Paediatric-to-adult transition in type 1 diabetes: A two-centre experience of a structured program, 2014 to 2022.

Background: Transition from paediatric to adult healthcare is a turning point for patients with Type 1 diabetes (T1D). A gradual coordinated process connecting paediatric and adult healthcare providers may improve adherence to adult follow-up.

Aims: To describe a transition process developed jointly by paediatric and adult diabetology units and compare patients progressing or not to follow-up in adult care setting.

Experience of People with Diabetes Treated with Insulin Delivery Systems in France: A Comparative Analysis of Multiple Daily Injections, Tubeless Pumps, Tubed Pumps, and Hybrid Closed Loops.

Introduction: While people with diabetes (PWD)'s experiences with their insulin delivery systems (IDS) are frequently reported in clinical trials, few real-world data exist on the subject. This study aimed to assess the real-world experience and satisfaction with IDS in PWD.

Methods: This cross-sectional survey of PWD treated with tubed or tubeless insulin pumps, hybrid closed loop (HCL) systems, or multiple daily injections (MDI) for at least 3 months ran from 4 to 16 May 2023.

Screening and care for preclinical stage 1-2 type 1 diabetes in first-degree relatives: French expert position statement.

The natural history of type 1 diabetes (T1D) evolves from stage 1 (islet autoimmunity with normoglycemia; ICD-10 diagnostic code E10.A1) to stage 2 (autoimmunity with dysglycemia; E10.A2) and subsequent clinical stage 3 (overt hyperglycemia), which is commonly the first time of referral.

Severe neurodevelopmental phenotype, diagnostic, and treatment challenges in patients with SECISBP2 deficiency.

Purpose: Defects in the gene encoding selenocysteine insertion sequence binding protein 2, SECISBP2, result in global impaired selenoprotein synthesis manifesting a complex syndrome with characteristic serum thyroid function tests due to impaired thyroid hormone metabolism. Knowledge about this multisystemic defect remains limited.

Methods: Genetic and laboratory investigations were performed in affected members from 6 families presenting with short stature and failure to thrive.

Precision treatment of beta-cell monogenic diabetes: a systematic review.

Background: Beta-cell monogenic forms of diabetes have strong support for precision medicine. We systematically analyzed evidence for precision treatments for GCK-related hyperglycemia, HNF1A-, HNF4A- and HNF1B-diabetes, and mitochondrial diabetes (MD) due to m.3243 A > G variant, 6q24-transient neonatal diabetes mellitus (TND) and SLC19A2-diabetes.

Long-term weight gain in children with craniopharyngioma.

Objective: Adamantinomatous craniopharyngioma mainly affects children. Excessive weight gain is a major long-term complication. The primary objective of this study was to assess long-term weight changes in children treated for craniopharyngioma.

Glucose pattern in children with classical congenital adrenal hyperplasia: evidence from continuous glucose monitoring.

Background: While the risk for hypoglycemia during acute illness is well described in children with classical congenital adrenal hyperplasia (CAH), there is little evidence for the prevalence of asymptomatic hypoglycemia and the daily glucose patterns in CAH. Herein, we explored the daytime glucose profile of children with classical CAH.

Methods: We conducted an observational study in 11 children (6 female; age 3.

Identifying patient-related predictors of permanent growth hormone deficiency.

Objective: Isolated childhood growth hormone deficiency (GHD) can persist into adulthood, and re-testing at the transition period is needed to determine whether continued growth hormone therapy is indicated. Here, our objective was to identify predictors of permanent GHD.

Design: Retrospective single-centre study of patients with childhood-onset GHD who were re-tested after adult height attainment.

Systematic Review of Treatment of Beta-Cell Monogenic Diabetes.

Background: Beta-cell monogenic forms of diabetes are the area of diabetes care with the strongest support for precision medicine. We reviewed treatment of hyperglycemia in GCK-related hyperglycemia, HNF1A-HNF4A- and HNF1B-diabetes, Mitochondrial diabetes (MD) due to m.3243A>G variant, 6q24-transient neonatal diabetes (TND) and SLC19A2-diabetes.

Screening strategies for glucose tolerance abnormalities and diabetes in people with cystic fibrosis.

The increase in life expectancy of patients with cystic fibrosis has come with new comorbidities, particularly diabetes. The gradual development of glucose tolerance abnormalities means that 30 to 40% of adults will be diabetic. Cystic fibrosis-related diabetes is a major challenge in the care of these patients because it is a morbidity and mortality factor at all stages of the disease.

