ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: Development 2018;145. pii:dev146829Branching morphogenesis is a key process during organogenesis of ductal and exocrine organs, e.g. lung, kidney, pancreas, and liver1. Regulatory components and local interactions for lung branching morphogenesis have been described in detail, mostly relying on receptor-ligand interactions between embryonic ...

To read the full abstract: J Pediatr 2018; 198: 260-264The incidence of T1DM in children <15 years is increasing at an overall annual relative rate of 3.9% (95% CI 3.6-4.2) [11]. The prevalence of GHD is estimated at approximately 1:4000 to 1:10000 [12-14]. Management of the very rare patients who have both T1DM and GHD raises questions of efficacy and safety of ...

To read the full abstract: J Psychosom Res. 2017 Oct;101:122-127The results of this study clearly show individuals with a DSD condition have psychological difficulties, and not only in countries with a less well developed health care systems, as reported by Khorashad et al. 2018. The findings indicate that having a DSD may impose a type of stress and vulnerability that is more common t...

To read the full abstract: J Clin Endocrinol Metab. 2017;102:4578-4587In chronic inflammatory diseases, inflammatory cytokines and exogenous glucocorticoid exposure affect growth through systemic effects on the GH–IGF-1 axis and local effects on the growth plates. Low plasma IGF-1 levels are related to systemic GH insufficiency or to hepatic GH resistance. Changes in IGF binding proteins ha...

To read the full abstract: Lancet Diabetes Endocrinol 2018; 6:69-80The prevalence of T2DM in youth is increasing dramatically worldwide, but the bulk of the increase is expected to take place in Africa, South East Asia and South America. Although genetic factors may seem to be the obvious reason for such geographical differences, a careful analysis of the existing literature suggests that...

Brief summary: This study further explores the sex differences in autoimmune regulation and the control of normal inflammatory responses, and also helps us understand why there are sex differences in the aetiology of autoimmune diseases such as systemic lupus erythematosus (SLE). It demonstrates the changes that occur in cisgender pubertal development on the T regulatory cell (Treg), B cell and monocyte population, and using samples from transgender adolescents undergoing GnRH...

Brief summary: This Iranian open label, quasi-experimental and matched controlled clinical trial included 59 girls with stage III–IV chronic kidney disease (CKD), short stature and delayed puberty. Patients were treated with GH (mean dose 0.05 mg/kg/day) and Ethinyl Estradiol (EE). Initial EE dose was 5 μg/day orally, doubled every 3–6 months to a maximum dose before growth plate closure 30 μg/day, and then increased gradually up to 500 μg/day. EE ther...

Brief summary: This single-centre retrospective study evaluated cortisol responses during febrile episodes in children with cancer. Low cortisol responses were common and were unrelated to current steroid therapy.Random serum cortisol and ACTH were measured in 75 children and adolescents with cancer while admitted for fever during chemotherapy; 47/75 patients received glucocorticoids as part of their treatment (steroid group). A low cortisol response (LC...

In Brief: The authors analysed data from the nationwide Child and Adolescent Twin Study in Sweden (CATSS) to estimate the heritability of avoidant restrictive food intake disorder (ARFID) as defined by DSM-5 criteria. Of the 16 951 twin pairs born between 1992 and 2010, 682 (2.0%) children were identified to have ARFID. By modelling shared risk in monozygous compared to dizygous twin pairs, they estimated the heritability of ARFID as 79% (95%CI, 70–85).<...

Nature 2021; 592: 80–85https://www.nature.com/articles/s41586-021-03345-1These authors performed whole-genome sequencing (WGS) of 86 bulk placental samples and of 106 microdissections of placental tissue in order to reconstruct the development of human placental cells from data on somatic mutations. They found that the placenta comprises of multiple very large, genetically dis...