Stigma, Intrusiveness, and Distress in Parents of Children with a Disorder/Difference of Sex Development.

OBJECTIVE: The impact of parent-reported stigma due to their child's disorder/difference of sex development (DSD) on parent psychosocial adjustment is poorly understood. In other pediatric populations, perceived interference of medical conditions into daily activities (i.e., illness intrusiveness ) mediates the relationship of stigma to adjustment. This study assessed relationships between parent-focused and child-focused stigma → illness intrusiveness → depressive and anxious symptoms . Exploratory analyses sought to identify patient characteristics associated with stigma. METHOD: Caregivers (59 women and 43 men) of 63 children diagnosed with a DSD up to age 4 years completed measures of demographics, parent-focused and child-focused stigma, illness intrusiveness, and depressive and anxious symptoms. RESULTS: Increased parent-focused and child-focused stigma were associated with increased illness intrusiveness, which, in turn, was associated with increased depressive and anxious symptoms for parents nested within dyads. Among children with DSD family histories, parents reported greater child-focused stigma. CONCLUSION: Parents who experience DSD-related stigma report greater interference of their child's DSD into their daily activities, which is associated with poorer psychosocial adjustment. Findings support developing clinical interventions related to parents' perceptions of stigma and illness intrusiveness to improve parent adjustment.

Distress Trajectories for Parents of Children With DSD: A Growth Mixture Model.

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.

Retroperitoneal Sclerosing Lipogranuloma in an Adolescent With Congenital Atresia of the Inferior Vena Cava: Case Report and Literature Review.

Sclerosing lipogranuloma (SLG) in children is a rare, benign disease of unknown etiology suspected to be due to abnormal fatty tissue reaction. A 13-year-old girl presented with progressively worsening back pain. Cross-sectional imaging identified a retroperitoneal mass compressing the left ureter as well as infrarenal inferior vena cava atresia with extensive venous collaterals and chronic partially occlusive thromboses of the iliac veins. Surgical biopsy was consistent with SLG and it resolved spontaneously. SLG is typically a disease of adulthood but may be seen in children. The association between inferior vena cava atresia with venous thrombosis and development of SLG has not been reported previously.

Illness Uncertainty Longitudinally Predicts Distress Among Caregivers of Children Born With DSD.

OBJECTIVE: A subset of parents of children with disorders/differences of sex development (DSD) including ambiguous genitalia experience clinically elevated levels of anxious and depressive symptoms. Research indicates that uncertainty about their child's DSD is associated with parent psychosocial distress; however, previous studies have been cross-sectional or correlational in nature. The current study is the first to examine the longitudinal trajectory of the relationship between caregiver-perceived uncertainty about their child's DSD and caregiver anxious and depressive symptoms across the first 12 months following genital surgery in young children, or if surgery was not performed, the first 12 months following study entry. METHODS: One hundred and thirteen caregivers (Mage = 32.12; 57.5% mothers; 72.6% Caucasian) of children (N = 70; Mage = 9.81 months; 65.7% female) with DSD were recruited from 12 DSD specialty clinics in the United States. Caregivers completed psychosocial measures at baseline, 6 and 12 months following genitoplasty, or study entry if parents elected not to have surgery for their child. RESULTS: Caregiver illness uncertainty and both anxious and depressive symptoms were highest at baseline and decreased over time (ps < .05). Caregiver illness uncertainty predicted symptoms of anxious and depressive symptoms across all time points (ps < .05). CONCLUSIONS: Caregivers' perceptions of uncertainty about their child's DSD are highest soon after diagnosis, and uncertainty continues to predict both anxious and depressive symptoms across time. Thus, the initial diagnostic period is a critical time for psychological assessment and intervention, with parent illness uncertainty being an important clinical target.

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

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.

Cryptorchidism: experience and reason.

INTRODUCTION: To characterize our contemporary clinical experience with cryptorchidism. MATERIALS AND METHODS: The records of boys referred for cryptorchidism were reviewed from 2001 to 2011. Data regarding the incidence of retractile testes, testicular ascent, surgical approach and outcomes were tabulated. Follow up was both early (< 12 weeks) and late (> 12 weeks). RESULTS: A total of 1885 patients, or 2593 testes, were identified. Eight hundred and forty-one children (45%) or 1204 testes (46%) were retractile on initial exam-57% bilateral; 187 testes (7%) later 'ascended' on re-examination and underwent surgery--15% bilateral; 1340 (85%) testes were palpable in the inguinal canal and underwent inguinal orchidopexy--98% were successful; 69 (4%) of initially palpable testes were found to be atrophic and removed; 167 (11%) testes were non-palpable and underwent laparoscopy-46 were atrophic and removed; 31 were vanishing; 33 were brought down using an inguinal approach at the same sitting with 97% success; 47 underwent staged Fowler-Stephens orchidopexy (FSO) and 10 underwent non-staged FSO, with 82% and 78% success respectively. All second stages were performed open. CONCLUSIONS: Almost half of children referred for cryptorchidism had retractile testes. Surgery for later ascent was required in 16% of testes judged to be retractile at a median age of 8 years, emphasizing the need for repeat examination. High success rates with inguinal orchidopexy were achieved, even in non-palpable testes. Testes requiring FSO were uncommonly encountered-approximately 5 testes/year or 4% of testes undergoing surgery-and success was achieved in approximately 80%.

