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6. Post-operative complications following feminizing genitoplasty in moderate to severe genital atypia: Results from a multicenter, observational prospective cohort study

Author

Baskin, Avi, Wisniewski, Amy B, Aston, Christopher E, Austin, Paul, Chan, Yee-Ming, Cheng, Earl Y, Diamond, David A, Fried, Allyson, Kolon, Thomas, Lakshmanan, Yegappan, Williot, Pierre, Meyer, Sabrina, Meyer, Theresa, Kropp, Bradley, Nokoff, Natalie, Palmer, Blake, Paradis, Alethea, Poppas, Dix, VanderBrink, Brian, Scott Reyes, Kristy J, Tishelman, Amy, Wolfe-Christensen, Cortney, Yerkes, Elizabeth, Mullins, Larry L, and Baskin, Laurence

Subjects
Paediatrics, Biomedical and Clinical Sciences, Clinical Sciences, Pediatric, Sexual and Gender Minorities (SGM/LGBT*), Clinical Research, Patient Safety, Congenital Structural Anomalies, Genetics, Rare Diseases, 6.4 Surgery, Evaluation of treatments and therapeutic interventions, Adrenal Hyperplasia, Congenital, Child, Child, Preschool, Cohort Studies, Disorders of Sex Development, Female, Genitalia, Humans, Male, Prospective Studies, Urogenital Surgical Procedures, Atypical genitalia, Congenital adrenal hyperplasia, Urogenital sinus reconstruction, Disorders of sex development, Paediatrics and Reproductive Medicine, Urology & Nephrology, Clinical sciences
Abstract

Disorders/differences of sex development (DSD) are congenital conditions in which there is atypical chromosomal, gonadal and/or phenotypic sex. While there remains controversy around the traditionally binary concept of sex, most patients with DSD are reared either male or female depending on their genetic sex, gonadal sex, genital phenotype and status of their internal genital tract. This study uses prospective data from 12 institutions across the United States that specialize in DSD care. We focused on patients raised female. Eligible patients had moderate to severe genital atypia (defined as Prader score >2), were ≤2 years of age at entry, and had no prior genitoplasty. The aim of this study is to describe early post operative complications for young patients undergoing modern approaches to feminizing genitoplasty. Of the 91 participants in the cohort, 57 (62%) were reared female. The majority had congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (n = 52), 1 had ovo-testicular syndrome, 2 had mixed gonadal dysgenesis and 2 had partial androgen insensitivity syndrome (PAIS). Of the 50 participants who received early genitoplasty, 43 (86%) had follow-up at 6-12 months post-surgery. Thirty-two participants (64%) received a clitoroplasty, 31 (62%) partial urogenital mobilization and 4 (8%) total urogenital sinus mobilization. Eighteen percent (9/50) experienced post-surgical complications with 7 (14%) being rated as Clavien-Dindo grade III. Both parents and surgeons reported improved satisfaction with genital appearance of participants following surgery compared to baseline. This information on post-operative complications associated with contemporary approaches to feminizing genitoplasty performed in young children will help guide families when making decisions about whether or not to proceed with surgery for female patients with moderate to severe genital atypia.

Published
2020

8. Feasibility of Enhanced Recovery After Surgery (ERAS) implementation in Pediatric Urology: Pilot-phase outcomes of a prospective, multi-center study

Author

Strine, Andrew C., Chu, David I., Brockel, Megan A., Wilcox, Duncan T., Vricella, Gino J., Coplen, Douglas E., Traxel, Erica J., Chaudhry, Rajeev, VanderBrink, Brian A., Yerkes, Elizabeth B., Chan, Yvonne Y., Burjek, Nicholas E., Zee, Rebecca S., Herndon, C.D. Anthony, Ahn, Jennifer J., Merguerian, Paul A., Meenakshi-Sundaram, Bhalaajee, Rensing, Adam J., Frimberger, Dominic, and Rove, Kyle O.

