Seryl-tRNA synthetase 1 (SARS1) deficiency is a rare autosomal recessive disorder presenting with neurodevelopmental delay, deafness, cardiomyopathy, and fatal metabolic decompensation triggered by febrile episodes. While amino acid chronic supplementation is established, no guidelines exist for acute management. We report the case of a 9-year-old male of Turkish origin with genetically confirmed SARS1 deficiency, admitted with fever, vomiting, hypotonia, and seizures. The clinical course rapidly progressed to metabolic decompensation and severe acute cardiac failure, characterised by a left ventricular ejection fraction of 20%, necessitating mechanical ventilation and vasopressor support. Notably, the patient's family history included the death of three siblings during similar febrile episodes. During hospitalisation, the patient's specific L-serine supplementation dosage was progressively tripled concurrently with standard supportive care. Unlike the fatal outcomes observed in his siblings, untreated by L-serine, the patient survived and recovered following this high-dose regimen. Cardiac biomarkers normalised within 20 days, and follow-up echocardiography at 1 month demonstrated complete resolution of myocardial oedema. However, a year later, the patient presented with another febrile crisis at 10 years old, and despite an emergency protocol, the patient developed severe biventricular dysfunction progressing to fatal cardiogenic shock. This constitutes the first documented survival of a SARS1-related metabolic crisis managed with high-dose L-serine. The findings strongly suggest that early, aggressive escalation of L-serine dosage can be a viable therapeutic strategy for acute decompensation in SARS1 deficiency.

BACKGROUND:Rare mutations of the ESR1 gene, encoding the estrogen receptor alpha (ERα), have been shown to cause estrogen resistance in humans. Phenotypic features include impaired maturation of epiphyseal cartilage, osteoporosis, and infertility. Clinical phenotype is not well described and the available data reflect inconsistency. To date, there are no effective therapeutic options. METHOD:This retrospective study provides a detailed description of bone and metabolic phenotype and 8-year follow-up data of a female with a novel p.Met543Thr missense variant in the homozygous state, localized in the ligand-binding domain. RESULTS:The patient, first seen at the age of 21.3 years, presented with a tall stature (+2.2 SD), a delayed bone age (13 years). She had no breast development, normal axillary and pubic pilosity and bilateral axillary acanthosis nigricans. The metabolic phenotype included insulin resistance, decreased insulin sensitivity and increased leptinemia. The patient presented a continuous linear growth (height + 3SD at the age of 28.6 years). She had a severe osteoporosis of the lumbar spine (Z-score -3.9) and osteopenia of the femoral neck (Z-score -1.8). Osteoporosis worsened (Z-score -5.6 at the lumbar spine; Z-score -4.4 at the femoral neck) despite successive treatments with ethinyl-estradiol and tamoxifen (selective estrogen modulator). Markers of bone turnover were increased and unresponsive to treatment. Treatment with ethinyl-estradiol improved insulin sensitivity, lowered leptinemia, increased some estrogen-regulated liver proteins and the E2/T ratio. CONCLUSION:This report brings new insights to the estrogen resistance syndrome and improves our understanding of the skeletal and tissue specific roles of ERα in humans.

INTRODUCTION:Over the last decade at the University Hospital of Nancy in Lorraine, France, we have observed an increasing number of people under 35 years old who receive consultation for gender incongruence, from an average of 7 new patients per year in 2002-2013 to an average of 27 per year in 2014-2017. METHODS:We conducted a mixed-methods study, including a retrospective quantitative analysis of medical records of youths who sought care for gender incongruence from 2004 to 2020, and a qualitative analysis of in-depth interviews with 11 patients identified through the medical records. RESULTS:The study included 235 participants (135 assigned female at birth, 100 assigned male at birth). Transgender men were younger than transgender women: mean age 20 (1.6, standard deviation, [SD]) years vs. 22.7 (4.3 SD) years; p = 0.01 at first referral. We observed no difference in age at the initiation of gender-affirming hormonal treatments. More than half of our participants chronologically situated their first questioning about their gender identity in the prepubertal period. Their life experiences revealed a lack of transgender representation in society, discomfort with the treatments offered, difficulties in becoming aware of and disclosing their gender identity, and the importance of peer/community support. CONCLUSION:The present study provides insights into the growing population of transgender and gender nonconforming people receiving care in the University Hospital of Nancy which has coincided with the evolution of the national legal framework. Our results identify several priorities for transgender youth who are receiving gender-affirming care. Further research outside hospital networks appears warranted.

