ObjectiveCongenital adrenal hyperplasia (CAH) is a genetic condition caused by enzymatic defects of adrenal steroidogenesis. The physical manifestations of CAH are well recognised, but the effects on health-related quality of life (HRQoL) are unclear. We sought to explore the factors impacting the HRQoL of individuals with CAH. DesignPhenomenological qualitative study of lived experience. MethodsIn-depth, timeline-assisted, semi-structured interviews were undertaken virtually with participants recruited via the Living with CAH patient support group. Participants, purposively selected until data saturation, were adults (≥18 years) with CAH and parents or partners of adults with CAH. Interviews were audio-recorded, transcribed verbatim, and analysed using framework analysis. ResultsTwenty-three participants were interviewed (20 classic, 1 non-classic, and 2 mothers). Most participants (n = 19) were female. CAH has a profound physical, psychological, and psychosocial impact on individuals. The psychological well-being of women was compromised by trauma from childhood medical examinations and a lack of agency in treatment decisions. Poor self-esteem, shame, and negative body image impaired female social functioning. Female sexual dysfunction from genital malformation or surgery and psychosexual issues negatively impacted intimate relationships. Fertility and reproductive choices were a concern to both sexes. Complex family dynamics with dependent relationships were evident. ConclusionThis study identified a breadth of factors impacting HRQoL in CAH – domains overlooked by an existing measure that predominantly focuses on physical symptoms. Further work is needed to develop a sensitive, comprehensive disease-specific HRQoL measure that reflects the lived experience of individuals with CAH to facilitate delivery of patient-centred care and improved patient outcomes.

Background Type 2 Diabetes Mellitus (T2DM) requires a multifaceted management approach involving lifestyle modifications, education, and pharmacological treatments. Medication adherence is critical for achieving glycaemic control; however, up to 45 % of patients fail to meet HbA1c targets. The Morisky Medication Adherence Scale (MMAS) is a validated tool widely used in clinical practice to assess self-reported medication adherence, offering valuable insights into patient behaviours affecting treatment outcomes. Aim This systematic review evaluates medication adherence in adults with T2DM using the MMAS and to identify modifiable factors influencing non-adherence. The COM-B model was used to structure the analysis by mapping barriers and enablers to the Capability, Opportunity, and Motivation components that underpin medication-taking Behaviour. Method A systematic review was conducted following the PRISMA framework. MEDLINE, EMBASE, EMCARE, and Ovid Nursing databases were searched for cross-sectional studies published between January 2013 and December 2024 that utilised the MMAS scale to assess adherence in adults with T2DM receiving oral or injectable anti-glycaemic therapies. A narrative synthesis was conducted using the COM-B model to identify key barriers and enablers influencing adherence. Results Of 9990 records screened, 30 studies from 17 countries, involving 8405 participants, met the inclusion criteria. Overall, 40.9 % of participants demonstrated high adherence, while 42.6 % had low adherence. Key barriers included poor diabetes knowledge, depression, polypharmacy, side effects, inadequate patient-provider communication, and lack of continuity in care. Enablers encompassed patient education, family support, effective patient-provider communication, and structured diabetes education programmes. Conclusions The MMAS remains a reliable tool for assessing self-reported medication adherence in T2DM. However, adherence levels remain suboptimal. Addressing modifiable factors, such as depression, enhancing diabetes education, and improving healthcare communication, may improve adherence, glycaemic control, and overall T2DM management outcomes. Registration Registered with PROSPERO (CRD42022359969)

