ESPE Yearbook of Paediatric Endocrinology

Brief Summary: This study examined the complex process of sex determination in mice, with a specific focus on the role of WT1 isoforms, +KTS and -KTS, during gonadal development. The study provides insights into how the balance between these isoforms impacts sexual differentiation, with broader implications for understanding gonadal dysgenesis conditions, like Frasier syndrome.While the role of the SRY gene in testicular determination i...

Brief Summary: The study investigated how tirzepatide, a dual GIPR/GLP-1R agonist, modulates adipocyte nutrient metabolism by long-acting activation of the GIP receptor. It shows that tirzepatide enhances insulin signaling, glucose uptake, and lipid metabolism in adipocytes, contributing to improved metabolic outcomes in both fasted and fed states.Tirzepatide has recently been shown to have superior efficacy in reducing HbA1c, body weight, and serum trig...

Nature 2020; 583: 96–102https://www.nature.com/articles/s41586-020-2434-2The authors applied whole-genome sequencing (WGS) in 9,802 patients with a rare disease in a national health system to streamline diagnosis and to discover unknown aetiological variants in the coding and non-coding regions of the genome. WGS identified the genetic diagnosis in 1138/7065 extensively phenoty...

To read the full abstract: Nat Genet 2017;49:1231-1238This large international initiative is a major collaboration across 25 research institutes that was set up as part of the scientific community’s response to concerns regarding the notoriously poor reproducibility of scientific research. Up to now, many mouse gene knock-outs have been made and reported, but inconsistency between finding...

Eur J Endocrinol. 2021 Apr;184(4):575–585. doi: 10.1530/EJE-20-1030. PMID: 33606663.These authors examined the likelihood of remission of diabetes without pharmacological therapy in a retrospective analysis of 34 Italian patients with Transient neonatal diabetes (TNDM).TNDM is a type of neonatal diabetes that remits within the first a few months of life. It is most ...

Lancet. 2020 Sep 5;396(10252):684–692. Abstract: https://pubmed.ncbi.nlm.nih.gov/32891212/In brief: Activating mutations in FGFR3 inhibit endochondral ossification in achondroplasia resulting in disproportionate extreme short stature. In this randomised, double-blind, phase 3, placebo-controlled trial, once-daily subcutaneous treatment with vosoritide, a C-type natriuretic pep...

Nature. 2021 Sep;597(7876):381–386. doi: 10.1038/s41586-021-03822-7.Brief Summary: This study investigated the mutational background of somatic cells and rates of mutation in 29 distinct anatomical structures and compared these with the male germline from the same donor. The rate of mutation was lowest in spermatogonia.Characterization of mutations that occur in...

To read the full abstract: Horm Res Paediatr. 2019;92:1–14In March 2019, 46 international experts from 14 countries across 5 continents attended a 3-day workshop organized by the Growth Hormone Research Society (GRS) and produced this perspective on the diagnosis, management and therapy in children with short stature. In this context, this expert panel tackled almost all aspects related to the management of children with short stature, prov...

To read the full abstract: N Engl J Med. 2019;380:1316–1325.This large multicenter randomized double-blind placebo-controlled trial, in euthyroid women with thyroid peroxidase antibodies and a history of miscarriage or infertility, found no effect of levothyroxine substitution from before conception to the end of pregnancy on likelihood of live birth.In 2011, ...

To read the full abstract: Nature 2017;550:255-259Loss of appetite, and even aversion to food, is a common experience during periods of illness (e.g. infection and pyrexia) and/or treatment (e.g. chemotherapy). This responses is distinct from the body’s homeostatic mechanisms (the hypothalamic leptin receptor-AGRP-POMC-MC4R axis), which normally regulate appetite and weight gain in ch...