BACKGROUND:Artificial intelligence (AI) has a variety of potential applications in health professions education and assessment; however, measurable educational impacts of AI-based educational strategies on learning outcomes have not been systematically evaluated. METHODS:A systematic literature search was conducted using electronic databases (CINAHL Plus, EMBASE, Proquest, Pubmed, Cochrane Library, and Web of Science) to identify studies published until October 1st 2024, analyzing the impact of AI-based tools/interventions in health profession assessment and/or training on educational outcomes. The present analysis follows the PRISMA 2020 statement for systematic reviews and the structured approach to reporting in health care education for evidence synthesis. RESULTS:The final analysis included twelve studies. All were single centers with sample sizes ranging from 4 to 180 participants. Three studies were randomized controlled trials, and seven had a quasi-experimental design. Two studies were observational. The studies had a heterogenous design. Confounding variables were not controlled. None of the studies provided learning objectives or descriptions of the competencies to be achieved. Three studies applied learning theories in the development of AI-powered educational strategies. One study reported the analysis of the authenticity of the learning environment. No study provided information on the impact of feedback activities on learning outcomes. All studies corresponded to Kirkpatrick's second level evaluating technical skills or quantifiable knowledge. No study evaluated more complex tasks, such as the behavior of learners in the workplace. There was insufficient information on training datasets and copyright issues. CONCLUSIONS:The results of the analysis show that the current evidence regarding measurable educational outcomes of AI-powered interventions in health professions education is poor. Further studies with a rigorous methodological approach are needed. The present work also highlights that there is no straightforward guide for evaluating the quality of research in AI-based education and suggests a series of criteria that should be considered. TRIAL REGISTRATION:Methods and inclusion criteria were defined in advance, specified in a protocol and registered in the OSF registries ( https://osf.io/v5cgp/ ). CLINICAL TRIAL NUMBER:not applicable.

Increase in body fat and dyslipidemia have been reported in persons receiving gender-affirming hormone therapy (GAHT). However, little is known whether these changes are associated with a pro-inflammatory state. To study the relationship between changes in body composition, cardiometabolic parameters and systemic inflammatory indices in transgender persons at baseline and one year after starting GAHT. A single center retrospective study including 50 assigned female at birth (AFAB) (median age 21.5 years) and 37 assigned male at birth (AMAB) persons (median age 29 years) with data separated by a 1-year period. Testosterone therapy in AFAB persons led to a significant increase in VAT (P = 0.0006), trunk/limb ratio (P < 0.001), uric acid (P < 0.001), LDL-cholesterol (P < 0.05) and a significant decrease in HDL-cholesterol (P < 0.05). There were no changes in systemic inflammatory indices. Results of the final regression models indicated that increase in uric acid explained 33.2

