ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: Endocrinology. 2019 Aug 1;160(8):1907–1925. PMID: 31237608Gestational diabetes (GDM) is associated with impaired beta-cell function in the offspring and this leads to increased risk of type 2 diabetes mellitus (1). However, the underlying mechanisms are not well understood. GDM exposure may alter islet gene expression and function in the fetus. Impai...

To read the full abstract: Proc Natl Acad Sci U S A. 2019; 116(44): 22294-22299. PMID: 31611378.Androgen biosynthesis in the human fetus proceeds through the adrenal sex steroid precursor dehydroepiandrosterone (DHEA), which is converted to testosterone in the gonads, followed by further activation to 5α-dihydrotestosterone (DHT) in genital skin, thereby facilitating male external genit...

To read the full abstract: Eur J Pediatr 2017; 176:873-879Achondroplasia (ACH) is the most common genetic form of disproportionate short stature, occurring in 1:15,000 –1:40,000 live births [28]. Most patients have a gain of function mutation in the transmembrane domain of the fibroblast growth factor receptor 3 (FGFR3), leading to prolonged intracellular MAPK signalin...

Brief summary: Neonates of mothers suffering from Graves’ Disease during pregnancy are at risk for hyper- or hypothyroidism postnatally. The risk for hypothyroidism of neonates exposed to maternal anti-thyroid drugs until birth is unknown. This large retrospective study aimed at investigating 1) the incidence of hypothyroid neonates in a large cohort of mothers treated with anti-thyroid drugs until birth, and 2) identify a cutoff for maternal anti-thyroid drug doses assoc...

Brief summary: Over the last decades changing incidences for autoimmune diseases have been observed. However, no data are available so far on long-term trends, incidence over the whole age spectrum (child, adults, geriatric patients), and incidence of co-occurrence of the different autoimmune diseases. The presented study provides an extensive population-based cohort study performed in the UK.The authors used electronic health care records of 22 million ...

Clin Endocrinol (Oxf). 2021 Feb;94(2):269–276. doi: 10.1111/cen.14353. PMID: 33098093.Every clinician encounters sometimes tricky incidentalomas, i.e., non-symptom-related imaging findings that are a consequence of increased availability and resolution of radiologic imaging.This study evaluated pediatric pituitary incidentalomas (PIs). Pituitary microadenomas...

Mol Cell Endocrinol. 2021 May 1;527:111218. doi: 10.1016/j.mce.2021.111218. PMID: 33636254This study used a high fat and high sucrose diet to generate obese mice. The offspring of these mice showed activation of the unfolding protein response and the heat-shock response in the hypothalamus as early as weaning. This was associated with malformed paraventricular nucleus axonal projections ...

Hum Mol Genet. 2020 Dec 18;29(20): 3443–3450.https://pubmed.ncbi.nlm.nih.gov/33089319/The authors performed an experimental study in Kiss1 knock-out mice, followed by an observational study of patients with adrenal tumors. The findings indicate that KISS1/KISS1R signaling may be involved in obesity, metabolic disorders and even gonadal steroid hormone perturbations.<p class="abstex...

J Clin Endocrinol Metab. 2020 Jul 1;105(7):dgaa247. 10.1210/clinem/dgaa247. https://pubmed.ncbi.nlm.nih.gov/32407531/Based on a structured summary of a case series of 43 well-defined patients, these authors propose for regular screening and preventive examinations in ROHHAD patients and list the therapeutic options. Although these recommendat...

Nat Med. 2020 Sep;26(9):1375–1379. doi: 10.1038/s41591-020-1007-0. PMID: 32778826.In brief: A subtype of autism arising from a cluster of genes that regulate both cholesterol metabolism and brain development was identified by integrating multiple data modalities.Comment: Autism spectrum disorder (ASD) is now estimated to affect 1:54 children ...