ESPE Yearbook of Paediatric Endocrinology

Brief Summary: This translational study identifies a new susceptibility region within the estrogen receptor α ( ESR1 ) gene, linked to cryptorchidism (CO) and hypospadias (HS), the most common birth defects of the male genital tract. CO occurs in approximately 1:100 male births and is 3-times more common in premature infants, while HS affects about 1:300 male births. The prevalence of both conditions has increased over the years, with premature infants showing hi...

Brief summary: This paper reviews the associations between cellular iron, ferroptosis and diabetes. It also explores the therapeutic potential of ferroptosis inhibitors in the treatment of diabetic complications.Comment: Ferroptosis is a form of regulated cell death that is characterized by the decreased capacity of antioxidants and the accumulation of lipid reactive oxygen species (ROS).1 This, in turn, causes oxidative damage to cell membran...

Brief Summary: This study describes how the primary cilia of hypothalamic neurons bearing melanocortin-4 receptors (MC4R) progressively shorten with age, leading to reduced sensitivity to satiety signals, increased appetite, and obesity. This age-related ciliary shortening is exacerbated by chronic leptin-melanocortin signalling, but can be mitigated by dietary restriction or knockdown of ciliogenesis-associated kinase 1 (CILK1). These findings suggest potential therapeutic ap...

In Brief: The authors investigated intraperson variability in fasting glucose (FG) levels using continuous glucose monitoring (CGM) devices in 8315 nondiabetic adults aged 40–70 years. Day-to-day intraperson standard deviation of FG was 7.52 mg/dl (0.42 mol/l). This high variability has a large estimated impact on the classification of glycemic status (normal FG, prediabetes or diabetes). Of 5328 adults classified as having normal FG based on their Day 1 measurement, 40% ...

J Clin Endocrinol Metab. 2020 Dec 1;105(12):dgaa633. doi: 10.1210/clinem/dgaa633. PMID: 32898218.In this study, low risk pregnant women had an ‘early’ OGTT at 18-20 weeks of gestation and these results were correlated with the standard OGTT at 24-28 weeks. Pregnant women with Gestational diabetes mellitus (GDM) who had early OGTT still had a higher risk of delivering macrosomic in...

Nat Commun. 2020;11:4807. doi: 10.1038/s41467-020-18497-3.This interesting paper illustrates the potential of machine learning to improve the sensitivity and specificity of routine techniques in clinical practice if large cohorts for training and validation of models are used. Yu et al. present a transfer learning model (machine learning approach to solve research problems by r...

To read the full abstract: Cell Metab. 2019 4;29:1363–1375.Mesenchymal stem and/or stromal cells (MSCs) regulate immune system and have been associated with inflammatory and autoimmune diseases. The IGF system is mainly known for its role in the regulation of growth, development and metabolism. A possible role of IGF-I in inflammation has recently been proposed [1, 2], whereas the e...

In Brief: The authors use cell-tracing of Axin2-positive chondroprogenitor cells in the resting zone during and after food restriction to demonstrate that nutrient availability influences the balance between accumulation and differentiation of resting zone chondrocytes and that this is influenced by Igf-1.Commentary: Catch-up growth is the rapid growth that occurs after growth-inhibiting conditions have been cured or removed. The molecular mechanism for ...

Front Endocrinol (Lausanne). 2021 Jun 11;12:657873. doi: 10.3389/fendo.2021.657873. PMID: 34177802.Brief Summary: This is a single case report describing a possible new candidate gene (ADCY7) for congenital hyperinsulinism. Mutations in the ADCY7 gene may be a new cause of congenital hyperinsulinism but more cases are needed and the molecular mechanisms studied in more det...

To read the full abstract: J Bone Miner Res 2019;34(8):1387–1392.In brief: Cell tracing of the growth plate chondrocytes most adjacent to the perichondrium demonstrate that they transit into the metaphysis and contribute to the pool osteoblasts and reticular stromal cells of the bone marrow during growth in young mice.Commentary: Borderline chondrocytes are the growth plate chondrocytes located as a ...