BACKGROUND:Despite recent evidence of the benefits of gender-affirming medical procedures, data in the literature indicate emerging demands of detransition and regrets while suggesting potential sources of bias in different datasets, including a nonconsensual definition of detransition. AIM:The present systematic review aims to summarize the existing research regarding the prevalence of detransition in transgender persons who requested or started receiving gonadotrophin-releasing hormone analogs (GnRHa) and/or gender-affirming hormonal therapy (GAHT). METHODS:A systematic literature search (CINAHL Plus, Cochrane Library, Google Scholar, MEDLINE, Web of Science, Sage Journals, Science Direct, Scopus) for quantitative studies was conducted up to May 2024. All eligible studies were assessed using the Strengthening the Reporting of Observational Studies in Epidemiology statement. The risk of bias was assessed using the National Institute of Health quality assessment tool. The present analysis follows the PRISMA statement for systematic review articles and the synthesis without meta-analysis recommendations. OUTCOMES:The primary outcome was the point-prevalence proportion of detransition events as a percentage in the population of transgender persons who were considered eligible for treatment or had initiated GnRHa and/or GAHT. RESULTS:Fifteen observational studies involving 3804 children and adolescents and 3270 adult participants were included in the 3212 screened studies. Five studies reported a change in request before starting GnRHa, five studies reported GnRHa discontinuation, and nine studies reported GAHT discontinuation. The point-prevalence proportions of shifts in requests before any treatment ranged from 0.8-7.4%. The point-prevalence proportions of GnRHa discontinuation ranged from 1-7.6%. The point-prevalence proportions of GAHT discontinuation ranged from 1.6-9.8%. All of the included studies were heterogeneous regarding definitions of detransition used and the study design: their numbers were too small to be statistically relevant, their time frame was insufficient, they did not use patient-level data, or they did not consider confounding factors. CLINICAL IMPLICATIONS:Quality measurement tools are needed, as are monitoring standards, and both are important for health outcomes and guarantee the attention of health care providers and policy-makers. STRENGTHS AND LIMITATIONS:The unique features of this analysis are its restrictive inclusion criteria compared with those of previous reviews, such as a strict definition of detransition and a focus on empirical studies only. However, most of the studies were retrospective and unblinded, and most were not sufficiently powered to detect detransition rates. CONCLUSION:Taken together, the results of the present analysis show that detransition in persons undergoing gender-affirming treatment has been insufficiently investigated, highlighting the need for long-term follow-up studies.

Context Liver function abnormalities have been reported in patients with Turner syndrome (TS); however, the pathophysiological mechanisms have not been well elucidated. Low-grade inflammation has been associated with metabolic dysfunction-associated steatotic liver disease.Objective We studied systemic inflammatory indices [aspartate transaminase to lymphocyte ratio index (ALRI), aspartate transaminase to platelet ratio index (APRI), gamma-glutamyl transferase to platelet ratio (GPR), neutrophil-lymphocyte-ratio (NLR), and platelet lymphocyte ratio and examined their associations with the hepatic abnormalities observed in these subjects.Methods We performed a retrospective analysis of the medical records of 79 patients with TS (mean age 32.5 +/- 9.2 SD years) who were treated at the University Hospital of Nancy. Using matched-pair analyses based on age and body mass index (BMI), we compared 66 patients with TS (25.6 +/- 7.3 years; BMI 25.9 +/- 6.3 kg/m2) to 66 healthy control participants (24.7 +/- 6.8 years; BMI 26 +/- 6.7 kg/m2).Results Liver function abnormalities were present in 57% of the patients with TS. The ALRI, APRI, GPR, and NLR were significantly greater in patients with TS who presented with liver dysfunction than in patients with TS who had normal liver function. According to the matched-pair analyses, the ALRI, APRI, and GPR were greater in patients with TS than in healthy control participants. Logistic regression revealed that a diagnosis of TS was significantly associated with ALRI, APRI, and GPR and liver dysfunction.Conclusion Noninvasive inflammatory indices (ALRI, APRI, and GPR) might be a promising indicators of liver dysfunction in patients with TS. Future prospective studies are needed to confirm our findings and to explore the clinical significance and prognostic value of systemic inflammatory indices in Turner syndrome.

