Recommendations for 46,XX Congenital Adrenal Hyperplasia Across Two Decades: Insights from the North American Differences of Sex Development Clinician Survey.

Several aspects of clinical management of 46,XX congenital adrenal hyperplasia (CAH) remain unsettled and controversial. The North American Disorders/Differences of Sex Development (DSD) Clinician Survey investigated changes, over the last two decades, in clinical recommendations by specialists involved in the management of newborns with DSD. Members of the (Lawson Wilkins) Pediatric Endocrine Society and the Societies for Pediatric Urology participated in a web-based survey at three timepoints: 2003-2004 (T1, n = 432), 2010-2011 (T2, n = 441), and 2020 (T3, n = 272). Participants were presented with two clinical case scenarios-newborns with 46,XX CAH and either mild-to-moderate or severe genital masculinization-and asked for clinical recommendations. Across timepoints, most participants recommended rearing the newborn as a girl, that parents (in consultation with physicians) should make surgical decisions, performing early genitoplasty, and disclosing surgical history at younger ages. Several trends were identified: a small, but significant shift toward recommending a gender other than girl; recommending that adolescent patients serve as the genital surgery decision maker; performing genital surgery at later ages; and disclosing surgical details at younger ages. This is the first study assessing physician recommendations across two decades. Despite variability in the recommendations, most experts followed CAH clinical practice guidelines. The observation that some of the emerging trends do not align with expert opinion or empirical evidence should serve as both a cautionary note and a call for prospective studies examining patient outcomes associated with these changes.

Recommendations for 46,XY Disorders/Differences of Sex Development Across Two Decades: Insights from North American Pediatric Endocrinologists and Urologists.

Clinical decision-making for individuals with 46,XY disorders/differences of sex development (DSD) remains unsettled and controversial. The North American DSD Clinician Survey examines the recommendations of a large group of clinical specialists over the last two decades. Active members of the (Lawson Wilkins) Pediatric Endocrine Society and the Societies for Pediatric Urology were invited to respond to a web-based survey at three different timepoints: 2003-2004 (T1), 2010-2011 (T2), and 2019-2020 (T3). Data from 429 participants in T1, 435 in T2, and 264 in T3 were included in this study. The participants were presented with three XY newborn clinical case scenarios-micropenis, partial androgen insensitivity syndrome, and iatrogenic penile ablation-and asked for clinical management recommendations. The main outcomes assessed included the recommended gender of rearing, surgical decision-maker (parent or patient), timing of genital surgery, and age at which to disclose medical details and surgical history to the patient. For all scenarios, the overwhelming majority recommended rearing as male, including a significant increase across timepoints in those recommending a male gender of rearing for the infant with penile ablation. The proportions recommending female gender of rearing declined significantly across timepoints. In general, most recommended parents (in consultation with the physician) serve as surgical decision-makers, but these proportions declined significantly across timepoints. Recommendations on the timing of surgery varied based on the patient's gender and type of surgery. There has been a shift in recommendations away from the "optimal gender policy" regarding gender of rearing and surgical interventions for patients with XY DSD.

Progressive vascular tumor in infant: A case report and literature review of PIK3CA vascular malformation.

PURPOSE: Vascular anomalies are classified as either vascular tumors or vascular malformations. Vascular malformations can be difficult to diagnose and treat in the pediatric population and can masquerade as malignant processes. Understanding the genetics behind vascular malformations can lead to identification of specific mutations which can be treated with targeted immunotherapy. METHODS: Our case presents a pediatric patient with progressively enlarging vascular malformation despite multiple surgical resections and systemic medical treatments who underwent genetic evaluation and was found to have PIK3CA mutation. RESULTS: After identification of PIK3CA mutation, our patient was successfully treated with the p110ɑ-specific inhibitor, alpelisib, with both shrinkage of malformation on follow-up imaging as well as gains in her developmental milestones. CONCLUSION: Progressive vascular malformations in the pediatric population can be hard to diagnose and treat and are thought to arise from somatic mutations. Our case highlights a patient with progressive malformation despite multiple surgical resections who was successfully treated with targeted immunotherapy after proper identification of genetic mutation.

Ethnic-Racial Identity and Attitude Change: Assessments of Outgroup and Diversity Attitudes among Adolescents in Sweden.

Outgroup and diversity attitudes are important components of intercultural understanding and well-being. Despite the potential of ethnic-racial identity development as a means to foster positive outgroup and diversity attitudes, little is known about its effectiveness in rapidly diversifying contexts such as Sweden. This pre-registered study filled this gap by examining if adolescents taking part in an intervention focused on ethnic-racial identity exploration, the Identity Project, also reported change in outgroup and diversity attitudes, and whether migration background, education type, and ethnic-racial identity development predicted such change. Twenty-three tenth-grade classes in Sweden (N = 509; Mage = 16.28; SDage = 0.80; 66% female; 51% migration background) participated in the intervention and were assessed in four waves over a period of 26 weeks. Whereas ethnic-racial identity exploration and resolution increased for the intervention group, the adolescents reported no change in outgroup and diversity attitudes when compared to a control group. Increases in ethnic-racial identity exploration and resolution co-varied with increases in attitudes, but only at Time 3. The results do not provide support for the link between ethnic-racial identity development and positive outgroup and diversity attitudes, and challenge the notion of attitude change as a cascading effect of the Identity Project intervention in non-US sociocultural contexts. All aspects of the study were pre-registered on the Open Science Framework platform ( https://osf.io/f5896 ).

