ESPE Abstracts

Introduction: Delayed or absent puberty is thought to be common in boys with Duchenne Muscular Dystrophy (DMD).Objective: To evaluate testicular development, function and puberty in DMD in a 12 months prospective longitudinal study.Methods: Thirty-four boys had assessment of puberty and testes volume by a single endocrinologist. Testes volumes were converted to Z-scores adjusted for bone age. Boys were divided into group A [Baselin...

Background: There is little information on growth and fractures in boys with Duchenne Muscular Dystrophy (DMD).Objective & hypotheses: To determine the extent of growth & skeletal morbidity in a contemporary cohort of DMD in the UK.Method: Clinical details of 832 boys with DMD in the North Star database (2006–2015) from 23 centres were analysed following categorisation into five age groups: A:<5 years (n, ...

Background: Diabetic dyslipidaemia is characterized by high triglycerides (TG), low HDL cholesterol (HDL-C) and the presence of small, dense LDL. The UK National Paediatric Diabetes Audit (NPDA) 2013/14 reported that 16.1% of children and young people (CYP) with type 1 diabetes mellitus (T1DM) have a total cholesterol (TC) of ≥ 5 mmol/l. TG, LDL and TC-HDL-C were not reported in the NPDA. The significantly high prevalence of hypercholesterolemia in CYP with T1DM is conce...

Background: Androgen insensitivity syndrome (AIS) is a rare disease due to end organ resistance of androgens. AIS is commonly caused by the mutations of androgen receptor (AR) gene located on chromosome Xq11-12. The mode of inheritance is hemizygous, where males get severely affected and females remain as carriers.Objective and hypotheses: Here, we describe the Phenotype–Genotype correlation and gender identity of pubertal and post pubertal...

Background: Measuring testicular volume (TV) by orchidometer is a standard method of pubertal staging in boys. A paucity of evidence exists as to its inter and intra-user reliability and the impact of clinicians’ gender, training and experience on the accuracy of measurements.Objective and hypotheses: We engineered prosthetic models of different size testes to investigate the reliability of TV estimation.Method: The study was ...

Context: Central precocious puberty (CPP), treated or untreated, may have clinical implications in adulthood.Objective: To assess the general health status and metabolic outcome of former CPP women between the third and fifth decades of life.Design: Case–control study of an historical cohort using the computerized database of a health management organization.Participants: Study group – 148 CPP women...

Objective and hypotheses: A retrospective review of bone morbidity in a contemporary cohort of boys with Duchenne muscular dystrophy (DMD) managed in a Scottish tertiary neuromuscular centre.Method: Clinical details and results of bone surveillance were obtained in 47 boys, aged 9 years (2–16). DXA bone mineral content (BMC) at total body (TB) and lumbar spine (LS) were adjusted for bone area. Fractures were classified based on radiological confirma...

Background: Cystic fibrosis (CF) is the most common genetic sever disease in Caucasian populations. It is crucial to identify patients with CF who are at increased risk of acquiring CF-related diabetes (CFRD).Objective: To identify potential demographic, clinical, and laboratory predictors of CFRD in patients with CF.Method: The study group included patients more than 10 years of age with CF and pancreatic insufficiency who attende...

Background: Obesity in adolescence is associated with a 70% likelihood of obesity or overweight in adulthood. Hence, effective intervention programs for childhood obesity in high-risk populations are needed.Objectives: i) To compare the efficacy of two intervention strategies, involving parents only vs parent and child, to a control group, in the treatment of childhood obesity. ii) To identify clinical demographical and biochemical predictors for decreas...

Background: In 2020, a UK wide collaborative project between clinicians and patient organisations (Funding from Duchenne UK) called DMD Care UK was launched. The project aims to define the care standards which should be implemented as a priority in all UK centres. Adapting recommendations from the 2018 international care consensus, items were highlighted and used as standards for this audit in one tertiary centre. The standards are that all boys with DMD<p...