24 results on '"Kolon T"'
Search Results
2. Prospective assessment of cosmesis before and after genital surgery
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Nokoff, N.J., Palmer, B., Mullins, A.J., Aston, C.E., Austin, P., Baskin, L., Bernabé, K., Chan, Y.-M., Cheng, E.Y., Diamond, D.A., Fried, A., Frimberger, D., Galan, D., Gonzalez, L., Greenfield, S., Kolon, T., Kropp, B., Lakshmanan, Y., Meyer, S., Meyer, T., Mullins, L.L., Paradis, A., Poppas, D., Reddy, P., Schulte, M., Reyes, K.J. Scott, Swartz, J.M., Wolfe-Christensen, C., Yerkes, E., and Wisniewski, A.B.
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- 2017
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3. Conservative management of gynecomastia in Peutz-Jeghers syndrome: Case series and review of the literature.
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Skafida M, Duvall MM, Zelley K, Baldino SE, Brodeur GM, Kolon T, Mostoufi-Moab S, and MacFarland SP
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- Adolescent, Child, Child, Preschool, Humans, Male, Conservative Treatment, Gynecomastia therapy, Gynecomastia etiology, Peutz-Jeghers Syndrome complications, Peutz-Jeghers Syndrome therapy, Peutz-Jeghers Syndrome pathology, Peutz-Jeghers Syndrome genetics
- Abstract
Peutz-Jeghers syndrome (PJS) is a childhood-onset cancer predisposition syndrome that is associated with oral freckling and gastrointestinal polyposis. Male patients with PJS are at risk for large-cell calcifying Sertoli cell tumors in childhood. These tumors are estrogen-producing and can cause symptoms of precocious puberty, gynecomastia, and growth acceleration. Here we discuss our experience with spontaneous resolution or stabilization of breast enlargement without medical intervention in three patients with PJS and gynecomastia. These cases indicate that a watchful waiting approach can be considered in the management of gynecomastia in male children with PJS., (© 2024 The Author(s). Pediatric Blood & Cancer published by Wiley Periodicals LLC.)
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- 2024
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4. Reply by Authors.
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Godlewski KF, Mittal S, Hyacinthe N, Fischer K, Weaver J, Van Batavia J, Weiss D, Srinivasan A, Shukla A, Zderic S, Kolon T, Zaontz M, and Long C
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- 2023
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5. Does Preoperative Testosterone Administration Decrease Complications in Distal Hypospadias Repair With Urethroplasty?
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Godlewski KF, Mittal S, Hyacinthe N, Fischer K, Weaver J, Van Batavia J, Weiss D, Srinivasan A, Shukla A, Zderic S, Kolon T, Zaontz M, and Long C
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- Male, Humans, Child, Infant, Testosterone, Urethra surgery, Postoperative Complications epidemiology, Postoperative Complications prevention & control, Postoperative Complications etiology, Retrospective Studies, Treatment Outcome, Urologic Surgical Procedures, Male adverse effects, Urologic Surgical Procedures, Male methods, Hypospadias surgery, Hypospadias complications, Plastic Surgery Procedures adverse effects
- Abstract
Purpose: Testosterone administration prior to hypospadias repair is common practice among pediatric urologists; however, its impact on surgical outcomes remains controversial. We hypothesize that testosterone administration prior to distal hypospadias repair with urethroplasty significantly decreases postoperative complications., Materials and Methods: We queried our hypospadias database for primary distal hypospadias repairs with urethroplasty from 2015 to 2021. Patients undergoing repair without urethroplasty were excluded. We collected information on patient age, procedure type, testosterone administration status, initial visit and intraoperative glans width, urethroplasty length, and postoperative complications. To determine the role of testosterone administration on incidence of complications, a logistic regression adjusting for initial visit glans width, urethroplasty length, and age was performed., Results: A total of 368 patients underwent distal hypospadias repair with urethroplasty. One hundred thirty-three patients received testosterone and 235 did not. Initial visit glans width was significantly larger in the no-testosterone vs testosterone group (14.5 mm vs 13.1 mm, P = .001). Testosterone patients had significantly larger glans width at the time of surgery (17.1 mm vs 14.6 mm [no-testosterone group], P = .001). On multivariable logistic regression analysis after controlling for age at surgery, preoperative glans width, testosterone status, and urethroplasty length, testosterone administration did show significant association with reduced odds of postoperative complications (OR 0.4, P = .039)., Conclusions: This retrospective review of patients shows that on multivariable analysis there is significant association between testosterone administration and decreased incidence of complications in patients undergoing distal hypospadias repair with urethroplasty. Future studies on testosterone administration should focus on specific cohorts of patients with hypospadias as benefits of testosterone may be more evident in some subgroups than others.
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- 2023
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6. Deferring gonadectomy in patients with turner syndrome with a genetic Y component is not a safe practice.
