hrp0097ee1.1 | Section | ESPE2023

Solidarity and justice in the Dutch Coverage Lock Policy for Expensive Medicines - public Opinions and Stakeholder Perspectives

van Thiel Ghislaine , Scheijmans Féline , van der Pol Willem , van Delden Johannes , Zomers Margot , van der Graaf Rieke , Fadaei Sina , Onrust Marthe , van der Wal Roosmarijn

Background: Solidarity-based healthcare systems face significant challenges due to the rising costs of new and highly expensive medicines for cancer and rare diseases. The Dutch government introduced the Coverage Lock (CL) policy in 2015 to restrict access to reimbursement for such drugs. The CL has raised controversy around its ethical acceptability. Some claim the CL is necessary to secure solidarity while others have pointed out that its leads to unfair ine...

hrp0095p1-353 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

A novel missense variant in the gene encoding Fatty Acid Synthase (FASN) associated with a unique multi-system disorder including hypopituitarism and hypoparathyroidism

Gregory Louise , Eaton Simon , Krywawych Stephen , Rahman Shamima , Dattani Mehul

Whole exome sequencing performed on a male patient with a unique complex phenotype revealed a novel de novo missense variant in FASN (c.6395C>T, p.A2132V), encoding Fatty Acid Synthase. The patient presented with panhypopituitarism (GH, TSH, LH, FSH and ACTH deficiencies), short stature, sensorineural deafness, hypoparathyroidism, retinal dystrophy, and developmental delay. He was 127 cm tall at the age of 21 and failed to respond to GH treatment [IGF-1 ge...

hrp0095p2-102 | Fat, Metabolism and Obesity | ESPE2022

Long term effect of metformin therapy in children and young people with obesity - A single center experience

Suntharesan Jananie , Pickles Rosanna , John Reed , Apperley Louise , Senniappan Senthil

Introduction: The prevalence of childhood obesity is increasing worldwide, and the management remains a challenge. The mainstay of management is lifestyle modification but if this is not successful, pharmacological agents are considered although the options in children and young people are quite limited. Metformin has been used as an adjunct therapy alongside lifestyle modification in children and young people with obesity. Some studies have shown it to be eff...

hrp0092fc11.1 | Pituitary, Neuroendocrinology and Puberty Session 2 | ESPE2019

Phenotypic Characterization of a Large Pediatric Cohort of Patients with Genetic Forms of Congenital Hypopituitarism

Cionna Cecilia , Cerbone Manuela , Gregory Louise C , Dattani Mehul T

Background: Genetic variants are identified in a small proportion (~10%) of patients with Congenital Hypopituitarism (CH), with variable associated phenotypes. We aimed to phenotypically characterise a large cohort of patients with genetically proven CH.Patients and methods: 1684 CH patients were screened (Sanger or whole exome sequencing) over a 20-year period (1998-2018) for mutations in genes regulating pitui...

hrp0092p1-314 | Diabetes and Insulin (2) | ESPE2019

Comparison Between Patients and Families who Routinely Download Data and Those who do Not Download Data at Home in The Management of Type 1 Diabetes

Ng Sze May , Sultana Perveen , Clemente Marisa , Apperley Louise

Background: In type 1 diabetes (T1D), optimal glycaemic control requires intensive self-management to reduce the risk of complications. While routine downloading and review of blood glucose data is part of clinical practice of healthcare providers in an outpatient setting, patients and families are also educated, advised and encouraged to regularly download and review blood glucose data at home in order to make adjustments to insulin dosing for carbohydrate in...

hrp0089p1-p071 | Diabetes & Insulin P1 | ESPE2018

Review and Audit of Diabetes Control in Children and Young People with Diabetes Using the FreestyleLibre Flash Glucose Scanning System (FGS)

Zahid Aisha , Sachdev Pooja , Denvir Louise , Randell Tabitha , Drew Josephine

Background: The Freestyle Libre Flash Glucose Scanning System (FGS) is a glucose sensing technology device for people with diabetes to monitor plasma glucose levels, reducing the need for routine fingerpricks. The device is worn on the upper arm and produces graphs displaying glucose levels over a period of time. Trials of the Freestyle Libre device have been utilised at Nottingham Children’s Hospital (NCH), providing the device is used safely. Potential for most benefit ...

hrp0086p2-p59 | Adrenal P2 | ESPE2016

Hospitalisation in Children with Adrenal Insufficiency and Hypopituitarism: Is there a Differential Burden Between Boys and Girls and Between Age Groups?

Rushworth R. Louise , Chrisp Georgina , Falhammar Henrik , Torpy David

Background: There is a paucity of information on the utilisation of hospital services by children and adolescents with adrenal insufficiency (AI) and hypopituitarism.Objective and hypotheses: To determine the number of episodes of hospitalisation in children with adrenal insufficiency (AI) and hypopituitarism in Australia, and to analyse trends in these admissions.Method: An analysis of all admissions to Australian hospitals in pat...

hrp0086p1-p222 | Diabetes P1 | ESPE2016

Transient, Neonatal Hyperinsulinemic Hypoglycemia May be Monogenetic, Not Only Secondary to Fetal Life Events

Olesen Louise , Jacobsen Anne , Brusgaard Klaus , Christesen Henrik

Background: Congenital hyperinsulinism (CHI) is a rare, heterogeneous disease with a transient, recurrent or persistent course. Transient CHI (tCHI) is considered to be caused by non-genetic risk factors e.g. birth asphyxia and intrauterine growth restriction (IUGR), while persistent hyperinsulinism is known to be caused by mutations in at least nine genes: ABCC8, KCNJ11, GLUD1, GCK, HADH, SLC16A1, HNF4A, HNF1A and UCP2.Objective and hy...

hrp0082fc1.2 | Adrenal | ESPE2014

Clinical Phenotype of Patients with MCM4 Mutation Suggests Pubertal Delay in Males in Addition to Adrenal Failure, Absent Adrenarche, and Short Stature in Boys and Girls

Hughes Claire , Clark Adrian , Metherell Louise , Costigan Colm

Background: We previously reported the first human mutation in mini-chromosome maintenance homologue 4 (MCM4) in a cohort of patients with adrenal failure, immunodeficiency and chromosomal fragility.Objective and Hypotheses: To report the full endocrine phenotype of 14 patients with MCM4 mutations.Method: Patients case notes were examined and investigations performed to fully assess adrenal function, pubertal development, gonadal f...

hrp0082p3-d2-717 | Diabetes (1) | ESPE2014

Diabetes Mellitus a Late Complication in Glycogen Storage Disease Type 1b

Kumar Kiran , Sachdev Pooja , Randell Tabitha , Denvir Louise

Background: Diabetes mellitus is a late complication in glycogen storage disease type 1 (GSD1). Patients with GSD1 who are poorly controlled have prolonged periods of low glucose levels. As they grow older they become tolerant to these hypoglycaemic episodes, and may be mildly symptomatic or asymptomatic even with low glucose levels. This results in adaptive mechanisms, mediated through down regulation of glucose receptor on the β-cell membrane (GLUT2) to reduce insulin s...