Different contexts - different stories: Adolescents' experiences of how ethnicity is addressed in schools and sports and on social media in Sweden.

Ethnicity plays a significant role in adolescents' everyday lives, but there is a limited understanding of adolescents' own experiences with how ethnicity is addressed in different contexts. Three contexts of importance during adolescence are investigated in the present study: schools, social media, and sports. A closer contextual examination has the potential to provide insights into how multiple contexts shape experiences with ethnicity. The aim of the study was to understand more about adolescents' experiences of how ethnicity is addressed in schools, on social media, and in sports. Six focus groups with a total of 21 adolescents (Mage = 14.5, SDage = 0.5, female = 76%) discussed their experiences. Data were transcribed verbatim and analyzed using a close-to-data, inductive thematic analysis. The analysis resulted in three main themes and seven subthemes, indicating that ethnicity was addressed differently in the three studied contexts. For the main theme of how ethnicity was addressed in schools, the subthemes were: Addressing ethnicity is important; Ethnicity is addressed through stereotypes and Everyday racism. The main theme of ethnicity on social media consisted of two subthemes: Sharing ethnic and cultural narratives and Hateful remarks. The main theme of ethnicity in sports also consisted of two subthemes: On equal terms and Clear consequences for racist behaviors. To better understand the multiple contexts, the results are discussed guided by the ecological systems theory. The adolescents highlighted that there are many benefits of addressing ethnicity and that it is important to do so in multiple contexts of adolescent life, just not in the same way. When ethnicity was addressed carelessly, such as through stereotypes or via racism masked as jokes, it had the potential to cause harm. When ethnicity was addressed with reflection, it instead had the potential to build understanding, lead to positive experiences, and provide learning opportunities.

The transfer of social threat learning to decision making is robust to extinction.

Through traditional mass media and online social media, we are almost constantly exposed to second-hand experiences of trauma and violence, providing ample opportunities for us to learn about threats through social means. This social threat learning can influence instrumental decision making through a social learning to decision-making transfer process, resembling the so-called Pavlovian to instrumental transfer effect, resulting in consequences that can be maladaptive. Here, we assessed if this influence could be diminished by extinction learning, a procedure where a previously threatening stimulus is learned to be safe, and thereby mitigate possible maladaptive consequences. To this end, we recruited 251 participants to undergo a social threat learning procedure (where they observed someone else receive electric shocks to one out of two images), followed by either a social or direct extinction procedure (in which no shocks were given), before conducting an instrumental decision-making task to measure the strength of the transfer effect. Based on theoretical considerations and previous literature, we proposed two competing hypotheses: (a) extinction learning would diminish the transfer effect or (b) the transfer effect would be robust to extinction. Our results clearly demonstrate that the social to instrumental transfer effect is remarkedly robust to extinction, supporting the second hypotheses. Irrespective of whether extinction was carried out through direct experience or social means, learning about threats through second-hand aversive experiences strongly influence instrumental behavior, suggesting that potentially maladaptive effects of social threat learning are challenging to diminish. (PsycInfo Database Record (c) 2024 APA, all rights reserved).

Elevation of Depressed Skull Fracture in Neonates Using a Breast Pump and a Custom-Molded Flange.

BACKGROUND AND IMPORTANCE: "Ping-pong fractures" (PPF) can occur in neonates and result in cosmetic deformity and local mass effect. Standard treatment involves surgical elevation of the depressed bone when the indentation is considerable or cosmetically apparent. Surgical correction of PPF subjects patients to the risks of surgery and general anesthesia. This article and corresponding video demonstrate a novel means of correcting PPF at bedside without surgery or anesthesia. We used a hospital-grade breast pump connected to a custom-fabricated flange to successfully elevate PPF in two neonates. CLINICAL PRESENTATION: Two moderately preterm infants were noted at birth to have large parietal PPF. To avoid surgical intervention, elevation using a suction device was attempted. A hospital-grade breast pump was used to provide suction. A custom device was fabricated out of a breast pump flange and molded Coloplast Brava® protective seal rings. This device was carefully applied to the skull to exactly match the diameter of the PPF and contour of the bone. Brief (15-30 seconds) periods of suction were applied several times until the PPF was successfully elevated as documented on subsequent computed tomography scans. Both infants achieved excellent cosmetic results with no adverse effects over 24- and 9-month follow-ups, respectively. DISCUSSION: This technique eliminates the risks of open surgical correction and corrected the PPF without general anesthesia or adverse effects to the infant. While there may be limitations due to patient age and/or location of the PPF, the use of widely available and inexpensive custom-fitted materials with a hospital grade breast pump achieves maximal efficacy without requiring higher negative pressure suction application. CONCLUSION: Elevation of PPF can be safely achieved in some neonates using readily available equipment: a hospital-grade breast pump, flange, and moldable adherent material. This technique is reasonable to attempt in lieu of surgical elevation.

