ESPE Yearbook of Paediatric Endocrinology

Brief summary: In this longitudinal study, blood glucose trajectories and their relationship with autoantibodies appearance were assessed in 1050 children with high genetic risk of type 1 diabetes (T1D) between 4 months and 3.6 years. Post-prandial blood glucose levels increased around 2 months prior to autoantibody seroconversion, with further increases thereafter, suggesting that islet autoimmunity co-occurs or follows insults on the β-cells.This ...

Brief summary: This paper describes 18 patients with bi-allelic leptin deficiency (LEP, n=11) or leptin receptor deficiency (LEPR, n=7), including 10 new cases and two novel variants. In addition, in a review of the literature (until July 2022), the authors identified n=75 patients living with LEP deficiency and n=90 with LEPR deficiency (n=152 included for comparison between groups).<p class=...

Brief summary: An analysis of contraception data in 204 countries and territories between 1970 and 2019 shows that 162.9 million women had unmet needs for contraception (65.5% in sub-Saharan Africa and in south Asia). Demand was not satisfied for 64.8% of women aged 15–19 years, the highest proportion of any age group.This study included women aged 15–49 years and analysed contraceptive prevalence rate (CPR) and ‘demand satisfied’. We...

Brief summary: This basic science study in mice shows how melanocortin neurons integrate reproductive signaling with energy homeostasis. In melanocortin neurons, estradiol (E2) enhances the anorectic action of leptin. Cited1 is enriched in these neurons and its loss exacerbates diet-induced obesity in female mice. Using several specific mouse models it is demonstrated how hypothalamic Cited1, via ERα and Stat3 interactions, link the effects of E2 and leptin on food intake...

Brief summary: This observational study in three different cohorts found an increased risk for atherothrombotic disease associated with the commonly used sugar substitute erythritol. Untargeted metabolomics (in cohort 1, n=1157) and targeted metabolomics (in cohorts 2 and 3, n=2149 USA and n=833 Europe, respectively) investigations revealed an increased risk for major adverse cardiovascular events (MACE) including death, myocardial infarction and str...

Brief Summary: This prospective cohort study of 146 mother-neonate pairs determined fetal-maternal exposure to EDCs from October 2021 – October 2022 and examined their associations with fetal growth parameters. Fetal exposure to bisphenol-A (BPA) showed a linear association with asymmetric fetal growth patterns.Their definition of fetal growth restriction (FGR) when assessed by transabdominal ultrasonography at 38.3 weeks gestational age was a fetal...

Brief Summary: This paper describes a novel ambulatory fraction collector that can be used with microdialysis to obtain high resolution steroid profiles over a 24-hour period.Comment: The natural circadian and ultradian secretion of adrenal hormones makes single timepoint measurements of these hormones uninformative for clinical decision making (1-3). Repeated sampling during the day requires admission into an atypical, and often disruptive, clinical set...

Brief Summary: This cross-sectional study in n=19 first-degree relatives of type 2 diabetes mellitus (T2DM) patients and n=19 control individuals without obesity found that while the intrinsic adipogenic potential of subcutaneous adipose tissue (SAT) is unaffected by a family history of T2DM, alterations in lysyl oxidase (LOX) mRNA expression and polyunsaturated fatty acids in triglycerides are linked to increased T2DM risk, independent of obesity. These findings suggest that ...

Brief Summary: This cross-sectional analysis showed that DNA methylation (DNAm) patterns differ between youth-onset and adult-onset T2D. In utero exposure to maternal diabetes was linked to these distinct changes. These findings highlight unique molecular pathways disrupted by youth-onset T2D, and suggest potential intervention targets to prevent its health impacts.Comment: Growing evidence suggests that T2D in children and adolescents is essentially dif...

Brief Summary: This retrospective, multicenter study examined patients who were diagnosed with congenital hypothyroidism (CH) through the newborn screening (NSP) program in Turkey. It assessed the prevalence of temporary congenital hypothyroidism (TCH), examined the causes of permanent congenital hypothyroidism (PCH), and identified laboratory and clinical indicators to distinguish TCH and PCH.Congenital hypothyroidism (CH), the most prevalent endocrine ...