcome, or they were satisfied (see Summary Figure); there were no significant between-group differences in ratings. DISCUSSION: This multicenter, observational study showed surgical interventions being performed at DSD centers in the USA. While parent and surgeon ratings were discordant pre-operatively, they were generally concordant postoperatively. Satisfaction with postoperative cosmesis does not necessarily equate with satisfaction with the functional outcome later in life. CONCLUSION: In this cohort of children with genital atypia, the majority had surgery. Parents and surgeons all rated the appearance of the genitalia unfavorably before surgery, with surgeons giving worse ratings than parents. Cosmesis ratings improved significantly after surgery, with no between-group differences.
INTRODUCTION: Little data exist about the surgical interventions taking place for children with disorders of sex development (DSD). Most studies that have evaluated cosmetic outcomes after genitoplasty have included retrospective ratings by a physician at a single center. OBJECTIVE: The present study aimed to: 1) describe frequency of sex assignment, and types of surgery performed in a cohort of patients with moderate-to-severe genital ambiguity; and 2) prospectively determine cosmesis ratings by parents and surgeons before and after genital surgery. STUDY DESIGN: This prospective, observational study included children aged <2 years of age, with no prior genitoplasty at the time of enrollment, moderate-to-severe genital atypia, and being treated at one of 11 children's hospitals in the United States of America (USA). Clinical information was collected, including type of surgery performed. Parents and the local pediatric urologist rated the cosmetic appearance of the child's genitalia prior to and 6 months after genitoplasty. RESULTS: Of the 37 children meeting eligibility criteria, 20 (54%) had a 46,XX karyotype, 15 (40%) had a 46,XY karyotype, and two (5%) had sex chromosome mosaicism. The most common diagnosis overall was congenital adrenal hyperplasia (54%). Thirty-five children had surgery; 21 received feminizing genitoplasty, and 14 had masculinizing genitoplasty. Two families decided against surgery. At baseline, 22 mothers (63%), 14 fathers (48%), and 35 surgeons (100%) stated that they were dissatisfied or very dissatisfied with the appearance of the child's genitalia. Surgeons rated the appearance of the genitalia significantly worse than mothers (P < 0.001) and fathers (P ≤ 0.001) at baseline. At the 6-month postoperative visit, cosmesis ratings improved significantly for all groups (P < 0.001 for all groups). Thirty-two mothers (94%), 26 fathers (92%), and 31 surgeons (88%) reported either a good outcome, or they were satisfied (see Summary Figure); there were no significant between-group differences in ratings. DISCUSSION: This multicenter, observational study showed surgical interventions being performed at DSD centers in the USA. While parent and surgeon ratings were discordant pre-operatively, they were generally concordant postoperatively. Satisfaction with postoperative cosmesis does not necessarily equate with satisfaction with the functional outcome later in life. CONCLUSION: In this cohort of children with genital atypia, the majority had surgery. Parents and surgeons all rated the appearance of the genitalia unfavorably before surgery, with surgeons giving worse ratings than parents. Cosmesis ratings improved significantly after surgery, with no between-group differences.
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