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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 (M(age) = 35.53 years, SD = 6.78) of 53 infants (M(age) = 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.

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.

Summary Introduction Prior studies of outcomes following genitoplasty have reported high rates of surgical complications among children with atypical genitalia. Few studies have prospectively assessed outcomes after contemporary surgical approaches. Objective The current study reported the occurrence of early postoperative complications and of cosmetic outcomes (as rated by surgeons and parents) at 12 months following contemporary genitoplasty procedures in children born with atypical genitalia. Study design This 11-site, prospective study included children aged ≤2 years, with Prader 3–5 or Quigley 3–6 external genitalia, with no prior genitoplasty and non-urogenital malformations at the time of enrollment. Genital appearance was rated on a 4-point Likert scale. Paired t-tests evaluated differences in cosmesis ratings. Results Out of 27 children, 10 were 46,XY patients with the following diagnoses: gonadal dysgenesis, PAIS or testosterone biosynthetic defect, severe hypospadias and microphallus, who were reared male. Sixteen 46,XX congenital adrenal hyperplasia patients were reared female and one child with sex chromosome mosaicism was reared male. Eleven children had masculinizing genitoplasty for penoscrotal or perineal hypospadias (one-stage, three; two-stage, eight). Among one-stage surgeries, one child had meatal stenosis (minor) and one developed both urinary retention (minor) and urethrocutaneous fistula (major) ( Summary Figure ). Among two-stage surgeries, three children developed a major complication: penoscrotal fistula, glans dehiscence or urethral dehiscence. Among 16 children who had feminizing genitoplasty, vaginoplasty was performed in all, clitoroplasty in nine, external genitoplasty in 13, urethroplasty in four, perineoplasty in five, and total urogenital sinus mobilization in two. Two children had minor complications: one had a UTI, and one had both a mucosal skin tag and vaginal mucosal polyp. Two additional children developed a major complication: vaginal stenosis. Cosmesis scores revealed sustained improvements from 6 months post-genitoplasty, as previously reported, with all scores reported as good or satisfied. Discussion In these preliminary data from a multi-site, observational study, parents and surgeons were equally satisfied with the cosmetic outcomes 12 months after genitoplasty. A small number of patients had major complications in both feminizing and masculinizing surgeries; two-stage hypospadias repair had the most major complications. Long-term follow-up of patients at post-puberty will provide a better assessment of outcomes in this population. Conclusion In this cohort of children with moderate to severe atypical genitalia, preliminary data on both surgical and cosmetic outcomes were presented. Findings from this study, and from following these children in long-term studies, will help guide practitioners in their discussions with families about surgical management. Download : Download high-res image (236KB) Download : Download full-size image Summary Figure . Surgical complications at 12-month postoperative follow-up, n = 27. *Among the six complications in the masculinizing surgery group, one patient developed both urinary retention (minor) and urethrocutaneous fistula (major). ǂAmong the five complications in the feminizing surgery group, one patient had both a mucosal skin tag (minor) and vaginal mucosal polyp (minor).

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.

Summary 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. Download : Download high-res image (173KB) Download : Download full-size image Figure . Graphs of significant changes.

Little data exist about the surgical interventions taking place for children with disorders of sex development (DSD). Most studies that have evaluated cosmetic outcomes after genitoplasty have included retrospective ratings by a physician at a single center.The present study aimed to: 1) describe frequency of sex assignment, and types of surgery performed in a cohort of patients with moderate-to-severe genital ambiguity; and 2) prospectively determine cosmesis ratings by parents and surgeons before and after genital surgery.This prospective, observational study included children aged2 years of age, with no prior genitoplasty at the time of enrollment, moderate-to-severe genital atypia, and being treated at one of 11 children's hospitals in the United States of America (USA). Clinical information was collected, including type of surgery performed. Parents and the local pediatric urologist rated the cosmetic appearance of the child's genitalia prior to and 6 months after genitoplasty.Of the 37 children meeting eligibility criteria, 20 (54%) had a 46,XX karyotype, 15 (40%) had a 46,XY karyotype, and two (5%) had sex chromosome mosaicism. The most common diagnosis overall was congenital adrenal hyperplasia (54%). Thirty-five children had surgery; 21 received feminizing genitoplasty, and 14 had masculinizing genitoplasty. Two families decided against surgery. At baseline, 22 mothers (63%), 14 fathers (48%), and 35 surgeons (100%) stated that they were dissatisfied or very dissatisfied with the appearance of the child's genitalia. Surgeons rated the appearance of the genitalia significantly worse than mothers (P 0.001) and fathers (P ≤ 0.001) at baseline. At the 6-month postoperative visit, cosmesis ratings improved significantly for all groups (P 0.001 for all groups). Thirty-two mothers (94%), 26 fathers (92%), and 31 surgeons (88%) reported either a good outcome, or they were satisfied (see Summary Figure); there were no significant between-group differences in ratings.This multicenter, observational study showed surgical interventions being performed at DSD centers in the USA. While parent and surgeon ratings were discordant pre-operatively, they were generally concordant postoperatively. Satisfaction with postoperative cosmesis does not necessarily equate with satisfaction with the functional outcome later in life.In this cohort of children with genital atypia, the majority had surgery. Parents and surgeons all rated the appearance of the genitalia unfavorably before surgery, with surgeons giving worse ratings than parents. Cosmesis ratings improved significantly after surgery, with no between-group differences.

