Endocrine Abstracts

Objective: This systematic review aimed to identify and analyze skeletal muscle outcomes in patients with osteogenesis imperfecta (OI), a condition characterized by structural and metabolic abnormalities in skeletal muscle. Specifically, the review focused on assessing muscle mass and function using various imaging modalities.Methods: A systematic search was conducted in MEDLINE and EMBASE databases. Inclusion criteria c...

Objectives: DMD Care UK (www.dmdcareuk.org) is a national project initiated and funded by Duchenne UK in collaboration with Newcastle University and the UK North Star clinical network. The main aim is to facilitate implementation of care standards across the UK national health system. In 2021, DMD Care UK conducted a comprehensive online family survey of all aspects of care of boys with DMD with the aim of capturing the patients experienc...

Background: Hypertension is common in adults with Turner Syndrome (TS) but less is known about hypertension in children with TS.Aim: To determine the frequency of hypertension in a contemporary paediatric TS cohort and to assess its association with clinical characteristics.Patients and methods: Preliminary analysis of 22 girls with TS attending a designated TS clinic at RHC, Glasgow, with at least 2 blood pressure measurements in ...

Background: Glucocorticoid treatment is commonly used for Duchenne Muscular Dystrophy (DMD) in young people, but is associated with a high incidence of fragility fractures. This systematic review aims to assess the current evidence for pharmacological and non-pharmacological treatment for osteoporosis in children and adults with DMD, with the goal of guiding future management strategies.Methods: Three online databases (E...

Background: Osteoporosis commonly occurs as a result of long-term glucocorticoid use and muscle weakness in individuals with Duchenne muscular dystrophy (DMD), rendering them highly susceptible to fragility fractures of vertebrae and long bones. Existing clinical guidelines for the management of osteoporosis in DMD primarily focus on paediatric management. In particular, management during transition from paediatric to adult care is not clarified in current int...

Background: Testosterone therapy is recommended for the management of puberty in Duchenne muscular dystrophy (DMD) from 12 years, according to the 2018 international standards of care with studies demonstrating improvement in linear growth. The majority become non-ambulant during mid-to-late adolescence. Accurately measuring height in non-ambulant adolescent boys can be challenging compounded by lower limb contractures. Estimated height from segmental body par...

Introduction: Delayed puberty is a common indication for referral to paediatric endocrine services. Although guidelines exist for management of testosterone replacement in adults, currently it is not clear what the optimum regimen for testosterone therapy is for children or how best to monitor boys throughout treatment.Aims: To identify the characteristics of testosterone therapy in boys referred for delayed puberty.Methods: Retros...

Objective: The pathophysiology of the increased fracture risk in Type 1 Diabetes (T1D) remains unclear. Given that childhood and adolescence are important physiological periods for optimal bone development, we performed a multimodality assessment to determine the effects of T1D on bone health.Methods: Thirty two affected children at a median (range) age of 13.7 years (10.4, 16.7), were recruited for detailed assessment of bone health. Serum bone alkaline...