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Mittal S, Weaver J, Aghababian A, Edwins R, Godlewski K, Fischer K, Siu S, Gruccio D, Van Batavia J, Srinivasan A, Long C, Bamba V, Batra V, Bhatti T, and Kolon T
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- Female, Humans, Retrospective Studies, Chromosomes, Human, Y, Neoplasm Recurrence, Local, Castration, Turner Syndrome complications, Turner Syndrome diagnosis, Turner Syndrome genetics, Ovarian Neoplasms genetics, Ovarian Neoplasms surgery, Ovarian Neoplasms pathology, Gonadoblastoma genetics, Gonadoblastoma surgery
- Abstract
Introduction: Patients with Turner syndrome who harbor Y chromosome material are known to be at increased risk of developing germ cell neoplasms. The optimal timing to perform gonadectomy to reduce the risk of cancer development in these patients is not well defined. We present outcomes of Turner with a Y component (TSY) patients who underwent gonadectomy at our institution., Hypothesis/objective: We hypothesized that tumors could occur in a significant portion of TSY patients at any age and gonadectomy can be safely performed at diagnosis rather than deferred., Study Design: We performed an IRB-approved retrospective single center study in which we queried our institutions electronic health record to identify all patients with TSY who underwent gonadectomy at our institution from 2012 to 2021., Results: In our series of 18 consecutive TSY patients, a tumor was identified in 6 patients (33.3%): 4 (22.2%) with dysgerminoma (DG) [Fig. 1] and 2 (11.1%) with gonadoblastoma (GB)., Discussion: Our cohort of 18 consecutive TSY who underwent gonadectomy over a 9-year period is the largest published single site cohort to date. Additionally, our patient who was found to have GB at 40 days is to our knowledge the youngest TSY patient to be diagnosed with GB in the literature. This patient's remarkably early incidence of tumor occurrence illustrates the urgency of protective gonadectomy. Given the high incidence of tumor formation in this population and the minimal morbidity associated with gonadectomy, we do not recommend delaying gonadectomy in this population for any reason. Our study is vulnerable to selection bias and confounding innate to any retrospective study. There was variation with respect to the frequency and timing of pre-operative imaging as a strict preoperative imaging protocol with sequential studies was not in place at our institution. Additionally, we do not have a comparison cohort of patients who are being followed without operative intervention as all TSY patients at our institution have undergone gonadectomy., Conclusion: TSY patients cannot be safely observed for tumor formation based on clinical factors such as imaging or age. Gonadectomy is safe with a low complication rate and without tumor recurrence during three-year follow-up. We continue to recommend bilateral gonadectomy in this patient population at the time of diagnosis., (Copyright © 2022 Journal of Pediatric Urology Company. Published by Elsevier Ltd. All rights reserved.)
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- 2023
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7. Decisional Regret Among Caregivers of Infants with Differences of Sex Development Reared as Male.
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Fisher RS, Datillo TM, Baskin LS, Cheng EY, Kolon T, Nokoff NJ, Poppas DP, Reyes KJ, Mullins LL, and Wisniewski AB
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- Child, Humans, Male, Infant, Emotions, Sexual Development, Decision Making, Caregivers psychology
- Abstract
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., Competing Interests: Disclosure: The authors declare no conflict of interest., (Copyright © 2022 Wolters Kluwer Health, Inc. All rights reserved.)
- Published
- 2023
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8. Exploring Factors Associated with Decisions about Feminizing Genitoplasty in Differences of Sex Development.
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Kremen J, Harris RM, Aston CE, Perez M, Austin PF, Baskin L, Cheng EY, Fried A, Kolon T, Kropp B, Lakshmanan Y, Nokoff NJ, Palmer B, Paradis A, Poppas D, Reyes KJS, Wolfe-Christensen C, Diamond DA, Tishelman AC, Mullins LL, Wisniewski AB, and Chan YM
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- Child, Female, Humans, Infant, Gynecologic Surgical Procedures, Parents psychology, Sexual Development, Virilism, Longitudinal Studies, Adrenal Hyperplasia, Congenital psychology, Plastic Surgery Procedures
- Abstract
Study Objective: Infants with genital development considered atypical for assigned female sex may undergo feminizing genitoplasty (clitoroplasty and/or vaginoplasty) in early life. We sought to identify factors associated with parent/caregiver decisions regarding genitoplasty for their children with genital virilization., Design: Longitudinal, observational study SETTING: Twelve pediatric centers in the United States with multidisciplinary differences/disorders of sex development clinics, 2015-2020 PARTICIPANTS: Children under 2 years old with genital appearance atypical for female sex of rearing and their parents/caregivers INTERVENTIONS/OUTCOME MEASURES: Data on the child's diagnosis and anatomic characteristics before surgery were extracted from the medical record. Parents/caregivers completed questionnaires on psychosocial distress, experience of uncertainty, cosmetic appearance of their child's genitalia, and demographic characteristics. Urologists rated cosmetic appearance. For 58 patients from the study cohort with genital virilization being raised as girls or gender-neutral, we compared these data across 3 groups based on the child's subsequent surgical intervention: (i) no surgery (n = 5), (ii) vaginoplasty without clitoroplasty (V-only) (n = 15), and (iii) vaginoplasty and clitoroplasty (V+C) (n = 38)., Results: Fathers' and urologists' ratings of genital appearance were more favorable in the no-surgery group than in the V-only and V+C groups. Clitorophallic length was greater in the V+C group compared with the V-only group, with substantial overlap between groups. Mothers' depressive and anxious symptoms were lower in the no-surgery group compared with the V-only and V+C groups., Conclusions: Surgical decisions were associated with fathers' and urologists' ratings of genital appearance, the child's anatomic characteristics, and mothers' depressive and anxious symptoms. Further research on surgical decision-making is needed to inform counseling practices., (Copyright © 2022. Published by Elsevier Inc.)
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- 2022
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9. Precocious Puberty in a Boy With Bilateral Leydig Cell Tumors due to a Somatic Gain-of-Function LHCGR Variant.
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Flippo C, Kolli V, Andrew M, Berger S, Bhatti T, Boyce AM, Casella D, Collins MT, Délot E, Devaney J, Hewitt SM, Kolon T, Mallappa A, White PC, Merke DP, and Dauber A
- Abstract
Context: Autosomal dominant and rarely de novo gain-of-function variants in the LHCGR gene are associated with precocious male puberty, while somatic LHCGR variants have been found in isolated Leydig cell adenomas and Leydig cell hyperplasia. Bilateral diffuse Leydig cell tumor formation in peripheral precocious male puberty has not been reported., Case Description: We present a boy with gonadotropin-independent precocious puberty and rapid virilization beginning in infancy resistant to standard therapy. Treatment with abiraterone in addition to letrozole and bicalutamide proved effective. Bilateral diffuse Leydig cell tumors were identified at age 5 years., Results: Whole-genome sequencing of tumor and blood samples was performed. The patient was confirmed to have bilateral, diffuse Leydig cell tumors harboring the somatic, gain-of-function p.Asp578His variant in the LHCGR gene. Digital droplet polymerase chain reaction of the LHCGR variant performed in tumor and blood samples detected low levels of this same variant in the blood., Conclusion: We report a young boy with severe gonadotropin-independent precocious puberty beginning in infancy who developed bilateral diffuse Leydig cell tumors at age 5 years due to a somatic gain-of-function p.Asp578His variant in LHCGR . The gain-of-function nature of the LHCGR variant and the developmental timing of the somatic mutation likely play a role in the risk of tumor formation. Abiraterone (a CYP17A1 inhibitor), in combination with an antiandrogen, aromatase inhibitor, and glucocorticoid, appears to be an effective therapy for severe peripheral precocious puberty in boys., (Published by Oxford University Press on behalf of the Endocrine Society 2022.)
