Exploratory factor analysis of the Illness Intrusiveness Rating Scale for parents of children with atypical genital appearance due to differences of sex development (DSD).

OBJECTIVE: Illness intrusiveness refers to the subjective cognitive appraisal of a chronic health condition interfering in daily, valued activities and may be highly relevant for parents of children with atypical genital appearance due to differences of sex development (DSD). However, a measure of illness intrusiveness has not been validated for this population. The current study aimed to evaluate the factor structure of the Illness Intrusiveness Scale for Parents (IIS-P) and examine convergent validity. METHODS: Participants included 102 parents (Mage = 33.39 years, SD = 6.48; 58% mothers) of 65 children (<2 years old) diagnosed with DSD participating in a larger, longitudinal study. Parents completed the IIS-P as well as self-report measures of stigma, and anxious and depressive symptoms. An exploratory factor analysis (EFA) was conducted. RESULTS: EFA results supported a 1-factor intrusiveness solution (α = .93), as well as a 2-factor solution measuring intrusiveness on daily living (α = .92) and community connectedness (α = .85). The 1-factor solution and both factors of the 2-factor solution demonstrated significant convergent validity with stigma as well as anxious and depressive symptoms. CONCLUSIONS: Support emerged for both 1- and 2-factor solutions of the IIS-P in parents of children with DSD. The decision to evaluate illness intrusiveness as a total score or to examine the subscales of daily living and community connectedness should be tailored to the unique aims of researchers and clinicians. Future research should conduct a confirmatory factor analysis with both 1- and 2-factor models with larger, more diverse samples of caregivers.

Trends in Presentation and Management of Pediatric Renal Trauma.

OBJECTIVE: We queried the Pediatric Health Information System (PHIS) to evaluate the presentation, management, and outcomes of renal trauma in children from birth to 18 years from 2007-2018. METHODS: Patients were categorized as infants (0-1 year), toddlers (2-4 years), children (5-9 years), preteen (10-14 years), and teens (15-18 years), and patient demographics, grade of injury, and mechanism of injury including sports-related trauma (SRT) were collected. Each group was then evaluated for the level of management and patient outcome. RESULTS: We identified 3720 patients with renal trauma. Our cohort was predominantly White (68.5%), male (68.6%), and required public insurance (38.5%). Most injuries were low grade (86.7%) and managed non-operatively (94.7%). The overall mortality was 51 (1.4%). Younger patients (infants, toddlers, children) were more likely to present with complex injuries and they were more likely to have been involved in a motor vehicle accident. They had higher blood transfusion rates, longer inpatient courses, higher levels of admission acuity, and higher mortality. Patients in the older age groups presented most after SRT. Across all age groups, the most common source of SRT was limited contact sports; however, when considering only teens, full contact sports were the primary offending activity. This review of the PHIS database provides insight to the rates and patterns of pediatric renal trauma in the United States. CONCLUSION: Our data suggest an age-related differences in the presentation, management, and outcomes of pediatric renal trauma patients.

Screening for Anxiety and Depression in Children with Congenital Adrenal Hyperplasia

Objective: Congenital adrenal hyperplasia (CAH) is an inherited condition in which individuals require multiple daily doses of medication and are at risk for life-threatening adrenal crisis. The chronic nature and severity of CAH place children at risk for psychiatric morbidity. The aim was to assess the degree of anxiety and depressive symptoms in children with CAH. Methods: A cross-sectional cohort study of children (7-17 years) with CAH and their caregivers were recruited between May and December 2021. Children with hypothyroidism (HT) and their caregivers served as unaffected controls. Validated mental health questionnaires [Children's Depression Inventory 2 Self Report-Short (CDI-2), Screen for Child Anxiety Related Disorders (SCARED), Patient Health Questionnaire modified for Adolescents (PHQ-A); self and proxy] were completed by participants at one clinic visit. Higher scores indicated greater symptoms of anxiety and depression. Results: A total of 60 children and 56 parents participated. Among the children 34 had CAH (68% female, mean age 11.41±2.5, CAH duration 8.5±4.1) and 26 had HT (73% female, mean age 12.7±2.9 years, HT duration 6.0±4.2 years). There was no increase in anxiety and depression symptoms in children with CAH compared to controls. In sub-analyses, children with CAH and controls reported a greater number of anxiety and depression symptoms than their caregivers on the SCARED and CDI-2, respectively. There was no association between adrenal control and the degree of anxiety or depression symptoms. Conclusion: Children with CAH do not have more symptoms of anxiety or depression compared to controls. Child and caregiver-proxy responses lack agreement, suggesting that children with CAH may continue to benefit from routine mental health evaluation, regardless of voiced caregiver concern.

