ESPE Yearbook of Paediatric Endocrinology

Brief summary: This longitudinal observational multicentre retrospective study, collected data on 95 young prepubertal or early pubertal girls (age >10.9 years, Tanner stage ≤2) with premature ovarian failure (POI) or hypogonadotropic hypogonadism (HH). Their hypogonadism was due to different causes and was treated with transdermal 17β-oestradiol, with a follow-up of at least 1 year. The study aimed to identify the most physiological and effective therapeutic sc...

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: The authors developed a model to estimate the worldwide prevalence of Type 1 diabetes (T1D) in 2040. Compared to 2021, when an estimated 8.4 million individuals had T1D (including 18% < 20 years), the prevalent cases are expected to increase to 13.5–17.4 million in 2040, with the largest relative increase taking place in low- and middle-income countries.This model, using published data (available from only 97 countries worldwide) ...

In Brief: The authors created mouse embryos in the laboratory from a combination of multiple stem cell lines. These embryos were developed ex vivo up to the equivalent of day 8.5 post-fertilization. Embryos developed within an extraembryonic yolk sac and were similar to whole natural embryos, with defined forebrain and midbrain regions, a beating heart-like structure, a neural tube and somites, a tail bud containing neuromesodermal progenitors, a gut tube, and also pr...

Brief Summary: This study identifies a reliable cut-off value for the glucagon stimulation test, which may be used as an alternative to the insulin tolerance test (ITT) in the diagnosis of growth hormone deficiency (GHD) in transition age.Many patients with childhood-onset growth hormone deficiency (GHD) show normal GH secretion when re-tested at the end of growth, especially those with isolated GHD and normal or small pituitary gland (1). ITT is recogni...

Brief Summary: This study identified a conserved enhancer element located 5’ of the mammalian SRY gene through comparative genomic analysis, which plays a crucial role in the regulation of sexual differentiation. NR5A1 binds to this element. The researchers discovered two distinct hemizygous base pair substitutions within this NR5A1 binding site, both of which involve highly conserved residues: one in a sporadic case of XY sex reversal and the other in a large fa...

Brief Summary: This cross-sectional study identifies two pathogenic variants in the Delta-like noncanonical notch ligand 1 ( DLK1 ) gene in a French cohort of 121 children with idiopathic central precocious puberty (CPP).DLK1 is a noncanonical ligand of the Delta Notch pathway known to be involved in adipocyte differentiation. Its hypothalamic expression suggests a potential role in coordinating reproductive and metabolic functions. Pathogenic v...

Brief Summary: This study created a temporally- and spatially-resolved proteomic atlas of human adipogenesis. It highlights cell restructuring and spatial reorganization of metabolic pathways to optimize cells for lipid accumulation and identifies C19orf12 as a differentiation-induced protein that regulates lipid storage in adipocytes.This study provides a comprehensive and detailed proteomic map that captures the dynamic changes in protein abundance and...

Brief Summary: Data from two large registries of children with homozygous familial hypercholesterolemia (HoFH) revealed that initiating lipoprotein apheresis in childhood, compared to pharmacotherapy, improves plasma LDL-C level and reduces cardiovascular death.Comment: Homozygous familial hypercholesterolaemia (HoFH) is a rare inherited disorder, which results in extremely elevated low-density lipoprotein cholesterol (LDL-C) levels and premature atheros...

Brief Summary: This randomized-control study at two rural hospitals in Malawi investigated the feasibility of continuous glucose monitoring (CGM) to improve care of patients with Type 1 diabetes (T1D) in a low-income and limited literacy setting. CGM was feasible with potential benefits, but the authors highlight several challenges in implementing advanced diabetes care in such settings.This trial 2:1 randomized 45 patients with T1D to Dexcom G6 CGM (n=3...