Contexte et problématique : L’examen clinique objectif et structuré (ECOS) est un outil pédagogique utilisé à des fins de formation et d’évaluation des performances des étudiants dans un environnement simulé. Pour justifier son utilité et son efficacité, l’ECOS doit être régulièrement révisé. Les données psychométriques permettent de répondre aux questions d’évaluation de la qualité de l’ECOS. Dans l’éducation médicale une note de passage fixe de 50 % est traditionnellement utilisée. Cependant les stations au sein d’un circuit d’ECOS peuvent avoir des niveaux de difficulté variable. Le seuil de réussite est déterminé par le biais d’un ajustement statistique afin de refléter le niveau de difficulté de chacune des stations au sein du circuit. Objectif : Ce travail décrit une démarche de standardisation de l’épreuve sur un exemple concret selon les attendus d’apprentissage sur le modèle adopté en France. Cadre conceptuel et méthodologique : La première partie de l’article propose quelques concepts théoriques ainsi que les éléments de réflexion pouvant être utiles pour guider les enseignants dans ce nouvel environnement de formation et d’évaluation des étudiants de médecine. Retour d’expérience : Dans la deuxième partie, nous décrivons une démarche de standardisation avec une analyse détaillée des stations d’ECOS non préalablement pilotées au sein d’un circuit formatif sur une cohorte de 310 étudiants de cinquième année à la Faculté de médecine à Nancy. L’analyse psychométrique a été menée dans le but d’évaluer la qualité des stations en vue de leur intégration dans un circuit sommatif.

ContexteL’équipe d’endocrinologie de notre établissement a formalisé un parcours de prise en charge des patients atteints de dysphorie de genre. Dans ce cadre, un programme d’ETP a été créé avec différents ateliers concernant, par exemple, la transition sur le plan médical et administratif ou encore la réalisation d’auto-injections d’hormones. Contrairement aux programmes d’ETP « classiques », celui-ci ne s’adresse pas à des patients atteints de maladie chronique, mais permet un véritable accompagnement personnalisé de personnes dysphoriques dans leur transition.ObjectifsÀ cette occasion, les pharmaciens ont été sollicités pour mettre en place un atelier concernant le traitement hormonal.MéthodeNous avons initié la démarche en envisageant l’organisation générale de la séance avec l’endocrinologue : type d’intervenants, lieu, public cible, etc. L’absence de données dans la littérature nous a obligés à créer l’intégralité du contenu de l’atelier : conducteur de séance, outils pédagogiques et d’évaluation. Nous avons ensuite déterminé les différentes thématiques à envisager. Nous voulions adapter les messages transmis en fonction de la population ciblée : adolescents ou adultes.RésultatsLe déroulement de l’atelier est décrit dans un conducteur de séance. Il est co-animé par un pharmacien, une endocrinologue et un patient expert. Un support visuel présente d’abord le fonctionnement des hormones physiologiques ainsi que leurs effets sur les caractères sexuels primaires et secondaires à l’adolescence. Il envisage aussi les traitements hormonaux (testostérone, analogues de la GnRH…), les effets attendus (pilosité, augmentation de la masse musculaire…), leurs chronologies ainsi que les effets indésirables associés à court et long terme (ostéoporose, maladies cardiovasculaires…). Ces médicaments, tous utilisés hors AMM, sont ensuite présentés dans 3 cartes ordonnance types. Des situations pratiques sont également abordées au travers de 5 cartes situations (préservation de la fertilité, automédication hormonale, hygiène de vie et traitement hormonal). Tous les outils sont déclinés dans les 2 sens de transition : FtM (Female to Male) et MtF. Depuis la mise en place du programme en février 2022, nous avons effectué 13 ateliers et 46 questionnaires d’évaluation ont été recueillis.Discussion – conclusionLes premiers retours sont très positifs. Les parents d’adolescents apprécient tout particulièrement cette séance qui leur permet de mieux comprendre le traitement hormonal. Nous avons aussi adapté le support visuel : vocabulaire simplifié, notions abordées pour un public à partir de 12 ans. La suite du travail concernera l’intégration des sources d’informations utilisées par les adolescents à savoir, les réseaux sociaux. Nous souhaitons utiliser des vidéos issues de ces médias, afin de déconstruire les fausses représentations et transmettre les messages clés corrects concernant la transition de genre.

