ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: Proc Natl Acad Sci U S A. 2019; 116(52): 26321-8. PMID: 31871146.The ‘mind–body connection’ is essential for normal organ function and is viewed as the basis for psychosomatic disorders. There is abundant evidence that shows how the mind or mental processes influence our health and well-being, as well as the negative impact of emotional stress on th...

To read the full abstract: Clin Endocrinol. 2019;91:110–117.Idiopathic short stature (ISS) refers to a heterogeneous population of children with a height more than 2 SDS below the mean for age, sex, and population, in presence of normal birth size and body proportions, and without evidence of any identifiable cause. The use of next generation sequencing (NGS) has shown that a high p...

J Clin Endocrinol Metab. 2020;105:dgaa415. doi: 10.1210/clinem/dgaa415.The optimal cut-off for neonatal screening has long been a matter of debate. The optimal balance between optimal detection of cases and increase of false positive patients is difficult to define. Also, in the most recent guidelines for congenital hypothyroidism (see previous paper in this chapter 3.7), no precise cut-off...

J Clin Endocrinol Metab, 2021. 106(11): p. 3184-3195. PMID: 34272849Brief Summary: This randomized, open-label, controlled, phase 3 trial compared the effects of once-weekly long-acting GH lonapegsomatropin versus daily GH in GHD children over a period of 52 weeks. Efficacy was evaluated by height velocity (HV) and height gain from baseline to end. The long-acting formulation showed not only non-inferiority but also superior efficacy compared to...

Sci Transl Med. 2021; 13(596): eabc0555. PMID: 34078742https://pubmed.ncbi.nlm.nih.gov/34078742/Brief Summary: These in vitro and in vivo studies show that the brain penetrant PPARγ agonist leriglitazone restores multiple biological pathways relevant for neuroinflammatory and neurodegenerative diseases, and particularly for X-linked adreno-leukodystrophy (X-AL...

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 ...

Abstract: Nature. 2019 Apr;568(7753):541–545.In brief: Murine knockout studies unravel the developmental origin of osteoclasts in embryonic, erythro-myeloid progenitors, acquiring exceptional longevity by constant fusion with monocytes and rejuvenation of cellular nucleii throughout postnatal life.Comment: Osteoclast function is essentia...

To read the full abstract: Bone Marrow Transplant. 2018 Oct; 53 (10):1278Early cardiovascular disease is relatively common among childhood cancer survivors (CCS). A high risk of accelerated atherosclerosis and a 8.2-fold higher cardiac mortality rate have been reported (1). Arterial stiffness, an independent risk factor for cardiovascular morbidity and mortality in adults, seems to incre...

To read the full abstract: J Clin Endocrinol Metab 2018; 103:917-925SGA is often defined as a birth weight and/or length < −2 SDS for gestational age and gender [43]. A frequent cause of SGA is fetal growth restriction (FGR), often associated with perinatal mortality and morbidity and also implicated in a higher risk of cardio-metabolic disease in adulthood. ...

Brief summary: This open-label extension trial enrolled all subjects completing the two previous phase 3 Lonapegsomatropin trials, heiGHt and fliGHt. The results confirm the efficacy of this LAGH formulation in improving height SDS, without major adverse events.Lonapegsomatropin is a long-acting GH consisting of 3 components: unmodified human GH (hGH), an inert glycol carrier, and a TransCon linker that transiently binds the other 2 components. The glyco...