Objective:Adrenal crisis is a life-threatening complication that requires urgent administration of parenteral hydrocortisone. Current patient education interventions remain ineffective, contributing to preventable hospitalisations and deaths. This study explored the lived experiences of individuals with adrenal insufficiency, focussing on the factors influencing self-management during adrenal crises. Methods:This qualitative study employed online semi-structured interviews with adults with adrenal insufficiency who had experienced at least one adrenal crisis in the past 3 years. Participants were recruited via patient advocacy groups in the United Kingdom. Data were analysed using an inductive thematic approach, allowing themes to emerge directly from the data without imposing predetermined categories. Results:Twelve themes, grouped into four overarching domains, captured individual experiences of managing adrenal crises: i) knowledge and experience; ii) tools and training; iii) psychological and emotional impact; and iv) support and dependence on others. Participants reported challenges including delayed diagnosis, difficulties recognising adrenal crisis symptoms and the complexity of the hydrocortisone injection process. However, prior experiences of adrenal crises, patient education and advocacy resources fostered greater confidence in self-management. Participants highlighted the need for simplified injection devices, clearer stress dosing guidelines, improved training for healthcare professionals and increased public awareness. Conclusion:Findings from this qualitative study emphasise that effective adrenal crisis management requires patient-centred, evidence-based interventions focussing on education, healthcare professional training and public awareness. Simplified hydrocortisone delivery devices and systemic reforms are crucial to supporting self-management and minimising preventable hospitalisations and fatalities caused by adrenal crises. Plain language summary:People with adrenal insufficiency face life-threatening emergencies called adrenal crises, which need urgent treatment with hydrocortisone injections. In this study, 12 people shared their struggles, including complex injection procedures, severe symptoms which made self-injection challenging and limited support to manage these crises effectively. Simpler injection devices, better information and improved training for healthcare staff could help people self-manage their condition better, prevent avoidable hospital admissions and save lives.

OBJECTIVE:Individuals with adrenal insufficiency (AI) are at risk of acute adrenal crisis and death, particularly during illness or trauma, and may require rapid treatment with parenteral glucocorticoid such as hydrocortisone to manage a crisis. Current guidelines recommend timely self-injection in an evolving crisis. Little is known about the patient experience with emergency injections. We surveyed people with AI regarding success with emergency injections. METHODS:In 2022 a survey was conducted through the National Adrenal Diseases Foundation website of individuals with AI or their caregivers about experience with managing an adrenal crisis. They reported on adrenal crisis events that required an emergency cortisol injection and the success or failure of the injection, context of the event and reasons for failure. RESULTS:Nearly half (41%) of adrenal insufficient patients were unable to self-administer an emergency glucocorticoid injection, citing effects of their crisis-associated illness and confusion as major barriers. Failed injections led to bad outcomes (sicker, need for hospitalization, or death) in 36% of cases. CONCLUSIONS:Effective, timely, management of an impending adrenal crisis can prevent progression to hospitalization, multisystem failure requiring intensive care unit care, and death. Reliance solely on patient self-injection may result in worse outcomes. Treating physicians should include patient education about injections and specific practical instruction in the technique, as well as the potential need for assistance in a crisis. US Food and Drug Administration approval of a glucocorticoid autoinjector, greater engagement with Emergency Medical Services clinicians, hospital emergency staff, and other health care professionals, is key for future success in managing adrenal crises.

OBJECTIVE:Adrenal crisis is a potentially fatal complication of primary adrenal insufficiency (PAI) and the leading cause of death in this population. Knowledge and its application are crucial to prevention. This study aimed to assess knowledge of glucocorticoid stress dosing and adrenal crisis prevention among individuals with PAI in South Africa (SA) and the United Kingdom (UK). DESIGN:Cross-sectional study comprising a researcher-administered telephone survey in SA and an online questionnaire in the UK. PATIENTS:A total of 286 individuals with PAI on glucocorticoid replacement therapy: 47 from SA and 239 from the UK. MEASUREMENTS:The survey included questions on knowledge of glucocorticoid adjustment during intercurrent illness or stress, vulnerability (SA cohort only), and factors precipitating adrenal crises (UK cohort only). RESULTS:Knowledge levels were suboptimal across both cohorts, with 72% answering correctly for infection, 54% vomiting, 52% fever, and 40% emotional stress. The UK cohort demonstrated significantly better knowledge (mean 49% correct, SD = 24.7) than the SA cohort (mean 34%, SD = 30.7; p < 0.001). Nearly a third of participants reported at least one adrenal crisis in the past year. Prior adrenal crisis experience correlated with higher knowledge scores (p = 0.049). Vulnerability scores correlated positively with adrenal crisis frequency in the SA cohort (r = 0.382; p = 0.008). CONCLUSIONS:This is the first study to compare knowledge of adrenal crisis prevention in individuals with PAI across two countries with distinct healthcare services, highlighting significant knowledge gaps in both cohorts, particularly in the SA cohort. Targeted education and support group engagement are needed to address knowledge gaps and reduce adrenal crisis incidence.

