ESPE Yearbook of Paediatric Endocrinology

Brief summary: This article shows that intra-cerebroventricular injections of a recombinant adeno-associated virus expressing MKRN3 resulted in delayed puberty in female mice.MKRN3 loss-of-function mutation is the most frequent cause of familial central precocious puberty (CPP) (1).These authors investigated the effect of MKRN3 overexpression on pubertal timing, by generating a mouse model of neonatal hypothalamic Mkrn3 ov...

Brief summary: This single-centre retrospective study evaluated cortisol responses during febrile episodes in children with cancer. Low cortisol responses were common and were unrelated to current steroid therapy.Random serum cortisol and ACTH were measured in 75 children and adolescents with cancer while admitted for fever during chemotherapy; 47/75 patients received glucocorticoids as part of their treatment (steroid group). A low cortisol response (LC...

Brief summary: In this meta-analysis, data of 2030 patients with idiopathic growth hormone deficiency (IGHD) extracted from 25 studies were reanalyzed for reversal of GHD on GH retesting. The reversibility of IGHD varied depending on GH retest cut-offs and testing time-point/age. Higher GH cut-offs and earlier testing resulted in lower GHD reversal rate, but even with a cut-off of 7.7–10 ng/mL the reversal rate was 55%, and retesting before final height revealed also a re...

Brief Summary:This study used single-cell RNA-seq and murine transgenic models combined with elegant cell lineage tracing to characterise the gene expression profiles and trajectories of pituitary thyrotropes. It identifies a novel population of pituitary thyrotropes that co-express Nr5a1 (Sf1) and Pouf1 (Pit1) and a novel developmental trajectory for a subpopulation of Nr5a1-derived thyrotropes.Classical studies on pituitary cell lineages and cell diffe...

Brief Summary: This study identifies the role of the Dlk1 gene dosage in controlling the size of the pituitary gland. Dlk1 is an imprinted gene—expression is based on parental origin—which plays a critical role in determining pituitary gland size.The authors investigated how varying the dosage of Dlk1 affects pituitary size using genetically modified mice. Elegantly both, loss-of-function and overexpression of Dlk...

Brief Summary: This study examined the role of the melanocortin 3 receptor ( MC3R ) gene in regulating body weight, height, and puberty timing. It found an association between various non-synonymous variants (NSVs) in the MC3R gene with energy homeostasis and puberty.Melanocortin 3 receptor (MC3R) is a G protein-coupled receptor involved in the hypothalamic system that regulates energy homeostasis, growth and puberty (1,2). Recent studi...

Brief Summary: This clinical cross-sectional study provides new data on the neurodevelopmental aspects of Klinefelter syndrome (KS). It investigated the brain activation patterns in 43 adolescent males with KS (mean age 12.3±2.3 years) compared to an age-matched typically-developing (n=41) control group during the go/no-go task, an executive function assessment. Behavioral assessment tests, and functional magnetic resonance imaging (fMRI) were used....

Brief Summary: The Diabetes Virus Detection (DiViD) Intervention phase 2, placebo-controlled, double-blind trial randomized 96 children and adolescents (age 6-15 years) with new-onset type 1 diabetes (T1D) to receive either the antivirals, Pleconaril and Ribavirin, (n=47) or placebo (n=49) for 6 months. The antiviral treatment improved β-cell function at 12 months, and it was well tolerated and safe.Viral infections, particularly enteroviruses, have...

Brief Summary: This is the first International Consensus Guidance on the monitoring of children, adolescents and adults with early-stage (pre-symptomatic) Type 1 Diabetes (T1D), defined as those individuals positive for islet autoantibodies and with either normoglycemia or dysglycemia.With the progressive increase in screening programs for T1D around the world, there is a growing number of individuals identified with early-stages pre-symptomatic T1D (1)....

Brief Summary: This register-based cohort study compared the familial aggregation and heritability of childhood-onset (≤18 years) vs. adult-onset (19-30 years) type 1 diabetes (T1D), using data collected from over 2.9 million individuals born in Sweden between 1982-2010, and from their relatives. Adult-onset T1D showed weaker familial aggregation and lower heritability than childhood-onset T1D.Although T1D is considered a typical childhood...