Comparison of BoneXpert and IB-Lab-PANDA automated Bone Age Evaluation in Children With Growth and Puberty Disorders.

Context: Bone age (BA) evaluation in children presenting growth problems is time-consuming. Artificial intelligence (AI) BA assessment programs are increasingly used. However, agreement between different commercially available methods in the same population, or possible age-, puberty- or sex-related differences have not been sufficiently evaluated.

Prevalence of Differences of Sex Development Among Pediatric Endocrine Care Centers in Switzerland From 2000 to 2019.

Objective: Reliable data on prevalence of differences of sex development (DSD) are lacking. We aimed to estimate population-based prevalence of DSD among pediatric endocrine care centers in Switzerland.

Design: Retrospective population-based study including children and adolescents with DSD according to Chicago Consensus, born in Switzerland from 2000 through 2019.

Endocrine-Related Adverse Conditions in Pediatric Patients Treated with Immune Checkpoint Inhibitors: A Position Statement from the Clinical Practice Committee of the European Society for Pediatric Endocrinology.

Immune checkpoint inhibitors (ICIs) are new cancer therapies that function either by blocking the interaction between programmed cell death 1 (PD-1) and programmed cell death ligand 1 (PD-L1) or by inhibiting cytotoxic T-lymphocyte antigen 4 (CTLA-4). The utilization of ICIs has improved outcomes for advanced, relapsed, or refractory malignancies in adults and children. Concerns have been raised due to immune-related adverse events (irAEs).

Endocrine management of transgender adolescents: Expert consensus of the french society of pediatric endocrinology and diabetology working group.

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.

[Interdisciplinary care for gender diverse adolescents. The example of the Centre hospitalier universitaire vaudois (CHUV)].

This article outlines the management of transgender and non-binary adolescents at CHUV. The current rise in visibility of this topic is associated with an increased demand for intervention and at the same time with an increased generation of continuously expanding medical evidence to guide interventions. The close collaboration among various specialized adolescent health services enables an interdisciplinary evaluation of diagnostic elements and indications for potential psychological, social or medical interventions.

Mosaic RASopathies concept: different skin lesions, same systemic manifestations?

Background: Cutaneous epidermal nevi are genotypically diverse mosaic disorders. Pathogenic hotspot variants in , , and less frequently and may cause isolated keratinocytic epidermal nevi and sebaceous nevi or several different syndromes when associated with extracutaneous anomalies. Therefore, some authors suggest the concept of mosaic RASopathies to group these different disorders.

Pubertal origin of growth retardation in inborn errors of protein metabolism: A longitudinal cohort study.

Objectives: Inherited amino-acid metabolism disorders (IAAMDs) require lifelong protein-restricted diet. We aimed to investigate: 1/ whether IAAMDs was associated with growth, pubertal, bone mineral apparent density (BMAD) or body composition impairments; 2/ associations linking height, amino-acid mixture (AAM), plasma amino-acids and IGF1 concentrations.

Design: Retrospective longitudinal study of 213 patients with neonatal-onset urea cycle disorders (UCD,n = 77), organic aciduria (OA,n = 89), maple syrup urine disease (MSUD,n = 34), or tyrosinaemia type 1 (n = 13).

Turner syndrome: skin, liver, eyes, dental and ENT evaluation should be improved.

Introduction: Turner syndrome association with multi-organ system comorbidities highlights the need for effective implementation of follow-up guidelines. We aimed to assess the adequacy of care with international guidelines published in 2007 and 2017 and to describe the phenotype of patients.

Methods: In this multicenter retrospective descriptive cohort study, we collected growth and pubertal parameters, associated comorbidities, treatment, and karyotype in patients diagnosed at age <18 years between 1993 and 2022.

[Monogenic diabetes : a pioneer in precision medicine management].

Diabetes mellitus in children is subdivided into several categories depending on the underlying pathological mechanism. Type 1 diabetes is due to the autoimmune destruction of pancreatic beta-cells, type 2 diabetes to progressive impairment in insulin secretion or insulin sensitivity, and monogenic diabetes due to genetic abnormalities, impairing insulin secretion. In monogenic diabetes, genetic defects result in pancreatic or beta-cell defects (abnormal function or destruction), resulting in neonatal or MODY (Maturity-Onset Diabetes of the Young) diabetes, depending on the age of onset.

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.

The 2021 European Training Requirements in Paediatric Endocrinology and Diabetes.

The aims of the 2021 European Training Requirements (ETR) in Paediatric Endocrinology and Diabetes (PED) are to (1) provide standards to harmonize training programmes in PED between different European countries, (2) establish clearly defined standards of knowledge and skills required to practice PED at the tertiary care level, (3) foster the development of a network of competent tertiary care centres for PED in Europe and globally, and (4) improve the quality of care for children and adolescents requiring PED services. This ETR in PED specifies the requirements for training institutions, trainers, and trainees. It also provides the detailed syllabus/core content that trainees are expected to achieve in order to become competent independent clinicians in PED.

Neonatal Diabetes Mellitus.