BackgroundAdrenal crisis is the leading cause of death in patients with adrenal insufficiency, and prevention requires immediate parenteral hydrocortisone administration. However, most patients do not receive their home emergency hydrocortisone injection. Our study aimed to investigate barriers and enablers to using emergency hydrocortisone injections in managing adrenal crises.MethodsThis mixed-methods observational study utilized an online survey distributed through two U.S.-based patient advocacy groups. A total of 688 respondents completed the survey, including 485 (70%) parents/caregivers of individuals with adrenal insufficiency and 203 (30%) adults with adrenal insufficiency. Qualitative free-text responses were analyzed using thematic content analysis, with subsequent quantification of identified barriers and enablers to administering parenteral hydrocortisone during adrenal crises.ResultsOver 60% of patients with adrenal insufficiency had required parenteral hydrocortisone for an adrenal crisis, yet fewer than 20% managed to self-inject. Thirteen barriers and nine enablers were identified across three thematic domains: device factors, external factors, and emotional factors. Key barriers included the complexity of the multi-step hydrocortisone injection process (81%), injection-related anxiety and lack of confidence (18%), challenges accessing the correct hydrocortisone formulation or equipment (38%), and inadequate support for managing adrenal crises (29%). Key enablers included the effectiveness of hydrocortisone (14%), the convenience of the combined powder-and-diluent hydrocortisone vial (36%), and patient education (4%). Notably, 97% of participants expressed a preference for a hydrocortisone autoinjector to enhance self-injection capabilities.ConclusionEffective adrenal crisis management requires comprehensive, evidence-based interventions across patient, healthcare, and societal levels. This should include the development of user-friendly hydrocortisone delivery devices, individualized patient education, healthcare system reforms, and public awareness.

CONTEXT:Klinefelter syndrome (KS), most commonly arises from a 47,XXY karyotype. While KS affects around 1 in 450 to 600 male births, an estimated 50% to 75% of cases go undiagnosed. Individuals with KS are at increased risk of metabolic, cardiovascular, and reproductive comorbidities, increasing mortality risk, psychological burden, and significantly diminished health-related quality of life (HR-QoL) compared to healthy controls. We provide an updated review of the recent literature on the clinical management for people with KS, associated comorbidities, and the implications on HR-QoL. EVIDENCE ACQUISITION:A comprehensive literature search was conducted of key databases MEDLINE, CINAHL, Cochrane, Psychinfo, and EMBASE, followed by a gray search of relevant key papers in KS with medical guideline organizations being searched online and, where available, their publications and proposed guidelines being assessed. All databases were searched from their inception until December 2024, and English-language restrictions applied. EVIDENCE SYNTHESIS:Current evidence highlights the need for early detection, the importance of appropriate medication management, and multidisciplinary care to address infertility, cancer risks, neurocognitive deficits, and adverse mental health. Lifespan-specific interventions remain underexplored, necessitating further research to optimize outcomes and refine clinical guidelines. CONCLUSION:KS management is guided by only one endorsed guideline. International and interprofessional collaboration is needed to develop consensus documents. Existing guidelines pay minimal attention to the numerous HR-QoL challenges, overlooking the effect and diagnosis of psychological comorbidities. Enhancing HR-QoL and optimizing physical and mental well-being should be prioritized to improve HR-QoL outcomes in people with KS.

