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PURPOSE: Mixed gonadal dysgenesis is a difference of sex development that is often confused with other conditions. Individuals have a 45,X/46,XY karyotype. Gonads are characterized by a streak gonad and a dysgenetic testis at varying levels of descent. Persistent Müllerian structures are typical (eg, hemi-uterus). There is significant phenotypic heterogeneity of the internal and external genitalia that, together with different interpretations of the definition, have contributed to a poor understanding of the condition among pediatric urologists. Mixed gonadal dysgenesis is one manifestation of the 45,X/46,XY karyotype. 45,X/46,XY mosaicism can also be associated with typical female or male external genitalia. This review aims to clarify the mixed gonadal dysgenesis definition and to provide urologists with diagnostic and management considerations for affected individuals. MATERIALS AND METHODS: We searched 3 medical databases for articles related to mixed gonadal dysgenesis. Two hundred eighty-seven full-text abstracts and manuscripts were reviewed for content pertinent to: (1) clarifying the definition of mixed gonadal dysgenesis, and (2) describing the following related to the care of affected individuals: prenatal and neonatal evaluation and management, genital surgery, gonadal malignancy risk and management, fertility, gender dysphoria/incongruence, puberty and long-term outcomes, systemic comorbidities, and transitional care. RESULTS: Fifty articles were included. Key points and implications for each of the above topics were summarized. CONCLUSIONS: Mixed gonadal dysgenesis exists on a wide phenotypic spectrum and management considerations reflect this heterogeneity. Care for individuals with mixed gonadal dysgenesis is complex, and decisions should be made in a multidisciplinary setting with psychological support.
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PURPOSE: Our goal was to understand the general attitudes of pediatric urologists regarding the US News & World Report rankings for Best Children's Hospitals in Urology. MATERIALS AND METHODS: We performed a cross-sectional survey study distributed via email to active and candidate members of the Societies of Pediatric Urology from October 2022 to December 2022. This anonymous survey was iteratively developed to contain multiple choice questions gathering information on demographics, personal interaction with the rankings system, and about attitudes toward the rankings across various domains. RESULTS: Of the 515 members surveyed, 264 pediatric urologists responded to the survey for a response rate of 51%. There was representation from all sections of the AUA and across all age categories and practice models. Overall, of the respondents, 71% disagreed that the rankings had led to improvements in care and 75% disagreed that programs were reporting their data honestly. Additionally, 71% believed the rankings are inaccurate in reflecting patient outcomes. The majority (86%) of respondents stated they would support organized efforts to withdraw from the rankings. This was significantly different by ranking cohort, with 78% from top 10 programs endorsing withdrawal vs 89% from those programs not in the top 10. CONCLUSIONS: Our survey found that most pediatric urologists would support efforts to withdraw from participating in the rankings and believe that programs are dishonest in reporting their data. The majority also do not believe a survey can adequately distinguish between programs. This highlights a clear need for a critical reevaluation of the rankings.
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OBJECTIVE: The present study aimed to identify distinct trajectories of parental illness uncertainty among parents of children born with atypical genital appearance due to a difference of sex development over the first year following diagnosis. It was hypothesized that four trajectory classes would emerge, including "low stable," "high stable," "decreasing," and "increasing" classes, and that select demographic, familial, and medical factors would predict these classes. METHODS: Participants included 56 mothers and 43 fathers of 57 children born with moderate to severe genital atypia. Participants were recruited from eleven specialty clinics across the U.S. Growth mixture modeling (GMM) approaches, controlling for parent dyad clustering, were conducted to examine classes of parental illness uncertainty ratings over time. RESULTS: A three-class GMM was identified as the best-fitting model. The three classes were interpreted as "moderate stable" (56.8%), "low stable" (33.0%), and "declining" (10.3%). Findings suggest possible diagnostic differences across trajectories. CONCLUSIONS: Findings highlight the nature of parents' perceptions of ambiguity and uncertainty about their child's diagnosis and treatment the year following their child's birth/diagnosis. Future research is needed to better understand how these trajectories might shift over the course of the child's development. Results support the development of tailored, evidence-based interventions to address coping with uncertainty among families raising a child with chronic health needs.
