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Defined as congenital conditions in which development of chromosomal, gonadal, or anatomic sex is atypical, differences or disorders of sex development (DSDs) comprise many discrete diagnoses ranging from those associated with few phenotypic differences between affected and unaffected individuals to those where questions arise regarding gender of rearing, gonadal tumor risk, genital surgery, and fertility. Controversies exist in numerous areas including how DSDs are conceptualized, how to refer to the set of conditions and those affected by them, and aspects of clinical management that extend from social media to legislative bodies, courts of law, medicine, clinical practice, and scholarly research in psychology and sociology. In addition to these aspects, this review covers biological and social influences on psychosocial development and adjustment, the psychosocial and psychosexual adaptation of people born with DSDs, and roles for clinical psychologists in the clinical management of DSDs.

IntroductionAdvocacy and human rights organizations have called for a moratorium on elective surgical procedures until the patient is able to fully participate in the decision-making process. Due to the controversial nature surrounding surgery in differences of sex development (DSD) care, we aimed to assess the factors that teens and adults with DSD, parents, healthcare providers and other allied professionals consider pertinent to complex surgical decisions in DSD.MethodsStakeholders (n=110) in DSD care participated in semi-structured interviews exploring features and potential determinants of successful healthcare outcomes. Audio-recordings were transcribed, coded, and analyzed using qualitative data software. Codes for “Process of Decision-Making” and “Successful Outcome–Surgery/Appearance/Function” were further searched using keywords “surgery,” “procedure,” and “timing.”ResultsSeveral themes were identified: 1) The nature or type of the decision being made; 2) Who should be involved in the decision-making process; 3) Timing of conversations about surgery; 4) Barriers to decision-making surrounding surgery; 5) The elements of surgical decision-making; and 6) The optimal approach to surgical decision-making. Many stakeholders believed children and adolescents with DSD should be involved in the process as developmentally appropriate.ConclusionDSD include a wide range of diagnoses, some of which may require urogenital reconstruction to relieve obstruction, achieve continence, and/or address other anatomical differences whether cosmetic or functional. Adolescents and adults with DSD desired autonomy and to be part of the decision-making process. Parents were divided in their opinion of who should be involved in making elective surgical decisions: the child or parents as proxy medical decision-makers. Providers and other professionals stressed the importance of process and education around surgical decisions. Ongoing research examines how decision-makers evaluate tradeoffs associated with decision options.

IntroductionParents of infants and young children newly diagnosed with differences of sex development (DSD) commonly face medical and psychosocial management decisions at a time when they are first learning about the condition and cannot consult their child for input. The aim of this study was to identify areas of greatest need for parental decisional support.Methods34 parents of children receiving care for DSD at one of three US children’s hospitals participated in a survey to learn what clinical and psychosocial decisions needed to be made on behalf of their child. Parents were then asked to identify and focus on a “tough” decision and respond to questions assessing factors affecting decision-making, decision-making preferences, decisional conflict, and decision regret. Descriptive analyses were conducted.ResultsDecisions about surgery and aspects of sharing information about their child’s condition with others were the two most frequently reported decisions overall, experienced by 97% and 88% of parents, as well as most frequently nominated as tough decisions. Many parents reported mild to moderate levels of decisional conflict (59%) and decision regret (74%). Almost all parents (94%) reported experiencing at least one factor as interfering with decision-making (e.g., “worried too much about choosing the ‘wrong’ option”). Parents universally reported a desire to be involved in decision-making – preferably making the final decision primarily on their own (79%), or together with their child’s healthcare providers (21%). The majority of parents judged healthcare providers (82%) and patient/family organizations (58%) as trustworthy sources of information.DiscussionParents of children with DSD encounter medical, surgical, and psychosocial management decisions. Despite difficulties including emotional distress and informational concerns (including gaps and overload), parents express strong desires to play key roles in decision-making on behalf of their children. Healthcare providers can help identify family-specific needs through observation and inquiry in the clinical context. Together with families, providers should focus on specific clinical management decisions and support parental involvement in making decisions on behalf of young children with DSD.

IntroductionParents and guardians of infants and young children with differences of sex development (DSD) often face numerous health and social decisions about their child’s condition. While proxy health decisions can be stressful in any circumstance, they are further exacerbated in this clinical context by significant variations in clinical presentation, parental lack of knowledge about DSD, irreversibility of some options (e.g., gonadectomy), a paucity of research available about long-term outcomes, and anticipated decisional regret. This study aimed to engage clinicians, parents, and an adult living with DSD to collaboratively co-design a suite of patient decision aids (PDAs) to respond to the decisional needs of parents and guardians of infants and young children diagnosed with DSD.MethodsWe used a systematic co-design process guided by the Ottawa Decision Support Framework and the International Patient Decision Aids Standards (IPDAS). The five steps were: literature selection, establish the team, decisional needs assessment, create the PDAs, and alpha testing.ResultsOur team of health professionals, parents, adult living with DSD and PDA experts, co-designed four PDAs to support parents/guardians of infants or young children diagnosed with DSD. These PDAs addressed four priority decisions identified through our decisional needs assessment: genetic testing, gender of rearing, genital surgery and gonadal surgery. All four PDAs include information for parents about DSD, the options, reasons to choose or avoid each option, and opportunities for parents/guardians to rate the importance of features of each option to clarify their values for these features. Qualitative feedback was positive from our team and when alpha tested with an interprofessional DSD speciality team in a single center.ConclusionsThese PDAs are clinical tools designed to support parents/guardians to be involved in making informed DSD decisions; next steps are to determine parents’ decisional outcomes. While these tools are specific to DSD, the process through which they were co-designed is transferable to co-design of PDAs in other pediatric populations.

