ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: Sci Transl Med 2017;9(419)Can growth velocity be monitored by a lab test? Previous approaches to this methodological challenge focused on the correlation of linear growth to more established parameters such as C-type natriuretic peptide (CNP). Potentially more specific markers of endochondral ossification - with the exception of amino-terminal propeptide of CNP (...

Journal of Clinical Endocrinology and Metabolism. 2018; 103(6): 2403–7.URL: http://www.ncbi.nlm.nih.gov/pubmed/29659879Summary: Orlistat therapy reduced serum triglycerides by 50–60% in two children with Type 1 hyperlipoproteinemia (T1HLP) in a randomized, open-label, crossover trial with four periods and two sequences. The treatment was safe and is suggested as fir...

To read the full abstract: J Pediatr. 2019;206:56–65.e8.IGF-I plays a key role in fetal growth and development [1]. IGF-I exerts pleiotropic effects including cell proliferation, survival and differentiation, but also influencing metabolism and angiogenesis.Very preterm newborns show a rapid decline serum IGF-I concentrations that remain low for the first week...

N Engl J Med. 2022 Jan 20;386(3):209-219. https://pubmed.ncbi.nlm.nih.gov/35045227/Brief Summary: This multicenter, randomized, crossover trial in 74 very young children (age: 1-7 years) with type 1 diabetes (T1D) tested the safety and efficacy of a hybrid closed-loop system for insulin delivery (CamAPS FX) compared with sensor-augmented pump therapy over 16 weeks. The hybrid closed-loop sy...

To read the full abstract: Genet Med. 2020;22:44–52.This single center, randomized, double-blind, placebo-controlled phase 3 study investigated the effects of levothyroxine, folic acid, or both in combination over 12 months on global development in 143 infants with Down syndrome (DS). Over the last decades, treatment of DS associated co-morbidities has improved their life-expectancy. However, a therapy to improve mental development is still...

Transl Psychiatry. 2022; 12(1): 109. PMID: 35296634 https://pubmed.ncbi.nlm.nih.gov/35296634/Brief Summary: This mouse study identified sex and genotype-dependent effects of oral corticosterone on behavioral and physiological outcomes as well as on gene expression and epigenetics in hippocampal subregions.Glucocorticoids exert their effects by binding to glucocorticoid...

To read the full abstract: The New England journal of medicine. 2019;380(22):2136–45.Here, Inge et al. explored whether the outcomes of Roux-en-Y gastric bypass (RYGB) differ according to the age of the patient at the time of surgery. They analysed retrospective data on the 5-year outcomes of RYGB in 161 adolescents from the Teen-LABS-study (1) and in 396 adults with a history...

To read the full abstract: N Engl J Med. 2019;380(22):2136–2145These authors describe the 5-year follow-up of a multicenter patient cohort of adolescents with severe obesity who underwent gastric bypass surgery to lose weight and improve cardiometabolic risk factors (the Teen-LABS study; n=161, age 13–19 years at time of surgery). They compared these data with a simila...

Brief summary: This collaborative study identified 13 monoallelic rare loss-of-function (LoF) variants in the serotonin 2C receptor (HTR2C) gene in 19 unrelated individuals with hyperphagia, severe early-onset obesity, and some degree of maladaptive behaviour. The authors used exome sequencing in 2548 individuals with severe obesity and 1117 control individuals without obesity. They found that HTR2C variants cause monogenic obesity by demonstrating t...

Ann Neurol. 2021 Jul;90(1):143-158. doi: 10.1002/ana.26127. PMID: 33999436.Brief Summary: This study identifies biallelic HID1 variants in 7 patients with hypopituitarism and infantile encephalopathy. It provides genetic and functional evidence for a novel gene-disease connection and expands the list of central nervous system diseases caused by impairment of the trans-Golgi network.<p ...