ESPE Abstracts

Introduction: Delayed onset of puberty is quite a common presentation in adolescent endocrine clinics, and the most common cause, particularly in boys is considered to be constitutional delay of growth and maturation. In girls, however, it is more likely that there is a significant underlying problem.Objectives: To review the aetiology of pubertal delay in female patients referred to a single tertiary centre.Methods: All female pat...

Introduction: Medulloblastoma is the commonest paediatric brain tumour and accounts for 20–30% of all brain tumours in the first decade of life. Improvements in treatment strategies have enhanced long-term survival resulting in an increased risk of late sequelae.Aim: Review the prevalence of endocrine dysfunction in survivors of medulloblastoma at a single centre.Methods: Case note review of patients treated for medulloblastom...

Background: Osteosclerotic metaphyseal dysplasia (OSMD, OMIM 615198) is an extremely rare autosomal recessive disorder, within the family of sclerosing bone dysplasias. It is a distinctive type of osteopetrosis characterised by a unique pattern of osteosclerosis predominantly involving the metaphyseal margins of the long tubular bones. OSMD is characterised by skeletal deformity and multiple fractures and associated clinically with developmental delay, hypoton...

Introduction: Bardet-Biedl syndrome (BBS) is a monogenic disease characterized by retinitis pigmentosa (>90%), obesity (72–86%), insulin resistant diabetes, and hypogonadism. Weight management is challenging due to frequent association of learning and visual impairment. At our BBS MDT clinic, dietetic review is provided at each visit. Dietetic input focuses primarily on reduced fat and sugar content in diet and exercise is encouraged. Individualised written dietary pl...

Introduction: Transition of young adults with diabetes has received much attention in recent years. Despite concerns regarding deterioration in glycaemic control and lack of engagement in services following transfer of care from paediatric to adult services, very few studies have looked at the effect of transfer on glycaemic control and clinic attendance as the primary outcome.Objectives: To establish the glycaemic control and rate of microvascular compl...

Introduction: Daily insulin requirement in type 1 diabetes (T1D) depends on various factors.Objectives: To study the correlation of waist circumference (WC) and BMI to daily insulin requirements (TDD) and examine the ethnic variation in this correlation. Associations of estimated glucose disposal rate (eGDR) a surrogate marker of insulin resistance were also studied.Methods: Cross-sectional study of children with T1D attending a di...

Introduction: An important part of diabetes management is maintaining high standards of in-patient care. A previous audit in the South of England demonstrated difficulties consistently achieving standards identified as good practice.Objectives: To identify variations in in-patient care provided to children with type 1 diabetes across the Yorkshire and Humber region.Methods: The audit was conducted against in-patient care standards ...

Background: X-linked hypophosphatemia (XLH) is a rare, progressive, genetic phosphate wasting disorder leading to rickets, lower limb deformities as well as short and disproportionate stature. The condition is inherited in the majority, however spontaneous mutations are reported in ≈30% of cases. Its rarity, coupled with its diverse clinical manifestations, may lead to delayed diagnosis and subsequently delayed treatment initiation. The objective of this an...

Introduction: Hypophosphatasia (HPP) characterized by reduced mineralization results from mutations in the tissue non-specific alkaline phosphatase (ALPL) gene. HPP is clinically variable with extensive allelic heterogeneity in the ALPL gene. We report the findings of in vitro functional studies following site-directed mutagenesis in bi-allelic mutations causing extreme clinical phenotypes; severe perinatal and asymptomatic HPP.<...

Introduction: Conventional treatment of X-linked hypophosphataemic rickets (XLH) involves administration of oral phosphate and vitamin D analogues. An important treatment goal is to heal rickets which is assessed by normalisation of serum alkaline phosphatase (ALP) levels and resolution of radiological signs of rickets.Objectives: To determine the usefulness of serum ALP in assessing disease severity on wrist and knee ra...