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Padres , Humanos , Masculino , Incertidumbre , Femenino , Padres/psicología , Adulto , Preescolar , Niño , Lactante , Trastornos del Desarrollo Sexual/psicologíaRESUMEN
PURPOSE: We sought to assess associations between health-related quality of life (QOL), bladder-related QOL, bladder symptoms, and bladder catheterization route among adolescents and young adults with spina bifida. MATERIALS AND METHODS: Clinical questionnaires administered to individuals ≥ 12 years old requiring catheterization between June 2019 to March 2020 in a spina bifida center were retrospectively analyzed. Questionnaires were completed in English or Spanish independently or with caregiver assistance. Medical records were reviewed for demographic and clinical characteristics. Primary exposure was catheterization route (urethra or channel). Primary outcome was health-related QOL, measured by Patient-Reported Outcomes Measurement Information System Pediatric Global Health 7 (PGH-7). Secondary outcomes were bladder-related QOL and bladder symptoms, measured by Neurogenic Bladder Symptom Score (NBSS). Nested, multivariable linear regression models assessed associations between catheterization route and questionnaire scores. RESULTS: Of 162 patients requiring catheterization, 146 completed both the PGH-7 and NBSS and were included. Seventy-three percent were catheterized via urethra and 27% via channel. Median age was 17.5 years (range 12-31), 58% of patients were female, and 80% had myelomeningocele. Urinary incontinence was more common among those who catheterized via urethra (60%) compared to channel (33%). On adjusted analyses, catheterization route was not significantly associated with PGH-7 or NBSS bladder-related QOL scores. More bladder symptoms were associated with worse bladder-related QOL. Patients who catheterized via channel had fewer bladder symptoms than those who catheterized via urethra. CONCLUSIONS: Catheterization route was not significantly associated with QOL. Though catheterization via channel was associated with fewer bladder symptoms, only degree of current bladder symptoms was significantly associated with bladder-related QOL.
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Calidad de Vida , Disrafia Espinal , Vejiga Urinaria Neurogénica , Cateterismo Urinario , Humanos , Adolescente , Femenino , Masculino , Disrafia Espinal/complicaciones , Estudios Retrospectivos , Adulto Joven , Adulto , Niño , Vejiga Urinaria Neurogénica/etiología , Vejiga Urinaria Neurogénica/terapia , Uretra , Encuestas y Cuestionarios , Medición de Resultados Informados por el PacienteRESUMEN
OBJECTIVE: Illness intrusiveness refers to the subjective cognitive appraisal of a chronic health condition interfering in daily, valued activities and may be highly relevant for parents of children with atypical genital appearance due to differences of sex development (DSD). However, a measure of illness intrusiveness has not been validated for this population. The current study aimed to evaluate the factor structure of the Illness Intrusiveness Scale for Parents (IIS-P) and examine convergent validity. METHODS: Participants included 102 parents (Mage = 33.39 years, SD = 6.48; 58% mothers) of 65 children (<2 years old) diagnosed with DSD participating in a larger, longitudinal study. Parents completed the IIS-P as well as self-report measures of stigma, and anxious and depressive symptoms. An exploratory factor analysis (EFA) was conducted. RESULTS: EFA results supported a 1-factor intrusiveness solution (α = .93), as well as a 2-factor solution measuring intrusiveness on daily living (α = .92) and community connectedness (α = .85). The 1-factor solution and both factors of the 2-factor solution demonstrated significant convergent validity with stigma as well as anxious and depressive symptoms. CONCLUSIONS: Support emerged for both 1- and 2-factor solutions of the IIS-P in parents of children with DSD. The decision to evaluate illness intrusiveness as a total score or to examine the subscales of daily living and community connectedness should be tailored to the unique aims of researchers and clinicians. Future research should conduct a confirmatory factor analysis with both 1- and 2-factor models with larger, more diverse samples of caregivers.