Published
2024
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9. Reply by Authors

Author

Meier, Kristen M., primary, Mata, Claudia, additional, Kaar, Jill L., additional, Rkensing, Adam J., additional, Dudley, Anne G., additional, Carrasco, Alonso, additional, Drzewiecki, Beth A., additional, VanderBrink, Brian A., additional, Streur, Courtney S., additional, Bagli, Darius J., additional, Chalmers, David J., additional, Wilcox, Duncan T., additional, Yerkes, Elizabeth B., additional, Lau, Glen A., additional, Vricella, Gino J., additional, Hecht, Sarah L., additional, Copp, Hillary L., additional, Pohl, Hans G., additional, Franco, Israel, additional, Ahn, Jennifer, additional, Wiener, John S., additional, Singer, Jennifer S., additional, Long, Christopher J., additional, Keays, Melise A., additional, Daugherty, Michael R., additional, Fuchs, Molly E., additional, Austin, Paul F., additional, Wu, Charlotte Q., additional, Zee, Rebecca S., additional, Misseri, Rosalia, additional, Tanaka, Stacy T., additional, Bauer, Stuart B., additional, and Rove, Kyle O., additional

Published
2024
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10. PD04-06 EXPERT CONSENSUS ON PEDIATRIC URODYNAMICS REPORTING USING MODIFIED DELPHI TECHNIQUE

Author

Meier, Kristen M., primary, Mata, Claudia, additional, Kaar, Jill L., additional, Rensing, Adam J., additional, Dudley, Anne G., additional, Carrasco, Alonso, additional, Drzewiecki, Beth A., additional, VanderBrink, Brian A., additional, Streur, Courtney S., additional, Bagli, Darius J., additional, Chalmers, David J., additional, Wilcox, Duncan T., additional, Yerkes, Elizabeth B., additional, Lau, Glen A., additional, Vricella, Gino J., additional, Hecht, Sarah L., additional, Copp, Hillary L., additional, Pohl, Hans G., additional, Franco, Israel, additional, Ahn, Jennifer, additional, Wiener, John S., additional, Singer, Jennifer S., additional, Long, Christopher J., additional, Keays, Melise A., additional, Daugherty, Michael R., additional, Fuchs, Molly E., additional, Austin, Paul F., additional, Wu, Charlotte Q., additional, Zee, Rebecca S., additional, Misseri, Rosalia, additional, Tanaka, Stacy T., additional, Bauer, Stuart B., additional, and Rove, Kyle O., additional

Published
2024
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12. Post-operative complications following masculinizing genitoplasty in moderate to severe genital atypia: results from a multicenter, observational prospective cohort study

Author

Long, Christopher J., Van Batavia, Jason, Wisniewski, Amy B., Aston, Christopher E., Baskin, Laurence, Cheng, Earl Y., Lakshmanan, Yegappan, Meyer, Theresa, Kropp, Bradley, Palmer, Blake, Nokoff, Natalie J., Paradis, Alethea, VanderBrink, Brian, Scott Reyes, Kristy J., Yerkes, Elizabeth, Poppas, Dix P., Mullins, Larry L., and Kolon, Thomas F.

Published
2021
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16. Causes of death among people with myelomeningocele: A multi-institutional 47-year retrospective study

Author

Szymanski, Konrad M., primary, Adams, Cyrus M., additional, Alkawaldeh, Mohammad Y., additional, Austin, Paul F., additional, Bowman, Robin M., additional, Castillo, Heidi, additional, Castillo, Jonathan, additional, Chu, David I., additional, Estrada, Carlos R., additional, Fascelli, Michele, additional, Frimberger, Dominic C., additional, Gargollo, Patricio C., additional, Hamdan, Dawud G., additional, Hecht, Sarah L., additional, Hopson, Betsy, additional, Husmann, Douglas A., additional, Jacobs, Micah A., additional, MacNeily, Andrew E., additional, McLeod, Daryl J., additional, Metcalfe, Peter D., additional, Meyer, Theresa, additional, Misseri, Rosalia, additional, O’Neil, Joseph, additional, Rensing, Adam J., additional, Routh, Jonathan C., additional, Rove, Kyle O., additional, Sawin, Kathleen J., additional, Schlomer, Bruce J., additional, Shamblin, Isaac, additional, Sherlock, Rebecca L., additional, Slobodov, Gennady, additional, Stout, Jennifer, additional, Tanaka, Stacy T., additional, Weiss, Dana A., additional, Wiener, John S., additional, Wood, Hadley M., additional, Yerkes, Elizabeth B., additional, and Blount, Jeffrey, additional

