ESPE Yearbook of Paediatric Endocrinology

rakeshkgyl@gmail.com J Pediatr Hematol Oncol. 2022; 44: e469-e473. PMID: 34054040.Brief Summary: This monocentric, retrospective study investigated adrenal insufficiency (AI) prevalence in a large group of children with brain tumors (BT, 398 patients) and children treated with hematopoietic cell transplantation (HCT, 268 patients). AI was diagnosed in 14 BT patients (27.4% of the 51 tested) and 14 HCT re...

randi.lykke-sylvest@regionh.dk Human Reproduction, Vol.36, No.9, pp. 2576–2586, 2021. PMID: 34166497.Brief Summary: This Danish register-based cohort study investigated the rate of fatherhood among 9,353 men diagnosed with cancer during childhood or early adulthood (CSs), compared with 1,386,493 age-matched males without cancer. CSs became fathers slightly less frequently than controls (36...

kathrin.landgraf@medizin.uni-leipzig.de JCEM 2022; 107(2): e836–e851https://pubmed.ncbi.nlm.nih.gov/34448000Brief Summary: This study investigated the association of the novel adipose-derived stem cell (ASC) markers Mesenchymal Stem cell Antigen 1 (MSCA1) and CD36 with adipose tissue function in samples collected from children...

julia.vonoettingen@mcgill.ca Can J Diabetes 2022: 46; 32e39. doi: 10.1016/j.jcjd.2021.04.010Brief Summary: This validation study and survey showed that the Diabetes Quality of Life for Youth (DQOLY) questionnaire and the EuroQol Visual Analogue Scale (EQ-VAS) are valid measures of Health-Related Quality of Life in Haitian youth with type 1 ...

Eur J Endocrinol 2021;185:K7–K11 doi: 10.1530/EJE-21-0312Brief Summary: Steroid profiling of 10 placentas of healthy full-term neonates (five male and five female) using liquid chromatography-tandem mass spectrometry revealed the presence of C11-oxy C19 steroids (androgens) in the fetal-placental unit at term – pointing to alternative androgen pathways in this unit.<p cla...

To read the full abstract: PLoS Genet. 2020;16:e1008770.Præstholm et al. quantified by a genomics approach histone H3 acetylation – an epigenetic mark for DNase accessible chromatin – at thyroid hormone target gene enhancers to challenge the current model of genome binding action of T3 (type 1 action of thyroid hormone receptors (TR)) [1]. For this, they investigated genome-wide the liver of WT mice at hypothyroid and hyp...

To read the full abstract: J Clin Invest. 2020;130:1479–1490.This detailed genetic and molecular analysis of a three-generation family reveals a new form of autosomal dominant tumor susceptibility syndrome entitled familial multinodular goiter (MNG) with schwannomatosis. Biallelic alterations of the DGCR8 gene were found in all affected patients: First, all patients harbored the same heterozygous germline mutation p.E518K. Secondly...

To read the full abstract: J Clin Endocrinol Metab. 2020;105:e774–e7781.This prospective non-randomized clinical trial investigated the effect of two-years levothyroxine treatment in children with subclinical hypothyroidism (TSH 5.0–9.9 mU/l with normal FT4 for two years preceding the study) starting at a mean age of 9 years. Capalbo et al. observed no change in IQ scores in 20 children after two-years of levothyroxine. Furthe...

To read the full abstract: J Nutr. 2020 Jun1;150(6):1405–1412.There is increasing evidence that dairy milk positively affects linear growth, weight and body composition in children, particularly in low- and middle-income countries (1)(2). This effect of milk on growth has been proposed to be mediated by IGF-I (2), (3). The aim of this double-blinded, controlled trial was to evaluate the effect of milk supplements on circulating IGF-I and to...

To read the full abstract: J Bone Miner Res. 2020 Apr 24. doi: https://pubmed.ncbi.nlm.nih.gov/32329913/In brief: Hematopoietic stem cell transplantation remains the only curative treatment in children with severe osteopetrosis. According to this study, increased serum calcium and phosphate serve as good markers of successful engraftment, which leads to significant but incomplete n...