ESPE Yearbook of Paediatric Endocrinology

Brief Summary: This study identifies a novel cause for congenital adrenal hypoplasia and provides evidence that Wnt/β-catenin signaling plays an important role in the development of human adrenal cortex.Comment: Primary adrenal insufficiency (PAI) is a life-threatening condition characterized by the inability of the adrenal cortex to produce sufficient glucocorticoids and/or mineralocorticoids. The major cause of childhood-onset PAI is congenital ad...

Brief Summary: The European Association for the Study of Obesity (EASO) initiated this online Delphi study. They invited an expert panel of n=194 stakeholders, including policymakers, healthcare professionals, people living with obesity, and researchers from 30 countries to evaluate proposed statements on obesity to create a standardised language. Based on the understanding of obesity as an adiposity-based chronic disease, consensus was achieved on 54 statements categorized in...

In Brief: These authors investigated patients referred to the UK National Prion Clinic (NPC) for suspected prion diseases. They identified 8 individuals with a history of receiving treatment with cadaveric pituitary-derived growth hormone (c-hGH) and referred to, or reviewed by, the NPC between 2017 and 2022. None had a diagnosis of iatrogenic Creutzfeldt–Jakob disease (CJD) (on the basis of clinical presentation, neuroimaging and biomarkers and, in two cases, by postmort...

In Brief: The authors harness large-scale genetic and DNA methylation datasets in an epigenome-wide Mendelian randomization approach, to identify CpG sites that appear to be causally related to aging-related traits. These sites are collated to produce 2 epigenetic clocks: DamAge has adverse impacts on age-related outcomes, including mortality. AdaptAge appears to confer beneficial adaptations.Steve Horvath and others originally described various epigenet...

To read the full abstract: JCI Insight. 2018 Oct 18;3(20). pii: 99631.This paper describes a new form of goitrous congenital hypothyroidism associated with mutations in the solute carrier family 26 member 7 gene (SLC26A7) in 6 unrelated families. In patients, a partial iodide organification defect (PIOD) with normal iodide uptake was observed, hence these mutations cause a new f...

To read the full abstract: Science 2018;360:1087-1092During the Cardiovascular Risk Survey in western China, a Kazakh family with inherited low levels of LDL-C was identified. The Kazakhs are mainly descendent from the Turkic and medieval Mongol peoples, they live in isolated regions and usually marry within their own ethnic group. They exhibit often unique differences in single nucleotide vari...

Brief summary: This randomized, multicenter, controlled, phase II study compared the effects of high-dose (HD) once-weekly PEGylated-recombinant human growth hormone (PEG-rhGH) to low-dose (LD) and to an untreated control group of children with idiopathic short stature (ISS) over a period of 52 weeks. PEG-rhGH was effective in increasing height gain in a dose dependent manner with both doses being well tolerated during the observation period.PEG-rhGH is ...

Brief summary: Using in-depth multi-omics analyses of human type 1 diabetes (T1D) samples, the authors profiled gut microbial functional and metabolic alterations. The T1D microbiota showed decreased butyrate production and bile acid metabolism and increased lipopolysaccharide (LPS) biosynthesis. Fecal microbiota transplantation in animal models proved that T1D gut microflora is a causative factor in the regulation of glucose metabolism.The etiology of T...

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...

J Clin Invest. 2020 Dec 1;130(12):6338–6353. doi: 10.1172/JCI141455. PMID: 33164986.This manuscript describes a novel disorder due to homozygous mutations in the YIPF5 gene which cause a complex syndrome of neonatal/early onset diabetes mellitus, epilepsy and microcephaly. The underlying mechanism of the diabetes involves the accumulation of proinsulin (unable to be transported to the Golgi...