Published
2023
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17. Characterizing Early Psychosocial Functioning of Parents of Children with Moderate to Severe Genital Ambiguity due to Disorders of Sex Development

Author

Suorsa, Kristina I, Mullins, Alexandria J, Tackett, Alayna P, Reyes, Kristy J Scott, Austin, Paul, Baskin, Laurence, Bernabé, Kerlly, Cheng, Earl, Fried, Allyson, Frimberger, Dominic, Galan, Denise, Gonzalez, Lynette, Greenfield, Saul, Kropp, Bradley, Meyer, Sabrina, Meyer, Theresa, Nokoff, Natalie, Palmer, Blake, Poppas, Dix, Paradis, Alethea, Yerkes, Elizabeth, Wisniewski, Amy B, and Mullins, Larry L

Subjects
Pediatric, Brain Disorders, Depression, Anxiety Disorders, Mind and Body, Mental Health, Behavioral and Social Science, Clinical Research, 6.6 Psychological and behavioural, Evaluation of treatments and therapeutic interventions, Mental health, 46, XX Disorders of Sex Development, Adaptation, Psychological, Adrenal Hyperplasia, Congenital, Adult, Depressive Disorder, Disorders of Sex Development, Female, Gender Identity, Gonadal Dysgenesis, 46, XY, Humans, Karyotyping, Male, Mass Screening, Parents, Quality of Life, Stress Disorders, Post-Traumatic, Surveys and Questionnaires, Turner Syndrome, anxiety, depression, disorders of sex development, quality of life, stress disorders, post-traumatic, post-traumatic, stress disorders
Abstract

PurposeWe examined the psychosocial characteristics of parents of children with disorders of sex development at early presentation to a disorders of sex development clinic. Parental anxiety, depression, quality of life, illness uncertainty and posttraumatic stress symptoms were assessed. Additionally we evaluated the relationship of assigned child gender to parental outcomes.Materials and methodsA total of 51 parents of children with ambiguous or atypical genitalia were recruited from 7 centers specializing in treatment of disorders of sex development. At initial assessment no child had undergone genitoplasty. Parents completed the Cosmetic Appearance Rating Scale, Beck Anxiety Inventory, Beck Depression Inventory, SF-36, Parent Perception of Uncertainty Scale and Impact of Event Scale-Revised.ResultsA large percentage of parents (54.5%) were dissatisfied with the genital appearance of their child, and a small but significant percentage reported symptoms of anxiety, depression, diminished quality of life, uncertainty and posttraumatic stress. Few gender differences emerged.ConclusionsAlthough many parents function well, a subset experience significant psychological distress around the time of diagnosis of a disorder of sex development in their child. Early screening to assess the need for psychosocial interventions is warranted.

Published
2015

19. Male perspectives on clinical communication about sexual health in spina bifida.

Author

Rague, James T., Hirsch, Josephine, Rosoklija, Ilina, Meyer, Theresa, Streur, Courtney, Kielb, Stephanie, Cheng, Earl Y., Bowen, Diana K., Yerkes, Elizabeth B., and Chu, David I.

Subjects
SPINA bifida, SEXUAL health, YOUNG adults, MEDICAL communication, DEMOGRAPHIC characteristics
Abstract

Aim: To assess perspectives on clinical communication about sexual health in young adult males with spina bifida. Method: Semi‐structured interviews were conducted between February and May 2021 with males at least 18 years of age with spina bifida to assess their perspectives and experiences of sexual health communication with clinicians. Demographic and clinical characteristics were obtained from chart review and a survey of patients. Interviews were transcribed verbatim, and conventional content analysis was used for transcript coding. Results: Twenty individuals participated with a median age of 22 years 6 months (range 18–29 years). Sixteen had myelomeningocele. Most identified as heterosexual (n = 17) and not sexually active (n = 13). Barriers and facilitators of successful interactions were identified. Barriers for participants included general discomfort with talking about sex and variability in individual preferences for how conversations occur. Facilitators included participants' comfort with their urologist and discussing sex in relation to disability. Suggestions for improving discussions included (1) notifying individuals that discussion about sex will occur before clinic visits; (2) creating space for discussions; (3) respecting individuals' readiness to discuss; and (4) making discussions disability specific. Interpretation: Young adult males with spina bifida are interested in discussing sexual health with their clinicians. Great variability exists about conversation preferences, emphasizing the need to individualize clinical communication about sex. Current health guidelines for males may not be in line with individuals' wishes. What this paper adds: Great variability exists in individual preference around sexual health communication.Patient‐level barriers hinder successful conversations about sex.Individuals have great insight into how conversations about sex can be improved. [ABSTRACT FROM AUTHOR]

