ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: Am J Med Genet A. 2019 Apr;179(4):542–551.This study describes 7 individuals with hyperinsulinemic hypoglycemia caused by NSD1 gene mutations with 3 having persistent hyperinsulinemic hypoglycemia.The underlying mechanisms that lead to hyperinsulinaemic hypoglycemia in Sotos syndrome are not known. Since most of the previous...

To read the full abstract: J Clin Invest. 2020;130(5):2209–2219. doi: https://pubmed.ncbi.nlm.nih.gov/31961826/This clinical study addressed the chronic effects of the β3-adrenergic receptor agonist mirabegron on BAT activity, blood parameters, and insulin sensitivity in a small cohort of healthy women (n =14). Participants were treated for 4 weeks orally with mirabegron ...

Front Endocrinol (Lausanne). 2020; 11: 558897. https://pubmed.ncbi.nlm.nih.gov/33042019/This patient cohort study evaluated the prevalence of autoimmune thyroid diseases (AITDs), defined as decreased thyroid echogenicity in 61 children with Crohn’s disease, 25 infliximab (IFX)-naïve (control group) and 36 IFX-treated patients (mean duration of IFX therapy 13.9±16.6 months). T...

J Clin Endocrinol Metab. 2021 Nov 19;106(12):e5075-e5087. doi: 10.1210/clinem/dgab528. PMID: 34272865.Brief Summary: This national birth registry study in Denmark collected data on gestational diabetes and adverse pregnancy outcomes in relation to country of origin of the mother. Country of origin and the number of births were associated with adverse effects from gestational diabetes.<p cl...

To read the full abstract: Eur J Endocrinol. 2019 Oct;181(4):R155–R171. doi: 10.1530/EJE-19-0298. PMID: 31370006.Transition is described as the planned process of transferring care from pediatric to adult healthcare services. Recent recommendations by various medical associations underline that preparation of adolescents and their parents, consideration of the adolescent’s developmen...

To read the full abstract: Diabetes Care. 2020;43(2):405–410. doi: https://pubmed.ncbi.nlm.nih.gov/31727688/Here, Gawlik et al. describe the urinary steroid metabolomic profile associated with insulin resistance (IR) as assessed in a cohort of 87 non-syndromic obese children and adolescents.To explore the previously defined novel concept of a disease-spe...

To read the full abstract: Genome Biol. 2018 Jul 9;19(1):85Analyzing 759 plant, fungal and animal genomes, this article describes multiple possible horizontal gene transfer events in bat and frog, finding new parasite vectors of transfer such as bed bug, leech and locust.Junk DNA sequences that can multiply and change their position wi...

Prof Hochberg was an exceptional paediatrician, endocrinologist and paediatric endocrinologist. He had an inquisitive mind, interest in various and wide fields, love for music, operas, books and people. Even in the field of endocrinology, he always researched beyond the visible. His groundbreaking contributions to the field of paediatric endocrinology have left an indelible mark on the medical community.Comment: To distinguish among chil...

Circulation, 2022: Jun 21;145(25):1853-1866 PMID: 35616058Brief Summary: This translational study evaluated cardiac health and lifespan in two cardiomyocyte-specific transgenic mice with either enhanced or reduced IGF-1 signaling and in human cardiac biopsies from failing and nonfailing hearts. Increased IGF1R expression was related to better cardiac performance in young mice but faster decline of cardiac function with aging. Conversely reduced ...

To read the full abstract: Proc Natl Acad Sci U S A. 2020; 117(4): 2187–2193. PMID: 31932420.Since their discovery ~70 years ago, glucocorticoids (GC) have been widely used to elicit a systemic anti-inflammatory response, and currently play a major role in the treatment of asthma and other inflammatory diseases (1). However, unresponsiveness to GC in some individuals i...