PurposeThe ‘DSD Pathways’ study was initiated to assess health status and patterns of care among people enrolled in large integrated healthcare systems and diagnosed with conditions comprising the broad category of disorders (differences) of sex development (DSD). The objectives of this communication are to describe methods of cohort ascertainment for two specific DSD conditions—classic congenital adrenal hyperplasia with 46,XX karyotype (46,XX CAH) and complete androgen insensitivity syndrome (CAIS).ParticipantsUsing electronic health records we developed an algorithm that combined diagnostic codes, clinical notes, laboratory data and pharmacy records to assign each cohort candidate a ‘strength-of-evidence’ score supporting the diagnosis of interest. A sample of cohort candidates underwent a review of the full medical record to determine the score cutoffs for final cohort validation.Findings to dateAmong 5404 classic 46,XX CAH cohort candidates the strength-of-evidence scores ranged between 0 and 10. Based on sample validation, the eligibility cut-off for full review was set at the strength-of-evidence score of ≥7 among children under the age of 8 years and ≥8 among older cohort candidates. The final validation of all cohort candidates who met the cut-off criteria identified 115 persons with classic 46,XX CAH. The strength-of-evidence scores among 648 CAIS cohort candidates ranged from 2 to 10. There were no confirmed CAIS cases among cohort candidates with scores Future plansAs the first cohort of this type, the DSD Pathways study is well-positioned to fill existing knowledge gaps related to management and outcomes in this heterogeneous population. Analyses will examine diagnostic and referral patterns, adherence to care recommendations and physical and mental health morbidities examined through comparisons of DSD and reference populations and analyses of health status across DSD categories.

Objective To examine temporal changes in the number and demographic composition of transgender/gender non-binary (TGNB) population using data from integrated health care systems. Methods Electronic health records from Kaiser Permanente health plans in Georgia and Northern and Southern California were used to identify TGNB individuals, who sought care from January 2006 to December 2014, and the data were analyzed by year, site, age, and sex assigned at birth. Results In 2006, the number of TGNB people (and corresponding 95% CI) per 100 000 population were 3.5 (1.9, 6.3) in Georgia, 5.5 (4.8, 6.4) in Southern California, and 17 (16, 19) in Northern California. In 2014, these frequencies increased to 38 (32, 45), 44 (42, 46), and 75 (72, 78) per 100 000 population, respectively. When analyzed by age, the most rapid increase was observed among persons 18 to 25 years old, and this increase accelerated after 2010. The ratio of transmasculine to transfeminine persons also changed from 1:1.7 in 2006 to 1:1 in 2014 overall and from 1:1 in 2006 to 1.8:1 in 2014 among persons Conclusion This analysis confirms previous observations that the proportion of TGNB people is growing, especially among young adults. The composition of the TGNB population is also changing from predominantly transfeminine to roughly 1:1 overall and to predominantly transmasculine in children and adolescents.

Background There is a high reported rate of sexual dysfunction among women with spina bifida, but little is known about the etiology of this or how sexual satisfaction could be improved. Aim To identify, through the words of women with spina bifida, perceived causes of diminished sexual satisfaction and recommendations to optimize partnered sexual encounters. Methods In this qualitative study, we conducted semi-structured individual interviews with 22 women with spina bifida (median age 26.5 years, range 16–52 years) who have had a romantic partner. Using Grounded Theory, interviews were independently coded by 3 reviewers. Disagreements were resolved by consensus. Outcomes We identified overlapping themes of issues women experienced during sexual intimacy and strategies they learned to improve sexual encounters. Results 7 salient themes emerged from the data: (i) fear of rejection with resulting difficulty setting boundaries and the risk of coercion; (ii) conflict between spontaneity and self-care in sexual encounters; (iii) worry about incontinence during sex; (iv) trial and error in learning optimal sexual positions; (v) decreased genital sensation; (vi) safety considerations; and (vii) sharing advice with other women with spina bifida. Clinical Implications As sexual satisfaction is influenced by physical features as well as psychological, interpersonal, and sociocultural factors, optimizing sexual satisfaction of women with spina bifida is best managed with a holistic approach utilizing a biopsychosocial model. Strengths & Limitations The sample included women with a diverse range of functional impairments. Women were forthright with their comments and thematic saturation was reached. Recruitment was primarily from a single Midwestern institution, which may have limited sampled perspectives. Conclusion While women with spina bifida encounter challenges during sexual encounters, strategies focused on improving communication with partners and addressing specific physical considerations can potentially enhance their sexual experiences.

Background There is a paucity of tools that can be used in routine clinical practice to assess the psychosocial impact of Disorders/Differences of Sex Development (DSD) on parents and children. Objective To evaluate the use of short Parent Self-Report and Parent Proxy-Report questionnaires that can be used in the outpatient setting. Methods Previously validated DSD-specific and generic items were combined to develop a Parent Self-Report questionnaire and a Parent Proxy-Report questionnaire for children under 7 years. Of 111 children approached at one tertiary paediatric hospital, the parents of 95 children (86%) with DSD or other Endocrine conditions completed these questionnaires. Results Questionnaires took under 10 min to complete and were found to be easy to understand. Compared to reference, fathers of children with DSD reported less stress associated with Clinic Visits (p = 0.02) and managing their child’s Medication (p = 0.04). However, parents of children with either DSD or other Endocrine conditions reported more symptoms of Depression (p = 0.03). Mothers of children with DSD reported greater Future Concerns in relation to their child’s condition (median SDS − 0.28; range − 2.14, 1.73) than mothers of children with other Endocrine conditions (SDS 1.17; − 2.00, 1.73) (p = 0.02). Similarly, fathers of children with DSD expressed greater Future Concerns (median SDS -1.60; − 4.21, 1.00) than fathers of children with other Endocrine conditions (SDS 0.48; − 2.13, 1.52) (p = 0.04). Conclusion DSD was associated with greater parental concerns over the child’s future than other Endocrine conditions. Brief parent-report tools in DSD can be routinely used in the outpatient setting to assess and monitor parent and patient needs.