Preferences in Clinical Care of Individuals With Differences of Sex Development.

OBJECTIVES: To identify the most important attributes related to the process of achieving, and outcomes associated with, successful care for differences of sex development (DSD). METHODS: We developed a best-worst scaling survey administered to 520 DSD stakeholders, including individuals or family members of those with DSD, health care specialists, and patient support and advocacy representatives. Fourteen process-related attributes and 16 outcome-related attributes were identified through qualitative research. We estimated relative importance scores and coefficients from regression analysis to understand the relative importance of attributes and conducted latent class analysis to explore heterogeneity in preferences. RESULTS: The 3 most important process attributes were (1) good communication between care team and patient/family, (2) care team educated patient/family about condition, and (3) care team incorporates the values of patient/family. The 3 most important outcome attributes were (1) patient satisfaction, (2) patient mental health, and (3) treatment maintains physical health. Latent class analyses showed that respondents had heterogeneous preferences. For process-related attributes, we identified 3 respondent groups: "Patient autonomy and support" (46% of respondents), "Education and care transitions" (18%), and "Shared decision-making" (36%). For outcome-related attributes, we identified 2 respondent groups: "Preserving function and appearance" (59% of respondents) and "Patient health and satisfaction" (41%). CONCLUSIONS: Outcomes such as patient satisfaction and health were the most important outcome attributes, and good communication and education from the care team were the most important process attributes. Respondents expressed heterogeneous preferences for selected DSD care attributes that providers should consider to improve satisfaction with and quality of DSD care.

Multi-stakeholder opinion statement on the care of individuals born with differences of sex development: common ground and opportunities for improvement.

BACKGROUND: In the last 15 years, the care provided for individuals born with differences of sex development (DSD) has evolved, with a strong emphasis on interdisciplinary approaches. However, these developments have not convinced some stakeholders to embrace the current model of care. This care model has also paid insufficient attention to socio-cultural differences and global inequalities. SUMMARY: This article is an opinion statement, resulting from in-depth discussions and reflection among clinicians, patients, and family support organizations based in the US and Europe, where we seek areas of common ground and try to identify opportunities to further develop resources. The product of these conversations is summarized in 10 panels. The corresponding sections provide additional discussion on some of the panel items. KEY MESSAGES: Participants identified areas of agreement and gained a deeper understanding of the reasons behind disagreements on certain matters and identified the necessary steps to foster future consensus. We offer preliminary recommendations for guiding clinical management and resource allocation. By promoting a broader consensus, we aim to enhance the quality of care and well-being for individuals of all ages who have a DSD.

Clinical practice guidelines for the care of girls and women with Turner syndrome.

Turner syndrome (TS) affects 50 per 100 000 females. TS affects multiple organs through all stages of life, necessitating multidisciplinary care. This guideline extends previous ones and includes important new advances, within diagnostics and genetics, estrogen treatment, fertility, co-morbidities, and neurocognition and neuropsychology. Exploratory meetings were held in 2021 in Europe and United States culminating with a consensus meeting in Aarhus, Denmark in June 2023. Prior to this, eight groups addressed important areas in TS care: (1) diagnosis and genetics, (2) growth, (3) puberty and estrogen treatment, (4) cardiovascular health, (5) transition, (6) fertility assessment, monitoring, and counselling, (7) health surveillance for comorbidities throughout the lifespan, and (8) neurocognition and its implications for mental health and well-being. Each group produced proposals for the present guidelines, which were meticulously discussed by the entire group. Four pertinent questions were submitted for formal GRADE (Grading of Recommendations, Assessment, Development and Evaluation) evaluation with systematic review of the literature. The guidelines project was initiated by the European Society for Endocrinology and the Pediatric Endocrine Society, in collaboration with members from the European Society for Pediatric Endocrinology, the European Society of Human Reproduction and Embryology, the European Reference Network on Rare Endocrine Conditions, the Society for Endocrinology, and the European Society of Cardiology, Japanese Society for Pediatric Endocrinology, Australia and New Zealand Society for Pediatric Endocrinology and Diabetes, Latin American Society for Pediatric Endocrinology, Arab Society for Pediatric Endocrinology and Diabetes, and the Asia Pacific Pediatric Endocrine Society. Advocacy groups appointed representatives for pre-meeting discussions and the consensus meeting.