ESPE Yearbook of Paediatric Endocrinology

Brief summary: This retrospective longitudinal study included 5698 patients with multiple height measurements since birth to the near-adult age. The aim was to define different growth patterns of children from birth to 18 years corrected for gestational age, sex and auxological status at birth in order to early identify children at risk for adult short stature. Adult height was significantly reduced in preterm and/or in small-for-gestational-age (SGA) children, with no sex dif...

In Brief: Hypophosphatasia is a clinically heterogenous disorder. By analysing observational data on 215 children (54.4% girls) with hypophosphatasia from the Global Hypophosphatasia Registry, the authors found growth impairment in patients aged <2 years. However, short stature was not a characteristic feature of children with hypophosphatasia, and height was not correlated with disease severity.Commentary: Hypophosphatasia is an inborn error of meta...

Brief summary: This study used a Delphi approach to generate consensus guidelines for screening of asymptomatic childhood cancer survivors for thyroid dysfunction and recommendations for the management of abnormal thyroid screening results.A Delphi panel of 40 clinical experts (oncologists, endocrinologists, and primary care physicians) participated in three rounds of anonymous questionnaires, formatted as clinical scenarios. Consensus was defined by agr...

Short summary: This study describes sex differences in fetal liver-specific androgen signalling that are altered in response to maternal obesity in baboons. It reveals that livers of male fetuses favour a pro-androgenic environment in response to maternal obesity by suppressing the activity of testosterone-metabolising CYP enzymes (CYP2B6 and CYP3A) and by reducing cytoplasmic and nuclear androgen receptor (AR-45) expression. By comparison and most interestingly, there were mi...

Brief summary: In this experimental study, genome editing and in vitro pancreatic differentiation of human pluripotent stem cells (SC) were used to generate ZNT8 loss-of-function (LOF) SC-β-cells. These cells showed accelerated functional maturation, increased insulin secretion and improved resistance to metabolic stress. Transplantation of ZnT8 LOF SC-β-cells into mice with preexisting diabetes significantly improved their glucose levels.<...

Nat Commun. 2020 Aug 13;11(1):4063. doi: 10.1038/s41467-020-17890-2. PMID: 32792525.These researchers proposed the heterogeneity of hypothalamic neural progenitor cells. Other than traditional hypothalamic radial glial (hRG) cells, which are predominantly located in the ventricular zone, there are additional basal progenitors in the mantle zone, which are named as hypothalamic mantle zo...

Front Endocrinol (Lausanne). 2020 Oct 27;11:545638. doi: 10.3389/fendo.2020.545638. PMID: 33193079.Using human islets from CHI patients and islets from ABCC8 (SUR1) knockout mice, the authors tested several novel compounds to inhibit insulin over-secretion. These novel compounds targeted KATP channels as well as KATP indepe...

Current Biology 2021 May 17;S0960-9822(21)00614-X. doi: https://doi.org/10.1016/j.cub.2021.04.067The North Atlantic right whale (Narwhale, NARW) is a medium-sized toothed whale that lives year-round in the Arctic waters around Greenland, Canada, and Russia. It possesses a large ‘tusk’ from a protruding canine tooth. NARW born in recent years have experienced stunted growth, and...

Cell Stem Cell. 2021 Sep 2;28(9):1657-1670.e10. doi: 10.1016/j.stem.2021.04.006. PMID: 33961804.Brief Summary: The authors established a novel protocol to generate hypothalamic arcuate organoids from human induced pluripotent stem cells, which could be utilized to investigate the arcuate nuclei development and the underlying mechanism of arcuate nucleus-related diseases. <p class="abst...

Epigenomics. 2021 Aug;13(15):1221-1230. doi: 10.2217/epi-2021-0096. PMID: 34337972.Brief Summary: This case cohort study assessed whether epigenetic factors explain the link between gestational diabetes mellitus (GDM) and macrosomia. Epigenetic changes in the MEST gene were associated with both GDM and macrosomia.GDM leads to neonatal macrosomia and in the long-t...