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- 2022
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10. Trends in opioid and nonsteroidal anti-inflammatory (NSAID) usage in children undergoing common urinary tract reconstruction: A large, single-institutional analysis.
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Mittal S, Eftekharzadeh S, Aghababian A, Shah J, Fischer K, Weaver J, Tan C, Plachter N, Long C, Weiss D, Zaontz M, Kolon T, Zderic S, Canning D, Van Batavia J, Shukla A, and Srinivasan A
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- Humans, Child, Infant, Child, Preschool, Urologic Surgical Procedures methods, Anti-Inflammatory Agents, Non-Steroidal therapeutic use, Pain, Retrospective Studies, Analgesics, Opioid therapeutic use, Ureter surgery
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Introduction and Objective: Opioid stewardship is recognized as a critical clinical priority. We previously reported marked reductions in narcotic administration after implementation of an opioid reduction protocol for pediatric ambulatory urologic surgery. We hypothesize that a decrease in post-operative and discharge opioid administration will not increase short-term adverse events., Study Design: All pediatric patients undergoing open or robot-assisted laparoscopic pyeloplasty or ureteral reimplantation between 2015 and 2019 were included. Patients' demographics, opioid and NSAID administration, urology or pain-related emergency department (ED) visits, readmissions, and reoperations within 30 days of surgery, were aggregated., Results: 438 patients, with a median age of 3.5 years (IQR 1.5-8.3) at the time of surgery, met the inclusion criteria. Annual rates of inpatient opioid administration and prescriptions decreased significantly over the study period, while rates of intra-operative, inpatient, and prescribed NSAIDs significantly increased. There was no significant difference in the occurrence of ED visits, readmissions, or reoperations within 30 days of surgery between patients who received an opioid prescription and those who did not. Multivariate regression showed that patients who did not receive an opioid prescription at discharge were found to be at a lower risk for unplanned encounters including ED visits, readmissions, or reoperations (OR:0.5, 95%CI: 0.2-0.9, p = 0.04)., Discussion: The present study shows the decreasing trend in inpatient opioid administration and opioid prescription after discharge, when accompanied by an increase NSAID administration, does not result in a significant change in rates of unplanned encounters and complications, similar to results from previous studies on non-urological and ambulatory urological surgeries., Conclusions: Non-opioid pain control after major pediatric urologic reconstruction is safe and effective. We found that a reduction in opioid administration can be associated with a reduced risk of unplanned ED visits, readmissions, or reoperations. Further investigations are required to corroborate this finding., Competing Interests: Conflict of interest None., (Copyright © 2022. Published by Elsevier Ltd.)
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- 2022
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11. Office Based Pediatric Urologic Procedures: A Safe and Effective Alternative to Interventions Under Anesthesia.
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Aghababian A, Mittal S, Eftekharzadeh S, Hamdan D, Weaver J, Godlewski K, Fischer K, Long C, Weiss D, Van Batavia J, Zaontz M, Zderic S, Kolon T, Canning D, Shukla A, and Srinivasan A
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- Anesthesia, General, Child, Cohort Studies, Humans, Retrospective Studies, Ambulatory Surgical Procedures methods, Anesthetics, Local
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Objective: To report on our experience performing office-based pediatric urologic procedures. We hypothesize that office-based interventions are safe and effective for children, avoiding unnecessary risk and cost associated with general anesthesia., Methods: We retrospectively identified patients undergoing office-based interventions from 2014 to 2019, including lysis of penile or labial adhesions, division of skin bridges, meatotomy and excision of benign lesion. Success was defined as a completed attempt in the office. Failure includes any unsuccessful office attempts. Complications include 30-day ED visits/readmissions and recurrent skin bridge post division of skin bridge., Results: We identified 1326 interventions: 491 lyses of penile adhesions (37%), 320 division of skin bridges (24%), 128 lyses of labial adhesions (10%), 348 meatotomies (26%), and 39 excisions of benign lesions (3%) [Table 1]. There was a >95% success rate reported in every procedure with an overall complication rate of 0.6%. Excision of benign lesion had 100% success rate. ED visits within 30 days are rare (0.2%), and no patients required admission after their procedure [Table 2]. The rate of recurrence was highest following lysis of labial adhesions (13.3%). Of the 54 patients who underwent retreatment, very few required general anesthesia (n = 6)., Conclusion: Office-based urologic interventions in children are well tolerated with excellent safety and efficacy. Complications and recurrence are universally low. Ultimately, 99.5% of this cohort was managed under local anesthetics, thereby avoiding the risks of anesthesia use in the pediatric population., (Copyright © 2022 Elsevier Inc. All rights reserved.)
- Published
- 2022
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12. Distress Trajectories for Parents of Children With DSD: A Growth Mixture Model.
