ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: J Clin Invest 2018;128:960-969Mouse models for PWS are urgently needed to facilitate drug development for treatment of hyperphagia and obesity in PWS patients. Here, the authors set out to create a mouse model that better recapitulates human PWS; they chose Snord116 as the target. Snord116 comprises a cluster of noncoding RNAs (ncRNAs) on paternal chromosome 15q11.2. Deletio...

To read the full abstract: Endocr Rev 2018;39:154-191This extensive paper reviews current state of knowledge concerning possible diagnostic accuracy of all available biomarkers used for molecular diagnostics and in nuclear medicine for investigation of thyroid nodules of indeterminate cytology....

To read the full abstract: J Clin Endocrinol Metab. 2018;103(4):1330-1341Glucocorticoids exert an inverted U-shaped influence on human cognition, particularly on acquiring and consolidating memory (25), whereas androgens have an overall beneficial effect on cognitive control, verbal memory, and spatial cognition in humans (26). Although previous studies in patients with CAH have con...

To read the full abstract: Diabetes Care. 2018;41:311-317Some researchers assume that the etiology of T1DM is distinct from that of Type 2 diabetes mellitus. T1DM is characterized by autoimmune phenomena leading to the destruction of pancreatic islets and most importantly of beta-cells. Genetic factors are thought to influence the likelihood of autoimmune phenomena developing into overt autoimmune di...

To read the full abstract: JAMA Pediatr. 2017;171:1176-1183Adolescence is certainly the most difficult age for reaching T1DM treatment and HbA1c goals. In this age group, most patients have deteriorated metabolic control, and higher risk for acute complications, such as severe hypoglycemia and DKA. Getting into therapeutic contact is very hard in this period of life for diabetes teams ...

To read the full abstract: Nature 2017, 542, 450–455Adipose tissue is no longer considered a passive energy store. Instead, it is well established as an important endocrine contributor. Here, the authors comprehensively show that the function of the adipose tissue as an endocrine organ is not limited to classical adipokines, but also includes miRNAs and maybe other non-coding RNAs. This study...

In Brief: The study established a novel rat model with a clinically relevant PLS3 mutation, which replicates the osteoporotic phenotype of early-onset PLS3-related osteoporosis. The findings suggest that treatment with alendronate or teriparatide improves bone mass and microarchitecture, suggesting their potential as effective treatments for early-onset osteoporosis caused by PLS3 mutations.Commentary: This study is an essentia...

In Brief: Current dogma is that lymphatic vessels are absent in bone and bone marrow. Using advanced 3D-imaging and mouse genetics, these authors show the presence of lymph vessels in bone. Moreover, they show that genotoxic stress causes lymph vessels expansion and lymphangiogenesis in bone, which in turn promotes bone and hematopoietic regeneration.Commentary: The lymphatic system maintains fluid homeostasis, removes cellular waste products and produce...

Brief summary: This prospective longitudinal study compared serum reproductive hormone levels and testicular volume around the onset of puberty between cryptorchid and healthy boys.Congenital cryptorchidism is the most common congenital anomaly among newborn boys, and still little is known about pubertal testicular function and serum reproductive hormone levels during puberty in this population.Pubertal follow-up with clinical exam...

Brief summary: In this experimental study, a transdermal polymeric microneedle (MN) patch for glucose-responsive closed-loop insulin and glucagon delivery was developed. In chemically-induced type 1 diabetes (T1D) mouse and minipig models, this glucose-responsive dual-hormone MN patch demonstrated tight regulation in blood glucose.The interplay between insulin and glucagon is essential for blood glucose regulation in individuals with or without diabetes....