Contains fulltext : 244176.pdf (Publisher’s version ) (Closed access) Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders affecting cortisol biosynthesis. Reduced activity of an enzyme required for cortisol production leads to chronic overstimulation of the adrenal cortex and accumulation of precursors proximal to the blocked enzymatic step. The most common form of CAH is caused by steroid 21- hydroxylase deficiency due to mutations in CYP21A2. Since the last publication summarizing CAH in Endocrine Reviews in 2000 there have been numerous new developments. These include more detailed understanding of steroidogenic pathways, refinements in neonatal screening, improved diagnostic measurements utilizing chromatography and mass spectrometry coupled with steroid profiling, and improved genotyping methods. Clinical trials of alternative medications and modes of delivery have been recently completed or are under way. Genetic and cell-based treatments are being explored. A large body of data concerning long-term outcomes in patients affected by CAH, including psychosexual well-being, has been enhanced by the establishment of disease registries. This review provides the reader with current insights in congenital adrenal hyperplasia with special attention to these new developments.

Objective Randomized-controlled trials (RCTs) in pediatric psychology form the foundation for evidence-based treatment and best practices in the field. Relying heavily on continuous outcome measures and group comparisons, questions concerning meaningful clinical change and treatment response rates remain open. This targeted review aimed to provide an initial description of the current state of intervention research in pediatric psychology in terms of attention to meaningful clinical change and efforts to assess and characterize participants in terms of treatment responsivity; Methods Online databases were used to identify a sample of RCT published in the Journal of Pediatric Psychology from 2010 to 2021 using the term “randomized” in the title. Using predefined eligibility and exclusion criteria, 43 studies were identified and analyzed with regard to characteristics of intervention, population, measurement, data reporting, and reference to indicators of clinical significance, meaningful change, treatment responsivity rates, and predictors; Results 26 studies (60%) made no reference at all to meaningful clinical change, treatment response criteria and rates, or characteristics of treatment responders. 15 studies (35%) reported measures of meaningful change in their interpretation of group differences, to calculate sample size, in relation to baseline data only, or in describing a measure. 2 studies (5%) reported criteria for assessing meaningful change to determine individual response rates and characteristics of responders; Conclusions These findings highlight the need for greater emphasis on defining standards and analyzing treatment outcome research in terms of metrics of meaningful change and treatment response in order to better target intervention and optimize limited resources.

Introduction: People with differences of sex development (DSD) and their families need education about these conditions while receiving emotional and peer support to participate in shared decision-making, reduce social isolation, and optimize physical and psychosocial outcomes. Barriers to education and support include limited knowledge and awareness by healthcare providers, tension among patient and medical communities, varied quality of educational resources, and the sensitive nature of DSD. We aimed to create an electronic repository of vetted quality online resources about DSD. Methods: The electronic resource repository (e-RR) was a collaboration between affected individuals and advocates and healthcare providers in the DSD-Translational Research Network (DSD-TRN), an NIH-supported consortium of US teams committed to standardizing and optimizing care in DSD. The e-RR development and ongoing growth involved: (1) identification of resources by the project team (3 advocates and 1 physician), (2) evaluation and feedback by DSD-TRN clinical teams, (3) creation of the e-RR, and (4) review and revision. Twitter-like descriptions accompanied each entry; resources were categorized by target age, audience, and condition. Results: Thirty-seven web-based educational, peer and advocacy support, and clinician-oriented resources were reviewed. Eight of 10 DSD-TRN teams responded to a survey regarding resource inclusion. Awareness of individual resources varied widely. Consensus was achieved when opinions differed; 30 resources were included. The e-RR is available online and as a downloadable booklet at http://www.accordalliance.org/resource-guide/. Conclusion: The e-RR increases awareness of and access to vetted educational and support resources for those with DSD and healthcare providers. It represents important collaboration between advocates and providers.

Transitioning to adult health care and functioning is crucial for youth and young adults with special health care needs, such as those with Turner Syndrome (TS). The International Turner Syndrome Consensus Group developed clinical practice guidelines to improve this transition. This study sought to evaluate how effectively they have been implemented and whether they align with the priorities of women with TS and families of girls and women with TS. A web-based survey was offered to those affiliated with major TS support organizations, with 1,338 successfully responding [n = 543 women (≥18 years); n = 232 parents of a woman (≥18 years); and n = 563 parents of a girl with TS (

