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...

hrp0089p1-p164 | Growth & Syndromes P1 | ESPE2018

Changing Patterns of Growth in Prader-Willi Syndrome

Irene Neophytou Georgia , Frixou Mikaela , Guftar Shaikh M. , Kyriakou Andreas

Introduction/Aim: Children with Prader-Willi syndrome (PWS) show alterations in infantile, childhood and pubertal growth. Growth Hormone (GH) therapy is recommended due to reported improvements in height velocity (HV) and body composition. The aim was to describe the patterns of growth in PWS and the influence of both changes in clinical practice and GH therapy.Methods: Height SDS (HSDS), BMISDS and HVSDS of children attending a dedicated PWS clinic, 200...

hrp0086p1-p892 | Thyroid P1 | ESPE2016

Transient TSH Elevation in Infants Referred on Newborn Screening – Features, Prevalence and Trends

Ouarezki Yasmine , Jones Jeremy , Fitch Moira , Shaikh Guftar , Donaldson Malcolm

Background: Up to 20% of infants referred on newborn congenital hypothyroidism (CH) screening are subsequently shown to have transient TSH elevation rather than permanent CH. Correct identification of such cases is important to avoid prolonged treatment with thyroxine and unnecessary clinic attendance.Objective: To determine the prevalence, trends and profile of infants with transient TSH elevation referred between August 1979 and December 2015 by the Sc...

hrp0095p1-506 | Growth and Syndromes | ESPE2022

A service evaluation on the management of Noonan syndrome in the West of Scotland

Donat Guillaume , Shaikh Guftar , Kinning Esther , McGowan Ruth

Background: Noonan syndrome (NS) is a condition caused by pathogenic variants of the genes of the RAS-MAPK pathway. Its clinical manifestations are diverse and include congenital heart disease, short stature, ocular abnormalities, coagulation defects and structural renal anomalies. Our aim was to find out whether the patients with a genetic diagnosis of NS in the West of Scotland were managed according to the Management of Noonan Syndrome guidelines (DYSCERNE)...

hrp0089p1-p255 | Thyroid P1 | ESPE2018

Patterns of Thyroglobulin Levels in Infants Referred With High TSH on Newborn Screening, Compared with Iodine-sufficient Healthy Controls

Kallali Wafa , Neumann David , Krylova Katerina , Jones Jeremy H. , Smith Karen , Shaikh Guftar , Donaldson Malcolm

Background: Thyroglobulin (Tg) is exclusively synthesised by thyroid tissue and a potentially useful aid to diagnosis in congenital hypothyroidism (CH). However, its role has yet to be fully evaluated.Objective: To examine the sensitivity and specificity of Tg in helping define the etiology of CH.Patients and methods: Tg was measured in a single laboratory by Immulite 2000 chemiluminescent immunometric assay (CVs 9.8, 5.7 and 5.7% ...

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...

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-d3-502 | Perinatal and Neonatal Endocrinology | ESPE2014

Retrospective Analysis of Cortisol Measurement in Neonates

Kumar Geetika , McNeilly Jane , McDevitt Helen , Ahmed Faisal , Mason Avril , Shaikh Guftar

Background: The predictive value of a random cortisol measurement in the neonatal population with suspected adrenal insufficiency is unknown.Objective and hypotheses: i) determine the indications for measuring cortisol; ii) review subsequent management; and iii) establish predictors for adrenal insufficiency.Method: A laboratory database search identified cortisol results in babies <1 year from three neonatal units between Sept...