Introduction Requests for hormonal transition in minors are increasing. To date, there is no national recommendation to guide these practices in France. Therefore, the SFEDP (French Society of Pediatric Endocrinology and Diabetology) has commissioned a group of experts to draft the first national consensus on this topic. Method Each chapter was prepared by one to three authors who conducted a literature review, and it was then reviewed and revised by the group as many times as necessary to achieve a consensus position. The final document was reviewed by a group of external experts. Results A consensus position was reached regarding the multi-professional nature of support for trans youth, the prescription of molecules aimed at inhibiting endogenous hormone secretion, and the use of gender-affirming hormone therapies, as well as the importance of offering gamete preservation. Non-hormonal aspects of support and various considerations, including ethical ones, were also discussed. Conclusion This work constitutes an initial set of recommendations for professionals involved in the hormonal transition of trans youth. Additional recommendations under the auspices of the French High Authority for Health would be worthy of being drafted, involving all relevant stakeholders to establish comprehensive official national guidelines that would secure the support and rights of these young individuals, especially those under 16 years old, as well as the professionals involved in their care.

Clinical practitioners think of frequent causes of diseases first rather than expending resources searching for rare conditions. However, it is important to continue investigating when all common illnesses have been discarded. Undergraduate medical students must acquire skills to listen and ask relevant questions when seeking a potential diagnosis. Our objective was to determine whether team-based learning (TBL) focused on clinical reasoning in the context of rare diseases combined with video vignettes (intervention) improved the clinical and generic skills of students compared with TBL alone (comparator). We followed a single-center quasi-experimental posttest-only design involving fifth-year medical students. The intervention group (n = 178) had a significantly higher mean overall score on the objective structured clinical examination (OSCE) (12.04 ± 2.54 vs. 11.27 ± 3.16; P = 0.021) and a higher mean percentage score in clinical skills (47.63

Training of health sciences students is based on the acquisition of clinical skills. Tools assessing the application of theoretical knowledge through written examinations or the tools evaluating student's performance at patient bedsides are characterized by a low reliability. The Objective Structured Clinical Examination (OSCE) was developed to address the lack of reliability and standardization of traditional forms of the assessment of clinical performance.

Gender incongruence corresponds to the mismatch between gender identity and gender/sex assigned at birth gender/sex assigned at birth. It can be accompanied by psychological distress. In line with the literature, an increase in consultations for gender incongruence has been observed, especially among young people. Multidisciplinary care should be offered to this population; here we provide an example of healthcare proposed at the university hospital of Nancy.

Gender incongruence corresponds to the mismatch between gender identity and gender/sex assigned at birth gender/sex assigned at birth. It can be accompanied by psychological distress. In line with the literature, an increase in consultations for gender incongruence has been observed, especially among young people. Multidisciplinary care should be offered to this population; here we provide an example of healthcare proposed at the university hospital of Nancy.

Objective: Heterozygous variations in microtubule-associated serine/threonine kinase 1 gene (MAST1) were recently described in the mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations (MCCCHCM, MIM 618273), revealing the importance of the MAST genes family in global brain development. To date, patients with MAST1 gene mutations were mostly young children with central nervous system involvement, impaired motor function, speech delay, and brain magnetic resonance imaging (MRI) abnormalities. Here, we report the clinical presentation of an adult patient with a rare and de novo MAST1 mutation with central hypogonadism that could extend this phenotype. Methods: A panel of 333 genes involved in epilepsy or cortical development was sequenced in the described patient. Routine biochemical analyses were performed, and hormonal status was investigated. Result: We report a 22-year-old man with a de novo, heterozygous missense variant in MAST1 (Chr19(GRCh37): g.12975903G > A, NP_055790.1:p.Gly517Ser). He presented with an epileptic encephalopathy associated with cerebral malformations, short stature, hypogonadotropic hypogonadism, and secondary osteopenia. Conclusion: This is the first patient with MAST1 gene mutation described with central hypogonadism, which may be associated with the phenotype of MCCCHCM syndrome.

