ESPE Abstracts

Background: The post-authorisation registry, European Increlex® (mecasermin (rDNA origin) injection) Growth European Increlex Growth Forum Database (EU-IGFD), initiated in December 2008, collects safety and efficacy data in children receiving Increlex® for growth failure. Hypoglycaemia has been reported as a common adverse event (AE) during any IGF1 replacement therapy in randomised clinical trials, and is therefore of interest in real-life sett...

Introduction: X-linked hypophosphataemic rickets (XLH), due to mutations in the PHEX (Phosphate-regulating Endopeptidase homolog; X-linked) gene, causes reduced bone and dentin mineralisation and decreased renal phosphate reabsorption. Mosaic PHEX mutations are reported only in a few case reports.We report three male cases, with mosaic pathogenic PHEX variants, showing importance of considering this in the diagnosis of XLH.Case 1 pre...

Abnormal phenotypes in patients with ring chromosome X can be ascribed to failed or partial X inactivation due to loss of XIST on Xq13. We describe a mother and 1 daughter with the same mosaic karyotype, and another daughter with 45, X. KZ, 12 years old and recently moved from Poland, was investigated for short stature (Ht SDS -2.1), her mother was 142.9 cm, father 176.1cm. Both were healthy and not dysmorphic. Birth weight at 37 weeks was 2.63kg (20th centile Polis...

Background: Severe primary insulin-like growth factor-1 deficiency (SPIGFD) is a rare condition for which replacement therapy with recombinant human insulin-like growth factor-1 (rhIGF 1; mecasermin [Increlex®]) is approved for treatment in Europe and the USA. SPIGFD is defined as a height standard deviation score (HtSDS) ≤-3, and baseline IGF-1 <2.5th percentile (European indication) or ≤-3 SDS (USA indication) for age and gender, desp...

Presently, the autoimmune character of T1D is challenged, but it is indisputable that inflammation plays a key role in its development. We hypothesized that glucotoxicity could contribute to β-cell mass destruction through maintenance of inflammation. Here, we aimed to evaluate, after diabetes onset, the potential of empagliflozin (EMPA) to protect β-cell mass against glucotoxicity, in monotherapy or in association with GABA, tested for its potential to increas...

The Polycomb Repressive Complex 1 (PRC1) represses gene expression through CBX2, which binds to H3K27me3 and promotes chromatin expression. Recently, CBX2 has been shown to function in testis-formation by directly repressing Wnt4's downstream target, Lef1, in Sertoli cells rather than positively controlling Sry expression, as previously thought. Here, we describe two new cases carrying missense mutations in CBX2. The first is a female with 46,XY ...

Background: In Europe, Increlex® (mecasermin) is approved for treatment of growth failure in children with severe primary insulin-like growth factor-1 deficiency (SPIGFD). We present 10-year data (up to October 2018) from the European Increlex® Growth Forum Database (EU-IGFD) registry (NCT00903110) on the frequency, predictive factors, and the potential impact of hypoglycaemia on efficacy outcomes....

Background: In the European Union, Increlex® (mecasermin) is approved for the treatment of growth failure in children with severe primary insulin-like growth factor-1 deficiency (SPIGFD).Methods: The European Increlex® Growth Forum Database (EU-IGFD) registry (NCT00903110) is an ongoing, multicentre, open-label, observational study monitoring the safety and efficacy of mecasermin in childr...

Background: Hypophosphatemic rickets (HHR) is a vitamin D-resistant rickets and results in children in variable degrees of delayed walking, waddling gait, leg bowing, enlarged cartilages, bone pain, craniostenosis and growth failure. There are both inherited and acquired forms, where FGF23-dependent forms with X-linked dominant hypophosphatemic rickets (XLH) head of the list is the most prevalent genetic form; molecular defects of the sodium-phosphate co-trans...

Objective: Young women with Turner syndrome are known to be especially at risk for lost of follow-up. Recent literature indicates that there are disparities regarding transition readiness between different chronic conditions. To assess differences in transition readiness might be crucial for identifying special needs in specific patient cohorts when preparing for transfer to adult care. Our hypothesis was, that young women with Turner syndrome would score lowe...