ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: Endocrinology. 2017 Jul 1;158(7):2102-2112Gestational diabetes mellitus (GDM) produces fetal hyperglycemia with increased lifelong risks for the exposed offspring to cardiovascular and other diseases. In-utero exposure to GDM alters metabolic programming in newborns and their placenta, cord tissues, and cord blood. Human umbilical cord mesenchymal stromal cells (hUC-MSCs...

To read the full abstract: Development 2017;144:3879-3893Regenerative medicine techniques are being widely investigated for organs without regenerative capacity, such as lung. Whether pluripotent stem cell derived thyroid organoids will be used in the future as a regenerative medicine approach to treat hypothyroidism is unclear. In the context of an easily available, very cheap and non-in...

To read the full abstract: J Clin Invest 2018;128:1913-1918Two rare genetic forms of vitamin D–dependent rickets exist: VDDR-1 caused by mutations in the genes encoding either the renal 1-α hydroxylase (CYP27B1: VDDR-1A) or the hepatic 25-hydroxylase (CYP2R1: VDDR-1B) and VDDR-2 caused by mutations in the vitamin D receptor signalling due to mutations in the gene encoding the ...

To read the full abstract: J Clin Endocrinol Metab 2017 Nov 1;102(11):3869-3903This Endocrine Society endorsed paper is an update of the 2009 version, also published in JCEM, with clinical guidelines for endocrine management of patients with GD. The major focus is on adult patients but a large part is also focusing on children and adolescents with GD, contributed by co-authors with pediatric endo...

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: J Pediatr 2018;196:208-216.e2Insulin deficiency or resistance activates intracellular hormone-sensitive lipase; this increases the release of non-esterified fatty acids from triglycerides stored in centrally distributed adipose tissue. High circulating levels of non-esterified fatty acids increase hepatic triglyceride synthesis, which in turn increases secretion o...

To read the full abstract: Lancet 2018;391:1174-1185Non-alcoholic fatty liver disease is highly prevalent in overweight and obese children and adults. It progresses to steatohepatitis (with raised liver transaminase levels) and fibrosis, and eventually to cirrhosis. Detecting this, excluding other causes of liver disease, and monitoring its progress t...

To read the full abstract: Science 2017;357:1282-1287This Neanderthal boy died 49,000 years ago from an unknown cause at a dental age of 7.7 years. Most of his bones agreed with this estimation. The authors claim that his general pattern of growth was like that of modern humans, except that the atlas and mid-thoracic vertebrae matured later and remained at the 5-6-year stage of deve...

Brief summary: Exposure to endocrine disrupting chemicals may have adverse effects on humans. Tissue specific organoids are a helpful model to study organ specific impact of compounds alone or in combination, at different doses and during different stages of tissue development (1). While such organoid models have been developed for different tissues, such models were lacking to study differentiated thyroid follicles and thyroid tissue during development and differentiation.</p...

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...