ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: Eur J Endocrinol. 2018 Dec 1;179(6):373–380.This observational cohort study including children followed for central precocious puberty (CPP) in a single academic centre in Paris, France, identifies a large proportion of patients with complex disorders without structural hypothalamic lesions on MRI.Patients with CPP und...

To read the full abstract: N Engl J Med 2018;378:1987-1998FGF-23 is the primary regulator of phosphate homeostasis and acts by inhibiting phosphate reabsorption in the kidney (1). Loss-of-function mutations in the gene encoding phosphate-regulating endopeptidase homolog X-linked (PHEX) results in excess circulating FGF-23, which impairs renal phosphate reabsorption causing hypophosphatemia...

Brief summary: This ex vivo/ in vitro study describes a novel regulatory mechanism of androgen receptor (AR) gene transcription by intranuclear actin assembly in droplets upon dihydrotestosterone (DHT) stimulation mediated by DAAM2 (Dishevelled-associated activator of morphogenesis 2) gene.Androgen insensitivity syndrome (AIS) is a common etiology in individuals with 46, XY disorder/differences of sex development, AIS has diverse genita...

Brief summary: In this experimental study, pancreas-derived mesenchymal stem cells (PMSCs) were implanted into the kidney capsule of mice with streptozotocin (STZ)-induced diabetes. PMSCs led to increased levels of IL-6 in T-helper 1 and T-helper 17 cells, which transiently activated tumor necrosis factor-alpha (TNF-α) and interferon-gamma (IFN-γ), which in turn decreased levels of interleukin-17. This was associated with exocrine pancreas regeneration and rescue of ...

regis.coutant@chu-angers.fr J Clin Endocrinol Metab. 2022 Mar 24;107(4):e1568–e1576. doi: 10.1210/clinem/dgab845https://pubmed.ncbi.nlm.nih.gov/34918072/Brief Summary: This cross-sectional study describes how levels of Sertoli and Leydig cell hormones differ between 351 obese and overw...

To read the full abstract: J Clin Invest. 2020;130:1479–1490.This detailed genetic and molecular analysis of a three-generation family reveals a new form of autosomal dominant tumor susceptibility syndrome entitled familial multinodular goiter (MNG) with schwannomatosis. Biallelic alterations of the DGCR8 gene were found in all affected patients: First, all patients harbored the same heterozygous germline mutation p.E518K. Secondly...

Brief summary: This collaborative study identified 13 monoallelic rare loss-of-function (LoF) variants in the serotonin 2C receptor (HTR2C) gene in 19 unrelated individuals with hyperphagia, severe early-onset obesity, and some degree of maladaptive behaviour. The authors used exome sequencing in 2548 individuals with severe obesity and 1117 control individuals without obesity. They found that HTR2C variants cause monogenic obesity by demonstrating t...

Science 2021;372(6544): 808–814 doi: https://doi.org/10.1126/science.abf7958Isreali et al. describe the molecular structure of the melanocortin 4 receptor (MC4R) complexed with its effector G protein (Gs alpha) and setmelanotide, a pharmacological agonist of MC4R.MC4R is a known key element in body weight regulation, connecting response to leptin with inhibition o...

Sex Dev. 2021;15(4):244-252. PMID: 34293745, doi: 10.1159/000515924.Brief Summary: This genetic study provides data of a large cohort of 140 patients with DSD who were screened for DHX37 variants.DHX37 emerges as a frequent cause of nonsyndromic 46,XY gonadal dysgenesis, and 46,XY testicular regression syndrome. Since the first description of the gene (1), <...

To read the full abstract: N Engl J Med 2017;377:28-40We highlight this paper for 3 reasons. First, remarkably there are few robust data on effective treatment options for endometriosis. Subcutaneous GnRH antagonists are sometimes used off-label, but with very limited evidence. Secondly, the clear findings here confirm the pathogenesis of endometriosis as being driven by an over-act...