hrp0086p2-p291 | Diabetes P2 | ESPE2016

The Story of a de novo Heterozygous HNF1A Mutation

Ponmani Caroline , Banerjee Kausik

Background: MODY is characterised by an early onset of diabetes and a positive family history of diabetes with an autosomal dominant mode of inheritance. We report a 15 year girl with a HNF1A mutation who presented with MODY without a positive family history.Objective and hypotheses: HNF1A-MODY is often misdiagnosed as type 1 or type 2 diabetes. Genetic confirmation of MODY in insulin-treated patients helps in making changes in the treatment modality as ...

hrp0092ha1 | Development of Testicular Organoids to Understand Disorders of Sex Development | ESPE2019

Development of Testicular Organoids to Understand Disorders of Sex Development

Eozenou Caroline , McElreavey Ken , Bashamboo Anu

Disorders of sex development (DSD) constitute an array of rare disorders affecting the genito-urinary tract and the endocrine-reproductive system and are often identified in the newborn or adolescent. Gene mutations causing DSD are slowly being identified using high-throughput sequencing, but the interpretation of the data and ascribing causality to novel variants is challenging. This is because DSD mutations occur in multiple genes with each gene affecting a small number of i...

hrp0084p3-1207 | Thyroid | ESPE2015

Neonatal Hyperthyrotropinaemia – Watchful Waiting vs Treatment: Experiences from a Tertiary Centre

Ponmani Caroline , Peters Catherine , Langham Shirley

Background: Neonatal hyperthyrotropinaemia (HT) is defined by elevated TSH and normal fT4. HT is an increasingly common diagnosis and may be transient or permanent. There is a often a diagnostic dilemma whether to treat to prevent subclincal hypothyroidism or to wait thereby avoiding the risks of iatrogenic hyperthyroidism.Objective and hypotheses: To examine a large population of infants referred to a tertiary centre over one year and determi...

hrp0095p1-412 | Adrenals and HPA Axis | ESPE2022

A single centre experience of aromatase inhibitors to limit bone age advancement in pre-pubertal boys with adrenal disorders causing androgen excess

Shaunak Meera , Zichichi Giulia , Peters Catherine , Brain Caroline , Dattani Mehul

Introduction: Anastrozole, an aromatase inhibitor, prevents the conversion of androgen to oestrogen, which is required for the adolescent growth spurt and the attainment of peak bone mass. Anastrozole may help minimise bone age (BA) advancement in conditions associated with adrenal androgen excess, such as congenital adrenal hyperplasia (CAH) and premature adrenarche.Objectives: 1. To describe baseline characteristics an...

hrp0095p1-312 | Growth and Syndromes | ESPE2022

Global Increlex® Registry, post-authorisation surveillance registry monitoring the long-term safety and effectiveness of mecasermin in children and adolescents with Severe Primary IGFD (SPIGFD): objectives and study design

Bang Peter , Mazain Sarah , Perrot Valérie , Sert Caroline

Background: Severe primary insulin-like growth factor-1 deficiency (SPIGFD) is a rare growth disorder characterised by severe short stature. Replacement therapy with recombinant human IGF-1 (rhIGF-1; mecasermin [Increlex®]) is currently the only available treatment for children/adolescents with SPIGFD. We describe the methodology of the Global Increlex Patient Registry (NCT00903110), designed to monitor long-term safety and effectiveness of meca...

hrp0092ha2 | Partial CRISPR/Cas9 IL1R1 & IFNGR1 Knock-Down Improves ß-Cell Survival and Function Under Cytokine-Induced Inflammation | ESPE2019

Partial CRISPR/Cas9 IL1R1 & IFNGR1 Knock-Down Improves β-cell Survival And Function Under Cytokine-Induced Inflammation

Daems Caroline , Vanderroost Juliette , Sokal Etienne , Lysy Philippe

Type 1 diabetes (T1D) is a chronic disease characterized by the autoimmune destruction of pancreatic β cells. This destruction is mediated by lymphocytes T helper and cytotoxic, and by the action of the pro-inflammatory cytokines IL1β, IFNγ and TNFa inside the islets of Langerhans. We propose a new approach to alleviate islet inflammation by targeting pro-inflammatory cytokine receptors. Our hypothesis is that the downregulation of inflammatory pathways ma...

hrp0089rfc15.4 | Growth and syndromes | ESPE2018

Characteristics, Effectiveness and Safety Data from Clinically Relevant Subgroups of Patients with Severeprimary IGF-I Deficiency (SPIGFD): Results from the European Increlex® Growth Forum Database (EU-IGFD) Registry

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

Background: The EU-IGFD registry was established to monitor the safety and effectiveness of recombinant human IGF-I (rhIGF-I) (mecasermin (rDNA origin) injection; Increlex®) for short stature in children with SPIGFD, including those with Laron syndrome (LS).Objective: To report patient characteristics, effectiveness and safety data in clinically relevant patient subgroups.Methods: Data were compiled from this ongoin...

hrp0089p1-p184 | Growth & Syndromes P1 | ESPE2018

Characteristics, Effectiveness and Safety Data for Patients with Growth Failure Treated with Recombinant IGF-I (rhIGF-I) and Achieving Adult or Near-adult Height (AH): Results from the European Increlex® Growth Forum Database (EU-IGFD) Registry

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

Background: The EU-IGFD registry comprises data for children with severe primary IGF-I deficiency (SPIGFD) receiving rhIGF-I (mecasermin [rDNA origin] injection; Increlex®) for growth failure.Objective: To report patient characteristics, effectiveness and safety data for children receiving rhIGF-I for SPIGFD and achieving AH.Methods: Patients from this ongoing observational study (NCT00903110) were included in analy...

hrp0089p2-p260 | Growth & Syndromes P2 | ESPE2018

An Irish Regional Study of Paediatric Growth Hormone Deficiency (CO-GHD): Classification of Causes and Factors Associated with Persistent GHD at Transition

Grace Mariana , Joyce Caroline , Morissey Rose , Moore Michael , O'Connell Susan

Childhood-onset growth hormone deficiency (CO-GHD) is topical at present due to the increasing understanding of underlying genetic aetiologies, influence on childhood growth, and future effects on adolescence and adult health. There is no previous Irish data of this group of children.Methods: A retrospective cohort study over 2 years (2013-2015) including all children diagnosed with GHD who received recombinant growth hormone treatment (rGH). Predictors ...

hrp0089p1-p222 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P1 | ESPE2018

A De Novo Missense Mutation in the 4th Zinc Finger of the WT1 Gene Causes 46,XY and 46,XX DSD in Two Sibs

Bertalan Rita , Gellen Balazs , Eozenou Caroline , McElreavey Kenneth , Bashamboo Anu

The WT1 gene has a crucial role in the genesis of the bipotential genital ridge and subsequently in the specification of the Sertoli cells of testis. Mutations involving the WT1 gene are associated with a wide range of phenotypes impacting testis-determination and development including Denys-Drash syndrome, Frasier syndrome and Meacham syndrome. Here, we describe two sibs with DSD carrying a de novo mutation in the WT1 gene. A girl was born with Prader IV intersex genitals. Cy...