Parents of infants born with differences in sex development (DSD) face many difficult decisions. As part of a larger project designed to develop educational interventions to promote shared decision making, this study assessed healthcare professionals' (HCPs) perceptions of parental decision-making needs when an infant is born with a DSD.A cross-sectional web-based survey following the Ottawa Decision Support Framework was conducted in two waves, between October 2020 and June 2022. Survey domains included: common DSD decisions, indicators of parents' decisional needs, and resources and approaches to support parental decision making. Eligible participants were HCPs working within interprofessional pediatric DSD centers in the USA. Up to three reminders were sent. Descriptive analysis was conducted.71 HCPs participated; most (90%) reported parents experience signs of decisional conflict including feeling unsure, worrying about what could go wrong, and fear of choosing a "wrong," irreversible option. The majority (90%) reported parents experience strong emotions interfering with their receptivity to information or deliberation. The majority (70%) identified inadequate parental knowledge of the DSD as a barrier to decision making, coupled with information overload (90%). HCPs rated several factors as "very" important, including: parents having information on benefits, harms, and other features of options (93%), having information about all the available options (87%), and having access to providers to discuss the options (84%). Providers endorsed using a variety of approaches to support parents' decision making; however, access to decision aids was not universally rated as highly important (very, 44%; somewhat, 46%; a little, 10%).Overall, HCPs expressed favorable attitudes toward supporting active parental participation in medical decision making. Opportunities for enhanced support of shared decision making included: a) recognizing and addressing parental emotional distress and informational overload at a time when parents need to consider complex options for their infant or young child; and b) the need for HCPs to encourage values clarification in decision-making encounters with parents.

Introduction Women with spina bifida are sexually active, but most never discuss this topic with providers. Aim To determine what women with spina bifida understand about their sexual health, how they learned about it, what questions they have, and their experiences with their sexuality. Methods For this qualitative study, women with spina bifida ages 16 and older without marked developmental delay were individually interviewed. 25 women with spina bifida participated (mean age 27.1 years, range 16–52). Interviews were independently coded for themes by 3 reviewers, using Grounded Theory, with disagreements resolved by consensus. Main Outcome Measures We identified overlapping themes regarding the women’s perception and experience of their sexuality and sexual health education. Results 17 of the 25 (68%) participants had been or were currently sexually active. 5 themes emerged regarding their understanding of their sexuality and their sexual experiences: (i) being perceived as asexual, (ii) sources for sex education, (iii) need for spina bifida–specific sex education, (iv) impact of spina bifida–specific features on sexual encounters, and (v) perceived relationship between low sexual self-confidence and risk for sexual assault. Clinical Implications Women with spina bifida are sexual beings, but they are perceived as asexual by providers, which prevents them from getting adequate sexual health education and leaves them with misconceptions and unanswered questions, as well as vulnerable to sexual abuse. Strength & Limitations The strengths of this study include the diversity of women interviewed, including their age, severity of disability, and experiences with their sexuality, as well as the ability to reach thematic saturation. The limitation of this study is that most women received treatment at a single Midwestern tertiary referral center in the United States. Conclusion Including sexual health discussions in the usual care of women with spina bifida is critical to enhancing their sexual confidence and experience and preventing sexual abuse.

People with cloacal malformation and 46,XX cloacal exstrophy are at risk of developing Müllerian outflow tract obstruction (OTO). Management of OTO requires expertise of many medical and surgical specialties. The primary presenting symptom associated with OTO is cyclical and later continuous pain and can be initially quelled with hormonal suppression as a temporizing measure to allow for patient maturation. The decision for timing and method of definitive treatment to establish a patent outflow tract that can also be used for penetrative sexual activity and potential fertility is a complicated one and incredibly variable based on patient age alone. To understand the management approach to OTO, we put forth five phases with associated recommendations: (1) caregiver and patient education and evaluation before obstruction; (2) presentation, diagnosis, and symptom temporization; (3) readiness assessment; (4) peri-procedural management; (5) long-term surveillance. This review will emphasize the importance of interdisciplinary team management of the complex shared medical, surgical, and psychological decision making required to successfully guide developing patients with outflow obstruction secondary to cloacal malformations and cloacal exstrophy through adolescence.

PURPOSE: To define, benchmark, and publicize elements of quality care (i.e., “good practices”) for pediatric patients with disorders/differences of sex development (DSD). METHODS: Principles of quality care were identified by literature review; consensus exists for 11 good practices and adherence was evaluated through online survey of 21 North American clinical sites. RESULTS: Strong uptake was observed for many practices, particularly specialty participation (n ≥17 of 21 sites for most core specialties); point of contact (n =18); expertise in gender dysphoria/dissatisfaction (n =20); and DSD-specific continuing medical education (n =18). Greater variability was apparent for frequency of peer support referrals (n =12 universally practiced); standardized questionnaires for routine assessment of psychosocial adaptation (n =13) and gender development (n =10); consistently clarifying patient/family values in decision-making (n =15); genital exam protocols that exclude trainee education as primary reason (n =15); and internal patient-tracking efforts (n =5 to 10 of 20 sites). CONCLUSION: This study employed a novel approach to designate DSD good practices and identified areas of consistency and variation in these DSD clinical practices. Good practice benchmarking facilitates quality assessment within and across sites, promotes continuous improvement, and empowers stakeholders in locating and delivering high quality care.

