ESPE Abstracts

Hypophosphatasia (HPP) is a rare, inherited metabolic disease caused by deficient activity of tissue non-specific alkaline phosphatase (TNSALP). In children, HPP has a heterogeneous clinical presentation, frequently with nonspecific musculoskeletal and systemic manifestations, often leading to misdiagnoses and substantial delays in diagnosis. Data from 323 children with confirmed HPP diagnosis (aged <18 years, ALP activity below the reference range and/or ALPL mut...

Introduction: Paediatric morbid obesity (BMI >99.6th centile for age) causes severe obstructive sleep apnoea (OSA) requiring respiratory support. Patient prognosis is poor and requires urgent intervention. Four patients with morbid obesity and severe OSA were admitted for multidisciplinary team (MDT) intensive weight management and continuous positive airway pressure (CPAP) initiation.Methods: The patients...

Background: Long-term outcomes in diabetic patients are associated with good glycaemic control. In the UK, the National Institute of Clinical Excellence recommends that insulin pump therapy is used for patients when multiple injections are impractical or inappropriate (Guideline 151, 2008). However, insulin pumps are very expensive and some previous studies do not suggest a significant improvement in glycaemic control compared with multiple injections. The aim...

Background: Hypophosphatasia (HPP) is an inherited multisystem disorder predominantly affecting the mineralization of bones and teeth. HPP is caused by pathogenic variants in ALPL, which encodes tissue non-specific alkaline phosphatase. A major challenge in diagnosing HPP is interpreting variants in ALPL classified as variants of uncertain significance (VUS) according to ACMG/AMP criteria, creating uncertainty in patients and treating physicians resulting in d...

Quality of care of children living with diabetes varies widely around the world. Since discovering of insulin a hundred years ago, it’s still unavailable for a large part of children living with diabetes in developing world. According to World Health Organisation (2019), less than 13% of people living with diabetes in these countries have access to long acting insulin analogues. Thus, primary challenges of management of type I diabetes is reduction of mortality especially...

Introduction: Complications are frequently reported post hypospadias repair and there is a need to understand the factors that influence their occurrence.Aim: The aim of this study was to identify the occurrence of complications in boys with hypospadias that are in the I-DSD Registry.Methods: Data from boys born with hypospadias between 2010-2020 were obtained from the I-DSD regist...

Background: The new adipokine/myokine meteorin-like (Metrnl) has been proposed to be of interest for obesity and metabolic disease through its potential role for brown/beige fat thermogenesis and macrophage activation in mice. METRNL was reported to be expressed in white adipose tissue (AT) and upregulated during adipogenesis and by exercise and.Aims: In this study we analysed the expression of METRNL during human adipogenesis and its regulation...

Background: Otological problems in Turner syndrome (TS) are notoriously common and troublesome, often requiring intervention with adeno-tonsillectomy, insertion of ventilation tubes and occasionally resulting in serious disease such as cholesteatoma.Survey of otological problems in the West of Scotland: A case note review of 174 girls attending the Turner clinic in Glasgow, Scotland from 1989–2015 found that of 155 patients in whom data were availab...

Introduction: Diabetes is a global disease with approximately 425 millions of people affected throughout the world. The treatment cost for diabetes constitutes a significant economic burden and is estimated to increase in areas of Africa, South East Asia and the middle east in parallel to the increase to the disease incidence. These regions contribute differently in the global market revenue for the use of continuous glucose monitoring (CGM) and insulin pump t...

Blood transfusion and iron chelation are conventional treatments for β-thalassemia (BTM). However, iron overload in parenchymal organs and endocrine glands still occurs in a good number of these patients.Objective: To evaluate the prevalence of iron-related complications (short stature, growth retardation, and growth hormone deficiency) in BTM.Methods: We performed an electronic search in PubM...