Published
2024
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24. Uncertainty and Posttraumatic Stress: Differences Between Mothers and Fathers of Infants with Disorders of Sex Development

Author

Delozier, Alexandria M., Gamwell, Kaitlyn L., Sharkey, Christina, Bakula, Dana M., Perez, Megan N., Wolfe-Christensen, Cortney, Austin, Paul, Baskin, Laurence, Bernabé, Kerlly J., Chan, Yee-Ming, Cheng, Earl Y., Diamond, David A., Ellens, Rebecca E. H., Fried, Allyson, Galan, Denise, Greenfield, Saul, Kolon, Thomas, Kropp, Bradley, Lakshmanan, Yegappan, Meyer, Sabrina, Meyer, Theresa, Nokoff, Natalie J., Reyes, Kristy J., Palmer, Blake, Poppas, Dix P., Paradis, Alethea, Tishelman, Amy C., Yerkes, Elizabeth B., Chaney, John M., Wisniewski, Amy B., and Mullins, Larry L.

Published
2019
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25. Clinical utility of early rapid genome sequencing in the evaluation of patients with differences of sex development.

Author

Aekka, Apoorva, Weisman, Allison Goetsch, Papadakis, Jaclyn, Yerkes, Elizabeth, Baker, Joshua, Keswani, Mahima, Weinstein, Joanna, and Finlayson, Courtney

Abstract

Establishing an early and accurate genetic diagnosis among patients with differences of sex development (DSD) is crucial in guiding the complex medical and psychosocial care they require. Genetic testing routinely utilized in clinical practice for this population is predicated upon physical exam findings and biochemical and endocrine profiling. This approach, however, is inefficient and unstandardized. Many patients with DSD, particularly those with 46,XY DSD, never receive a molecular genetic diagnosis. Rapid genome sequencing (rGS) is gaining momentum as a first‐tier diagnostic instrument in the evaluation of patients with DSD given its ability to provide greater diagnostic yield and timely results. We present the case of a patient with nonbinary genitalia and systemic findings for whom rGS identified a novel variant of the WT1 gene and resulted in a molecular diagnosis within two weeks of life. This timeframe of diagnosis for syndromic DSD is largely unprecedented at our institution. Rapid GS expedited mobilization of a multidisciplinary medical team; enabled early understanding of clinical trajectory; informed planning of medical and surgical interventions; and guided individualized psychosocial support provided to the family. This case highlights the potential of early rGS in transforming the evaluation and care of patients with DSD. [ABSTRACT FROM AUTHOR]

Published
2024
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31. Workflow for Management of Gonadal Neoplasm in Two Patients with Differences of Sex Development Enrolled in an Experimental Gonadal Tissue Cryopreservation Protocol

Author

Abdallah, Aalaa S, primary, Arva, Nicoleta C, additional, Finlayson, Courtney A, additional, Melin-Aldana, Hector, additional, Papadakis, Jaclyn L, additional, Rowell, Erin E, additional, Weisman, Allison Goetsch, additional, Whitehead, J, additional, Yerkes, Elizabeth B, additional, Yuodsnukis, Briahna, additional, Johnson, Emilie K, additional, and Laronda, Monica M, additional

Published
2023
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34. MP52-03 IMPACT OF GENTAMICIN INTRAVESICAL INSTILLATION ON SYMPTOMATIC UTI FREQUENCY AND BACTERIAL RESISTANCE IN ADULT NEUROGENIC BLADDER PATIENTS