BACKGROUND: Understanding the magnitude of mental health problems, particularly life-threatening ones, experienced by transgender and/or gender nonconforming (TGNC) youth can lead to improved management of these conditions. METHODS: Electronic medical records were used to identify a cohort of 588 transfeminine and 745 transmasculine children (3–9 years old) and adolescents (10–17 years old) enrolled in integrated health care systems in California and Georgia. Ten male and 10 female referent cisgender enrollees were matched to each TGNC individual on year of birth, race and/or ethnicity, study site, and membership year of the index date (first evidence of gender nonconforming status). Prevalence ratios were calculated by dividing the proportion of TGNC individuals with a specific mental health diagnosis or diagnostic category by the corresponding proportion in each reference group by transfeminine and/or transmasculine status, age group, and time period before the index date. RESULTS: Common diagnoses for children and adolescents were attention deficit disorders (transfeminine 15%; transmasculine 16%) and depressive disorders (transfeminine 49%; transmasculine 62%), respectively. For all diagnostic categories, prevalence was severalfold higher among TGNC youth than in matched reference groups. Prevalence ratios (95% confidence intervals [CIs]) for history of self-inflicted injury in adolescents 6 months before the index date ranged from 18 (95% CI 4.4–82) to 144 (95% CI 36–1248). The corresponding range for suicidal ideation was 25 (95% CI 14–45) to 54 (95% CI 18–218). CONCLUSIONS: TGNC youth may present with mental health conditions requiring immediate evaluation and implementation of clinical, social, and educational gender identity support measures.

Objective To provide urologists with a practical guide for how to provide sexual health counseling to girls and women with spina bifida. Methods The recommendations and research of several sources were synthesized to create this guidance, including clinical guidance from the Spina Bifida Association and American College of Obstetricians, the current literature on the sexual health of girls and women with spina bifida, and the multidisciplinary experience of the authors. Results Sexual health education should be viewed by urologists as a continuous discussion, starting in early childhood and gradually building through adolescence. Developing a plan for when and how to bring it up, utilizing parents as educational partners, identifying who will provide the detailed one-on-one counseling if not the primary urologist, establishing a referral network for specialized care (eg, adolescent gynecologist, physical therapist, or sex therapist), becoming familiar with how spina bifida impacts sexual health, and being prepared for challenges are key to providing these girls and women with competent sexual health education. Urologists should also screen for abuse at each visit and be familiar with reporting and resources for when abuse is identified. Conclusion This guidance can serve to direct urologists in providing competent sexual health education to girls and women with spina bifida. This will ensure these girls and women receive the basic education they need, and that they can be referred to appropriate sexual health experts as indicated.

Summary Introduction Utilizing a qualitative phenomenological design, the Defining Successful Outcomes and Trade-offs study examined stakeholder perspectives regarding optimal healthcare delivery and outcomes for individuals with a difference/disorder of sex development (DSD). Objective We describe study methods and provide an overview of themes and subthemes. Study design Interviews were conducted with individuals with a DSD (n=24), parents of those with a DSD (n=19), healthcare providers (n=37), and others (n=30). Primary questions regarding clinical management of patients with DSD were: “What is a successful outcome?” and “How do you achieve it?” Results Themes included: understanding of DSD diagnosis and self-efficacy in management is necessary but complex; patient and family psychological well-being; support from others versus being stigmatized; affected person experiences physical health and accepts the implications of their condition; complexities in DSD decision making, roles and expectations; and knowledgeable providers and multidisciplinary teams are essential, notwithstanding persisting barriers (See Summary Figure). Participants recognized competing values potentially forcing trade-offs in decision making. Discussion. Recognition of diverse and sometimes conflicting perspectives regarding optimal pathways of care and outcomes – both within and among those with DSD and their providers –promises to enhance shared decision making. Conclusion Diverse perspectives and perceptions of trade-offs associated with DSD healthcare emphasize the need to tailor care for patients and families.

Genital surgery in children with ambiguous or atypical genitalia has been marred by controversies about the appropriateness and timing of surgery, generating clinical uncertainty about decision making. Since 2006, medical experts and patient advocates have argued for putting the child’s needs central as patient-centered care. Based on audio recordings of 31 parent–clinician interactions in three clinics of disorders of sex development, we analyze how parents and clinicians decide on genital surgery. We find that clinicians and parents aim for parent-centered rather than infant-centered care. Parents receive ambivalent messages about surgery: while clinicians express caution, they also present the surgery as beneficial. We examine how parents and clinicians reach agreement about surgery—differentiating parents who push strongly for surgery from parents who do not express any preconceived preferences about surgery and parents who resist surgery. We conclude that clinicians use clinical uncertainty about surgery strategically to direct parents toward perceived clinically appropriate decisions.

Background Transgender people and persons with disorders of sex development (DSD) are two separate categories of gender minorities, each characterized by unique cancer risk factors. Although cancer registry data typically include only two categories of sex, registrars have the option of indicating that a patient is transgender or has a DSD. Methods Data for primary cancer cases in 46 states and the District of Columbia were obtained from the North American Association of Central Cancer Registries (NAACCR) database for the period 1995–2013. The distributions of primary sites and categories of cancers with shared risk factors were examined separately for transgender and DSD patients and compared to the corresponding distributions in male and female cancer patients. Proportional incidence ratios were calculated by dividing the number of observed cases by the number of expected cases. Expected cases were calculated based on the age- and year of diagnosis-specific proportions of cases in each cancer category observed among male and female patients. Results Transgender patients have significantly elevated proportional incidence ratios (95% confidence intervals) for viral infection induced cancers compared to either males (2.3; 2.0–2.7) or females (3.3; 2.8–3.7). Adult DSD cancer patients have a similar distribution of primary sites compared to male or female patients but DSD children with cancer have ten times more cases of testicular malignancies than expected (95% confidence interval: 4.7–20). Conclusion The proportions of certain primary sites and categories of malignancies among transgender and DSD cancer patients are different from the proportions observed for male or female patients.