Neonatal Diabetes (ND) mellitus is a rare genetic disease (1 in 90,000 live births). It is defined by the presence of severe hyperglycaemia associated with insufficient or no circulating insulin, occurring mainly before 6 months of age and rarely between 6 months and 1 year. Such hyperglycaemia requires either transient treatment with insulin in about half of cases, or permanent insulin treatment.

[Polycystic ovary syndrome in obese or type 1 diabetic (T1D) adolescent girls].

Polycystic ovary syndrome (PCOS) is frequent during adolescence (prevalence ≈ 6 %), and the prevalence increases in obese or type 1 diabetic (T1D) adolescent girls. During puberty, PCOS diagnosis is difficult because of the overlap with some pubertal physiologic signs. The 2017 international consortium suggests two required diagnostic criteria: persistent menstrual disturbances and hyperandrogenism.

Congenital hyperinsulinism: 2 case reports with different rare variants in ABCC8.

Congenital hyperinsulinism (CHI) is a rare glucose metabolism disorder characterized by unregulated secretion of insulin that leads to hyperinsulinemic hypoglycemia (HH). Most cases are caused by mutations in the KATP-channel genes ABCC8 and KCNJ11. We report 2 patients that experienced severe HH from the first day of life.

Long-term Metabolic and Socioeducational Outcomes of Transient Neonatal Diabetes: A Longitudinal and Cross-sectional Study.

Objective: Transient neonatal diabetes mellitus (TNDM) occurs during the 1st year of life and remits during childhood. We investigated glucose metabolism and socioeducational outcomes in adults.

Research Design And Methods: We included 27 participants with a history of TNDM currently with ( = 24) or without ( = 3) relapse of diabetes and 16 non-TNDM relatives known to be carriers of causal genetic defects and currently with ( = 9) or without ( = 7) diabetes.

Glibenclamide oral suspension: Suitable and effective in patients with neonatal diabetes.

Background: Results of genetic have led to off-label glibenclamide treatment in patients with neonatal diabetes (NDM) because of potassium channel mutations. No pediatric form of glibenclamide was available. Glibenclamide was designated an orphan drug designation for NDM and a suspension was developed.

Improved General and Height-Specific Quality of Life in Children With Short Stature After 1 Year on Growth Hormone.

Objective: Short stature in children and adolescents may lead to social and emotional stress, with negative effects on quality of life (QoL). GH treatment may improve QoL through height normalization. Our objective here was to evaluate general and height-specific QoL after 1 year of GH treatment.

Successful off-label sulfonylurea treatment of neonatal diabetes mellitus due to chromosome 6 abnormalities.

Chromosome 6 abnormalities such as paternal uniparental isodisomy, paternal 6q24 duplication, and maternal DMR (differentially methylated region) hypomethylation are a common cause of transient neonatal diabetes mellitus (TNDM). Oral sulfonylurea (SU) is used off-label to treat permanent neonatal diabetes mellitus owing to potassium channel mutation but has not been evaluated in TNDM. Our objective was to evaluate the efficacy and safety of SU therapy in chromosome 6-related TNDM.

A novel NEUROG3 mutation in neonatal diabetes associated with a neuro-intestinal syndrome.

Neonatal diabetes mellitus (NDM) is a rare form of non-autoimmune diabetes usually diagnosed in the first 6 months of life. Various genetic defects have been shown to cause NDM with diverse clinical presentations and variable severity. Among transcriptional factor genes associated with isolated or syndromic NDM, a few cases of homozygous mutations in the NEUROG3 gene have been reported, all mutated patients presenting with congenital malabsorptive diarrhea with or without diabetes at a variable age of onset from early life to childhood.

Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy.

Lipoate serves as a cofactor for the glycine cleavage system (GCS) and four 2-oxoacid dehydrogenases functioning in energy metabolism (α-oxoglutarate dehydrogenase [α-KGDHc] and pyruvate dehydrogenase [PDHc]), or amino acid metabolism (branched-chain oxoacid dehydrogenase, 2-oxoadipate dehydrogenase). Mitochondrial lipoate synthesis involves three enzymatic steps catalyzed sequentially by lipoyl(octanoyl) transferase 2 (LIPT2), lipoic acid synthetase (LIAS), and lipoyltransferase 1 (LIPT1). Mutations in LIAS have been associated with nonketotic hyperglycinemia-like early-onset convulsions and encephalopathy combined with a defect in mitochondrial energy metabolism.

High Prevalence of Polycystic Ovary Syndrome in Type 1 Diabetes Mellitus Adolescents: Is There a Difference Depending on the NIH and Rotterdam Criteria?

Background: Polycystic ovary syndrome (PCOS) is more frequently observed in type 1 diabetes mellitus (T1DM) adult women than in nondiabetic women. No such prevalence has yet been studied in adolescent girls with T1DM.

Aim: The aim of this study was to evaluate the prevalence of PCOS in adolescent girls with T1DM and to determine the clinical and hormonal features associated with the disorder.

The transition from pediatric to adult care for youth with epilepsy: Basic biological, sociological, and psychological issues.

Transition from pediatric to adult health care for adolescents with epilepsy is challenging for the patient, family, and health care workers. This paper is the first of three that summarize the main findings from the 2nd Symposium on Transition in Epilepsies, held in Paris from June 14-25, 2016. In this paper we describe five basic themes that have an important effect on transition.