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Perez MN, Clawson AH, Baudino MN, Austin PF, Baskin LS, Chan YM, Cheng EY, Coplen D, Diamond DA, Fried AJ, Kolon T, Kropp B, Lakshmanan Y, Meyer T, Nokoff NJ, Palmer BW, Paradis A, Poppas DP, Reyes KJS, Williot P, Wolfe-Christensen C, Yerkes EB, Wisniewski AB, and Mullins LL
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- Child, Genitalia, Humans, Adrenal Hyperplasia, Congenital, Parents
- Abstract
Objective: This study identifies trajectories of parent depressive symptoms after having a child born with genital atypia due to a disorder/difference of sex development (DSD) or congenital adrenal hyperplasia (CAH) and across the first year postgenitoplasty (for parents who opted for surgery) or postbaseline (for parents who elected against surgery for their child). Hypotheses for four trajectory classes were guided by parent distress patterns previously identified among other medical conditions., Methods: Participants included 70 mothers and 50 fathers of 71 children diagnosed with a DSD or CAH with reported moderate to high genital atypia. Parents were recruited from 11 US DSD specialty clinics within 2 years of the child's birth and prior to genitoplasty. A growth mixture model (GMM) was conducted to identify classes of parent depressive symptoms over time., Results: The best fitting model was a five-class linear GMM with freely estimated intercept variance. The classes identified were termed "Resilient," "Recovery," "Chronic," "Escalating," and "Elevated Partial Recovery." Four classes have previously been identified for other pediatric illnesses; however, a fifth class was also identified. The majority of parents were classified in the "Resilient" class (67.6%)., Conclusions: This study provides new knowledge about the trajectories of depressive symptoms for parents of children with DSD. Future studies are needed to identify developmental, medical, or familial predictors of these trajectories., (© The Author(s) 2021. Published by Oxford University Press on behalf of the Society of Pediatric Psychology. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.)
- Published
- 2021
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13. Post-operative complications following feminizing genitoplasty in moderate to severe genital atypia: Results from a multicenter, observational prospective cohort study.
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Baskin A, Wisniewski AB, Aston CE, Austin P, Chan YM, Cheng EY, Diamond DA, Fried A, Kolon T, Lakshmanan Y, Williot P, Meyer S, Meyer T, Kropp B, Nokoff N, Palmer B, Paradis A, Poppas D, VanderBrink B, Scott Reyes KJ, Tishelman A, Wolfe-Christensen C, Yerkes E, Mullins LL, and Baskin L
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- Child, Child, Preschool, Cohort Studies, Female, Genitalia surgery, Humans, Male, Prospective Studies, Urogenital Surgical Procedures adverse effects, Adrenal Hyperplasia, Congenital surgery, Disorders of Sex Development surgery
- 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 by Elsevier Ltd.)
- Published
- 2020
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14. Predictors of Psychosocial Distress in Parents of Young Children with Disorders of Sex Development.
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Perez MN, Delozier AM, Aston CE, Austin P, Baskin L, Chan YM, Cheng EY, Diamond DA, Fried A, Greenfield S, Kolon T, Kropp B, Lakshmanan Y, Meyer S, Meyer T, Nokoff N, Palmer B, Paradis A, Poppas D, Scott Reyes KJ, Swartz JM, Tishelman A, Wisniewski AB, Wolfe-Christensen C, Yerkes E, and Mullins LL
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- Adult, Child, Preschool, Disorders of Sex Development complications, Female, Humans, Incidence, Infant, Male, Prognosis, Risk Factors, Stress, Psychological epidemiology, Stress, Psychological psychology, United States epidemiology, Disorders of Sex Development psychology, Parents psychology, Quality of Life, Stress, Psychological etiology
- Abstract
Purpose: We evaluated demographic, financial and support predictors of distress for parents of young children with disorders of sex development including atypical genital development, and characterized early parental experiences. This work extends our previous findings to identify those parents at risk for distress., Materials and Methods: Participants included mothers (76) and fathers (63) of a child (78) diagnosed with disorders of sex development characterized by moderate to severe genital atypia. Parents completed a demographic questionnaire, measures of anxious and depressive symptoms, quality of life, illness uncertainty and posttraumatic stress symptoms, and rated their satisfaction with the appearance of their child's genitalia., Results: Depressive and posttraumatic stress symptoms of caregivers were comparable to standardized norms while levels of anxious symptoms were below norms. A subset of parents reported clinically elevated symptoms. Overall 26% of parents reported anxious symptoms, 24% reported depressive symptoms and 17% reported posttraumatic stress symptoms. Levels of illness uncertainty were lower than those of parents of children with other chronic illnesses. Differences by parent sex emerged, with mothers reporting greater distress. Lower income, increased medical care and travel expenses, and having no other children were related to increased psychosocial distress., Conclusions: Early psychosocial screening is recommended for parents of children with disorders of sex development. Clinicians should be aware that financial burden and lack of previous parenting experience are risk factors for distress.
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- 2019
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15. Uncertainty and Posttraumatic Stress: Differences Between Mothers and Fathers of Infants with Disorders of Sex Development.
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Delozier AM, Gamwell KL, Sharkey C, Bakula DM, Perez MN, Wolfe-Christensen C, Austin P, Baskin L, Bernabé KJ, Chan YM, Cheng EY, Diamond DA, Ellens REH, Fried A, Galan D, Greenfield S, Kolon T, Kropp B, Lakshmanan Y, Meyer S, Meyer T, Nokoff NJ, Reyes KJ, Palmer B, Poppas DP, Paradis A, Tishelman AC, Yerkes EB, Chaney JM, Wisniewski AB, and Mullins LL
- Subjects
- Adult, Female, Humans, Infant, Male, Parent-Child Relations, Disorders of Sex Development psychology, Stress Disorders, Post-Traumatic diagnosis, Uncertainty
- Abstract
Parents of children with disorders of sex development (DSD) report significant psychological distress, including posttraumatic stress symptoms (PTSS), with mothers consistently reporting higher rates of psychological distress than fathers. However, psychological factors contributing to PTSS in both parents are not well understood. The present study sought to fill this gap in knowledge by examining PTSS and illness uncertainty, a known predictor of psychological distress, in parents of children recently diagnosed with DSD. Participants were 52 mothers (M
age = 32.55 years, SD = 5.08) and 41 fathers (Mage = 35.53 years, SD = 6.78) of 53 infants (Mage = 9.09 months, SD = 6.19) with DSD and associated atypical genital development. Participants were recruited as part of a larger, multisite study assessing parents' psychosocial response to their child's diagnosis of DSD. Parents completed measures of illness uncertainty and PTSS. Mothers reported significantly greater levels of PTSS, but not illness uncertainty, than fathers, and were more likely than fathers to report clinical levels of PTSS (21.2% compared to 7.3%). Hierarchical regression revealed that parent sex, undiagnosed or unclassified DSD status, and illness uncertainty were each associated with PTSS. The overall model accounted for 23.5% of the variance associated with PTSS. Interventions targeting illness uncertainty may be beneficial for parents of children with newly diagnosed DSD.- Published
- 2019
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16. Ipsilateral ureteroureterostomy: does function of the obstructed moiety matter?