In the past many female patients with congenital adrenal hyperplasia and atypical genitalia were surgically treated with clitoral recession or incomplete reduction of erectile bodies. We report the results of repeat clitoral surgery performed for clitoral pain or enlargement using a nerve sparing reduction clitoroplasty technique.We identified 6 female patients with congenital adrenal hyperplasia who had undergone prior clitoral recession or incomplete reduction elsewhere. They then presented to our center with clitoral pain or enlargement, where they were treated with nerve sparing clitoroplasty between 2000 and 2010. We collected patient reported data relating to clitoral sensation and sexual function outcomes.Mean ± SD age at evaluation for repeat clitoral surgery was 21 ± 7 years and mean age at clitoroplasty was 22 ± 8 years. Median postoperative followup was 9 months (IQR 32-6). All patients showed improvement with resolution of clitoral pain or enlargement.Clitoral pain and enlargement upon arousal can be a major concern for women with clitoromegaly and congenital adrenal hyperplasia after clitoral recession is performed. Our series suggests that clitoral recession or incomplete reduction in childhood may be an inadequate initial solution in the congenital adrenal hyperplasia population due to the potential for future androgen elevation and the possibility of later symptom development. In addition we found that patients may be successfully treated with nerve sparing clitoroplasty, resulting in resolution of pain and ability to engage in sexual activity.

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

Summary Background Feminizing genitoplasty techniques have diversified to encompass the spectrum of atypical genitalia in 46,XX congenital adrenal hyperplasia (CAH) patients. However, long-term outcomes evaluating postoperative continence following complex vaginoplasty remain scarce. Objective The aim was to review our surgical experience and assess postoperative urinary continence outcomes in CAH patients following complex, primary vaginoplasty. Study design We retrospectively reviewed CAH patients who underwent complex, primary vaginoplasty at a single center by a single surgeon from 1996 to 2013. We collected data on clinical characteristics, surgical techniques and postoperative urinary continence outcomes. In patients who had reached toilet-training age, continence outcomes were reviewed. Results Twenty-four patients met the inclusion criteria. The median age at the time of surgery was 8 months (interquartile range [IQR] 1 year–6 months). The median length of follow up was 6 years (IQR 10 years–3 years). These patients required complex reconstruction because of more extensive virilization: total urogenital mobilization (TUM, 10), pull-through vaginoplasty (9), partial urogenital mobilization (3), or pull-through vaginoplasty with partial urogenital mobilization (2). After surgery, 15 out of 24 (62.5%) reported age appropriate toilet-training without further complaints. Seven (29.2%) patients reported daytime incontinence or enuresis that resolved with conservative management. Two patients reported day and night incontinence requiring urethral bulking procedures following TUM. Discussion Twenty-two (91.7%) of our patients achieved continence without further surgical intervention. Of these patients, the TUM patients had serious incontinence issues. Our study represents a review of clinically significant cases from the female CAH population. The limitations of our study include a relatively small sample size and retrospective design. Conclusion Females with CAH and urogenital virilization most often achieved age appropriate toilet-training following vaginoplasty. Daytime incontinence and enuresis resolved without operative management in the vast majority of cases. TUM carries a risk of severe incontinence and may require further procedures to achieve urinary continence. Table . Comparison of vaginoplasty techniques according to presurgical measurements of urogenital sinus and urethra, and postoperative urinary continence outcomes. Vaginoplasty Technique No. Urogenital Sinus Length (cm) Mean ± SD Urethral Length (cm) Mean ± SD Continence Enuresis Voiding Postponement Dysfunctional Voiding Continuous Incontinence Total Urogenital Mobilization 10 2.1 ± 0.6 1.7 ± 0.4 4 2 1 1 2 Pull-through 9 2.7 ± 1.0 1.4 ± 0.7 7 1 1 0 0 Partial Urogenital Mobilization 3 2 ± 0 2.1 ± 0.1 3 0 0 0 0 Pull-through with Partial Urogenital Mobilization 2 2.1 ± 1.0 1.6 ± 0 1 1 0 0 0