Author

Adams, Elizabeth J., primary, Stanisic, Alexander V., additional, Meyer, Theresa, additional, Jang, Angie, additional, Berkowitz, Rachel, additional, Rosoklija, Ilina, additional, Yerkes, Elizabeth, additional, Chu, David, additional, Williams, Janna L., additional, Bowen, Diana K., additional, and Kielb, Stephanie J., additional

Published
2023
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37. The Association of Health Literacy with Health-Related Quality of Life in Youth and Young Adults with Spina Bifida: A Cross-Sectional Study

Author

Rague, James T., primary, Kim, Soojin, additional, Hirsch, Josephine, additional, Meyer, Theresa, additional, Rosoklija, Ilina, additional, Larson, Jill E., additional, Swaroop, Vineeta T., additional, Bowman, Robin, additional, Bowen, Diana K., additional, Cheng, Earl Y., additional, Gordon, Elisa J., additional, Holmbeck, Grayson, additional, Chu, Daniel I., additional, Isakova, Tamara, additional, Yerkes, Elizabeth B., additional, and Chu, David I., additional

Published
2022
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42. Streamlining surgical trays for common pediatric urology Procedures: A quality improvement initiative

Author

Shaw, Allison, primary, Chan, Yvonne Y., additional, Arora, Hans C., additional, Aguilar, Jazmina B., additional, Schechter, Jamie, additional, Gong, Edward M., additional, Chu, David I., additional, Yerkes, Elizabeth B., additional, Matoka, Derek J., additional, Seager, Catherine M., additional, Bowen, Diana K., additional, Lindgren, Bruce W., additional, Liu, Dennis B., additional, Maizels, Max, additional, Cheng, Earl Y., additional, and Johnson, Emilie K., additional

Published
2022
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44. Variation in Definitions of Kidney Abnormality in Patients with Spina Bifida: A Systematic Scoping Review

Author

Rague, James T., primary, Lai, Jeremy D., additional, Murphy, Peggy, additional, Fawcett, Andrea, additional, Walton, Ryan, additional, Rosoklija, Ilina, additional, Bowen, Diana K., additional, Yerkes, Elizabeth B., additional, Cheng, Earl Y., additional, Hodgkins, Kavita S., additional, Routh, Jonathan C., additional, Isakova, Tamara, additional, and Chu, David I., additional

Published
2022
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45. Psychological Adjustment of Parents of Children Born with Atypical Genitalia 1 Year after Genitoplasty

Author

Ellens, Rebecca E.H., Bakula, Dana M., Mullins, Alexandria J., Scott Reyes, Kristy J., Austin, Paul, Baskin, Laurence, Bernabé, Kerlly, Cheng, Earl Y., Fried, Allyson, Frimberger, Dominic, Galan, Denise, Gonzalez, Lynette, Greenfield, Saul, Kolon, Thomas, Kropp, Bradley, Lakshmanan, Yegappan, Meyer, Sabrina, Meyer, Theresa, Mullins, Larry L., Nokoff, Natalie J., Palmer, Blake, Poppas, Dix, Paradis, Alethea, Yerkes, Elizabeth, Wisniewski, Amy B., and Wolfe-Christensen, Cortney

Published
2017
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50. Randomized trial of prophylactic antibiotics vs. placebo after midshaft-to-distal hypospadias repair: the PROPHY Study

Author

Faasse, Mark A., primary, Farhat, Walid A., additional, Rosoklija, Ilina, additional, Shannon, Rachel, additional, Odeh, Rakan I., additional, Yoshiba, Grace M., additional, Zu'bi, Fadi, additional, Balmert, Lauren C., additional, Liu, Dennis B., additional, Alyami, Fahad A., additional, Beaumont, Jennifer L., additional, Erickson, Daniel L., additional, Gong, Edward M., additional, Johnson, Emilie K., additional, Judd, Sandra, additional, Kaplan, William E., additional, Kaushal, Gagan, additional, Koyle, Martin A., additional, Lindgren, Bruce W., additional, Maizels, Max, additional, Marcus, Charles R., additional, McCarter, Kimberly L., additional, Meyer, Theresa, additional, Qureshi, Tarannum, additional, Saunders, Megan, additional, Thompson, Theresa, additional, Yerkes, Elizabeth B., additional, and Cheng, Earl Y., additional

Published
2022
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