hrp0082p1-d3-49 | Bone (1) | ESPE2014

Vertebral Fracture Assessment in a Paediatric Population using Dual-Energy X-ray Absorptiometry

Kyriakou Andreas , Shepherd Sheila , Shaikh Guftar M , Ahmed Syed Faisal , Mason Avril

Background: Vertebral fractures (VF) are recognised as an important aspect of bone health in children and adolescents, yet most of them are not clinically apparent. The clinical utility of vertebral fracture assessment (VFA) using dual-energy X-ray absorptiometry (DXA) for vertebral morphometry has not been evaluated in the paediatric population.Method: VFA was performed independently by two non-radiologist observers in 110 patients (52M/58F) as part of ...

hrp0082p1-d1-181 | Perinatal and Neonatal Endocrinology | ESPE2014

The Prevalence and Outcome of Sex Chromosome Abnormalities Detected Prenatally in Scotland

Lucas-Herald Angela , McGowan Ruth , Cann Fiona , Crawford Lorna , Ahmed Syed Faisal

Background: Prenatal diagnosis (PND) via amniocentesis or chorionic villus sampling may result in the identification of a sex chromosome abnormality, often as an incidental finding.Objective and hypotheses: The aims of this study were to ascertain the prevalence of sex chromosome abnormalities detected by prenatal diagnosis in Scotland and to determine the outcomes for these cases.Method: A retrospective review of all prenatal kary...

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...

hrp0082p2-d3-316 | Bone (2) | ESPE2014

Bone Size and Bone Mineral Content in Adolescents and Young Adults with Eating Disorders

Mason Avril , Shepherd Sheila , Oakley Charlotte , Thrower Michelle , Kyriakou Andreas , Shaikh Guftar , Ahmed Syed Faisal

Background: There is growing concern about the impact of eating disorders on the bone heath during adolescence where peak bone mass acquisition is of paramount importance.Method: A total of 85 patients (77F/8M, 75% anorexia nervosa(AN) and 25% atypical eating disorder), median age 15.2 years (range, 10.9–19.8) and median BMI SDS −1.3 (−4.7 to 0.8) attended the bone densitometry service between Jan 2009 and Dec 2013 for total body (TB) an...

hrp0082p2-d1-460 | Growth | ESPE2014

Skeletal Disproportion and Final Adult Height in Childhood-Onset Crohn’s Disease

Mason Avril , Iljuhhina Jelena , Laird Susan , Ross David , Ahmed Syed Faisal , Gaya Dan R , Gerasamidis Konstantinos

Background: Short stature is a recognized complication of Crohn’s disease (CD) in children. Less is known on the impact of disease on final adult height and body proportions.Objective and hypotheses: To assess height and body proportions in 48 adults (F: 30; M: 18) with childhood (ACO) or adult (AAO) onset CD and 44 children (C) (F:22; M:22) with CD.Method: Standing, sitting height (SH) and leg length (SILL) were measured 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...

hrp0089p2-p280 | Growth & Syndromes P2 | ESPE2018

Skeletal Disproportion and Growth Impairment in Glucocorticoid Treated Boys with Duchenne Muscular Dystrophy

Kao Kung-Ting , Joseph Shuko , Brown Sarah , Capaldi Nadia , Dunne Jennifer , Horrocks Iain , DiMarco Marina , McMillan Martin , Shepherd Sheila , Ahmed Syed Faisal , Wong Sze Choong

Introduction: Although short stature is common in boys with Duchenne Muscular Dystrophy (DMD), little information on body proportions and the GH/IGF-1 axis exists.Methods: Total height (Ht), sitting height (SH), leg length (LL) and bone lengths (femur, tibia, humerus) in boys with DMD (n=30) and healthy boys (n=79) were measured using DXA digital images by 1 observer. Insulin growth factor-1 (IGF1), IGF binding protein-3 (IGFBP-3) and a...

hrp0086p1-p115 | Bone & Mineral Metabolism P1 | ESPE2016

A European Survey to Identify New Roads for Care, Training and Research Around Rare Metabolic Bone Diseases

Fernandez Isabelle , Ahmed Syed Faisal , Bishop Nick , Brandi Maria Luisa , Doulgeraki Artemis , Haeusler Gabriele , Hogler Wolfgang , Kostik Mikhail , Makitie Outi , Moreno Gabriel Martos , Nilsson Ola , Schnabel Dirk , Šumnik Zdenek , Tillmann Vallo , Turan Serap , Zillikens Carola , Linglart Agnes , on behalf of the European Metabolic Bone Network

Background: Rare metabolic bone diseases (RMBD) are at the crossways of Endocrinology, Nephrology, Orthopaedic surgery and Rheumatology. Most of RMBD lead to short stature, bone pain, tooth anomalies, leg deformities, bone fragility and disability of variable importance. The organization of care varies immensely amongst European countries. Several European networks dedicated to RMBD already exist, supported by societies such as ESPE, ECTS or research grants, albeit their focus...

hrp0086p1-p356 | Gonads & DSD P1 | ESPE2016

A New International Registry Highlights the Differences in Practice for Reaching a Diagnosis of CAH – On Behalf of the I-CAH/I-DSD Registry User Group

Kourime Mariam , Bryce Jillian , Jiang Jipu , Karunasena Nayananjani , Guran Tulay , Hannema Sabine Elisabeth , Cools Martine , Van Der Grinten Hedi L Claahsen , Krone Nils , Darendeliler Feyza , Balsamo Antonio , Bonfig Walter , Nordenstrom Anna , Hiort Olaf , Dagmar Lallemand , Ross Richard , Ahmed Syed Faisal , Koehler Birgit , Acerini Carlo , Mendonca Berenice B , Bertelloni Silvano , Lisa Lidka , Bonfig Walter , Elsedfy Heba , Marginean Otilia

Background: Following the 2010 CAH consensus, the need for genetic confirmation of diagnosis remains uncertain and variation in practice is unclear.Methods: This variation was assessed by using the International CAH(I-CAH) Registry which was developed using the same platform as the I-DSD Registry.Results: After the development of the I-CAH Registry in October 2014, the rate of addition of CAH cases increased from 2/month to 14/mont...

hrp0084p2-312 | DSD | ESPE2015

Birth Weight in Different Aetiologies of Disorder of Sex Development

Poyrazoglu Sukran , Darendeliler Feyza , Ahmed Syed Faisal , Bryce Jillian , Jiang Jipu , Rodie Martina , Hiort Olaf , Hannema Sabine E , Bertelloni Silvano , Lisa Lidka , Guran Tulay , Hughes Ieuan , Cools Martine , Chatelain Pierre , Claahsen-van der Grinten Hedi L , Nordenstrom Anna , Holterhus Paul-Martin , Kohler Birgit , Niedziela Marek , Krone Nils

Background: It is well known that boys are heavier than girls at birth. Causes of this difference are thought to originate from the Y chromosome and as a result of androgen action. Although some studies showed that sex dimorphism in size at birth is dependent of fetal androgens, one study reported that it is not generated by action of androgens.Objective and hypotheses: To determine birth weight (BW) of children in different aetiologies of disorder of se...