Decisional Regret Among Caregivers of Infants with Differences of Sex Development Reared as Male.

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.

Parental Uncertainty Scale Factor Structure in Pediatric DSD With Ambiguous Genitalia.

OBJECTIVE: Illness uncertainty is a salient experience for caregivers of children with disorders/differences of sex development (DSD) presenting with ambiguous genitalia; however, no validated measure of illness uncertainty exists for this unique population. Thus, the current study aimed to preliminarily identify the factor structure of the Parental Perception of Uncertainty Scale (PPUS) in caregivers of children with DSD presenting with ambiguous genitalia and examine the convergent validity of the PPUS. METHODS: Participants included 115 caregivers (Mage = 32.12 years, SD = 6.54; 57% mothers) of children (<2-year-olds) diagnosed with DSD participating in a larger, longitudinal study. Caregivers completed the PPUS as well as self-report measures of anxious, depressive, and posttraumatic stress symptoms. An exploratory factor analysis was conducted. RESULTS: Exploratory factor analysis results indicated that a 23-item 1-factor solution was the most parsimonious and theoretically sound factor structure (α = 0.92). Convergent validity analyses demonstrated further support for the use of the 23-item 1-factor solution over the original PPUS factor structure. CONCLUSION: These results demonstrate the preliminary clinical and research utility of the PPUS with caregivers of children with DSD presenting with ambiguous genitalia. The PPUS may benefit from further refinement through qualitative research and item adaptation to capture uncertainties unique to DSD presenting with ambiguous genitalia. In addition, future research should replicate the proposed factor structure using confirmatory factor analysis with a separate, larger sample of caregivers of children with DSD to confirm the factor structure.

Exploring Factors Associated with Decisions about Feminizing Genitoplasty in Differences of Sex Development.

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.

Cost comparison of intra-detrusor injection of botulinum toxin versus augmentation cystoplasty for refractory neurogenic detrusor overactivity in children.

INTRODUCTION: Treatment options for refractory neurogenic detrusor overactivity (NDO) in children include botulinum toxin type A (BTX-A) and augmentation cystoplasty (AC). Although BTX-A is accepted in contemporary pediatric urologic practice, cost and long-term outcomes data for BTX-A are limited relative to the gold standard, AC. The purpose of this study was to compare the projected 10-year costs of AC versus BTX-A. METHODS: We performed a cost analysis from the payer perspective by computationally modeling treatment sequences by a Markov model. In the model, we used probabilities derived from published sources, and costs obtained at a tertiary medical center. The base case was a pediatric patient with refractory NDO. In the model, we assumed biannual BTX-A treatments. Treatment costs over 10 years were compared between immediate AC versus bridging therapy with BTX-A. Using the computational model, we simulated 100,000 instances of 10-year treatment cost for each of the two treatment modalities. The costs for the two treatment approaches were then compared using t-test and Wilcoxon test. RESULTS: The projected median and mean 10-year cost of immediately AC were $51,798.72 (95% CI [$51,798.72, $327,483.80]) and $123,473.4 (SD: $98,085.23) respectfully, while the projected median and mean 10-year cost of bridging therapy with BTX-A prior to proceeding to AC as needed were $74,552.46 (95% CI [$53,188.56, $309,913.07]) and $124,858.80 (SD: $84,495.35) (p < 0.001). CONCLUSIONS: For a typical index pediatric patient with NDO, bridging therapy with intravesical BTX-A is associated with an increased cost compared to immediate AC over a ten-year period.

