hrp0084fc7.1 | Growth-promoting therapies | ESPE2015

Safety and Effectiveness of Increlex® Therapy in Children with Laron Syndrome and Enrolled in the European Increlex® Growth Forum Database in Europe

Bang Peter , Polak Michel , Woelfle Joachim , Houchard Aude , Sert Caroline

Background: The post-authorisation registry, European Increlex® Growth Forum Database (EU-IGFD), initiated in December 2008, collects data in children receiving Increlex (mecasermin (rDNA origin) injection) for growth failure, including Laron syndrome (LS) (severe primary IGF1 deficiency with confirmed GH-receptor mutation).Objective and hypotheses: Report safety and effectiveness data in children with LS.Method: Multicentre, ...

hrp0084p2-420 | GH & IGF | ESPE2015

Hypoglycaemic Adverse Events Reported in Children Enrolled in the European Increlex® Growth Forum Database in Europe (5-Year Interim Data)

Woelfle Joachim , Polak Michel , Bang Peter , Houchard Aude , Sert Caroline

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...

hrp0094p1-60 | Bone B | ESPE2021

Mosaic PHEX variants are important causes of X-linked hypophosphataemic rickets.

Prentice Philippa , Owens Martina , Brain Caroline , Allgrove Jeremy , Gevers Evelien ,

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...

hrp0094p2-289 | Growth and syndromes (to include Turner syndrome) | ESPE2021

Familial Mosaic Turner Syndrome with short stature and spontaneous puberty due to a ring X chromosome with distal Xp22.3 and distal Xq26 deletion

Lim Sharon , Brain Caroline , Lees Melissa , Gevers Evelien ,

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...

hrp0098p3-288 | Late Breaking | ESPE2024

Improving Diagnosis and Management for Type 1 Diabetes Mellitus (T1DM) among Children and Adolescents, through Introduction of First-ever T1DM Management Guidelines in Kenya

Wamalwa Phoebe , Kihoto Rosemary , Njiri Patricia , Mukui Antony , Cheruiyot Caroline

Introduction: Type 1 diabetes mellitus (T1DM) is a common endocrine disorder among children and adolescents worldwide. Reports indicate a rising trend of T1DM in the past decades. However, data on T1DM in Sub-Saharan Africa, particularly Kenya, is limited. It is estimated that 127,000 children live with T1DM in Kenya, but only 5,000 are on treatment. This project aims to improve early diagnosis and appropriate management of T1DM in children and adolescents thr...

hrp0095p1-313 | Growth and Syndromes | ESPE2022

Pathway to assess severe primary IGF-1 deficiency diagnosis in a real-life setting: data from the Global Increlex® Registry

Bang Peter , Polak Michel , Bossowski Artur , De Schepper Jean , Sert Caroline , Perrot Valérie , Woelfle Joachim

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...

hrp0092t9 | Top 20 Poster | ESPE2019

Empagliflozin and GABA Improve β-Cell Mass and Glucose Tolerance in New-Onset Type 1 Diabetes

Daems Caroline , Welsch Sophie , Boughaleb Hasnae , Vanderroost Juliette , Robert Annie , Sokal Etienne , Lysy Philippe

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...

hrp0092p1-127 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

Mutations in CBX2 Associated with Gonadal Anomalies in 46,XY and 46,XX Individuals

Merel Tiphanie , Eozenou Caroline , Van Maldergem Lionel , Globa Evgenia , McElreavey Ken , Bashamboo Anu

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 ...

hrp0092p1-212 | GH and IGFs (1) | ESPE2019

Hypoglycaemia Adverse Events in SPIGFD: Association with Patient Diagnosis, Age, Time-Course and Dosage of Mecasermin: 10-year Data from the European Increlex® Growth Forum Database in Europe (EU-IGFD)

Woelfle Joachim , Polak Michel , Bang Peter , Perrot Valérie , Sert Caroline

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....

hrp0092p1-214 | GH and IGFs (1) | ESPE2019

The European Increlex® Growth Forum Database (EU-IGFD) Registry: Do Treatment Practices Differ Between European Countries?

Bang Peter , Polak Michel , Woelfle Joachim , Perrot Valérie , Sert Caroline

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...