ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: Lancet 2017;390:1664-1675Whoever could have imagined that a compound discovered as being secreted by enteroendocrine cells in the gut could have a role in treating Parkinson’s disease? GLP-1 does indeed have diverse actions on several peripheral organs (including tongue, stomach, adipose tissues, muscle, pancreas and liver) and on the brainstem to regulate...

In Brief: These authors studied liver-specific SIRT2 knockout mice to examine how loss of hepatocyte SIRT2 (Sirtuin 2) prevents bone loss in aged mice. Hepatocyte SIRT2 deficiency led to upregulation of Leucine rich α2 glycoprotein (LRG1) in hepatocyte-derived small extracellular vesicles (sEVs) which inhibited osteoclastogenesis in bone marrow.Commentary: Liver-bone communication has been implicated in bone homeostasis. P...

Brief summary: This longitudinal observational multicentre retrospective study, collected data on 95 young prepubertal or early pubertal girls (age >10.9 years, Tanner stage ≤2) with premature ovarian failure (POI) or hypogonadotropic hypogonadism (HH). Their hypogonadism was due to different causes and was treated with transdermal 17β-oestradiol, with a follow-up of at least 1 year. The study aimed to identify the most physiological and effective therapeutic sc...

Brief summary: In this experimental study, pancreas-derived mesenchymal stem cells (PMSCs) were implanted into the kidney capsule of mice with streptozotocin (STZ)-induced diabetes. PMSCs led to increased levels of IL-6 in T-helper 1 and T-helper 17 cells, which transiently activated tumor necrosis factor-alpha (TNF-α) and interferon-gamma (IFN-γ), which in turn decreased levels of interleukin-17. This was associated with exocrine pancreas regeneration and rescue of ...

Brief Summary: This study identifies a reliable cut-off value for the glucagon stimulation test, which may be used as an alternative to the insulin tolerance test (ITT) in the diagnosis of growth hormone deficiency (GHD) in transition age.Many patients with childhood-onset growth hormone deficiency (GHD) show normal GH secretion when re-tested at the end of growth, especially those with isolated GHD and normal or small pituitary gland (1). ITT is recogni...

Brief Summary: This study identified a conserved enhancer element located 5’ of the mammalian SRY gene through comparative genomic analysis, which plays a crucial role in the regulation of sexual differentiation. NR5A1 binds to this element. The researchers discovered two distinct hemizygous base pair substitutions within this NR5A1 binding site, both of which involve highly conserved residues: one in a sporadic case of XY sex reversal and the other in a large fa...

J Clin Endocrinol Metab. 2020 Nov 1;105(11):dgaa563. doi: 10.1210/clinem/dgaa563. PMID: 32818257.This manuscript describes an unusual case of a baby born with a homozygous Nkx2.2 mutation who developed severe neonatal diabetes mellitus and then on follow up went onto develop severe obesity characterized by marked hyperphagia.Nkx2.2 is an important transcription factor...

Genes Dev. 2021;35(5–6):367–378. doi: 10.1101/gad.345686.120.The longstanding concept of thyroid hormone (TH) action is summarized as the canonical switch model. This study adds important aspects of TH action to our current understanding, modifying this longstanding switch model to a “shift” model.According to the current concept, TH dependent gene...

J Clin Endocrinol Metab. 2020 Oct 1;105(10):3243–3249 Abstract: https://pubmed.ncbi.nlm.nih.gov/32721016/In brief: X-linked hypophosphatemia (XLH) is the most common hereditary form of rickets and osteomalacia. The study used retrospective, pre-burosumab growth data from four different studies and constructed growth charts that demonstrate that the growth rate of children with...

Diabetologia. 2020;63(4):780–787. doi: 10.1007/s00125-019-05077-4.This multicenter multinational study, in children with high genetic risk of T1D, identified an association between lower serum 25-hydroxyvitamin D (25OHD) concentrations and subsequent appearance of islet autoimmunity or T1D.The Trial to Reduce IDDM in the Genetically at Risk (TRIGR) ancillary ...