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Trastornos del Desarrollo Sexual , Padres , Humanos , Masculino , Femenino , Padres/psicología , Adulto , Análisis Factorial , Trastornos del Desarrollo Sexual/psicología , Estudios Longitudinales , Estigma Social , Depresión/psicología , Psicometría , Ansiedad/psicología , Preescolar , Lactante , Reproducibilidad de los ResultadosRESUMEN
Partial cystectomy procedures for urinary bladder-related dysfunction involve long recovery periods, during which urodynamic studies (UDS) intermittently assess lower urinary tract function. However, UDS are not patient-friendly, they exhibit user-to-user variability, and they amount to snapshots in time, limiting the ability to collect continuous, longitudinal data. These procedures also pose the risk of catheter-associated urinary tract infections, which can progress to ascending pyelonephritis due to prolonged lower tract manipulation in high-risk patients. Here, we introduce a fully bladder-implantable platform that allows for continuous, real-time measurements of changes in mechanical strain associated with bladder filling and emptying via wireless telemetry, including a wireless bioresorbable strain gauge validated in a benchtop partial cystectomy model. We demonstrate that this system can reproducibly measure real-time changes in a rodent model up to 30 d postimplantation with minimal foreign body response. Studies in a nonhuman primate partial cystectomy model demonstrate concordance of pressure measurements up to 8 wk compared with traditional UDS. These results suggest that our system can be used as a suitable alternative to UDS for long-term postoperative bladder recovery monitoring.
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Vejiga Urinaria , Infecciones Urinarias , Animales , Humanos , Vejiga Urinaria/cirugía , Urodinámica/fisiología , Prótesis e Implantes , CistectomíaRESUMEN
BACKGROUND: In the last 15 years, the care provided for individuals born with differences of sex development (DSD) has evolved, with a strong emphasis on interdisciplinary approaches. However, these developments have not convinced some stakeholders to embrace the current model of care. This care model has also paid insufficient attention to socio-cultural differences and global inequalities. SUMMARY: This article is an opinion statement, resulting from in-depth discussions and reflection among clinicians, patients, and family support organizations based in the US and Europe, where we seek areas of common ground and try to identify opportunities to further develop resources. The product of these conversations is summarized in 10 panels. The corresponding sections provide additional discussion on some of the panel items. KEY MESSAGES: Participants identified areas of agreement and gained a deeper understanding of the reasons behind disagreements on certain matters and identified the necessary steps to foster future consensus. We offer preliminary recommendations for guiding clinical management and resource allocation. By promoting a broader consensus, we aim to enhance the quality of care and well-being for individuals of all ages who have a DSD.
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To date, there are no efficacious translational solutions for end-stage urinary bladder dysfunction. Current surgical strategies, including urinary diversion and bladder augmentation enterocystoplasty (BAE), utilize autologous intestinal segments (e.g. ileum) to increase bladder capacity to protect renal function. Considered the standard of care, BAE is fraught with numerous short- and long-term clinical complications. Previous clinical trials employing tissue engineering approaches for bladder tissue regeneration have also been unable to translate bench-top findings into clinical practice. Major obstacles still persist that need to be overcome in order to advance tissue-engineered products into the clinical arena. These include scaffold/bladder incongruencies, the acquisition and utility of appropriate cells for anatomic and physiologic tissue recapitulation, and the choice of an appropriate animal model for testing. In this study, we demonstrate that the elastomeric, bladder biomechanocompatible poly(1,8-octamethylene-citrate-co-octanol) (PRS; synthetic) scaffold coseeded with autologous bone marrow-derived mesenchymal stem cells and CD34+ hematopoietic stem/progenitor cells support robust long-term, functional bladder tissue regeneration within the context of a clinically relevant baboon bladder augmentation model simulating bladder trauma. Partially cystectomized baboons were independently augmented with either autologous ileum or stem-cell-seeded small-intestinal submucosa (SIS; a commercially available biological scaffold) or PRS grafts. Stem-cell synergism promoted functional trilayer bladder tissue regeneration, including whole-graft neurovascularization, in both cell-seeded grafts. However, PRS-augmented animals demonstrated fewer clinical complications and more advantageous tissue characterization metrics compared to ileum and SIS-augmented animals. Two-year study data demonstrate that PRS/stem-cell-seeded grafts drive bladder tissue regeneration and are a suitable alternative to BAE.
