Searchable abstracts of presentations at key conferences in endocrinology
Previous issue | Volume 45 | BSPED2016 | Next issue

44th Meeting of the British Society for Paediatric Endocrinology and Diabetes

Oral Communications

Oral Communications 6- Endocrine

ea0045oc6.1 | Oral Communications 6- Endocrine | BSPED2016

The intra- and inter-user reliability of testicular volume estimation – a simulation study

Akbarian-Tefaghi Ladan , De Silva Shamani , Langley Joseph , Stanton Andrew , Wright Neil , Elder Charlotte

Background: Measuring testicular volume (TV) by orchidometer is a standard method of pubertal staging in boys. A paucity of evidence exists as to its inter and intra-user reliability and the impact of clinicians’ gender, training and experience on the accuracy of measurements. Specifically engineered prosthetic models of different size testes were developed to investigate the reliability of TV estimation.Method: The study was conducted over the thre...

ea0045oc6.2 | Oral Communications 6- Endocrine | BSPED2016

Systematic trial of Nifedipine in children with Hyperinsulinaemic Hypoglycaemia due to mutations in the ABCC8 gene

Guemes Maria , Shah Pratik , Silvera Shavel , Hinchley Louise , Morgan Kate , Gilbert Clare , Hussain Khalid

Introduction: Several previous case reports have described the use of the calcium-blocker Nifedipine for the treatment of hyperinsulinaemic hypoglycaemia (HH). These cases are a collection of transient/permanent forms of HH, with known/unknown genetics, where Nifedipine has been used either as monotherapy or in combination with other medications. There have been no previous reports of any systematic trial of Nifedipine use in patients with HH due to mutations in the ABCC8<...

ea0045oc6.3 | Oral Communications 6- Endocrine | BSPED2016

Reversible 5α-reductase 2 deficiency in Hypothyroidism

Kanumakala Shankar , Taylor Norman , Bahar Shazia , Buchanan Charles

Introduction: In total of 5α-reductase 2 is vital in sexual development of male foetus; its deficiency causes impaired virilisation due to defective conversion of testosterone to dihydrotestosterone and is an important cause of Disorders of Sexual Development (DSD). We report 3 cases of severe primary acquired auto-immune hypothyroidism, which show a similar picture of 5α-reductase deficiency (5ARD) on urine steroid profile (USP) and reversible following adequate thy...

ea0045oc6.4 | Oral Communications 6- Endocrine | BSPED2016

Impact of intercurrent illness on calcium homeostasis and hypoparathyroidism management

Chinoy Amish , Mughal Zulf , Skae Mars , Babiker Amir , Padidela Raja

Introduction: Hypoparathyroidism is typically managed with calcitriol/alfacalcidol. Close monitoring of serum calcium is required as under-treatment causes symptomatic hypocalcaemia while over-treatment will cause nephrocalcinosis. We report three cases who demonstrated resistance to treatment during an intercurrent illness, necessitating increase in medication doses and monitoring.Case series: Case 1: Two-month-old boy with newly diagnosed hypo...

ea0045oc6.5 | Oral Communications 6- Endocrine | BSPED2016

A novel methodology using high resolution thermal imaging to detect vertebral fractures in children with osteogenesis imperfecta

De Salis Alexandra Fane , Saatchi Reza , Dimitri Paul

Background: Vertebral compression fractures are common in children with osteogenesis imperfecta. Current imaging methods for fracture detection (X-ray and DXA) use ionising radiation. High Resolution Thermal imaging (HRTI) is a non-invasive, non-ionising method that detects infrared radiation energy emissivity to an accuracy of 0.04 °C, providing a quantitative and qualitative map of temperature distribution. Given that the alteration in blood flow in vertebral fractures ...

ea0045oc6.6 | Oral Communications 6- Endocrine | BSPED2016

Predictive factors of an underlying genetic defect in children with short stature and suspected growth hormone insensitivity (GHI)

Chatterjee Sumana , Shapiro Lucy , Davies Kate M , Savage Martin O , Metherell Louise A , Storr Helen L

Background: GH insensitivity (GHI) presents with growth failure, IGF-1 deficiency and normal/elevated GH (basal >5 μg/l and/or peak >10 μg/l). GHI encompasses a spectrum of clinical and biochemical abnormalities. Associations between phenotypic characteristics and genetic defects remain obscure.Objective: Identify phenotypic predictors of underlying genetic defects in GHI.Methods: In total of 102 children (62M) me...

ea0045oc6.7 | Oral Communications 6- Endocrine | BSPED2016

Early treatment with rhGH in patients with Prader-Willi syndrome results in improved height with no respiratory adverse effects

Alatzoglou Kyriaki , Gopalakrishnamoorthy Mahalakshmi , Trewella Emily , Mulla Aayesha , Tan Hui-Leng , Bridges Nicola

Background: Prader-Willi syndrome (PWS) is a complex genetic disorder caused by lack of expression of paternally inherited imprinted genes on Chr15q11-q13. rhGH has beneficial effects on growth, body composition and development. Starting age, dose titration and monitoring remain controversial.Objective: To study retrospectively children who presented in our multidisciplinary PWS clinic and assess response to rhGH treatment in terms of auxology, IGF1 conc...

ea0045oc6.8 | Oral Communications 6- Endocrine | BSPED2016

Outcome of hyperthyroidism diagnosed in childhood and adolescence

Thanawala Nehal , Greening James , Levy Miles , Howlett Trevor , Shenoy Savitha

Background: Long term remission in paediatric onset hyperthyroidism (HT) is low at 20–30% compared to 40–50% in adult onset HT. There are very few studies which report long-term follow-up of paediatric onset HT especially into adulthood and factors which can predict a need for definitive treatment in the long-term.Objectives: To evaluate the long-term outcome of paediatric onset HT with follow-up into adulthood and identify any early predictors...

ea0045oc6.9 | Oral Communications 6- Endocrine | BSPED2016

A single centre experience of Differences/Disorders in Sex Development (DSD) over 20 years

Man Elim , MDT GOSH DSD , Achermann John

Introduction: Differences/Disorders in Sex Development (DSD) represent a diverse range of conditions that present at various stages of life. A multidisciplinary team (MDT) approach is required to reach a specific diagnosis and management plan, but few large single centre studies of the range and prevalence of diagnoses have been undertaken.Method: Medical records of all children with DSD discussed at a single MDT between 1-Jan-1996 and 31-Dec-2015 (n...