ESPE Yearbook of Paediatric Endocrinology

Brief Summary: This retrospective cohort study included 54 pre- or peri-pubertal boys affected by hematological cancer who underwent a testicular biopsy for fertility preservation at the time of diagnosis, before any gonadotoxic treatment. The presence of cancer cells in immature testicular tissue of young boys was assessed by histology, immunohistochemistry (IHC) and PCR at the time of cryopreservation, before treatment. Contamination by cancerous cells was found in 10/28 boy...

Brief Summary: This phase 2, open-label, multicenter trial examined the efficacy of setmelanotide, a melanocortin-4 receptor agonist, in patients aged 6 to 40 years with obesity due to hypothalamic injury. Setmelanotide reduced body mass index (BMI) and hunger levels in most participants; 89% achieved a reduction in BMI of at least 5% after 16 weeks. These results indicate that setmelanotide is a promising treatment for hypothalamic obesity.This phase 2 ...

Brief Summary: This study compared 2 groups of adults defined by their leptin concentrations relative to fat mass. Adults with ‘relatively high leptin’ (RHL, n=646) or ‘relatively low leptin’ (RLL, n=644) concentrations were compared in insulin concentration, insulin secretion, and insulin sensitivity, at both the whole-body level and within adipose tissue. Individuals with RHL showed a distinct metabolic phenotype, characterized by insulin resistance in bo...

Brief Summary: This meta-analysis including 415 children and adolescents with T2D showed that GLP-1 receptor agonists reduced HbA1c by 1%, fasting blood glucose, and body weight by 1.6 kg, with no notable impact on blood pressure. An increased incidence of mainly gastrointestinal side effects was observed.Comment: Over the past decade, glucagon-like peptide 1 (GLP-1) receptor agonists have revolutionized the management of T2DM in adults.1 Thes...

Short summary: This study examined ex vivo the function of the sperm-specific CatSper-channel in almost 2300 men undergoing investigation for infertility. In 9 infertile men with normal semen analysis but pathologic sperm motility, biallelic variants in genes forming the CatSper-channel were found, either in CATSPER2 or CATSPERE. These men and their partners failed to conceive naturally and medically assisted reproduction (MAR) was successful only via intracytoplasmic...

To read the full abstract: Hum Mol Genet. 2018 Apr 1;27(7):1228-1240See comment on 6.16...

JCI Insight. 2020 Oct 27;5(23):e134310. doi: 10.1172/jci.insight.134310. PMID: 33108146.Lodge et al. screened 28 patients with pituitary stalk interruption syndrome (PSIS) for mutations in the FAT/DCHS (FAT atypical cadherin/ Dachsous cadherin-related) family of protocadherins. FAT2 and DCHS2 putative damaging variants were found in 6/28 patients with ectopic ...

Diabetes Care. 2020; 43:82–89. doi: 10.2337/dc19-0747.It is often difficult to identify maturity-onset diabetes of the young (MODY) in pediatric patients close to diabetes onset. Hence, misdiagnosis and unnecessary insulin treatment are still common.This study reports the discriminatory clinical features at diabetes onset in Swedish pediatric patients (age 1–18 y...

Int J Obes (Lond). 2021;45(1):66–76. doi: https://doi.org/10.1038/s41366-020-00673-6This study investigated the influence of MC4R variants on treatment effectiveness in a large cohort undergoing an outpatient treatment program. Carriers of MC4R loss-of-function (LoF) variants showed a lack of improvement in BMI, in contrast to non LoF carriers.As we learn th...

Cell Metab. 2020; 31(4):710–725.e7. doi: 10.1016/j.cmet.2020.02.016. PMID: 32197072.In brief: High-sugar diets cause thirst, obesity and metabolic dysregulation, leading to insulin resistance, the MetS, T2DM and shortened lifespan. This study shows that high sugar diets induce dehydration in adult Drosophila. Water supplementation fully rescued the shortened lifespan, but ...