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PURPOSE: Various techniques for neovaginal construction have been employed in the pediatric and adult populations, including the use of intestinal segments, buccal mucosal grafts, and skin grafts. Small intestinal submucosa (SIS) extracellular matrix grafts have been described as a viable alternative, though prior experience is limited. Our purpose was to assess operative characteristics and patient outcomes with neovaginal construction using SIS grafts. METHODS: Thirteen patients underwent vaginoplasty with acellular porcine SIS grafts at our institution between 2018 and 2022. Operative and clinical data, postoperative mold management, vaginal dilating length, and complications were reviewed. RESULTS: Age at time of repair ranged from 13 to 30 years (median 19 years). Patient diagnosis included cloacal anomalies (n = 4), Mayer-Rokitansky-Küster-Hauser syndrome (n = 4), isolated vaginal atresia with or without a transverse vaginal septum (n = 4), and vaginal rhabdomyosarcoma requiring partial vaginectomy (n = 1). Following dissection of the neovaginal space, a silicon mold wrapped with SIS graft was placed with retention sutures and removed on postoperative day 7. Median (IQR) operative time was 171 (118-192) minutes, estimated blood loss was 10 (5-20) mL, and length of stay was 2 (1-3) days. The follow-up period ranged from 3 to 47 months (median 9 months). Two patients developed postoperative vaginal stenosis that resolved with dilation under anesthesia. Mean vaginal length on latest follow-up was 8.97 cm. All thirteen patients had successful engraftment and progressed to performing self-dilations or initiating intercourse to maintain patency. There were no cases of graft reaction or graft extrusion. CONCLUSIONS: We conclude that acellular small intestinal submucosa grafts are effective and safe alternatives for mold coverage in neovaginal construction. Our experience demonstrates minimal perioperative morbidity, early mold removal, and progression to successful dilation with maintenance of a functional vaginal length. Future study on sexual outcomes, patient satisfaction, and comparison against alternative techniques has been initiated. LEVEL OF EVIDENCE: IV. TYPE OF STUDY: Retrospective Study.
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Trastornos del Desarrollo Sexual 46, XX , Anomalías Congénitas , Procedimientos de Cirugía Plástica , Adulto , Humanos , Animales , Porcinos , Femenino , Niño , Adolescente , Adulto Joven , Vagina/cirugía , Vagina/anomalías , Estudios Retrospectivos , Constricción Patológica/cirugía , Satisfacción del Paciente , Conductos Paramesonéfricos/cirugía , Conductos Paramesonéfricos/anomalías , Trastornos del Desarrollo Sexual 46, XX/cirugía , Anomalías Congénitas/cirugía , Resultado del TratamientoRESUMEN
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.