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Kawal T, Srinivasan AK, Talwar R, Chu DI, Long C, Weiss D, Van Batavia J, Kolon TF, and Shukla AR
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- Child, Preschool, Female, Humans, Infant, Male, Postoperative Complications epidemiology, Retrospective Studies, Ureteral Obstruction etiology, Ureterocele complications, Ureter abnormalities, Ureter surgery, Ureteral Obstruction physiopathology, Ureteral Obstruction surgery, Ureterocele surgery, Ureterostomy methods
- Abstract
Purpose: Upper pole nephrectomy has been the traditional surgical management of children with poorly functioning upper pole moieties in duplex renal collecting systems having ureteral ectopia and ureterocele. However, ablative surgery confers a risk of functional loss to the remnant moiety due to vasospasm or vascular injury. It was hypothesized that ipsilateral ureteroureterostomy (IUU) is a safe and feasible approach for the management of these patients and that residual function in the obstructed upper pole does not affect surgical outcomes., Materials and Methods: All patients with duplex systems who underwent IUU between 2010 and 2016 were retrospectively reviewed. Patients were sorted into two groups based on pre-operative imaging: those having <10% upper pole moiety function (UPMF) and those having ≥ 10% UPMF. Outcomes assessed were postoperative complications (Clavien-Dindo classification), need for secondary surgery, and radiological outcomes., Results: The study cohort comprised 53 children with ectopia or ureterocele affecting the upper pole in a duplex system, 21 with UPMF <10% (median function 0% and median age 1.49 years) and 32 with UPMF ≥ 10% (median function 15% and median age 0.91 years). Median follow-up was 27.4 months and 27.6 months. In both the groups, prenatal hydronephrosis was the most common presentation (57% and 56%, respectively; p = 0.18) followed by urinary tract infection. Mann-Whitney U test comparing the two groups revealed no significant differences in any of the outcomes assessed. No patient required secondary surgery., Conclusion: Ipsilateral ureteroureterostomy is a safe, definitive surgical intervention that preserves the renal architecture in children with duplex collecting systems regardless of upper pole function., (Copyright © 2018. Published by Elsevier Ltd.)
- Published
- 2019
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17. Baseline Characteristics of Infants With Atypical Genital Development: Phenotypes, Diagnoses, and Sex of Rearing.
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Finlayson C, Rosoklija I, Aston CE, Austin P, Bakula D, Baskin L, Chan YM, Delozier AM, Diamond DA, Fried A, Greenfield S, Kolon T, Kropp B, Lakshmanan Y, Meyer S, Meyer T, Nokoff N, Mullins LL, Palmer B, Perez MN, Poppas DP, Reddy P, Reyes KJS, Schulte M, Sharkey CM, Yerkes E, Wolfe-Christensen C, Wisniewski AB, and Cheng EY
- Abstract
Purpose: Little is known about the phenotypes, diagnoses, and sex of rearing of infants with atypical genital development in the United States. As part of a multicenter study of these infants, we have provided a baseline report from US difference/disorder of sex development clinics describing the diagnoses, anatomic features, and sex of rearing. We also determined whether consensus guidelines are followed for sex designation in the United States., Methods: Eligible participants had moderate-to-severe genital atypia, were aged <3 years, and had not undergone previous genitoplasty. Karyotype, genetic diagnosis, difference/disorder of sex development etiology, family history, and sex of rearing were collected. Standardized examinations were performed., Results: Of 92 subjects, the karyotypes were 46,XX for 57%, 46,XY for 34%, and sex chromosome abnormality for 9%. The median age at the baseline evaluation was 8.8 months. Most 46,XX subjects (91%) had congenital adrenal hyperplasia (CAH) and most 46,XY subjects (65%) did not have a known diagnosis. Two individuals with CAH underwent a change in sex of rearing from male to female within 2 weeks of birth. The presence of a uterus and shorter phallic length were associated with female sex of rearing. The most common karyotype and diagnosis was 46,XX with CAH, followed by 46,XY with an unknown diagnosis. Phenotypically, atypical genitalia have been most commonly characterized by abnormal labioscrotal tissue, phallic length, and urethral meatus location., Conclusions: An increased phallic length was positively associated with rearing male. Among the US centers studied, sex designation followed the Consensus Statement recommendations. Further study is needed to determine whether this results in patient satisfaction.
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- 2018
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18. Tunica vaginalis flap for salvaging testicular torsion: A matched cohort analysis.