Although many next-generation sequencing platforms are being created around the world, implementation is facing multiple hurdles. A strong hurdle to the full adherence of clinical teams to the Disorders of Sex Development Translational Research Network (DSD-TRN) guidelines for standardization of reporting and practice is the current lack of integration of the standardized clinical forms into the various electronic medical records at different sites. Time allocated to research is also limited. In spite of these hurdles, genetic information for half the enrolled patients is already available in the DSD-TRN registry, and early results demonstrate the value of such an infrastructure.

Sex assignment at birth remains one of the most clinically challenging and controversial topics in 46,XY disorders of sexual development (DSD). This is particularly challenging in deficiency of 5-alpha reductase type 2 given that external genitalia are typically undervirilized at birth but most individuals virilize at puberty to a variable degree. Historically, most individuals with 5-alpha reductase deficiency were raised females. However, reports that over half of patients who underwent a virilizing puberty adopted an adult male gender identity have challenged this practice. Consensus guidelines on assignment of sex of rearing at birth are equivocal or favor male assignment in the most virilized cases. While a male sex of rearing assignment may avoid lifelong hormonal therapy and/or allow the potential for fertility, female sex assignment may be more consistent with external anatomy in the most severely undervirilized cases. Herein, we describe five patients with 46,XY DSD due 5-alpha-reductase type 2 deficiency, all with a severe phenotype. An inter-disciplinary DSD medical team at one of two academic centers evaluated each patient. This case series illustrates the complicated decision-making process of assignment of sex of rearing at birth in 5-alpha reductase type 2 deficiency and the challenges that arise when the interests of the child, parental wishes, recommendations of the medical team and state law collide.

Decisions about how best to clinically care for young children born with Disorders of Sex Development (DSD) can be challenging because some decisions are irreversible, have lasting physical and mental health effects, and are frequently made before the affected person is able to participate in decision-making. This multi-stage study involved (1) the development of a web-based decision support tool (DST) for parents of infants or young children and the clinicians caring for them; (2) the assessment of communications and decision making between DSD specialists and parents both before and after introduction of the DST; and (3) interviews with a broad range of stakeholders regarding optimizing the DST and integrating it into usual care. Experience over the course of the 3 stages of this research suggests the need for further refinement of the DST to increase acceptability to all stakeholder groups, the necessity to address misperceptions by providers that they are already accomplishing all aspects of SDM in regular care without a DST and misunderstandings by parents that decisions are unnecessary because only a single option is apparent, and to better incorporate the tool into regular clinic workflow.

Based on audio recordings of consultations in three U.S. paediatric multidisciplinary Disorders of Sex Development-Intersex clinics, we examine the process of gender assignment of children with "atypical" genitalia. Rather than fully determined by the presence of biological sex traits, the gender assignment discussion hinges on how clinician and parent collaboratively imagine different aspects of what constitutes being a gendered person. They orient towards the potential for sexual intimacy, fertility, gender dysphoria, stigma, and gonadal cancer risk. While these futures remain inherently uncertain, clinicians and parents plan to mobilise gender socialisation and medical interventions to render their choice of gender a self-fulfilling prophecy. Gender destinies capture that the child always had a specific, innate gender awaiting discovery, and presumes a project for medical and social monitoring, intervention, correction, and optimisation.

Background As more women with spina bifida (SB) enter their reproductive years, the number having children is significantly increasing. However, little is known about their understanding of their ability to get pregnant or their experiences in considering, planning, or interacting with providers during a pregnancy. Objective We sought to determine what women have been told and understand about their reproductive health, their attitudes towards having children, and their experiences interacting with providers when seeking reproductive health care. Methods In this exploratory study employing qualitative research methods and following Grounded Theory, interviews with women with SB 16 years or older were transcribed verbatim and analyzed by three coders. Results Interviews of 25 women with SB ages 16–52 (median 26) revealed the following themes about their reproductive health perceptions and experiences: 1) poor understanding of reproductive health and potential, 2) interest in having a family, 3) facing provider's opposition to their reproductive goals, 4) going into pregnancy and delivery unprepared, 5) the importance of provider support for reproductive goals. Five women experienced an unintended pregnancy. Conclusions Although having children is important to most women with SB in this study, they report a poor understanding of their reproductive potential with several noting unintended pregnancies. They feel uninformed and unprepared during pregnancy and face discouragement from providers. Those experiencing supportive providers report a more positive experience. This demonstrates the urgent need to educate women with SB about their reproductive health and the providers who care for them how to support and counsel these women.

Objectives Consumers rely on online health information, particularly for unusual conditions. Disorders of Sex Development (DSD) are complex with some aspects of care controversial. Accurate web-based DSD information is essential for decision-making, but the quality has not been rigorously evaluated. The purpose of the present study was to assess the quality of online health information related to DSD presented by 12 pediatric institutions comprising the NIH-sponsored DSD-Translational Research Network (DSD-TRN). Methods DSD-TRN sites identified team webpages, then we identified linked webpages. We also used each institution search engine to search common DSD terms. We assessed webpages using validated tools: the Simple Measure of Gobbledygook (SMOG) determined reading level, the Patient Education Materials Assessment Tool (PEMAT) evaluated content for understandability and actionability, and the DISCERN tool assessed treatment decision-making information (for hormone replacement and surgery). We developed a “Completeness” measure which assessed the presence of information on 25 DSD topics. Results The SMOG reading level of webpages was at or above high-school grade level. Mean (SD) PEMAT understandability score for Team Pages and Team Links was 68% (6%); on average these pages met less than 70% of the understandability criteria. Mean (SD) PEMAT actionability score was 23% (20%); few patient actions were identified. The DISCERN tool determined that the quality of information related to hormone treatment and to surgery was poor. Sites’ webpages covered 12–56% of the items on our Completeness measure. Conclusions Quality of DSD online content was poor, and would be improved by using a variety of strategies, such as simplifying word choice, using visual aids, highlighting actions patients can take and acknowledging areas of uncertainty. For complex conditions such as DSD, high-quality web-based information is essential to empower patients (and caregiver proxies), particularly when aspects of care are controversial.