Early prenatal detection of an intra-abdominal cryptorchid testicular teratoma.

Intra-abdominal prenatally detected testicular neoplasms are rare; however, increased use of prenatal ultrasonography has led to the discovery of these uncommon neoplasms. We report the fifth case of a prenatally detected intra-abdominal testicular teratoma, which, in this instance, was detected early in pregnancy as a cystic mass within the fetal abdomen that subsequently underwent torsion later in pregnancy before delivery.

The incidence of urinary tract infection after open anti-reflux surgery for primary vesicoureteral reflux: early and long-term follow up.

OBJECTIVES: Controversy exists regarding the benefit of open anti-reflux surgery (OS) in reducing the incidence of urinary tract infection (UTI). We, therefore, reviewed our short and long term data in children who have undergone OS. METHODS: 153 children (131F, 22M; ages 2-16 yrs, mean 8 yrs) underwent OS from 1990 to 2008. Reasons for presentation were UTI-131; sibling survey-19; prenatal hydronephrosis-3. Major reasons for OS were: breakthrough UTI-74 (48%), high grade (IV or V)-49 (32%), poor compliance with prophylaxis-15 (10%). Of 153 pre-operative DMSA scans, 60 (39%) had defects. Post-operative studies were performed 6 months after surgery and 151 (99%) had negative voiding cystourethrograms (VCUG's). All underwent urine cultures 6 months post-op and prophylaxis was stopped. 56 (37%) were later contacted at an average 7 yrs post-op (range: 2-13 yrs). RESULTS: 23 (15% of 153 followed short term, 40% of 56 followed long term)-20F, 3M-had non-febrile UTI's (nfUTI's) and one girl (0.6%) had a febrile UTI (fUTI). Of those who had nfUTI's 7 (30%) had high grade reflux and 16 (70%) had pre-op breakthrough UTI's. 11 (48%) had DMSA scans with defects. 2 had UTI's within 1 year after a negative VCUG and 21 had UTI's later (1-8 yrs). 1 girl had a fUTI 1 month after a negative VCUG. CONCLUSIONS: Successful OS effectively eliminates fUTI. Families should be counseled that nfUTI may occur many years after surgery, especially in girls with a history of breakthrough UTI and renal scarring.

Pediatric pyeloplasty: comparison of literature meta-analysis of laparoscopic and open techniques with open surgery at a single institution.

PURPOSE: We performed a meta-analysis of published series of laparoscopic and open pyeloplasty. We compared these data to open pyeloplasty at our institution using diuretic renography as the indicator for obstruction and postoperative success. MATERIALS AND METHODS: Laparoscopic studies included 19 series published between 1995 and 2007 comprising 346 kidneys. Open pyeloplasty studies included 9 series published between 1998 and 2007 comprising 486 kidneys. Data from our institution included records for 213 patients (224 kidneys). We defined reoperative intervention as unplanned placement of a nephrostomy tube or ureteral stent, balloon dilation or redo pyeloplasty. RESULTS: In the laparoscopic studies 171 cases (49%) were evaluated by preoperative and 137 (40%) by postoperative diuretic renography. Of patients undergoing postoperative diuretic renography 10 (7%) underwent reoperative intervention, including redo pyeloplasty (6, 4%), nephrostomy (3, 2%) and balloon dilation (1, 1%). In the open pyeloplasty studies performed elsewhere 165 cases (34%) were evaluated by preoperative and 230 (47%) by postoperative diuretic renography. Of patients undergoing postoperative diuretic renography redo pyeloplasty was required in 3 (1%). Of 224 cases managed by open pyeloplasty at our institution 215 (96%) had preoperative and postoperative diuretic renography data available. Of these patients 7 (3%) underwent reoperative intervention, including redo pyeloplasty (4, 2%), ureteral stent (2, 1%) and nephrostomy (1, 0.4%). CONCLUSIONS: Most publications do not confirm preoperative obstruction or, following laparoscopic or open pyeloplasty, postoperative success via diuretic renography. While not statistically significant, in the minority of studies with postoperative diuretic renography results the reoperative intervention rate and redo pyeloplasty rate following laparoscopy are approximately double those of open pyeloplasty.

