hrp0082p1-d2-249 | Thyroid (1) | ESPE2014

Capillary TSH Cut-off Levels for Congenital Hypothyroidism Screening: Evidence Against Adopting the UK Threshold of 10 mIU/l

Jones Jeremy , Shaikh Guftar , Mason Avril

Background: The recommended capillary TSH cut-off level for neonatal screening for congenital hypothyroidism (CH) in the UK is 10 mIU/l. However several of the regional screening laboratories have adopted lower cut-off limits in order to increase detection sensitivity. There is now pressure to standardise the UK screening programme with universal adoption of the recommended cut-off. Scotland has been using a cut-off of 8 mIU/l since the adoption of AutoDELFIA TSH screening met...

hrp0097p1-410 | Adrenals and HPA Axis | ESPE2023

Patient education for management of sick day episodes in adrenal insufficiency: A systematic review of structured education and online patient resources

Bradford Anna , Mason Avril , Choong Wong Sze

Background: Management of adrenal insufficiency(AI) during sick-day episodes require adjustment of oral glucocorticoid therapy or administration of intramuscular injection to prevent adrenal crisis. Education of families of a young person with AI on management during sick day episode is therefore critical.Aim: To critically appraise patient education of sick-day episode management of adrenal insufficiency by conducting</...

hrp0092t19 | Top 20 Poster | ESPE2019

Urinary Gonadotrophins in Girls with Turner Syndrome

Boncompagni Alessandra , McNeilly Jane , Murtaza Mohammed , Iughetti Lorenzo , Mason Avril

Background: Girls with Turner Syndrome (TS) are at an increased risk of primary ovarian failure. Oestrogen replacement is commenced at around the age of 12 years, in girls who do not enter puberty spontaneously, with incremental changes to the dose over the next 3 years until adult replacement doses are achieved. We have previously shown good correlation between serum and urinary LH (uLH) and FSH (uFSH) in children being assessed for disorders of puberty.<...

hrp0097p2-7 | Growth and Syndromes | ESPE2023

Survey of the Prevalence of Balance Issues in Turner Syndrome

Duncan Nicola , Todd Stacey , Smyth Arlene , Mason Avril , Kubba Haytham

Background: Turner Syndrome (TS) is commonly complicated by otological problems, of which middle ear infections, conductive and sensorineural hearing losses are most frequent. Middle ear infection and hearing loss, isolated or in combination, have putative roles in balance disturbance and may be related to the increased fracture risk exhibited in TS in adulthood. Our aim was to both establish the prevalence of balance problems in TS during childhood and explor...

hrp0092rfc2.6 | Bone, Growth Plate and Mineral Metabolism Session 1 | ESPE2019

Impact of Pubertal Suppression on Body Composition and Bone Mineral Density in Adolescents with Gender Dysphoria

Shepherd Sheila , Dewantoro Dickson , Gerasimidis Konstantinos , Shaikh M Guftar , Mason Avril , Choong Wong Sze , Kyriakou Andreas

Introduction: Pubertal suppression with gonadotrophin releasing hormone (GnRH) analogue is introduced after the onset of puberty in adolescents with gender dysphoria (GD). As puberty is a critical period for bone accrual and changes in body composition, alterations in body composition and bone mass may be observed during treatment.Methods: Thirty-eight adolescents (32/38 assigned females at birth) with GD had dual energy...

hrp0089p1-p030 | Bone, Growth Plate &amp; 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...

hrp0086p2-p836 | Syndromes: Mechanisms and Management P2 | ESPE2016

Renal Anomalies in Children with Turner Syndrome: Experience from a Single-Centre

Lucaccioni Laura , Wong Sze Choong , Strano Rosario , Donaldson Malcolm , Cascio Salvatore , Mason Avril

Background: Renal abnormalities are estimated to be present in 30–40% of Turner Syndrome (TS). Monosomic patients have a reported greater risk for renal anomalies.Objective: To assess the frequency of renal malformations in TS according to karyotype; and report related complications at most recent follow up.Methods: The medical records of 182 patients with TS born between 1970 and 2013 were retrospectively reviewed.<p clas...

hrp0086p1-p890 | Thyroid P1 | ESPE2016

The Molecular Causes of Congenital Hypothyroidism: The Scottish experience

Kourime Mariam , Jones Jeremy , Ansari Aisha , Bradley Therese , Mason Avril , Shaikh Guftar

Background: Inherited forms of congenital hypothyroidism (CH) account for approximately one quarter of all causes of CH. These include biosynthetic defects and developmental and morphological abnormalities.Objective: Describe the Scottish experience of genetic testing in CH.Method: Retrospective study over 37 years up to March 2016. Patients were selected on the basis of imaging findings or strong family history of CH.<p class=...

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 ...

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...