Early treatment of neonatal diabetes with oral glibenclamide in an extremely preterm infant.

Early treatment of neonatal diabetes with sulfonylureas has been proven to produce marked improvements of neurodevelopment, beside the demonstrated efficacy on glycemic control. Several barriers still prevent an early treatment in preterm babies including the limited availability of suitable galenic form of glibenclamide. We adopted oral glibenclamide suspension (Amglidia) for the early treatment of neonatal diabetes due to an homozygous variant of KCNJ11 gene c.

Assessment of Puberty and Hypothalamic-Pituitary-Gonadal Axis Function After Childhood Brain Tumor Treatment.

Context: Endocrine complications are common in pediatric brain tumor patients.

Objective: To describe hypothalamic-pituitary-gonadal axis (HPGA) function in patients treated in childhood for a primary brain tumor more than 5 years earlier, in order to identify risk factors for HPGA impairment.

Methods: We retrospectively included 204 patients diagnosed with a primary brain tumor before 18 years of age and monitored at the pediatric endocrinology unit of the Necker Enfants-Malades University Hospital (Paris, France) between January 2010 and December 2015.

Efficacy of a Hybrid Closed-Loop Solution in Patients With Excessive Time in Hypoglycaemia: A Post Hoc Analysis of Trials With DBLG1 System.

Background: Automated insulin delivery is an efficient treatment for patients with type 1 diabetes. Little is known on its impact on patients with excessive time in hypoglycaemia.

Methods: We performed a post hoc analysis of three randomized control trials that used the DBLG1 (Diabeloop Generation 1) hybrid closed-loop solution.

Wolfram syndrome in a young woman with associated hypergonadotropic hypogonadism - A case report.

Objectives: Wolfram syndrome (WFS) is a rare neurodegenerative disease. Clinical diagnosis is made when nonautoimmune insulin-dependent diabetes is found to be associated with bilateral optic atrophy in a patient early in life. Frequent associations include diabetes insipidus, diabetes mellitus, optic atrophy and deafness.

Mitchell-Riley Syndrome: Improving Clinical Outcomes and Searching for Functional Impact of RFX-6 Mutations.

Aims/hypothesis: Caused by biallelic mutations of the gene encoding the transcription factor , the rare Mitchell-Riley syndrome (MRS) comprises neonatal diabetes, pancreatic hypoplasia, gallbladder agenesis or hypoplasia, duodenal atresia, and severe chronic diarrhea. So far, sixteen cases have been reported, all with a poor prognosis. This study discusses the multidisciplinary intensive clinical management of 4 new cases of MRS that survived over the first 2 years of life.

Sulfonylurea for improving neurological features in neonatal diabetes: A systematic review and meta-analyses.

Objective: In monogenic diabetes due to KCNJ11 and ABCC8 mutations that impair KATP- channel function, sulfonylureas improve long-term glycemic control. Although KATP channels are extensively expressed in the brain, the effect of sulfonylureas on neurological function has varied widely. We evaluated published evidence about potential effects of sulfonylureas on neurological features, especially epilepsy, cognition, motor function and muscular tone, visuo-motor integration, and attention deficits in children and adults with KCNJ11 and ABCC8-related neonatal-onset diabetes mellitus.

Clinical practice versus guidelines for the screening of cystic fibrosis-related diabetes: A French survey from the 47 centers.

This study aimed to analyze clinical practices concerning cystic fibrosis-related diabetes (CFRD) screening in France. A web-based questionnaire was distributed between December 1, 2020 and January 31, 2021 among 47 cystic fibrosis centers including pediatric, adult, and mixed units. In accordance with guidelines, 92.

Hybrid closed-loop insulin delivery versus sensor-augmented pump therapy in children aged 6-12 years: a randomised, controlled, cross-over, non-inferiority trial.

Background: Time in range (TIR) goals are rarely met in children with type 1 diabetes, except at the cost of increased hypoglycaemia episodes. Our objective was to evaluate the safety and efficiency of the Diabeloop DBL4K (Diabeloop, Grenoble, France) hybrid closed-loop system in prepubescent children.

Methods: We did a multicentre, open-label, randomised, controlled, non-inferiority, two-session crossover study in the paediatric endocrinology departments of three university hospitals in France and Belgium.