INTRODUCTION AND OBJECTIVES:Women with spina bifida (SB) are sexually active, but most never discuss this topic with providers. This leaves them vulnerable to potentially harmful misconceptions and...

All 50 United States and the District of Columbia incorporate newborn screening for congenital adrenal hyperplasia (CAH) caused by 21-hydroxylase deficiency. Filter paper blood specimens are typically collected in full-term infants on day two of life for 17-hydroxyprogesterone (17OHP) fluoroimmunoassay (DELFIA). Prematurity, low birth weight, or critical illness are known to cause falsely elevated results. Protocols differ for each state laboratory as to assay cut-points by birthweight or gestational age, which are key in determining the positive predictive value. As a preliminary step to quality improvement, we investigated the diversity of approaches to CAH screening nationally among the states representing members of the DSD-Translational Research Network. Ten data sets were returned from a survey circulated to state laboratory directors with qualitative and quantitative information about individual screening programs. Disease incidence generally correlated with published worldwide data, ranging from 1:10,000 to 1: 28,500 live births. Screening results are typically reported by direct phone call to the designated healthcare provider and/or coordinator at each referral center, followed by a faxed written report. Specialists are notified of unequivocally high 17OHP results; however, borderline results are not usually referred to a pediatric endocrinologist. Only one state laboratory required a mandatory second screen for healthy term infants regardless of initial screen result; most did for infants in intensive care units. Nine of 10 programs utilized birthweight cut-points, but cutoffs for normal results varied widely - from 17OHP values of 25 to 75 ng/mL for birthweights >2250-2500 grams. One program used gestational age cut-points. The positive predictive values for term or normal birthweight infants varied from 1.2 to 9.6%, implying differences in sensitivity and/or specificity of screening between states. There was no apparent correlation between the total number of infants each state screened annually, assay cut-point and positive predictive value. Data were unavailable for negative predictive values. Conclusion: There is a need for standardization of newborn screening protocols for CAH to improve the positive predictive value. Future efforts will be directed to expanding this survey and determining best practices. Unless otherwise noted, all abstracts presented at ENDO are embargoed until the date and time of presentation. For oral presentations, the abstracts are embargoed until the session begins. Abstracts presented at a news conference are embargoed until the date and time of the news conference. The Endocrine Society reserves the right to lift the embargo on specific abstracts that are selected for promotion prior to or during ENDO.

Study Objective To examine the process and emotional effect of disclosing a personal diagnosis of Mayer-Rokitansky-Kuster-Hauser syndrome (MRKH) to peers during adolescence and young adulthood. Design and Setting Qualitative study using semistructured telephone interviews. Participants Nine women diagnosed with MRKH, aged 21-31 years, recruited via patient support groups. Interventions and Main Outcome Measures Motivators and barriers to self-disclosure of a diagnosis of MRKH to peers and partners. Results Motivators to tell peers about a diagnosis included significant trust in the relationship (whether platonic or romantic), needing to unload the experienced burden of diagnosis, and a sense of responsibility to be forthcoming if a long-term romantic future was desired. The most common barrier to telling others was fear of rejection or being labeled a “freak.” Although most participants did not receive guidance from a health care provider regarding approaches to sharing diagnostic information with others, almost all participants reported wishing they had received such counseling. Conclusion A diagnosis of MRKH elicits recurring anxieties about disclosure and the effect on relationships that are inadequately addressed by health care providers. Guidance and support on disclosure to friends and romantic partners should be provided whenever possible.

Despite major discoveries, traditional biomedical research has not always addressed topics perceived as priorities by patients and their families. Patient-centered care is predicated on research taking such priorities into account. The present study surveyed women with Turner syndrome (TS; 18+ years; n = 543), parents of women with TS (n = 232), and parents of younger daughters with TS (

The expansion of growth hormone therapy over the last 3 decades has allowed for treatment of short stature for more children, resulting in increased height for many. However, treatment of idiopathic short stature remains controversial. Treatment decisions for disabled children with idiopathic short stature are even more complicated. We discuss a specific case of short stature in a disabled child and grapple with the ethical issues involved in the use of growth hormone.

* Abbreviation: DSD — : disorder and/or difference of sex development Access to psychosocial care is currently inadequate for patients and families affected by a disorder of sex development (DSD; some individuals prefer the terms “intersex” or “differences of sex development,” and some do not identify with any of the labels). In 1 recent study of parents of infants with a DSD, only half of those parents who identified a need for emotional support received what they perceived to be adequate psychological care.1 This is troubling in that a case can be made that the primary challenges faced by parents of children newly diagnosed with a DSD are informational and psychosocial, not medical or surgical. Even in the case of life-threatening congenital adrenal hyperplasia, the most common cause of a 46,XX DSD, clinical management pathways are well established and driven by clinical practice guidelines not dissimilar from, for example, type 1 diabetes. In a DSD, however, families grapple with a variety of challenges beyond understanding complex medical and/or genetic information, including stigma-related concerns, coping with anatomical differences (whether or not surgery has occurred), surgical complications, lack of clarity regarding gonadal tumor risk, uncertainty about the stability of the child’s gender identity, fertility potential, and the disruptions and burdens associated with repeated medical visits. Detection of a DSD at birth is commonly a time of particularly acute distress; parents report high levels of emotional upheaval and cognitive confusion that often occurs concomitant with medical and surgical decision-making. There are close to 80 single-gene etiologies for isolated or syndromic DSDs.2 Major categories include genes affecting sex determination (eg, … Address correspondence to Michelle M. Ernst, PhD, Division of Behavioral Medicine and Clinical Psychology, Cincinnati Children’s Hospital Medical Center, 3333 Burnet Ave, Cincinnati, OH 45229. E-mail: michelle.ernst{at}cchmc.org

