ESPE Yearbook of Paediatric Endocrinology

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=...

trausti.oskarsson@ki.se Int J Cancer. 2021; 149: 1863-1876. PMID: 34278568.Brief Summary: This population-based study retrospectively compared hospital admissions for skeletal issues in a group of 26,334 cancer survivors (CCS) diagnosed before 20 years of age and 127,531 matched controls. 1,987 CCS vs 8,986 controls had at least one skeletal adverse event. Total hospitalization rate ratio (RR) for ske...

Diabetes. 2022;71:1591-1596. https://pubmed.ncbi.nlm.nih.gov/35499624/Brief Summary: This cross-sectional study compared trends in plasma C-peptide decline in 4,076 young people with type 1 diabetes (T1D), with trends in beta-cell loss in 235 pancreas donors. As expected, C-peptide declined over time, and this was particularly marked in children with T1D younger than 7 years. Of interest, p...

Translational psychiatry 2022;12(1):59. doi: 10.1038/s41398-022-01817-0Brief Summary: This population genetics study explored pairwise genome-wide genetic correlations between neuropsychiatric disorders with insulin-related somatic diseases and traits. There were likely protective effects of obsessive-compulsive disorder and anorexia nervosa on the risks of having MetS, obesity and T2DM; i...

shane.norris@wits.ac.za Lancet 2022; 399: 172–84. doi: 10.1016/S0140-6736(21)01590-7Brief Summary: This review found that the role of nutrition on adolescent growth and development has been poorly studied. Adolescence is a nutrition-sensitive phase for growth, in which the benefits of good nutrition extend to many other physiological sys...

To read the full abstract: J Clin Endocrinol Metab. 2020 Mar 1;105(3). pii: dgz216. doi: 10.1210/clinem/dgz216. PMID: 31769495.Septo-optic dysplasia (SOD) involves a combination of midline brain defects, pituitary hormone deficiency, and optical nerve hypoplasia. The etiology of SOD is multifaceted; genetic factors are known to play a role, yet the vast majority of SOD patients remain withou...

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. 2020; 105(3): dgz145. PMID: 31665349.Prenatal treatment with glucocorticoids (GC) is used in several clinical indications. However, the long-term outcome on offspring metabolic, somatic and cognitive health has raised significant concern. In rodents, high glucocorticoid levels inhibit development of beta cells during fetal life and lead to...

To read the full abstract: Science Advances 2019;5:eaaw7908This paper shows that the craniofacial and cognitive/behavioral phenotypes caused by alterations at the critical gene region for the Williams-Beuren syndrome is caused by changes in the chromatin remodeler BAZ1B in neural crest, and can serve as an entry point into the evolution of the modern human face and pro-sociality.Williams-Beuren syndrome is caused ...

To read the full abstract: Obes Rev. 2019 Nov;20(11):1523–1541. doi: 10.1111/obr.12923.This is a thoughtful position statement by a number of leading obesity researchers and statisticians. They draw attention to 10 errors that are common in the scientific literature: 1. Using self-reported outcomes and ‘teaching to the test’ (achieving better scores simply by repeat testing); 2. L...