ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: Diabetes Care. 2017;40:849-855Coping strategies for people with chronic diseases include working on risk factors as well as using and employing resilience factors in daily coping strategies. Both strengthes and difficulties may be experienced by people with T1DM. In this study, strengths were strongly related to key resilient outcomes, even in the presence of well-documente...

To read the full abstract: Nature 2018;555:210Up to now, it was thought that genetics would play a major role in shaping the gut flora. However, this study, in a cohort of 1,046 healthy Israeli individuals with a well-defined clinical phenotype, suggests that only 2-8% of human microbiome variability is explained by genetics, as compared to 92-98% explained by environmental influences. This...

To read the full abstract: Science 2017:eaao1807Consanguinity is common in some modern cultures. This study examined the question whether ancient humans, who often had limited choices of mates, bred among close relatives. Here, Sikora et al. report genome sequences from 4 early humans buried close together in western Russia about 34,000 years ago. The individuals ...

Brief summary: Treatment of Graves’ disease comprises anti-thyroid drugs, radioactive iodine ablation or total thyroidectomy (1,2). While definitive treatment of Graves’ disease is widely used in adults, anti-thyroid drug treatment is often used in the pediatric age group over years (1,2). The presented prospective monocenter study provides detailed information on quality of life of adolescents undergoing total thyroidectomy.Two recent studies ...

Brief summary: Steroid analysis using LC-MS/MS in association with clinical parameters may be used to develop a diagnostic score that could successfully differentiate premature pubarche (PP) from non-classic congenital adrenal hyperplasia (NCCAH), thereby obviating the need for ACTH stimulation testing.Late onset, non-classic congenital adrenal hyperplasia (NCCAH) due to 21-hydroxylase deficiency (21-OHD) should be ruled out in children with premature pu...

Brief summary: The AMOS2 study is a randomized, open label, multicentre trial. It reports 2-year BMI changes in n=25 adolescents (age 13–16 years) after metabolic and bariatric surgery (MBS) (Roux-en-Y gastric bypass n=23, sleeve gastrectomy n=2) compared to n=23 adolescents who received intensive non-surgical treatment. After 2 years, BMI change was −12.6 kg/m2 in the MBS group compared to only −0.2 kg/m2</s...

To read the full abstract: Cell Rep. 2020 Jan 7;30(1):18–24.e5. doi: 10.1016/j.celrep.2019.12.009. PMID: 31914385.The hypothalamic-pituitary axis influences many body organ systems and its dysfunction can be fatal. A proper in vitro model is important for understanding the disease mechanisms affecting pituitary function. Based on their previous anterior pituitary modelli...

To read the full abstract: Nat Commun. 2020;11:1343.Li et al. describe a new genetic mechanism causing Pendred syndrome and extend evidence for an oligogenic origin of congenital hypothyroidism (CH). Autosomal recessive mutations in Pendrin (PDS/SCL26A4 ) were described in 1997 to cause Pendred syndrome [1]. However, over the years patients with either only heterozygous or even no mutation in PDS/SLC26A4 have been diag...

To read the full abstract: Hum Mol Genet. 2019, Jul 15; 28: 2319–29. doi: https://academic.oup.com/hmg/article/28/14/2319/5424416This study provides evidence that MYRF is important in the development of coelomic endothelial derived cells, and early gonadal development in both males and females. It combines detailed phenotypic assessment of patients and whole geno...

To read the full abstract: Hematol Oncol. 2019 Dec;37(5):609–616. mar26@mp.plAcute lymphoblastic leukaemia (ALL) is the most common childhood neoplasia with an actual survival rate >80%. ALL treatment has changed considerably during last 30 years; radiotherapy with 24 Gy to the central nervous system (CNS) has been eliminated or reduced to lower doses (12 or 18 Gy) and chemotherapy regimens are now tailo...