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Chu DI, Gupta K, Kawal T, Van Batavia JP, Bowen DK, Zaontz MR, Kolon TF, Weiss DA, Zderic SA, and Canning DA
- Subjects
- Adolescent, Cohort Studies, Humans, Male, Orchiectomy, Retrospective Studies, Testis surgery, Urologic Surgical Procedures, Male methods, Spermatic Cord Torsion surgery, Surgical Flaps
- Abstract
Introduction: In testicular torsion, ischemia time from pain onset impacts testicular salvage. A tunica albuginea fasciotomy to relieve compartment pressure followed by a tunica vaginalis flap (TVF) may enhance salvage., Objective: To define the optimal window of ischemia time during which TVF may be most beneficial to avoid orchiectomy., Study Design: A retrospective cohort study of males presenting with testicular torsion at a single tertiary-care institution from January, 2003 to March, 2017. Ischemia time was defined as duration of pain from onset to surgery. Because TVF would be an option to orchiectomy, and it was found that ischemia time was longer in testicles that underwent orchiectomy, matching was performed. Cases of torsion treated with TVF were matched 1:1 with cases treated with orchiectomy on age at surgery, and ischemia time. Outcomes included postoperative viability, defined as palpable testicular tissue with normal consistency, and atrophy, defined as palpable decrease in size relative to contralateral testicle. Sensitivity analyses were performed restricting to the subgroups with postoperative ultrasound, >6 months' follow-up, and additionally matching for degrees of twist., Results: A total of 182 patients met eligibility criteria, of whom 49, 36, and 97 underwent orchiectomy, TVF, and septopexy alone, respectively. Median follow-up was 2.7 months; 26% of patients had postoperative ultrasound (61% of TVF group). In the orchiectomy, TVF, and septopexy groups, respectively, median ischemia times were 51, 11, and 8 h, postoperative viability rates were 0, 86, and 95%, and postoperative atrophy rates were 0, 68, and 24%. After matching, 32 patients with TVF were matched to 32 patients who underwent orchiectomy. In the TVF group, postoperative viability occurred in 95% (19/20) vs 67% (8/12) of patients with ischemia times ≤24 and >24 h, respectively. Atrophy occurred in 67% (12/18) vs 83% (10/12) of these same respective patients. Sensitivity analysis by ultrasound and longer follow-up found similar viability results, although atrophy rates were higher. Additional matching for degrees of twist showed lower viability and higher atrophy rates for increasing ischemia times., Discussion: Patients who presented with testicular torsion with ischemia times ≤24 h and who were being considered for orchiectomy may have benefitted most from TVF, albeit at high risk of atrophy. However, for ischemia times >24 h, TVF may still have preserved testicular viability in two-thirds of cases. A limitation was short follow-up., Conclusion: A TVF was a valid alternative to orchiectomy for torsed testicles, albeit with high testicular atrophy rates., (Copyright © 2018 Journal of Pediatric Urology Company. Published by Elsevier Ltd. All rights reserved.)
- Published
- 2018
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19. Back to the future: The Cecil-Culp technique for salvage penile reconstructive procedures.
- Author
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Weiss DA, Long CJ, Frazier JR, Shukla AR, Srinivasan AK, Kolon TF, DiCarlo H, Gearhart JP, and Canning DA
- Subjects
- Child, Child, Preschool, Humans, Male, Plastic Surgery Procedures methods, Retrospective Studies, Scrotum surgery, Urologic Surgical Procedures, Male methods, Hypospadias surgery, Penis surgery, Surgical Flaps
- Abstract
Introduction: Re-operative penile reconstruction is challenging and requires tension-free skin closure. The repair popularized by Cecil and Culp in the 1940s, using the scrotum to provide a temporary vascularized bed for complex hypospadias repairs, fell out of favor due to temporal trends towards single-stage repairs and concern for utilizing hair-bearing skin on the penile shaft., Objective: It was hypothesized that a modified Cecil-Culp (CC) concept of penile scrotalization, leaving the penis attached to the scrotum for 1 year rather than 6 weeks as originally described, improves outcomes with this reconstruction for ventral skin deficiency or poor vascular support., Methods: Institutional Review Board-approved registries were reviewed to identify patients who underwent a CC repair during 1987-2016 at two institutions. Cecil-Culp technique was utilized in multi-stage hypospadias complication repairs or for insufficient ventral penile shaft skin coverage. Anatomic abnormality, number and type of prior surgeries, and complications before and after CC were recorded., Results: Thirty-nine patients underwent CC: 23 failed hypospadias repairs, three hypospadias after bladder exstrophy, 10 penile curvature following circumcision, and three with skin loss from trauma. Mean age at CC was 61.8 months (hypospadias), and 59.8 months (non-hypospadias). Hypospadias patients underwent a mean of 3.6 surgeries (range 1-9) prior to CC. Four of the 39 patients (10.3%) had perioperative complications after CC, including scrotal abscess, skin infections, and difficulty removing the urethral stent. Eight of 37 (21.6%) patients had longer-term complications related to their hypospadias repair, including fistulae, diverticula, dehiscence, and stricture. Mean time from CC placement to release was 345 and 473 days for hypospadias and non-hypospadias cases, respectively. There was no apparent scrotal skin transferred to the penile shaft at the final take-down. Mean follow-up was 22.3 months., Discussion: Embedding the penis into the scrotum for added vascularity and ventral skin coverage has been used effectively in cases of the most tenacious fistulas and for significant skin loss and trauma. Limitations of this study were its retrospective approach at two institutions over an extended period of time by multiple surgeons, so patient selection and procedure may have varied., Conclusions: Modification of CC repair by delaying 9-12 months before CC take-down enhanced the benefits of a robust vascular bed for wound healing, and helped to avoid transfer of hair-bearing scrotal skin to the penile shaft. The CC technique is an important tool for penile reconstructive surgery of complex hypospadias repairs with inadequate skin, and for traumatic injuries., (Copyright © 2018 Journal of Pediatric Urology Company. Published by Elsevier Ltd. All rights reserved.)
- Published
- 2018
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20. Parent-Rated Severity of Illness and Anxiety among Caregivers of Children Born with a Disorder of Sex Development Including Ambiguous Genitalia.