Decisional regret about surgical and non-surgical issues after genitoplasty among caregivers of female infants with CAH.

INTRODUCTION: Caregivers of female infants with congenital adrenal hyperplasia (CAH) often confront complex medical decision-making (e.g., early feminizing genitoplasty). OBJECTIVE: This study aimed to evaluate the relevant medical decisions and subsequent decisional regret of caregivers following their child's genitoplasty. STUDY DESIGN: Caregivers (N = 55) were recruited from multidisciplinary treatment programs for participation in a longitudinal study. Qualitative data was collected at 6-12 months following feminizing genitoplasty to evaluate caregiver-reported decision points across their child's treatment. Quantitative exploratory analysis evaluated pre-operative predictors of subsequent decisional regret. DISCUSSION: When prompted about their decision-making and potential regret, most caregivers (n = 32, 80%) reported that their daughter's genital surgery was their primary medical decision. Specific themes regarding genital surgery included the timing and type of surgery. Most caregivers reported no decisional regret (62%), with 38% reporting some level of regret. Greater pre-operative illness uncertainty predicted heightened decisional regret at follow-up, p = .001. CONCLUSION: Two-thirds of caregivers of female infants with CAH reported not regretting their decision-making. Nevertheless, over one-third of caregivers reported some level of regret, suggesting the need for improvements in shared decision-making processes. Many, but not all, families reported that this regret was related to surgical decision-making. Reducing caregiver illness uncertainty (e.g., providing clear information to families) may increase their satisfaction with decision-making. Further research is needed to determine how the evolving care practices surrounding early genitoplasty will impact families.

Perioperative stress dose steroid management of children with classical congenital adrenal hyperplasia: Too much or too little?

BACKGROUND: Children with congenital adrenal hyperplasia (CAH) are at risk for adrenal crises in the perioperative period and require higher doses of glucocorticoids. However, there are no specific protocols detailing the appropriate stress dosing required for children with CAH undergoing surgery with anesthesia. OBJECTIVE: To evaluate CAH patients using our current hydrocortisone stress dose surgical protocol. We hypothesized that current clinical protocols may overestimate the endogenous response to perioperative stress. STUDY DESIGN: 14 children with CAH scheduled to have genital surgery and a control group of 10 unaffected children scheduled to have cardiac or urologic surgery (of a similar duration) were evaluated in a prospective observational study. Urinary free cortisol (UFC) and urinary 17-hydroxycorticosteroids (17-OHCS) per body surface area were measured in the postoperative period. RESULTS: UFC levels were significantly higher in CAH patients (115.8 ± 24.6 nmol/m2) than in controls (26.5 ± 12.2 nmol/m2), P < 0.05.17-OHCS levels were also higher in CAH patients than in controls (6.5 ± 0.5 nmol/m2 vs. 3.4 ± 0.5 nmol/m2), P < 0.05). CONCLUSION: In the immediate postoperative period, urinary cortisol and its metabolites are significantly higher in pediatric CAH patients receiving stress dose corticosteroids compared to controls. Results suggest that the amount of hydrocortisone given during our stress dose protocol may be higher than physiologic needs. Future dynamic studies are needed to determine appropriate perioperative and postoperative cortisol requirements in pediatric CAH patients in order to develop optimal stress dose regimens.