Les mécanismes physiopathologiques du dysfonctionnement hépatique dans le syndrome de Turner (ST) ne sont pas complètement élucidés. Le rôle de l’inflammation systémique est admis dans l’apparition de certaines endocrinopathies et syndrome métabolique. Étudier les scores pro-inflammatoires biologiques (rapport neutrophiles/lymphocytes, NLR ; rapport plaquettes/lymphocytes, PLR ; rapport AST/plaquettes, APRI ; rapport AST/lymphocytes, ALRI ; GGT/plaquettes, GPR) chez des patientes ayant un ST et leurs implications potentielles dans la fonction endocrinienne et l’état de santé de ces patientes. Analyse rétrospective monocentrique, par appariement selon l’âge et l’IMC, de 66 patientes ST (25,6 ± 7,3 ans ; IMC 25,9 ± 6,3 kg/m2) avec 66 témoins sains, (24,7 ± 6,8 ans ; IMC 26,0 ± 6,7 kg/m2). Des anomalies hépatiques étaient présentes chez 54 % des sujets ST, versus 13 % pour les témoins sains (p < 0,0001). Les scores pro-inflammatoires APRI (ST : 0,11 ± 0,05, sains : 0,07 ± 0,03, p < 0,0001), ALRI (ST : 16,4 ± 9,79, sains : 10,05 ± 7,71, p < 0,0001), GPR (ST : 0,23 ± 0,27, sains : 0,08 ± 0,07, p = 0,0002), étaient significativement associés au ST, par rapport au groupe sain. Pas de différence pour les autres scores. Ces observations suggèrent la présence d’un état pro-inflammatoire chez les patientes ST et présentant des anomalies hépatiques. Les atteintes hépatiques sont principalement en lien avec une stéatose hépatique et un syndrome métabolique. Des études prospectives de plus grande envergure sont nécessaires pour confirmer nos résultats et explorer la valeur pronostique des indices inflammatoires et leur utilité potentielle pour la pratique clinique.

Training of health sciences students is based on the acquisition of clinical skills. Tools assessing the application of theoretical knowledge through written examinations or the tools evaluating student's performance at patient bedsides are characterized by a low reliability. The Objective Structured Clinical Examination (OSCE) was developed to address the lack of reliability and standardization of traditional forms of the assessment of clinical performance.

Abstract Pathophysiological mechanisms of liver dysfunction in Turner syndrome (TS) are not well understood. We examined systemic inflammatory indices (neutrophil-lymphocyte-ratio, NLR; AST-to-platelet ratio, APRI; AST-to-lymphocyte ratio, ALRI; and GGT to platelet ratio, GPR) in patients with TS and their potential application in describing the endocrine and metabolic abnormalities of these subjects. We performed a retrospective analysis of medical records of 79 TS patients (mean age 32.5 years ± 9.2 SD) followed in the University Hospital of Nancy. Using matched-pair analyses based on age and BMI, we compared 66 TS patients (25.6 ± 7.3 years; BMI 25.9 ± 6.3 kg/m2) to 66 healthy controls (24.7 ± 6.8 years; BMI 26.0 ± 6.7 kg/m2). Liver abnormalities were present in 54% of the TS subjects. In this subgroup of patients with hepatic abnormalities, inflammatory indices (NLR, APRI, ALRI, GPR) were significantly higher than that observed in TS patients with normal liver function. In the matched-pair analyses, indices APRI, ALRI, and GPR were higher in TS patients than in healthy controls. The results of the logistic regression revealed significant associations between a diagnosis of TS and APRI, ALRI, GPR, liver dysfunction, low bone mineral density, and hypothyroidism. In conclusion, systemic inflammatory indices NLR, APRI, ALRI and GPR are significantly associated with liver dysfunction in TS. These observations increase our understanding regarding the pathophysiological mechanisms of liver dysfunction in TS. Larger prospective studies are needed to confirm our findings and to explore a prognostic value of inflammatory indices and their potential utility for clinical practice.

