Gonadal function and pathology in 17beta-HSD 3 and 5alpha-reductase deficiency.

Objective: 17β-Hydroxysteroid dehydrogenase 3 deficiency (17β-HSDD) and 5α-reductase type 2 deficiency (5α-RD) are rare 46,XY differences of sex development (DSD). This study aims to enlarge the limited knowledge on long-term gonadal function and gonadal pathology in these conditions.

Design: Retrospective multicentre cohort study.

Prevalence and management of hypertension in Turner syndrome: data from the International Turner Syndrome (I-TS) registry.

Introduction: Cardiovascular disease is the most common cause of death in Turner syndrome (TS) for which arterial hypertension has a direct influence and is a key modifiable risk factor.

Objective: To investigate the prevalence and patterns of hypertension diagnosis and management in adult patients with TS who are registered in a large international multicentre database (TS-HTN study).

Methods: Retrospective multicentre observational study of patients aged ≥18 years included in the I-TS (International-TS) registry (2020-2022), using registry and participating centre-collected data.

Temporal Trends in Acute Adrenal Insufficiency Events in Children With Congenital Adrenal Hyperplasia During 2019-2022.

Background: It is unclear whether targeted monitoring of acute adrenal insufficiency (AI) related adverse events (AE) such as sick day episodes (SDEs) and hospitalization rate in congenital adrenal hyperplasia (CAH) is associated with a change in the occurrence of these events.

Aim: Study temporal trends of AI related AE in the I-CAH Registry.

Methods: In 2022, data on the occurrence of AI-related AE in children aged <18 years with 21-hydroxylase deficiency CAH were compared to data collected in 2019.

Gynecomastia and Its Management In Boys With Partial Androgen Insensitivity Syndrome.

Introduction: Partial androgen insensitivity syndrome (PAIS) is a rare condition that is reported to be commonly associated with gynecomastia in males.

Objectives: To assess the management of gynecomastia in male PAIS.

Materials And Methods: Retrospective review of males with PAIS over the age of 10 years in the I-DSD registry.

Development and evaluation of a scale to measure nurses' unsafe driving behaviour while commuting.

Driving is the most prevalent form of commuting for most workers but is also perhaps the most hazardous mode of travel with unsafe driving contributing significantly to road traffic accidents. Despite nurses having been reported as being at higher risk of commuter-related accidents over the last three decades, little is known about unsafe driving behaviours among nurses while commuting, which is unique from other driving routines. Additionally, the lack of appropriate tools to measure such behaviours is apparent.

Emergency Department Utilization for Pediatric Gastrostomy Tubes Across the United States.

Introduction: Emergency Department (ED) visits for gastrostomy tube complications in children represent a substantial health-care burden, and many ED visits are potentially preventable. The number and nature of ED visits to community hospitals for pediatric gastrostomy tube complications is unknown.

Methods: Using the 2019 Nationwide Emergency Department Sample, we performed a retrospective cross-sectional analysis of pediatric patients (<18 y) with a primary diagnosis of gastrostomy tube complication.

Confirmatory validation analysis of the PROFFIT questionnaire to assess financial toxicity in cancer patients.

Background: The Patient Reported Outcome for Fighting FInancial Toxicity (PROFFIT) questionnaire was developed to measure financial toxicity (FT) and identify its determinants. The aim of the present study was to confirm its validity in a prospective cohort of patients receiving anticancer treatment.

Patients And Methods: From March 2021 to July 2022, 221 patients were enrolled at 10 Italian centres.

In Vitro Glycosylation of the Membrane Protein γ-Sarcoglycan in Nanodiscs.

Membrane glycoproteins are proteins that reside in the membranes of cells and are post-translationally modified to have sugars attached to their amino acid side chains. Studies of this subset of proteins in their native states are becoming more important since they have been linked to numerous human diseases. However, these proteins are difficult to study due to their hydrophobic nature and their propensity to aggregate.

Electronic reporting of rare endocrine conditions within a clinical network: results from the EuRRECa project.

Objective: The European Registries for Rare Endocrine Conditions (EuRRECa, eurreb.eu) includes an e-reporting registry (e-REC) used to perform surveillance of conditions within the European Reference Network (ERN) for rare endocrine conditions (Endo-ERN). The aim of this study was to report the experience of e-REC over the 3.

Predictors of surgical complications in boys with hypospadias: data from an internationa registry.

Background: Complications are frequently reported after hypospadias repair and there is a need to understand the factors that influence their occurrence.

Methods: Data from boys with hypospadias born between 2000 and 2020 were obtained from the International Disorders of Sex Development (I-DSD) Registry. Logistic regressions, fisher's exact tests and spearman's correlation tests were performed on the data to assess associations between clinical factors and complication rates.

Disparities in Ultrasound Use for Diagnosing Pediatric Appendicitis Across United States Emergency Departments.

Introduction: An ultrasound (US)-first approach for evaluating appendicitis is recommended by the American College of Radiology. We sought to assess the access to and utilization of an US-first approach for children with acute appendicitis in United States Emergency Departments.

Methods: Utilizing the 2019 Nationwide Emergency Department Sample, we performed a retrospective cohort study of patients <18 y with a primary diagnosis of acute appendicitis based on International Classification of Disease 10th Edition Diagnosis codes.

Hormonal control during infancy and testicular adrenal rest tumor development in males with congenital adrenal hyperplasia: a retrospective multicenter cohort study.