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

INTRODUCTION: Differences of sex development (DSD) are congenital conditions in which there is atypical chromosomal, gonadal and/or phenotypic sex. A phenotype of severe genital atypia in patients raised as male is a relatively rare occurrence and standards for management are lacking. Decision making for early surgical planning in these rare cases includes, but is not limited to, degree of atypia, location of testes, and presence of Mϋllerian remnants. In this study we describe surgical approaches and short-term outcomes for masculinizing genitoplasty in moderate to severe genital atypia in young patients raised male, for whom parents opted for early surgery. METHODS: This NIH-sponsored study is an ongoing, observational, multicenter investigation assessing medical, surgical and psychological outcomes in children and their parents affected by atypical genitalia due to DSD. Participants were prospectively enrolled from 12 children's hospitals across the United States that specialize in DSD care. Criteria for child enrollment were a Quigley score of 3-6 in those with a 46, XY or 45,X/46, XY chromosome complement, age <3 years with no previous genitoplasty; patients were included independent of whether genitoplasty was performed. Cosmesis was graded according to a 4-point Likert scale and complications per the Clavian-Dindo classification. RESULTS: Of the 31 participants, 30 underwent hypospadias repair and 1 patient did not undergo a genitoplasty procedure. The majority of participants (22) received a staged hypospadias repair. Seventeen complications were identified in 12 of the 31 children (41%) at 12 months of follow up. Glans dehiscence and urethrocutaneous fistula were the most common complications. Orchiopexy was performed in 14 (44%) and streak gonads were removed in 4 (13%) participants. Both parents and surgeons reported improved cosmesis after surgery when compared to baseline. CONCLUSION: Genitoplasty was chosen by parents for the majority of children eligible for study. No single surgical approach for masculinizing moderate to severe genital ambiguity in young patients with 46, XY or 45,X/46, XY DSD was adopted by all surgeons. Complications occurred in 41% of those who underwent genitoplasty for severe hypospadias. Overall, appearance of the genitals, as determined by parents and surgeons, improved following genitoplasty. Outcomes of early genitoplasty are needed to guide families when making decisions about such procedures for their young children.

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.

Factor Analysis of the Stigma Scale-Parent Version in Pediatric Disorders/Differences of Sex Development.

Stigma is a salient experience for both caregivers/parents and individuals with Disorders/Differences of Sex Development (DSD) as evidenced through qualitative and preliminary quantitative reports. However, few validated measures of associative stigma (i.e., vicarious stigma experienced through close association with someone who is socially stigmatized) for parents of children with DSD exist. The present study aims to (1) determine the factor structure of the adapted Stigma Scale - Parent, and (2) examine convergent validity of the factor structure with measures of parent psychosocial adjustment. Confirmatory factor analytic results revealed two factors: a parent-focused factor and a child-focused factor. The parent-focused factor demonstrated convergent validity with parent adjustment measures, but the child-focused factor did not. Together, these results indicate that parent-focused and child-focused stigma are distinct factors, with parent-focused associative stigma being related to parent adjustment following DSD diagnosis. Future research should further refine this measure to determine predictive validity and clinical value.

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.

Pediatric renal cell carcinoma.

PURPOSE OF REVIEW: To review the presentation, natural history and treatment of renal cell carcinoma in children and young adults with renal cell carcinoma (RCC). RECENT FINDINGS: Complete resection of lymph nodes at the time of tumor resection can improve clinical outcomes and limit the need for adjuvant chemotherapy. Genetic alterations that lead to translocation tumors are a therapeutic target of receptor tyrosine kinase inhibitors. SUMMARY: The incidence of RCC increases with age. Unlike adult patients, young patients with RCC present symptomatically and at higher stage and grade. Translocation tumors predominate RCC in children with biologic activity characterized by early spread to lymph nodes with small primary tumors. Preoperative imaging is poorly sensitive for positive lymph nodes; as such, surgeons should have a low threshold for lymph node sampling during tumor resection. Despite the advanced stage at presentation, the prognosis in children is more favorable than their adult counterparts. Complete resection of lymph nodes at the time of surgical resection improves patient prognosis. Chemotherapy targeting the PI3/AKT pathway has demonstrated clinical benefit.

Predictors of Psychosocial Distress in Parents of Young Children with Disorders of Sex Development.

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.

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

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 (Mage = 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.

Baseline Characteristics of Infants With Atypical Genital Development: Phenotypes, Diagnoses, and Sex of Rearing.

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.

Parent-Rated Severity of Illness and Anxiety among Caregivers of Children Born with a Disorder of Sex Development Including Ambiguous Genitalia.

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.