Successful treatment outcomes of adults with hypothalamic-pituitary disorders necessitate the adoption of intricate self-management behaviors, yet current scales for evaluating treatment adherence and satisfaction are inadequate for this patient group. This research introduces a novel treatment adherence, satisfaction and knowledge questionnaire (TASK-Q) developed specifically to identify patients’ unmet needs in better assessing and managing these disorders. The study was conducted in three phases: (1) generating items and testing content validity, (2) refining these items through a pilot study, and (3) a main study evaluating the psychometric properties of the TASK-Q scale among 262 adults in a Pituitary Nurse-led Clinic, with 152 (58

BACKGROUND:Congenital adrenal hyperplasia (CAH) encompasses a rare group of autosomal recessive disorders, characterised by enzymatic defects in steroidogenesis. Heterogeneity in management practices has been observed internationally. The International Congenital Adrenal Hyperplasia registry (I-CAH, https://sdmregistries.org/) was established to enable insights into CAH management and outcomes, yet its global adoption by endocrine centres remains unclear. DESIGN:We sought (1) to assess current practices amongst clinicians managing patients with CAH in the United Kingdom and Ireland, with a focus on choice of glucocorticoid, monitoring practices and screening for associated co-morbidities, and (2) to assess use of the I-CAH registry. MEASUREMENTS:We designed and distributed an anonymised online survey disseminated to members of the Society for Endocrinology and Irish Endocrine Society to capture management practices in the care of patients with CAH. RESULTS:Marked variability was found in CAH management, with differences between general endocrinology and subspecialist settings, particularly in glucocorticoid use, biochemical monitoring and comorbidity screening, with significant disparities in reproductive health monitoring, notably in testicular adrenal rest tumours (TARTs) screening (p = .002), sperm banking (p = .0004) and partner testing for CAH (p < .0001). Adoption of the I-CAH registry was universally low. CONCLUSIONS:Differences in current management of CAH continue to exist. It appears crucial to objectify if different approaches result in different long-term outcomes. New studies such as CaHASE2, incorporating standardised minimum datasets including replacement therapies and monitoring strategies as well as longitudinal data collection, are now needed to define best-practice and standardise care.

Searchable abstracts of presentations at key conferences in endocrinology ISSN 1470-3947 (print) | ISSN 1479-6848 (online)

Searchable abstracts of presentations at key conferences in endocrinology ISSN 1470-3947 (print) | ISSN 1479-6848 (online)

Searchable abstracts of presentations at key conferences in endocrinology ISSN 1470-3947 (print) | ISSN 1479-6848 (online)

Introduction:Most patients with Adrenal insufficiency (AI) require lifelong glucocorticoid replacement. They need to increase glucocorticoids during physical illness or major stressful situations and require parenteral hydrocortisone in the event of an adrenal crisis. Patients with AI have impaired quality of life and high mortality; approximately 1 in 6-12 patients are hospitalised at least once/year from a potentially preventable adrenal crisis. Adoption of self-management behaviours are crucial; these include adherence to medication, following "sick day rules" and associated behaviours that aid prevention and treatment of adrenal crisis such as symptom monitoring, having extra tablets, carrying a medical-alert ID and injection kit, and self-injecting when necessary. Current patient education is ineffective at supporting self-management behaviour change or reducing adrenal crisis-related hospitalisations. This research study aims to gain an in-depth understanding of the barriers and enablers to self-management for patients with AI and to develop an evidence-based digital self-management behaviour change intervention.Methods:The study is conducted in accordance with the MRC Framework for developing complex interventions. Underpinned by the Behaviour Change Wheel (BCW), the Theoretical Domains Framework (TDF), and the Person-Based Approach, this research will be conducted in two phases: Phase 1 will involve a sequential qualitative/quantitative mixed-methods study involving focus group interviews followed by a cross-sectional survey with patients with AI recruited from patient advocacy groups and endocrine clinics in the UK. Phase 2 will develop the Support AI, a website-based digital behaviour change intervention (DBCI) informed by Phase 1 findings to support self-management for patients with AI. The most appropriate behaviour change techniques (BCTs) will be selected utilising a nominal group technique with an Expert Panel of 10-15 key stakeholders. The design of the Support AI website will be guided by the Person-Based Approach using an Agile iterative "think-aloud" technique with 12-15 participants over 3 usability testing iterations.Conclusion:A theory- and evidence-based digital behaviour change intervention will be developed which will be tested in a feasibility randomised trial following completion of this study. The projected benefit includes cost-effective health care service (reduced hospitalisations and demand for specialist services) and improved health outcomes and quality of life for patients with AI.