Importance: Testicular adrenal rest tumors (TARTs), often found in male patients with congenital adrenal hyperplasia (CAH), are benign lesions causing testicular damage and infertility. We hypothesize that chronically elevated adrenocorticotropic hormone exposure during early life may promote TART development.

Objective: This study aimed to examine the association between commencing adequate glucocorticoid treatment early after birth and TART development.

Development of a Minimum Dataset for the Monitoring of Recombinant Human Growth Hormone Therapy in Children with Growth Hormone Deficiency: A GloBE-Reg Initiative.

Introduction: Although there are some recommendations in the literature on the assessments that should be performed in children on recombinant human growth hormone (rhGH) therapy, the level of consensus on these measurements is not clear. The objective of the current study was to identify the minimum dataset (MDS) that could be measured in a routine clinical setting across the world, aiming to minimise burden on clinicians and improve quality of data collection.

Methods: This study was undertaken by the growth hormone (GH) scientific study group in GloBE-Reg, a new project that has developed a common registry platform that can support long-term safety and effectiveness studies of drugs.

Secondary Undertriage of Pediatric Trauma Patients Across the United States Emergency Departments.

Introduction: The American College of Surgeons has developed evidence-based guidelines to triage the care of severely injured children to Level 1 and 2 trauma centers. Undertriage is the treatment of patients at facilities not equipped to treat the patient's injuries appropriately. We sought to evaluate the association between patient and hospital characteristics and secondary undertriage in children after major trauma.

A scoping review to inform an auditing framework evaluating healthcare environments for inclusion of people with intellectual disability and/or autism.

People with intellectual disability and/or autism are likely to be in hospital more often, for longer, and have poorer health outcomes. Few audit tools exist to identify their barriers in mainstream healthcare environments. This study aimed to identify evidence of audit characteristics of healthcare contexts specifically for people with intellectual disability and/or autism, for conceptual development of an auditing framework.

Pubertal and Gonadal Outcomes in 46,XY Individuals with Partial Androgen Insensitivity Syndrome Raised as Girls.

Introduction: Although it was common in the 1970s-1990s to assign female gender of rearing to 46,XY infants with limited virilization of varying etiologies, including those with partial androgen insensitivity syndrome (PAIS), long-term data on outcomes for these individuals are sparse. Therefore, our goal was to use the power of an international registry to evaluate clinical features, surgical management, and pubertal data in patients with a molecularly confirmed diagnosis of PAIS who were born before 2008 and were raised as girls.

Methods: The current study interrogated the International Disorders of Sex Development Registry for available data on management and pubertal outcomes in individuals with genetically confirmed PAIS who were raised as girls.

Long-term cardiometabolic morbidity in young adults with classic 21-hydroxylase deficiency congenital adrenal hyperplasia.

Purpose: To study the current practice for assessing comorbidity in adults with 21-hydroxylase CAH and to assess the prevalence of comorbidity in these adults.

Methods: A structured questionnaire was sent to 46 expert centres managing adults with CAH. Information collected included current therapy and surveillance practice with a particular focus on osteoporosis/osteopaenia, hyperlipidaemia, type 2 diabetes/hyperinsulinaemia, hypertension, CV disease, obesity.

Outcome of COVID-19 infections in patients with adrenal insufficiency and excess.

Background: Information on clinical outcomes of coronavirus disease 19 (COVID-19) infection in patients with adrenal disorders is scarce.

Methods: A collaboration between the European Society of Endocrinology (ESE) Rare Disease Committee and European Reference Network on Rare Endocrine Conditions via the European Registries for Rare Endocrine Conditions allowed the collection of data on 64 cases (57 adrenal insufficiency (AI), 7 Cushing's syndrome) that had been reported by 12 centres in 8 European countries between January 2020 and December 2021.

Results: Of all 64 patients, 23 were males and 41 females (13 of those children) with a median age of 37 and 51 years.

Strengthening effectiveness evaluations to improve programs for women, children and adolescents.

A full understanding of the pathways from efficacious interventions to population impact requires rigorous effectiveness evaluations conducted under realistic scale-up conditions at country level. In this paper, we introduce a deductive framework that underpins effectiveness evaluations. This framework forms the theoretical and conceptual basis for the 'Real Accountability: Data Analysis for Results' (RADAR) project, intended to address gaps in guidance and tools for the evaluation of projects being implemented at scale to reduce mortality among women and children.

Analysis of therapy monitoring in the International Congenital Adrenal Hyperplasia Registry.

Objective: Congenital adrenal hyperplasia (CAH) requires exogenous steroid replacement. Treatment is commonly monitored by measuring 17-OH progesterone (17OHP) and androstenedione (D4).

Design: Retrospective cohort study using real-world data to evaluate 17OHP and D4 in relation to hydrocortisone (HC) dose in CAH patients treated in 14 countries.

Cultural adaptation of the Italian version of the Patient-Reported Outcomes Common Terminology Criteria for Adverse Event (PRO-CTCAE®).

Introduction: US National Cancer Institute's (NCI) Patient-Reported Outcomes version of the Common Terminology Criteria for Adverse Events (PRO-CTCAE) is a library of 78 symptom terms and 124 items enabling patient reporting of symptomatic adverse events in cancer trials. This multicenter study used mixed methods to develop an Italian language version of this widely accepted measure, and describe the content validity and reliability in a diverse sample of Italian-speaking patients.

Methods: All PRO-CTCAE items were translated in accordance with international guidelines.