Three-month-old boy with juvenile granulosa cell tumor of testis and ossifying renal tumor of infancy.

We describe a 3-month-old male infant who presented with gross hematuria and was found to have a renal mass and a testicular mass representing these two entities. This is the first case report of these two lesions presenting concomitantly.

Ectopic ureteroceles in duplex systems: long-term follow up and 'treatment-free' status.

OBJECTIVE: Definitive treatment of ectopic ureterocele (EU) implies that no further surgery or prophylactic antibiotic is needed. The literature is unclear on which interventions render a child 'treatment free'. MATERIALS AND METHODS: Thirty (23 female, seven male) patients presented between 1984 and 2000. Follow up ranged from 5 to 15 years (mean: 7). Presenting reasons were: urinary tract infection in 18 (16 females, two males; age: 17<6 months, one 2 years), prenatal ultrasound in 11 (seven females, four males), and renal failure in one (male, aged 3 weeks). RESULTS: Treatment was as follows. No intervention, three (10%). Single procedure, eight (27%): five hemi-nephrectomy (HN), two transurethral incisions (TUI), one excision and re-implantation (E&R). Two procedures, 14 (47%): first procedure 10 TUI, 4 HN; second procedure 13 E&R, 1 TUI. Three procedures, three (10%): first 2 TUI, 1 HN; second 3 TUI; third 2 E&R, 1 HN. Four procedures, two (7%): first 2 TUI; second 1 HN, 1 TUI; third 2 TUI; fourth 2 E&R. Eight (27%) remained on prophylaxis: two had no intervention, in 4 the ectopic ureterocele was in situ after HN or TUI, and two had reflux after E&R. Twenty two (73%) came off prophylaxis (16 E&R, 4 HN, 1 TUI, 1 observation). Poorly or non-functioning upper pole moieties were left in place in 14/18 who underwent E&R. CONCLUSION: 'Treatment-free' status most often requires ureterocele excision. HN alone can be definitive, while TUI alone is so rarely. Poor or non-functioning upper pole segments can remain after E&R. Children with collapsed ureteroceles in situ often must remain on antibiotic prophylaxis. A staged approach with initial TUI, followed by E&R, was successful in definitively treating the majority.

Gross hematuria in children: a ten-year review.

OBJECTIVES: Gross hematuria in children is uncommon. We reviewed our experience characterizing its clinical presentation and diagnosis. METHODS: The charts of all patients who presented for the 10-year period of 1994 through 2003 were reviewed, and 342 patients were identified. Of these 342 patients, 272 were boys (80%) and 70 (20%) were girls. At presentation, 21 patients (6%) were younger than 3 years (17 were boys and 4 were girls); 199 (58%) were 3 to 12 years old (155 were boys and 44 were girls); and 122 (36%) were 13 to 20 years old (100 were boys and 22 were girls). RESULTS: Of the 272 male patients, 52 (19%) had benign urethrorrhagia; 48 (14%) had trauma; and 48 had a urinary tract infection (14%), and 10 of those also had urologic anomalies. Of the 342 patients, 45 (13%) had one or more congenital urologic anomalies. Of these 45 patients, 20 boys and 2 girls had vesicoureteral reflux, 10 boys had posterior urethral valves, 7 boys and 1 girl had ureteropelvic junction obstruction, 7 boys had proximal hypospadias, 2 boys and 1 girl had ureterovesical junction obstruction, 2 boys and 1 girl had ureterocele, and 1 boy had caliceal diverticulum. Also, 18 patients (5%) had stones; 3 had low-grade bladder transitional cell carcinoma; and 1 had a Wilms tumor. For 118 patients (34%; 95 boys and 23 girls), no etiology was found. CONCLUSIONS: Gross hematuria most often had a benign cause in children and adolescents. It was more common in boys for almost all etiologic categories and ages. The extent of the urologic evaluation should depend on the clinical setting. Voiding cystourethrography is useful in those with suspicious ultrasound findings, urinary tract infection, or voiding symptoms. Cystoscopy should be reserved for the minority in whom hematuria persists or those with ambiguous imaging study findings.

2-stage repair in infancy for severe hypospadias with chordee: long-term results after puberty.