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Comunicación en Salud , Salud Sexual , Disrafia Espinal , Adulto Joven , Humanos , Masculino , Lactante , Preescolar , Conducta Sexual , Disrafia Espinal/complicacionesRESUMEN
OBJECTIVE: To compare differences in bowel-specific quality of life (QOL), overall qQOL, and neurogenic bowel dysfunction (NBD) severity by bowel management program in patients with spina bifida (SB). METHODS: We performed a retrospective cross-sectional study of patients ≥12 years old at our multidisciplinary SB center who completed both a modified Peristeen NBD questionnaire (assessing bowel symptom severity and bowel-specific QOL) and the Patient-Reported Outcomes Measurement Information System Pediatric Global Health questionnaire (assessing overall QOL). Nested, multivariable models were fit for associations between outcomes and bowel management program (enemas, conservative management, and none). RESULTS: A total of 173 patients, 56.1% female and 64.6% with myelomeningocele, were included in our analysis. Median age was 18.2 years old. Patients reported using enemas (n = 42), conservative management (n = 63), and no bowel program (n = 68). When adjusting for covariates, there was no significant association between bowel-specific QOL nor overall QOL across bowel management programs. However, the use of conservative management compared to enemas was associated with worse bowel symptoms severity (adjusted beta=2.58, 95%CI=[0.09,5.06]). Additionally, greater bowel symptom severity was significantly associated with lower overall QOL (adjusted beta=-0.33, 95%CI=[-0.57,-0.10]). CONCLUSION: NBD symptom severity in SB is more strongly associated with QOL than the individual bowel program being utilized. Our findings suggest that different degrees of NBD require different invasiveness of bowel programs, but it is the outcome of the bowel management program and not the specific program itself that is most associated with QOL.
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Intestino Neurogénico , Disrafia Espinal , Humanos , Femenino , Niño , Adolescente , Masculino , Intestino Neurogénico/etiología , Intestino Neurogénico/terapia , Calidad de Vida , Estudios Transversales , Estudios Retrospectivos , Disrafia Espinal/complicacionesRESUMEN
INTRODUCTION: Management of obstructing ureterocele often includes endoscopic transurethral incision (TUI) that can be challenging secondary to uncertainty in anatomic landmarks with risk of serious complications. To this end, we innovated a technique using predictable landmarks that begins endoscopic incision at the ureterocele orifice and extends retrograde proximal to the bladder neck (Figure). OBJECTIVE: With over 15 years of experience in performing this retrograde incision from orifice (RIO) technique, we aimed to examine post-operative outcomes and risk of surgical failure after RIO compared to traditional TUI techniques for ureteroceles. We hypothesized that clinical outcomes after RIO would be superior to traditional endoscopic approaches to decompression of obstructing ureterocele in infants. STUDY DESIGN: A retrospective study of patients ≤12 months old who underwent TUI ureterocele at our institution between 2007 and -2021 was conducted. Pre-, intra- and post-operative characteristics were compared between patients who underwent RIO vs non-RIO TUI. Primary outcome was post-incision febrile urinary tract infection (fUTI). Secondary outcome was a composite failure measure of fUTI, secondary surgery, de novo bladder outlet obstruction, or vesicoureteral reflux. Multivariable Cox proportional hazard models were fitted to compare the time-to-event risk of primary and secondary outcomes between groups. RESULTS: Ninety patients with 92 ureteroceles were included (49 RIO, 43 non-RIO). Median follow-up from TUI was 33 months. RIO had a shorter median operative duration (27 vs 35 min, p = 0.021). Primary and secondary outcomes were similar between groups (fUTI: 29% RIO vs 19% non-RIO, p = 0.27; composite failure 54% RIO vs 69% non-RIO, p = 0.15). In multivariable Cox proportional hazard models, there was no significant difference in risk of fUTI (RIO aHR 0.98, 95% CI 0.38-2.54, p = 0.97) or composite failure (RIO aHR 0.80, 95% CI 0.45-1.44, p = 0.46) between TUI techniques. DISCUSSION: RIO technique for TUI ureterocele is attractive in that it uses predictable anatomic landmarks making it simple to perform. In analyzing this 15-year institutional experience of TUI ureterocele, RIO showed similar success to non-RIO endoscopic incisions. This study is a retrospective, non-randomized, single-institutional study over 15 years and is therefore subject to change in surgeon practice over time and variable practices between providers. CONCLUSIONS: Given comparable success and durability over time to other TUI ureterocele techniques, and with the advantage of operator ease using consistent anatomic landmarks, RIO is a worthy option for endoscopic ureterocele decompression.