- Author
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Sharkey CM, Bakula DM, Wolfe-Christensen C, Austin P, Baskin L, Bernabé KJ, Chan YM, Cheng EY, Delozier AM, Diamond DA, Ellens REH, Fried A, Galan D, Greenfield S, Kolon T, Kropp B, Lakshmanan Y, Meyer S, Meyer T, Nokoff NJ, Scott Reyes KJ, Palmer B, Poppas DP, Paradis A, Tishelman A, Yerkes EB, Chaney JM, Wisniewski AB, and Mullins LL
- Subjects
- Adult, Female, Humans, Male, Quality of Life, Risk Factors, Severity of Illness Index, Surveys and Questionnaires, Anxiety psychology, Caregivers psychology, Disorders of Sex Development diagnosis, Parents psychology, Perception
- Abstract
Background/aims: Parents of children born with disorders of sex development (DSD) often experience anxiety, but risk factors, including parental perception of the severity of their child's DSD, have not been examined. We hypothesized that severity of illness (SOI) ratings would relate to parental anxiety, and would be higher for parents of children with a potentially life-threatening DSD (e.g., 21-hydroxylase deficiency)., Methods: Eighty-nine parents (Mage = 33.0, 56.2% mothers) of 51 children (Mage in months = 8.7) with a DSD including ambiguous genitalia were recruited from 12 specialized DSD clinics. Parents completed questionnaires prior to genitoplasty, 6 months post-genitoplasty, and 12 months post-genitoplasty (if completed). Data were analyzed with linear mixed modeling., Results: Parental anxiety decreased over time, χ2(1) = 10.14, p < 0.01. A positive relationship between SOI and anxiety was found, with SOI being a strong predictor of anxiety (b = 0.53, p < 0.01; χ2[1] = 5.33, p < 0.05). An SOI by time interaction indicated SOI had an increasing effect on anxiety over time, b = 0.06, p < 0.05; χ2(1) = 6.30, p < 0.05. There was no diagnosis by SOI interaction., Conclusion: Parental anxiety decreased over time, but those with higher SOI ratings reported greater initial anxiety followed by slower resolution over time. Underlying etiology of DSD had no effect on the relationship between SOI and anxiety., (© 2018 S. Karger AG, Basel.)
- Published
- 2018
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21. Psychological Adjustment of Parents of Children Born with Atypical Genitalia 1 Year after Genitoplasty.
- Author
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Ellens REH, Bakula DM, Mullins AJ, Scott Reyes KJ, Austin P, Baskin L, Bernabé K, Cheng EY, Fried A, Frimberger D, Galan D, Gonzalez L, Greenfield S, Kolon T, Kropp B, Lakshmanan Y, Meyer S, Meyer T, Mullins LL, Nokoff NJ, Palmer B, Poppas D, Paradis A, Yerkes E, Wisniewski AB, and Wolfe-Christensen C
- Subjects
- Adult, Child, Preschool, Decision Making, Disorders of Sex Development psychology, Female, Genitalia surgery, Gynecologic Surgical Procedures adverse effects, Gynecologic Surgical Procedures methods, Humans, Infant, Longitudinal Studies, Male, Middle Aged, Postoperative Complications epidemiology, Postoperative Complications etiology, Postoperative Period, Quality of Life, Plastic Surgery Procedures methods, Stress, Psychological diagnosis, Stress, Psychological psychology, Treatment Outcome, Urologic Surgical Procedures, Male adverse effects, Urologic Surgical Procedures, Male methods, Disorders of Sex Development surgery, Emotional Adjustment, Genitalia abnormalities, Parents psychology, Postoperative Complications psychology, Plastic Surgery Procedures adverse effects
- Abstract
Purpose: We examined the psychological adjustment of parents of children born with moderate to severe genital atypia 12 months after their child underwent genitoplasty., Materials and Methods: Parents were recruited longitudinally from a multicenter collaboration of 10 pediatric hospitals with specialty care for children with disorders/differences of sex development and/or congenital adrenal hyperplasia. Parents completed measures of depressive and anxious symptoms, illness uncertainty, quality of life, posttraumatic stress and decisional regret., Results: Compared to levels of distress at baseline (before genitoplasty) and 6 months after genitoplasty, data from 25 mothers and 20 fathers indicated significant improvements in all psychological distress variables. However, a subset of parents continued endorsing clinically relevant distress. Some level of decisional regret was endorsed by 28% of parents, although the specific decision that caused regret was not specified., Conclusions: Overall the majority of parents were coping well 1 year after their child underwent genitoplasty. Level of decisional regret was related to having a bachelor's level of education, increased levels of illness uncertainty preoperatively and persistent illness uncertainty at 12 months after genitoplasty but was unrelated to postoperative complications., (Copyright © 2017 American Urological Association Education and Research, Inc. Published by Elsevier Inc. All rights reserved.)
- Published
- 2017
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22. Changes in levels of parental distress after their child with atypical genitalia undergoes genitoplasty.
- Author
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Wolfe-Christensen C, Wisniewski AB, Mullins AJ, Reyes KJ, Austin P, Baskin L, Bernabé K, Cheng E, Fried A, Frimberger D, Galan D, Gonzalez L, Greenfield S, Kolon T, Kropp B, Lakshmanan Y, Meyer S, Meyer T, Nokoff NJ, Palmer B, Poppas D, Paradis A, Yerkes E, and Mullins LL
- Subjects
- Adolescent, Adult, Child, Disorders of Sex Development psychology, Female, Follow-Up Studies, Humans, Male, Postoperative Period, Prospective Studies, Young Adult, Adaptation, Psychological, Disorders of Sex Development surgery, Parent-Child Relations, Parents psychology, Quality of Life, Plastic Surgery Procedures psychology, Urologic Surgical Procedures psychology
- Abstract
Background: The birth of a child with a disorder of sex development (DSD) and atypical genitalia can be traumatizing and isolating for families. Parents of children with DSD are at risk for increased levels of psychological distress, including depression, anxiety, illness uncertainty (IU), post-traumatic stress symptoms (PTSS), and impairments in quality of life (QOL). Our previous report indicated that although the majority of parents of children with atypical genitalia were coping well prior to the child's genitoplasty, approximately 25% of them reported experiencing some type of psychological distress., Objective: The current study sought to examine the trajectory of parental psychological distress prior to, and 6 months after their child underwent genitoplasty., Methods: Parents were recruited as part of an ongoing, prospective, multi-site study involving 10 pediatric hospitals with specialized care for children with atypical genitalia. Results from 49 parents (27 mothers, 22 fathers) of 28 children (17 female sex of rearing, 11 male sex of rearing) born with atypical genitalia (Prader rating of 3-5 in 46,XX DSD or by a Quigley rating of 3-6 in 46,XY DSD or 45,XO/46,XY) were included in the study., Results: There were no significant changes in level of depressive or anxious symptoms or quality of life between baseline and 6-month post-operative follow-up, although mothers continued to report significantly higher levels of depressive symptoms than fathers, and as a group, these parents reported lower QOL than published norms. The level of PTSS significantly decreased for all parents, suggesting that parents may have come through the acute stress phase associated with their child's diagnosis. Finally, while there were no significant changes in IU over the time period, the level of IU for parents of boys actually increased, while parents of girls reported no change (Figure)., Conclusion: Six months after their child has undergone genitoplasty, the majority of parents report minimal levels of psychological distress. However, a subset of these parents continue to experience significant distress related to their child's diagnosis. Specifically, parents of boys appear to be at increased risk for difficulties, which may be related to either the lack of clinical diagnosis for almost half of these children or the necessity of two-stage surgeries for the majority of them. We will continue collecting data on these families to better understand the trajectory of these adjustment variables., (Copyright © 2016 Journal of Pediatric Urology Company. Published by Elsevier Ltd. All rights reserved.)