PURPOSE: Urinary and sexual functions were assessed in post-pubescent boys who had undergone 2-stage hypospadias repair in infancy for severe hypospadias with chordee. MATERIALS AND METHODS: A total of 44 boys who had undergone 2-stage hypospadias repair from 1985 to 1993 and who were at least 13 years old were contacted. Of the 44 boys 27 (61%) with an average age of 15.4 years (range 13 to 21) responded. Meatal locations were midshaft in 14 cases, penoscrotal in 9 and perineal in 4. Four boys had bifid scrotum and 5 had intersex disorders. Intramuscular testosterone was administered preoperatively to 15 (56%) boys. A Nesbit procedure was performed in 18 boys (67%). Average patient age at stage 2 repair was 2.3 years. Mean followup was 12.7 years (range 10.7 to 17.2). Additional surgery was performed for diverticuli in 5 cases, fistula in 3 and minor strictures in 4. Of the 27 patients 25 presented for examination and 2 responded to questionnaire only. RESULTS: All patients had normal meatal position, normal glanular anatomy, a well-defined coronal sulcus, normal cylindrical shafts without extra skin and well-defined penoscrotal junctions. Ten boys (40%) had minor spraying of stream, all stood to void and 10 (40%) milked the urethra after voiding. None had chordee. Twenty patients were able to ejaculate and 9 (42.9%) had to milk the ejaculate. Two patients (7.7%) had minor pain with erection. All subjects were satisfied with urinary, erectile and ejaculatory functions, and 23 (92%) were pleased with appearance. CONCLUSIONS: The 2-stage approach for severe hypospadias results in excellent function, cosmesis and patient satisfaction after puberty, with no chordee. Minor voiding and ejaculatory problems are to be expected. Late complications are rare. The use of extragenital skin to either primarily repair or salvage a "cripple" has not been necessary.

Pediatric stone disease: an evolving experience.

PURPOSE: The presentation and management of pediatric stone disease have changed due to early identification and treatment of congenital urological conditions, as well as technological advances. Therefore, we reviewed our 12-year experience. MATERIALS AND METHODS: A total of 123 patients with 158 stones presented from 1991 to 2003. The 46 boys and 77 girls were 8 months to 25 years old, including 5 boys (4%) younger than 3 years, 46 (37%) 4 to 12 years old and 72 (59%) older than 13 years. A 24-hour urine collection was done in 50 patients (41%) and serum chemistry studies were performed in 66 (54%). RESULTS: The seasons of presentation were fall in 41% of cases, summer in 24%, spring in 22% and winter in 13%. Of the patients 94 (76%) had loin pain, 10 (8%) had urinary tract infections, 13 (11%) had a history urinary tract infection, 18 (15%) had gross hematuria, 14 (11%) had structural urological abnormalities and 7 (6%) had neurogenic bladder. Metabolic abnormalities were uncommon and included hypercalciuria in 12%, hyperoxaluria in 2% and cystinuria in 2%. A total of 57 patients (46%) passed the stones and 34 (28%) underwent extracorporeal shock wave lithotripsy, of whom 24 (71%) became stone-free. Ureteroscopy was performed in 10 patients (8%) 6 to 19 years old, percutaneous nephrostolithotomy was done in 4 (3%) and 4 (3%) underwent open surgery. Stone analysis showed calcium based in 88% of the cases, struvite in 7% and cystine in 5%. CONCLUSIONS: The majority of patients had no congenital abnormalities. Early diagnosis of urological abnormalities and urinary infection, and appropriate management of neurogenic bladder may have reduced the incidence in those groups. Most stones are calcium based but occur in the absence of metabolic disturbances. More patients presented in the fall, perhaps reflecting the increased concentration of urine in the summer. Half of the patients passed the stones and shock wave lithotripsy was curative in most others. Ureteroscopy, percutaneous nephrostolithotomy and open surgery were rarely required.

Overcoming the steep learning curve of laparoscopic radical prostatectomy: single-surgeon experience.

PURPOSE: To evaluate the influence of intensive laparoscopic skills training and self-critical video review on the learning curve for laparoscopic radical prostatectomy (LRP). PATIENTS AND METHODS: The initial 40 patients who underwent a transperitoneal LRP (groups 1-4) and the subsequent 20 who underwent LRP by the extraperitoneal approach (group 5) were studied. Eight weeks prior to initiating the LRP program, intensive laparoscopic skills training at a minimally invasive surgery center was undertaken for an average of 4 hours per week. This self-training was continued for 12 weeks into the program, with self-critical review of videotapes of each procedure. The groups were compared with respect to total operative time (ORT), anastomosis time, and blood loss. RESULTS: There were significant differences in the ORT and anastomosis times between each of the first two groups and the last two groups (P <0.001). The learning curve for ORT was overcome after approximately 35 cases, as there were no significant differences in ORT between group 3 and the subsequent groups. The anastomosis took longer to master, as significant time decreases were observed up to group 4, after which, the mean reached a plateau (group 4 v 5 P = NS). The differences in blood loss were not significant. Overall, there were 7 intraoperative (12.7%) and 8 postoperative (14.5%) complications. CONCLUSIONS: The use of similar facilities and training tools can help overcome the steep learning curve of LRP. Longer follow-up is needed to assess these means of attaining better functional results after LRP.