ESPE Yearbook of Paediatric Endocrinology

Brief summary: This in vitro study reports that fully potent oocytes were generated from pluripotent stem cells of the tail of a sexually mature male mouse. These oocytes were able to give rise to offspring after fertilization.A particular challenge in the care of DSD patients in adulthood is the optimization of fertility potential. Fertility outcome is significantly reduced in all types of DSD depending on the underlying etiology as well as the...

Brief summary: Using a combination of expression studies in human embryos as well as functional studies in zebrafish and genetic sequencing of patient with congenital hypogonadotropic hypogonadism, this study identified a novel role for Jag1/Notch signaling in the development of GnRH neurons.GnRH neurons have a unique characteristic as they start life in the olfactory placode and then migrate into the hypothalamus during embryonic development, thanks to ...

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 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...

J Clin Endocrinol Metab. 2020 Nov 1;105(11):dgaa563. doi: 10.1210/clinem/dgaa563. PMID: 32818257.This manuscript describes an unusual case of a baby born with a homozygous Nkx2.2 mutation who developed severe neonatal diabetes mellitus and then on follow up went onto develop severe obesity characterized by marked hyperphagia.Nkx2.2 is an important transcription factor...

J Clin Endocrinol Metab. 2021;106:e1231–e1239. doi: 10.1210/clinem/dgaa901.The results of this study are a robust argument to implement neonatal screening for central congenital hypothyroidism (CCH) worldwide. Only few countries, such as the Netherlands, screen for CCH. Neurodevelopmental outcome data are scarce for CCH compared to primary congenital hypothyroidism (PCH) not only becau...

Eur J Endocrinol. 2020;183:637–645. doi: 10.1530/EJE-20-0617.This study provides for the first time clear evidence that the block and replace (BR) strategy (combination of carbimazole plus levothyroxine) is not superior to the carbimazole dose titration (DT) strategy for treatment of paediatric Graves’ disease.Wood et al. present the first randomized c...

J Clin Endocrinol Metab. 2021 May 13;106(6):1728–1741. doi: 10.1210/clinem/dgab080. PMID: 33571362This report gathered data from two large observational studies (NordiNet International Outcome Study and ANSWER Program) aimed at assessing the incidence of adverse drug reactions (ADRs), serious adverse events (SAEs), and their relation with rhGH dose. The whole study cohort included 37,7...

J Clin Endocrinol Metab. 2020 Oct 1;105(10):e3660–71. 10.1210/clinem/dgaa479. https://academic.oup.com/jcem/article/105/10/e3660/5879679In brief: This phase 3 multi-centre, open-label, single-arm study explores the efficacy, pharmacokinetics and safety of 6-monthly 45-mg subcutaneous leuprolide acetate in 59 pati...

Blood Rev. 2021; 45: 100730. https://pubmed.ncbi.nlm.nih.gov/32654893/This practical treatment protocol was developed by an experienced multidisciplinary team following a critical and updated systematic review of the literature.Hypogonadism is a common finding after antineoplastic treatment. It can either result from a primary gonadal disorder (due to pelvic irradiati...