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Cirujanos , Ureterocele , Lactante , Humanos , Estudios Retrospectivos , Ureterocele/cirugía , Endoscopía , Periodo PosoperatorioRESUMEN
OBJECTIVE: Differences/disorders of sex development (DSDs) are rare, congenital conditions involving discordance between chromosomes, gonads, and phenotypic sex and are often diagnosed in infancy. A key subset of parents of children newly diagnosed with a DSD experience clinically elevated distress. The present study examines the relationship between perinatal factors (i.e., gestational age, delivery method) and trajectories of parental adjustment. METHODS: Parent participants (mothers = 37; fathers = 27) completed measures at baseline, 6- and 12-month follow-up. Multilevel linear regression controlled for clustering of the data at three levels (i.e., time point, parent, and family) and examined the relationship between perinatal factors and trajectories of depressive and anxious symptoms. Two-way interactions between perinatal factors and parent type were evaluated. RESULTS: Overall depressive and anxious symptoms decreased over time. There were significant interactions between gestational age and parent type for depressive and anxious symptoms, with younger gestational age having a stronger negative effect on mothers vs. fathers. There was a significant interaction between time and gestational age for depressive symptoms, with 36 weeks' gestational age demonstrating a higher overall trajectory of depressive symptoms across time compared to 38 and 40 weeks. Findings for the delivery method were not significant. CONCLUSIONS: Findings uniquely demonstrated younger gestational age was associated with increased depressive symptoms, particularly for mothers compared to fathers. Thus, a more premature birth may predispose parents of infants with DSD to distress. Psychosocial providers should contextualize early diagnosis-related discussions within stressful birth experiences when providing support.
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Madres , Padres , Femenino , Lactante , Niño , Embarazo , Humanos , Masculino , Padres/psicología , Madres/psicología , Edad Gestacional , Desarrollo Sexual , Genitales , Padre/psicología , Depresión/psicologíaRESUMEN
Differences of sex development (DSD) encompass a broad range of conditions in which the development of chromosomal, gonadal, or anatomic sex is not typically male or female. Terms used to describe DSD are controversial, and continuously evolving. An individualized, multidisciplinary approach is key to both the diagnosis and management of DSD. Recent advances in DSD care include expanded genetic testing options, a more nuanced approach to gonadal management, and an emphasis on shared decision-making, particularly related to external genital surgical procedures. The timing of DSD surgery is currently being questioned and debated in both medical and advocacy/activism spheres.
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Toma de Decisiones Conjunta , Pruebas Genéticas , Humanos , Femenino , MasculinoRESUMEN
PURPOSE: We evaluate the applicability of the International Index of Erectile Function in young men with spina bifida and identify spina bifida-specific sexual experiences not captured by this measure. MATERIALS AND METHODS: Semistructured interviews were conducted between February 2021 and May 2021 with men ≥18 years of age with spina bifida. The International Index of Erectile Function was completed by participants, and perspectives on its applicability were discussed. Participant experiences and perspectives around sexual health were discussed to identify aspects of the sexual experience not well captured by the International Index of Erectile Function. Demographic and clinical characteristics were obtained from a patient survey and chart review. Conventional content analysis framework was used for transcript coding. RESULTS: Of 30 eligible patients approached, 20 participated. Median age was 22.5 years (range 18-29), and 80% had myelomeningocele. Most identified as heterosexual (17/20, 85%), were not in a relationship (14/20, 70%), and were not currently sexually active (13/20, 65%). Some perceived the International Index of Erectile Function as applicable, while others reported it was not, as they do not define themselves as sexually active. Aspects of the sexual experience not captured by the International Index of Erectile Function included (1) lack of control over sexual function, (2) poor lower body sensation, (3) urinary incontinence, (4) spina bifida-specific physical limitations, and (5) psychosocial barriers. Participant suggestions for improving the International Index of Erectile Function to increase its applicability were identified. CONCLUSIONS: While many perceived the International Index of Erectile Function as applicable, the measure inadequately captures the diverse sexual experiences of young men with spina bifida. Disease-specific instruments to evaluate sexual health are needed in this population.
