ESPE Abstracts

Introduction: Resetting the epigenome in human primordial germ cells is critical for their development. It has been shown that a regulatory network established by SOX17 and PRDM1/BLIMP1 represses DNA methylation pathways and activates TET-mediated hydroxymethylation. (1) Testicular samples from high infertility risk (HIR) cryptorchid boys with defective mini-puberty and impaired differentiation of Ad spermatogonia display altered expression of genes encoding h...

Background: The pathogenesis of central precocious puberty (CPP) is complex, and exposure to environmental endocrine disruptors leading to CPP deserves attention. Poly- and perfluoroalkyl substances (PFASs) can interfere with sexual development, but there are few reports of their effects on sexual hormones and other hormones in CPP girls.Objective: To explore the levels of PFASs in CPP girls and healthy control girls age...

Background: Acquired hypothalamic dysfunction (HD) in children following suprasellar brain tumor treatment may be caused by the tumor or its treatment (neurosurgery, radiotherapy). Rapid weight gain, obesity and pituitary dysfunction are readily recognized as symptoms of HD, however HD knows other signs and symptoms such as hypothermia, adipsia and behavioral problems. In our clinical experience, signs and symptoms of HD may differ per tumor type and the treat...

Background and aim: Type 1 diabetes mellitus (T1D) is associated with other autoimmune diseases, often with a sex preference. The onset of the COVID-19 pandemic has led to reports on an increasing risk of autoimmune diseases. Our research aimed to investigate (concomitant) autoimmunity in children with T1D manifestation during the COVID-19 pandemic, considering gender and age, compared to pre-pandemic onset.Methods: We a...

Background: Cardiovascular disease (CVD) and premature death are major consequences for individuals with type 1 diabetes (T1DM). While diabetes mellitus is an independent risk factor for the development of CVD, excess risk is highly dependent on the presence or absence of additional CV risk factors such as obesity, dyslipidemia, arterial hypertension and smoking. The combination, or clustering of several risk factors exponentially increases CVD risk. Targeting...

Background: X-linked hypophosphatemia (XLH) is a rare genetic disorder caused by mutations in PHEX gene and characterized by low phosphate levels and impaired bone mineralization. Burosumab, a monoclonal antibody targeting fibroblast growth factor 23 (FGF23), has emerged as a crucial therapy for XLH management, increasing serum phosphate levels and improving bone health. Recent studies indicate that inflammation may play a crucial role in the XLH complications...