ESPE Yearbook of Paediatric Endocrinology

nathalie.rives@chu-rouen.fr Andrology. 2022; 10: 279–290. PMID: 34628730.Brief Summary: This multicentric prospective study performed an accurate evaluation of testicular tissue after frozen-thawing to investigate if this testicular tissue freezing (TTF) alters testicular architecture and integrity in pre-pubertal and pubertal boys with cancer. Promising histological outcomes were found. ...

tamara.diesch@ukbb.ch.Hum Reprod. 2021; 36: 2871-82. PMID: 34529796.Brief Summary: This retrospective study of the European Society for Blood and Marrow Transplantation (EBMT) registry describes the natural or assisted conceptions and their outcomes in patients <18-year-old at their first transplantation who received hematopoietic stem cell transplantation (HSCT) between 1995 and 2016. <p class=...

NIDDK Type 1 Diabetes TrialNet Study Group.Diabetes. 2022 Apr 1;71(4):610-623. https://pubmed.ncbi.nlm.nih.gov/35316839/Brief Summary: This is a comprehensive review on general population screening, a current hot topic in the field of type 1 diabetes (T1D). The authors provide a critical overview of the rationale for population screening, arguments for and against it, current efforts to gui...

Nature 2022;602(7895):156-161. https://pubmed.ncbi.nlm.nih.gov/34847567/Brief Summary: This study used a well-characterized mouse model of type 1 diabetes (T1D), the non-obese diabetic mouse (NOD), to examine the fate of CD8 T cells over the 5–30 week course of the disease. They found a stem-like autoimmune progenitor population in the pancreatic draining lymph nodes, which can self-re...

kirsty.spalding@ki.se Nat Med 2021; 27(11): 1941–1953 doi: 10.1038/s41591-021-01501-8Brief Summary: This study analysed adipocytes from obese and hyperinsulinemic adults. They demonstrate that obesity is associated with the induction of a cell cycle program in mature adipocytes, leading to so-called endoreplication, as a strategy to remain fu...

Cell Metabolism 2022;34(5):667-80.e6. doi: 10.1016/j.cmet.2022.03.006Brief Summary: In preclinical models and a phase 1 trial, a powerful new lipid small molecule was shown to act through a mechanism distinct from those of known hypolipidemic agents. Targeting HNF-1α may be a new therapeutic strategy.Comment: Familial hypercholesterolemia (FH) is the most common...

Nature. 2021;600(7890):720-6. doi: 10.1038/s41586-021-04137-3.PubMed ID: 34880500Brief summary: This mouse study identifies FABP4 (‘Fabkin’) as a new fat-derived hormone that regulates insulin-producing beta cells in the pancreas.We have learnt over the recent years that body fat is not simply a passive energy storage tissue, but instead secretes a number o...

To read the full abstract: Mol Genet Genomic Med., 2019 Oct;7(10):e00753. doi: 10.1002/mgg3.753. Epub 2019 Aug 23. PMID: 31441606The unique population in the State of Qatar comprises over 2.6 million people who derived primarily from the Middle East and North Africa (MENA) and South Asia regions. Around 15% are indigenous Qataris of Arabian Peninsula ancestries, who have also immigrated to the St...

To read the full abstract: J Clin Endocrinol Metab. 2019;104:5765–5779.It is not clear whether retesting is needed for a healthy cotwin of a twin pair discordant for congenital hypothyroidism (CH) at the first neonatal screening. Medda et al. retrospectively analyzed a cohort of 47 twin pairs discordant for CH at the first neonatal screening. On follow-up, 7 (15%) of cotwins who were initially negatively screened then tested positi...

To read the full abstract: J Clin Endocrinol Metab, April 2020, 105(4):e1478–e1488Silver–Russell syndrome (SRS) is a rare condition associated with pre and postnatal growth retardation. The most common causes of SRS are 11p15 ICR1 loss of methylation (LOM) and maternal uniparental disomy of chromosome 7 (mUPD7). Almost all patients with SRS have a history of intrauterine growth retardation (IUGR) and may be born small for gestational a...