ESPE Abstracts

Background: Bisphosphonate therapy (BPT) reduces osteoclast activity and may be associated with adynamic bone turnover. The extent of suppression of bone turnover and its determinants are unclear.Method: Markers of bone metabolism were evaluated in 15 children (9M/6F) undergoing BPT for osteoporosis. The median age at first biochemical assessment was 10.8 years (0.16, 16.3). Serum type I collagen cross-linked C-telopeptide (CTX), alkaline phosphatase (AL...

Background: There are limited data in paediatric population on the association between vitamin D deficiency/treatment and glucose/insulin metabolism.Objective and hypotheses: This study aimed to investigate the effect of vitamin D therapy on glucose homeostasis, insulin resistance and bone turnover, in children with vitamin D deficiency.Method: 22 children aged 3 months to 10 years (nine male) who were diagnosed with vitamin D defi...

Introduction: The molecular aetiology of familial glucocorticoid deficiency (FGD) is very heterogeneous. A recent report of a genetic variant in TXNRD2, the gene encoding thioredoxin reductase Type 2, in a South Asian kindred with FGD suggests that the maintenance of redox balance may be critical for adrenocortical function. We present the second report of an individual from another south Asian family harbouring a different pathological variant in <em...

Introduction: Recent studies point to the existence of androgen-responsive non-coding (nc) RNAs in peripheral blood mononuclear cells (PBMC) RNA.Aim: To quantify the androgen-responsive gene expression of SNORD5 and RNY5 and investigate their relationship to the testosterone (T) rise following hCG stimulation in boys with no genetic evidence of androgen insensitivity.Methods: 19 bo...

Background: The prevalence of atypical genitalia and the time taken to assign sex in such cases remains unclear. Provision of optimum healthcare during this period requires a clear understanding of the occurrence of atypical genitalia.Methods: Prospective electronic survey of clinical members of managed clinical networks in Scotland between 2013 and 2018 seeking notification of term neonates requiring specialist input fo...

Background: The prevalence of vertebral fractures (VF) in Duchenne Muscular Dystrophy (DMD) is currently unknown as systematic spine imaging is rarely performed.Objective: To determine the prevalence of VF in DMD and factors associated with VF.Method: A prospective study utilising systematic screening with DXA vertebral fracture assessment (VFA) was performed in all 47 eligible boys. 6/47 were excluded due to spinal instrumentation...

Background: Type 1 Diabetes (T1D) is associated with increased fracture risk.Aim: Understand the association between glycaemic control and bone health in children with T1D.Method: Children (n, 32) with T1D and a median (range) age of 13.7 years (10.4,16.4), were recruited to study bone mineral content (TB & LS) and body composition by DXA. All data were corrected for size. Vitamin D, Bone alkaline phosphatase (BAP) and...

Background: Recent studies using data from the International Congenital Adrenal Hyperplasia (CAH) Registry (www.i-cah.org) (1), have provided valuable insight into the determinants of reported acute adrenal insufficiency (AI) related adverse events, demonstrating that the I-CAH Registry can be used as a tool to create clinical benchmarks in CAH care.Methods: Care quality reports were created for 32 centres who participat...

Introduction: The degree of consistency between the findings from next generation sequencing (NGS) and detailed endocrine assessment is unclear in boys with XY DSD.Objectives: Examine the range of endocrine and molecular genetic variation in boys undergoing evaluation for XYDSD.Methods: Boys with XYDSD who were evaluated in Glasgow from 2016 to 2018 were included. Sequence variants...

Background: The pathophysiology of the increased fracture risk in Type 1 Diabetes Mellitus (T1DM) remains unclear.Objectives: Perform multimodality assessment to determine the effects of T1DM on bone health and fractures.Methods: Thirty-two children with T1DM at a median (range) age of 13.7 years (10.4, 16.7), and median HbA1c 65mmol/mol (27,100) were recruited. Serum bone alkaline phosphatase (BAP) and c-terminal telopeptide type ...