La préservation de la fertilité devrait être proposée aux sujets transgenres avant d’initier une hormonothérapie. Peu d’études ont évalué le désir et les attitudes vis-à-vis de la parentalité et la préservation de la fertilité chez les sujets. Objectif : Décrire le désir, les attitudes concernant la parentalité et la préservation de la fertilité chez les sujets avec dysphorie de genre à l’aide d’un auto-questionnaire standardisé. Il s’agit d’une enquête transversale monocentrique descriptive par auto-questionnaire anonyme. Un échantillon de convenance a été retenu avec un recrutement consécutif. L’étude sera proposée aux 220 sujets transgenres suivis dans le cadre du suivi habituel. Le taux de réponses attendu est à 70 %, soit 155 sujets analysables. Les critères d’inclusion sont les suivants : – âge ≥ 18 ans ; – dysphorie de genre selon la classification CIM 11. L’auto-questionnaire était constitué de 44 questions réparties en deux parties : – la première partie concernée les données générales, les données sociodémographiques, la sexualité et la parentalité ; – la seconde partie s’intéressait à la fertilité. La population était constituée de 159 sujets. Au total, 52,2 % des sujets bénéficiait d’une hormonothérapie et 28 % ont eu au moins une chirurgie de réassignation. Seulement 8 sujets ont conservé leurs gamètes. Pour 80,5 % des sujets, il est important de connaître l’effet du traitement hormonal sur la capacité d’avoir ses propres enfants biologiques. Au total, 26 % exprimaient le désir d’avoir un enfant biologique, avec 36 % sujets ce désir peut évoluer dans le temps. Les trois obstacles majeurs étaient le souhait de ne pas retarder le traitement hormonal (34,6 %), le manque de connaissances (30,8 %) et la réglementation française (29,5 %). Seulement 38 % des personnes estiment avoir été informées sur les options de préservation de la fertilité avec nécessité de consulter Internet pour 61 % des sujets. Les personnes transgenres sont confrontées à de nombreux défis face à la préservation de la fertilité. La majorité considèrent leur fertilité comme importante mais manquent de connaissances concernant la préservation de fertilité. Le dilemme est de savoir comment conseiller nos jeunes patients avec un désir qui peut ne pas être présent initialement mais peut devenir important dans leur vie future ( Fig. 1 , Fig. 2 , Tableau 1 ).

One of the biggest tasks for health professionals is to address the needs of persons with chronic illnesses like type 1 diabetes (T1D) and to support the acquisition of all necessary self-management behaviors. Functional insulin therapy (FIT) enables patients to adapt insulin doses according to everyday situations and reduces the risk of complications of diabetes. The aim was to describe the co-development, with patient as partners, of an eHealth tool for the acquisition of skills in FIT, to evaluate the user's acceptability and learning effectiveness on a sample of T1D patients followed in the University Hospital of Nancy. Subjects were invited to participate between July and August 2020. A total of 35 participants from different professional categories, median age of 41 years (IQR 27; 60) were included. In 22 subjects having access to all learning activities, there were positive relationships between the success score and the task (Spearman's rank correlation coefficient rs = 0.5), between the intent to use and following parameters: perceived utility (rs = 0.694), educational adequacy (rs = 0.786), tasks rs = (0.664), technology (rs = 0.520) and ease of use (rs = 0.659). This pilot study describes a user-centered approach to development of an eHealth tool for the acquisition of self-management skills in FIT. The online tool was well accepted and showed a positive impact on learning. The concept presented here will be useful to prompt future eHealth interventions in T1D or other chronic conditions aiming to increase patients' autonomy to prevent disease-related complications.