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Disfunción Eréctil , Meningomielocele , Salud Sexual , Disrafia Espinal , Masculino , Humanos , Adolescente , Adulto Joven , Adulto , Disfunción Eréctil/diagnóstico , Disfunción Eréctil/etiología , Conducta Sexual , Disrafia Espinal/complicacionesRESUMEN
OBJECTIVE: Illness uncertainty is a salient experience for caregivers of children with disorders/differences of sex development (DSD) presenting with ambiguous genitalia; however, no validated measure of illness uncertainty exists for this unique population. Thus, the current study aimed to preliminarily identify the factor structure of the Parental Perception of Uncertainty Scale (PPUS) in caregivers of children with DSD presenting with ambiguous genitalia and examine the convergent validity of the PPUS. METHODS: Participants included 115 caregivers (Mage = 32.12 years, SD = 6.54; 57% mothers) of children (<2-year-olds) diagnosed with DSD participating in a larger, longitudinal study. Caregivers completed the PPUS as well as self-report measures of anxious, depressive, and posttraumatic stress symptoms. An exploratory factor analysis was conducted. RESULTS: Exploratory factor analysis results indicated that a 23-item 1-factor solution was the most parsimonious and theoretically sound factor structure (α = 0.92). Convergent validity analyses demonstrated further support for the use of the 23-item 1-factor solution over the original PPUS factor structure. CONCLUSION: These results demonstrate the preliminary clinical and research utility of the PPUS with caregivers of children with DSD presenting with ambiguous genitalia. The PPUS may benefit from further refinement through qualitative research and item adaptation to capture uncertainties unique to DSD presenting with ambiguous genitalia. In addition, future research should replicate the proposed factor structure using confirmatory factor analysis with a separate, larger sample of caregivers of children with DSD to confirm the factor structure.
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Trastornos del Desarrollo Sexual , Femenino , Humanos , Niño , Preescolar , Incertidumbre , Estudios Longitudinales , Trastornos del Desarrollo Sexual/diagnóstico , Ansiedad/diagnóstico , PadresRESUMEN
OBJECTIVE: Differences of sex development (DSD) are congenital conditions in which individuals are discordant in their chromosomal, phenotypic, and/or gonadal sex. Treatment of DSD can involve surgical intervention to external genitalia to make anatomy seem male-typical (i.e., male genitoplasty). Caregiver-perceived decisional regret regarding young boys with DSD was explored quantitatively and qualitatively. METHOD: Participants (N = 39) were caregivers of infants (N = 23) diagnosed with DSD (mean age = 8.9 months, standard deviation = 5.9 months) reared male participating in a longitudinal investigation of psychosocial outcomes. Qualitative data were collected at 6 to 12 months after baseline enrollment to evaluate caregiver decision-making corresponding to levels of regret concerning their child's treatment. All but one infant received genital surgery before caregiver reporting on their decisional regret. Quantitative exploratory analyses evaluated longitudinal predictors of decisional regret at 6 to 12 months. RESULTS: When completing a write-in item inquiring about decision-making and potential regret, most caregivers (n = 16, 76%) reported that their child's genital surgery was their first medical decision. Two caregivers referenced gender assignment as a decision point. One-third of caregivers reported some level of decisional regret (33%), with 67% reporting no regret. No hypothesized predictors of decisional regret were statistically significant. CONCLUSION: Many caregivers of infants with DSD reared male view genital surgery as a first health care decision. Approximately one-third of caregivers reported some level of decisional regret. Further research is warranted to explore long-term decisional regret; it will be particularly important to investigate the decisional regret of patients with DSD.