Searchable abstracts of presentations at key conferences in endocrinology ISSN 1470-3947 (print) | ISSN 1479-6848 (online)

Objective: Klinefelter syndrome (KS) is the second-most prevalent chromosomal disorder in men, though late diagnosis is very common and 50-75% of men remain undiagnosed. Evidence suggests that men with KS have impaired quality of life (QoL) but research on how the diagnosis of KS is associated with different QoL domains and what factors influence patients' QoL is limited. This study aimed to provide a systematic review of the published evidence on factors that influence QoL in men with KS. Design: Systematic review and meta-analysis with narrative synthesis. Methods: Medline, Cochrane, Embase, Psychinfo, CINAHL, BASE and relevant publication reference lists were searched in January 2021. Eligible studies included randomised control trials, cohort studies, cross-sectional studies and epidemiology studies on KS and its effect on QoL and all domains of World Health Organisation (WHO) Quality of Life 100 (WHOQOL-100). Clinical studies with no date restriction published in English were included. Results: Thematic analysis was completed on 13 studies, with a meta-analysis of intelligence quotient completed on 7 studies. Twelve out of the 13 studies suggested that KS negatively affected the QoL outcomes and KS was associated with impairments in physical, psychological, level independence and social relationship domains of WHOQOL-100. Meta-analysis suggested that men with KS have significantly lower full-scale Intelligence Quotient vs controls (P < 0.00001). Conclusions: This is the first evidence synthesis of QoL in men with KS. Current evidence suggests that combined physical and psychological impairments affect men with KS who also experience impairments in relationships and independence in society. Further research is needed to identify factors that influence the QoL in men with KS.

Klinefelter syndrome (KS) is the most common aneuploidy in men and has long-term sequelae on health and wellbeing. KS is a chronic, lifelong condition and adolescents/young adults (AYAs) with KS face challenges in transitioning from pediatric to adult-oriented services. Discontinuity of care contributes to poor outcomes for health and wellbeing and transition programs for KS are lacking. We aimed to develop and test a mobile health tool (KS Transition Passport) to educate patients about KS, encourage self-management and support successful transition to adult-oriented care. First, we conducted a retrospective chart review and patient survey to examine KS transition at a university hospital. Second, we conducted a systematic scoping review of the literature on AYAs with KS. Last, we developed a mobile health transition passport and evaluated it with patient support groups. Participants evaluated the tool using the System Usability Scale and Patient Education Materials Assessment Tool (PEMAT). Chart review identified 21 AYAs diagnosed between 3.9-16.8 years-old (median 10.2 years). The survey revealed only 4/10 (40%) were on testosterone therapy and fewer (3/10, 30%) had regular medical care. The scoping review identified 21 relevant articles highlighting key aspects of care for AYAs with KS. An interprofessional team developed the mobile-health KS transition passport using an iterative process. Support group members (n=35) rated passport usability as ‘ok’ to ‘good’ (70 ± 20, median 73.5/100). Of PEMAT dimensions, 5/6 were deemed ‘high quality’ (86-90/100) and participants knew what to do with the information (actionability = 83/100). In conclusion, many patients with KS appear to have gaps in transition to adult-oriented care. Iterative development of a KS transition passport produced a mobile health tool that was usable, understandable and had high ratings for actionability.

Searchable abstracts of presentations at key conferences in endocrinology ISSN 1470-3947 (print) | ISSN 1479-6848 (online)