Background/Aims: Utilization of a psychosocial screener to identify families affected by a disorder/difference of sex development (DSD) and at risk for adjustment challenges may facilitate efficient use of team resources to optimize care. The Psychosocial Assessment Tool (PAT) has been used in other pediatric conditions. The current study explored the reliability and validity of the PAT (modified for use within the DSD population; PAT-DSD). Methods: Participants were 197 families enrolled in the DSD-Translational Research Network (DSD-TRN) who completed a PAT-DSD during a DSD clinic visit. Psychosocial data were extracted from the DSD-TRN clinical registry. Internal reliability of the PAT-DSD was tested using the Kuder-Richardson-20 coefficient. Validity was examined by exploring the correlation of the PAT-DSD with other measures of caregiver distress and child emotional-behavioral functioning. Results: One-third of families demonstrated psychosocial risk (27.9% “Targeted” and 6.1% “Clinical” level of risk). Internal reliability of the PAT-DSD Total score was high (α = 0.86); 4 of 8 subscales met acceptable internal reliability. A priori predicted relationships between the PAT-DSD and other psychosocial measures were supported. The PAT-DSD Total score related to measures of caregiver distress (r = 0.40, p < 0.001) and to both caregiver-reported and patient self-reported behavioral problems (r = 0.61, p < 0.00; r = 0.37, p < 0.05). Conclusions: This study provides evidence for the reliability and validity of the PAT-DSD. Given variability in the internal reliability across subscales, this measure is best used to screen for overall family risk, rather than to assess specific psychosocial concerns.

Carriers of isodicentric Y (idicY) mosaicism exhibit a wide range of clinical features, including short stature, gonadal abnormalities, and external genital anomalies. However, the phenotypic spectrum for individuals carrying an idicY and a 46, XX cell line is less clearly defined. A more complete description of the phenotype related to idicY is thus essential to guide management related to pubertal development, fertility, and gonadoblastoma risk in mosaic carriers. Findings from the evaluation of twin females with an abnormal karyotype, 48, XX, +idic(Yq) x2/47, XX, +idic(Yq)/46, XX, are presented to highlight the importance of interdisciplinary care in the management of multifaceted disorders of sex development.

Some proponents of recombinant human growth hormone (rhGH) treatment in growth hormone-sufficient children cite height, as an isolated physical characteristic, as being associated with psychosocial morbidity. Others question the reliability of the evidence underpinning the quality-of-life rationale for treatment as well as the bioethics of rhGH treatment. The following questions are addressed: (1) Is short stature an obstacle to positive psychosocial adjustment? and (2) Does increasing height with rhGH treatment make a difference to the person's psychosocial adaptation and quality of life? Three clinical case examples are used to illustrate the complexities associated with decision-making surrounding rhGH use.

Syndromes resulting in Disorders of Sex Development (DSD) are individually rare. Historically, this fact has hindered both clinical research and the delivery of evidence-based care. Recognizing the need for advancement, members of European and North American medical societies produced policy statements, notably the Consensus Statement on Management of Intersex Disorders, which recognize that optimal healthcare in DSD requires multidisciplinary teams in conjunction with networking of treatment centers and continued development of patient registries. This paper summarizes efforts in Europe and the U.S. toward creating networks focused on expanding discovery and improving healthcare and quality of life outcomes in DSD. The objectives and function of registry-based networks (EuroDSD/I-DSD), learning collaboratives (DSD-net), clinical outcomes research (DSD-Life), and networking hybrids (DSD-TRN) are reviewed. Opportunities for, and barriers to standardization in research and care are highlighted in light of practical considerations, for example, limitations in reliably classifying anatomic phenotypes and gaps in behavioral health staffing resources. The role of patient-reported outcomes is considered, with emphasis on integrating patient perspectives, given findings of limited agreement in outcome ratings by healthcare providers and patients. Finally, the characteristics of clinical centers likely to deliver the highest quality outcomes are discussed.

Advances in therapeutics for specific conditions have contributed to a categorical psychological approach to chronic diseases that affect children. Consensus statements and clinical guidelines recognize stress associated with disorders of sex development (DSD) for patients and their caregivers - yet much remains to be learned concerning the social adjustment, mental health, and quality of life of affected children and their families. We present preliminary data on the psychosocial comorbidities of caregivers of children with DSD, including stigma, isolation, stress, anxiety, and depressive symptomatology. Evidence is offered in support of individualized psychological approaches for families according to such variables as: 1) gender of the caregiver, 2) gender of the affected child and 3) presence of genital ambiguity at birth. Development of feasible, targeted interventions to ameliorate psychosocial comorbidities among caregivers is needed to optimize social adjustment, mental health, and health-related quality of life (HRQoL) for children with DSD.