- Published
- 2017
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23. Fertility in disorders of sex development: A review.
- Author
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Van Batavia JP and Kolon TF
- Subjects
- Female, Humans, Male, Disorders of Sex Development complications, Infertility etiology
- Abstract
Introduction: Disorders of sex development (DSD) are a heterogeneous group of complex conditions that can affect chromosomal, gonadal, and/or phenotypical sex. In addition to impacts on internal and external genitalia,these conditions can affect fertility potentialto various degrees. In this review we discuss fertility issues including gonadalpreservation and reproductive outcomes based on specific DSD conditions., Methods and Materials: A systematic literature review was performed on Embase
™ , PubMed® , and Google Scholar™ for disordersof sex development and infertility. Original research articles and relevant reviews were examinedand a synopsis of these data was generated for a comprehensive review of fertility potential in disorders of sex development., Results: While patients with some DSDs may have functioning gonads with viable germ cells but an inability to achieve natural fertility secondary to incongruent internal or external genitalia, other patients may have phenotypically normal genitalia but infertility due to abnormal gonad development. Fertility rates in females with congenital adrenal hyperplasia (CAH) depend on phenotype and are inversely proportionalto the severity of the disease. Men with classic CAH have reduced fertility and due to the presence of testicular adrenal rest tumors and to suppression of the hypothalamic-pituitary-gonadal axis by high systemic levels of androgens. Infertility is seen in complete androgen insensitivity and subfertility is common in partial cases. Fertility is rare in pure or mixed gonadal dysgenesis, ovotesticular disorder, Klinefelter syndrome, and XX males., Conclusion: Fertility potential appears to be the highest in patientswith XX or XY CAH, especially non-classic forms. Advancements in assisted reproduction techniques has in rare cases produced offspring in some diagnoses thought to be universally infertile. Discussion of fertility issues with the patient and family is essential to the optimal treatment of each patient and an important part of the multi-disciplinary approach to evaluating and counseling these families., (Copyright © 2016 Journal of Pediatric Urology Company. Published by Elsevier Ltd. All rights reserved.)- Published
- 2016
- Full Text
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24. Pediatric calyceal diverticulum treatment: An experience with endoscopic and laparoscopic approaches.
- Author
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Long CJ, Weiss DA, Kolon TF, Srinivasan AK, and Shukla AR
- Subjects
- Adolescent, Child, Child, Preschool, Diverticulum complications, Female, Follow-Up Studies, Humans, Kidney Calculi complications, Male, Prospective Studies, Treatment Outcome, Diverticulum surgery, Kidney Calculi surgery, Kidney Calices surgery, Laparoscopy methods, Nephrostomy, Percutaneous methods, Ureteroscopy methods
- Abstract
Introduction: The symptomatic calyceal diverticulum is a rare event in the pediatric population. In adults, surgical options include ureteroscopy, percutaneous ablation, and laparoscopic decortication but there is a lack of experience in the literature with these techniques., Objective: We present our experience with both the ureteroscopic and laparoscopic approach to treating the pediatric calyceal diverticulum., Study Design: We performed a retrospective case series looking at patients who underwent treatment for calyceal diverticulum at our institution from January 2009 to May 2014. We reviewed patient demographics, indications for intervention, radiographic appearance, type of intervention, and perioperative outcomes. Ureteroscopic approach included dilation of infundibulum and ablation of diverticular cavity. Laparoscopic approach included ablation of the diverticulum with argon diathermy with or without surgical closure of the ostium., Results: There were 13 patients who underwent 15 procedures for symptomatic calyceal diverticulum (Table). Median age was 11 years. Indications for intervention were: pain and increasing size of diverticulum (8/15, 55%), hematuria (3/15, 20%), UTI (3/15, 20%), and calculi (1/15, 5%). 11/15 (73%) procedures were managed endoscopically and 4/15 (27%) were managed with laparoscopic decortication. Ureteral stent was left in all patients for a mean duration of 51 days (15-120 days). Follow up imaging at median of 2.1 years (0.5-4 years) revealed an initial success rate of 85% (11/13 patients). Two patients failed initial intervention (persistent pain/increasing size) necessitating successful secondary minimally invasive procedures. There were 2 (13%) complications: a perinephric hematoma post endoscopic ablation which resolved spontaneously and a deep venous thrombosis in a patient with a coagulation disorder in the laparoscopic group., Discussion: Limitations of our study include its retrospective design, lack of standardization of the treatment approach amongst the four treating surgeons, and the small number of patients requiring intervention for this relatively rare diagnosis. Our study is the largest to date in the pediatric population and is the first to report outcomes with ureteroscopic management of the calyceal diverticulum., Conclusions: We found that the pediatric calyceal diverticulum can be successfully treated in a minimally invasive manner. The endoscopic approach should be the first line option for patients with small, endophytic diverticula, particularly those located in the upper and mid pole. The laparoscopic approach is more invasive but should be considered for large diverticula that are exophytic with thin overlying parenchyma., (Copyright © 2015 Journal of Pediatric Urology Company. Published by Elsevier Ltd. All rights reserved.)
- Published
- 2015
- Full Text
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