ESPE Yearbook of Paediatric Endocrinology

Brief Summary: This large patient cohort of children with endogenous Cushing syndrome describes their anthropometric, clinical, and biochemical characteristics, as well as their associated complications and outcomes. The findings inform diagnosis, treatment, and management.Comment: Endogenous Cushing syndrome is rare in children and adolescents, and has variable manifestations (1-6). This prospective, multicenter cohort of 342 children and adolescents ag...

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 retrospective study evaluated the risk and clinicopathological features of second primary thyroid cancer (SPTC) in cancer survivors. The Surveillance, Epidemiology, and End Results (SEER) Program collected cancer incidence and mortality data from 8 population-based registries. They identified 7066 patients with SPTC and 83,113 patients with primary thyroid cancer (TC). The standardized incidence ratio (SIR) of SPTC in cancer survivors was higher than in the...

Brief Summary: This prospective, pragmatic, open-label study assessed the impact of a systematic and equitable digital-health-team-based care program designed to achieve tight glycemic targets (HbA1c <7%) through early technology use and remote patient monitoring, in young people with newly diagnosed T1D. The program was successful: 68% of participants achieved target HbA1c, and an average 65% time in glucose range at one-year post-diagnosis.Despite ...

Brief Summary: This is the first International Consensus Guidance on the monitoring of children, adolescents and adults with early-stage (pre-symptomatic) Type 1 Diabetes (T1D), defined as those individuals positive for islet autoantibodies and with either normoglycemia or dysglycemia.With the progressive increase in screening programs for T1D around the world, there is a growing number of individuals identified with early-stages pre-symptomatic T1D (1)....

Brief Summary: This longitudinal cohort study of 885 infants with high genetic risk of type 1 diabetes (T1D) explored the temporal association between SARS-CoV-2 infection and development of T1D–associated autoimmunity. The incidence rate of islet autoantibodies was higher in children with vs. without SARS-CoV-2 antibodies (7.8 vs. 3.5 per 100 person-years). Hence, SARS-CoV-2 infection appears temporally associated with the development of islet autoantibodies.<p class...

Brief Summary: This retrospective study analyzed data from real-world users of the MiniMed™ 780G System. Hybrid closed-loop algorithms have proven to be successful in achieving glycemic goals in people with diabetes. This performance has been consistently observed in various age groups and geographic areas.After the introduction of the first commercial automated insulin systems in 2016, the number and variety of these devices expanded rapidly (1). T...

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 ...

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=...

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...