ESPE Yearbook of Paediatric Endocrinology

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 ...

To read the full abstract: Pediatr Diabetes. 2018;19:749–755.Disordered eating behaviors (DEBs) may lead to full blown eating disorders and these might impair patients’ adherence to chronic disease management. Both type 1 diabetes mellitus (T1DM) and celiac disease (CD) are associated with DEBs. Adolescents with T1D and eating disorders have worse metabolic control and a higher...

To read the full abstract: Nature 567, 43–48 (2019)Cell engineering might be a way to reinstall insulin-production in the pancreas of people with autoimmune diabetes. This experimental mouse study achieved to switch human alpha cells to secrete insulin.Cell-identity switches, in which terminally differentiated cells are converted into different cell types, rep...

To read the full abstract: J Clin Endocrinol Metab 2018;103:1583-1591The Controlled Antenatal Thyroid Screening (CATS) study started in 2002 and was the first randomized controlled trial to evaluate the effect of screening and treatment of mild hypothyroidism during pregnancy on child cognition1. A large number of women (n=21,846) were recruited at a median ...

To read the full abstract: Front Endocrinol (Lausanne). 2018 Apr 4;9:142Here, Martinez de LaPiscina et.al. investigated gene-gene interactions in 46,XY DSD. GATA4 is known to be associated with 46,XY DSD and has also been described to cause congenital heart defects. The authors characterize 3 individuals with 46,XY DSD, and GATA4 variants; 1 patient with and 2 without congenital heart defects....

To read the full abstract: J Pediatr Gastroenterol Nutr. 2017;65:293-298Growth deceleration and impaired pubertal growth spurt are common concerns in patients with early onset inflammatory bowel disease (IBD) (1-2). Previous studies confirmed the efficacy and safety of infliximab, an anti-tumor necrosis factor alpha (TNF-α) antibody, in achieving clinical remission in luminal Crohn&#8...

To read the full abstract: Cell Metab. 2017, Volume 26, Issue 1 Riera et al. developed ways to temporarily eliminate the sense of smell in adult mice. They discovered that mice lacking smell could eat a high-fat diet and stay significantly thinner than littermates with a normal sense of smell. Conversely, mice with hyperosmia gained more weight than wild-type mice on a high-fat diet. ...

Brief summary: In recent years, generation of human organoids of different tissues from human embryonic stem cells have been realized, e.g. intestine, liver, and lung among others. In contrast, so far all attempts to generate fully mature and functional human thyroid follicular cells from stem cells was not successful. Romitti et al. present for the first time successful generation of transplantable and functional human thyroid organoids derived from human embryonic s...

Brief summary: This 12-months randomized, controlled, phase 3 study compared the efficacy and safety of once-weekly Somatrogon 0.66 mg/kg/week with once-daily somatropin in prepubertal children with GHD. The efficacy of once-weekly Somatrogon was noninferior to once-daily somatropin, with similar safety and tolerability profiles.Somatrogon (MOD-4023) is a long-acting rhGH recently approved by the European Medicines Agency for the treatment of children wi...

In Brief: This comprehensive review classifies the known high bone mass (HBM) disorders based on Gene Ontology (GO) nomenclature. The authors emphasize the importance of functional genomics in the discovery of new HBM genes and discuss strategies to improve understanding of the underlying pathogenic mechanisms and inform the development of therapeutic approaches.Commentary: HBM disorders are typically defined by a high areal bone marrow density (BMD) <em...