hrp0097p1-286 | Fetal, Neonatal Endocrinology and Metabolism | ESPE2023

Aetiology and Outcome of Hypoglycaemia in Young Children

Yean Chai Xin , Guftar Shaikh M. , D. McNeilly Jane

Background: Hypoglycaemia is one of the most common presenting complaints at paediatric emergency department. There are many distinct causes of hypoglycaemia, ranging from nutritional insufficiency, infectious origins, to metabolic disorders. A thorough investigation can help differentiate the cause of hypoglycaemia, with subsequent tailored management. All patients with hypoglycaemia should have a full clinical assessment and together with a hypoglycaemia scr...

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...

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...

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...

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...

hrp0082p2-d2-576 | Sex Development (1) | ESPE2014

The Utility of AMH for Predicting Testosterone Response to hCG Stimulation in Children with Suspected DSD

Kyriakou Andreas , McNeilly Jane D , Shaikh Guftar M , Mason Avril , Shapiro David , Ahmed Syed Faisal

Background: In children undergoing investigation of testicular function the relationship between serum anti-Mullerian hormone (AMH) and the testosterone response to hCG stimulation test (HST) is unclear.Method: 75 children (3F, 72M) with a median age of 1.08 years (range, 0.003, 14.3) were investigated for suspected DSD by AMH on D1 and testosterone on D1 and D4, before and after 3-day HST. Of these children, 27 had an additional prolonged HST. Normal te...

hrp0094fc7.2 | Fetal Endocrinology and Multisystem Disorders | ESPE2021

Maternal, rather than fetal, genetic variation in vitamin D metabolism is associated with umbilical cord blood 25-hydroxyvitamin D in pregnancies supplemented with cholecalciferol: findings from the MAVIDOS randomized controlled trial

Moon Rebecca , D’Angelo Stefania , Curtis Elizabeth , Cooke Laura , Davies Justin , Crozier Sarah , Godfrey Keith , Graham Nikki , Holloway John , Lewis Rohan , Cleal Jane , Inskip Hazel , Cooper Cyrus ,

Background: Neonatal vitamin D deficiency (VDD) can result in symptomatic hypocalcemia, seizures and cardiomyopathy and has been associated with reduced bone mineralization in childhood, but is potentially preventable with antenatal cholecalciferol supplementation. Single nucleotide polymorphisms (SNP) in the vitamin D metabolism pathway are associated with serum 25-hydroxyvitamin D [25(OH)D] in adulthood. We assessed whether maternal and/or offspring SNPs in ...

hrp0089p1-p030 | Bone, Growth Plate & Mineral Metabolism P1 | ESPE2018

Bone Biochemistry in Children with Fractures Presenting with Suspected Non-accidental Injury

Forbes Owen , McNeilly Jane , McDevitt Helen , Houston James , Ahmed S. Faisal , Mason Avril

Introduction: Fractures have been recorded in up to one third of children who have suffered from physical abuse. The British Paediatric and Adolescent Bone Group (BPABG) position statement on vitamin D states that the level of 25 hydroxyvitamin D is not relevant to causation of fractures unless there is radiological or biochemical evidence of rickets. Clinicians are often asked in the court setting about the relevance of abnormal serum investigations in children who have fract...

hrp0082p1-d2-45 | Bone | ESPE2014

Longitudinal Changes of Bone Mineral Content in Children with Cystic Fibrosis

Chirita-Emandi Adela , Khanna Sheila , Kyriakou Andreas , McNeilly Jane , Devenny Anne , Ahmed Faisal

Background: A quarter of young adults with cystic fibrosis (CF) may have osteoporosis. However, children with CF do not seem to have an increased risk of fractures.Objective: We aimed to examine the factors that may determine longitudinal changes in bone mineralisation in children with CF.Method: 101 children (51 females) had DXA performed and the data were expressed as expected bone mineral content for bone area SDS (BMCSDS). Of t...

hrp0089p1-p233 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P1 | ESPE2018

Phenotypic and Genetic Assessment of Boys with a Suspected XY Disorder of Sex Development

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

Introduction: Among Disorders of Sex Development (DSDs), XY DSD, represents the most challenging group in terms of identifying a diagnosis.Objectives: The aim of the study was to determine the prevalence of biochemical and molecular genetic tests in a cohort of boys with XY DSD and to collate the phenotypes of patients with results of laboratory investigations and presence of associated abnormalities.Methods: New and existing cases...