hrp0082p2-d3-307 | Bone (2) | ESPE2014

Suppression of Bone Turnover and its Determinants in Children Receiving Bisphosphonate Therapy

Kyriakou Andreas , McNeilly Jane D , McMillan Martin , Shaikh Guftar M , Mason Avril , Ahmed Syed Faisal

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...

hrp0082p3-d3-726 | Diabetes (2) | ESPE2014

Effect of Vitamin D Treatment on Glucose and Insulin Metabolism, and Bone Turnover in Children with Symptomatic Vitamin D Deficiency

El-fakhri Nagla , McMillan Martin , McNeilly Jane , Ahmed S F , McDevitt Helen

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...

hrp0092p1-266 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology (1) | ESPE2019

A Nationwide Study of the Prevalence & Initial Management of Atypical Genitalia & Delayed Sex Assignment in the Newborn

Rodie Martina , Ali Salma , Jayasena Arundathi , Al-Enazi Naser , McMillan Martin , Cox Kathyrn , Cassim Sumaiya M. , Henderson Stuart , Ahmed S.Faisal

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...

hrp0089p1-p031 | Bone, Growth Plate & Mineral Metabolism P1 | ESPE2018

Systematic Screening Using DXA Lateral Vertebral Morphometry is Associated with a High Prevalence of Vertebral Fractures in Duchenne Muscular Dystrophy: Results from ScOT-DMD Study

Joseph Shuko , Shepherd Sheila , Marco Marina Di , Dunne Jennifer , McMillan Martin , Horrocks Iain , Ahmed S Faisal , Wong Sze Choong

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...

hrp0086p2-p160 | Bone & Mineral Metabolism P2 | ESPE2016

Fractures in Children with Type 1 Diabetes are Associated with Poorer Bone Mineral Status and Glycaemic Control

Chen Suet Ching , Shepherd Sheila , McMillan Martin , McNeilly Jane D , Robertson Kenneth J , Wong Sze Choong , Ahmed S Faisal

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...

hrp0094p2-13 | Adrenals and HPA Axis | ESPE2021

Utilisation Of The I-CAH Registry As A Tool For Facilitating Health Quality Improvement Strategies- Results Of An International Survey Of Specialist Centres

Ali Salma R. , Bryce Jillian , McMillan Martin , O’Connell Michele , Davies Justin H. , Ahmed S. Faisal ,

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...

hrp0095fc5.2 | Adrenals and HPA Axis | ESPE2022

Thioredoxin Reductase 2 (TXNRD2) Variant As A Cause Of Micropenis, Undescended Testis And Selective Glucocorticoid Deficiency

Patjamontri Supitcha , Lucas-Herald Angela , McMillan Martin , Prasad Rathi , Metherell Louise , McGowan Ruth , Tobias Edward , Faisal Ahmed S.

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...

hrp0095p1-370 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

An Investigation Of Androgen-responsive Non-coding RNAs In Boys With Atypical Genitalia Without Genetic Variants in the Androgen Receptor (AR)

Alimussina Malika , McMillan Martin , Chudleigh Sandra , D McNeilly Jane , A Diver Louise , McGowan Ruth , S Tobias Edward , Faisal Ahmed S

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...

hrp0092rfc10.3 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

Level of Uncertainty in Diagnostic Evaluation of Boys With XY Disorders of Sex Development (DSD)

Alimussina Malika , Diver Louise A , McNeilly Jane D , Lucas-Herald Angela K , Tobias Edward S , McMillan Martin , McGowan Ruth , Ahmed S Faisal

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...

hrp0089rfc11.5 | Bone, Growth Plate &amp; Mineral Metabolism 2 | ESPE2018

The Determinants of Skeletal Fragility in Children with Type 1 Diabetes Mellitus

Chen Suet Ching , Shepherd Sheila , McMillan Martin , McNeilly Jane , McComb Christie , Foster John , Robertson Kenneth J , Wong Sze Choong , Ahmed S Faisal

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 ...