Searchable abstracts of presentations at key conferences in endocrinology
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46th Meeting of the British Society for Paediatric Endocrinology and Diabetes

Birmingham, UK
07 Nov 2018 - 09 Nov 2018

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Birmingham, UK - 7-9 November 2018

ea0058p020 | Growth | BSPED2018

The challenges of managing pituitary gigantism

Bendor-Samuel Owen , Pal Aparna , Cudlip Simon , Anderson Gemma , Salgia Sanjay , Makaya Taffy

Introduction: Pituitary gigantism is a rare but clinically significant paediatric condition. Transphenoidal surgery is the treatment of choice, however medical treatment is often considered as adjuvant therapy.Case report: A 10.6 year old boy presented with tall stature. With hindsight he was noticeably tall from age 5 years. At 10 years his height velocity was 12 cm/year, prompting referral and further investigation. His height was 178.7 cm (+5.79 sds a...

ea0058p021 | Growth | BSPED2018

Adherence and long-term outcomes of growth hormone therapy in patients from the UK: the easypod connect observational study (ECOS)

Kirk Jeremy , Ovbude Leroy , Koledova Ekaterina

Introduction: The easypod™ Connect Observational Study (ECOS) was a global study with easypod™, an electronic injection device for recombinant human growth hormone (r-hGH; Saizen®). This study aimed to assess adherence and growth outcomes of patients treated with r-hGH via easypod™ in the UK-based ECOS cohort (NCT01263457).Methods: Patients aged 2–18 years, with ≥3 months of easypod™ data after enrolment int...

ea0058p022 | Growth | BSPED2018

You are what you eat: gonadotrophin independent precocious puberty

Jackson Charlotte , Peacock Amanda , Mushtaq Talat , Chowdhury Nazma , Wei Christina

Introduction: Phytoestrogens are derived from plants that are structurally and functionally similar to oestrogens. Their health benefits are widely extolled, although excessive consumption in children may cause adverse effects.Case 1: A 5.7-year old female presented with a one-month history of breast development and a 3-day history of vaginal bleeding. Prior to presentation, she was taking a health drink containing fennel and sesame seeds, in addition to...

ea0058p023 | Growth | BSPED2018

Optimising diagnostic performance of IGF-I and IGFBP-3 measurement: importance of reference range and cut-off value

Al-Hashmi Laila , Manfredonia Claire , Banerjee Indi , Tetlow Lesley , Murray Philip , Clayton Peter

Background: The diagnosis of growth hormone deficiency (GHD) is based on a combination of clinical suspicion supported by growth hormone stimulation testing. IGF-1 and IGFBP-3 are used as supportive markers. Reports over the last decade have examined the performance of IGF-I and IGFBP-3 in the diagnosis of GHD. It is important that each unit evaluates the utility of these markers in the assay used by their laboratory based on relevant normative data.Aim:...

ea0058p024 | Growth | BSPED2018

Genotype–phenotype correlation in patients with homozygous GHR pseudoexon (6Ψ) mutation

Chatterjee Sumana , Rose Stephen J , Mushtaq Talat , Cottrell Emily , Maharaj Avinaash V , Williams Jack , Savage Martin O , Metherell Louise A , Storr Helen L

Objectives: The homozygous GHR pseudoexon (6Ψ) mutation leads to aberrant splicing of the GHR gene with clinical and biochemical heterogeneity. We investigated whether the phenotypic variability could be explained by transcript heterogeneity i.e. ratio of abnormal (6Ψ GHR) to normal (WT GHR) transcripts and/or the presence of concurrent defects in other short stature (SS) genes.Methods: 6 Ψ GHR ...

ea0058p025 | Growth | BSPED2018

The phenotype and cardio-metabolic associations of Silver-Russell syndrome in an older cohort and the effects of childhood growth hormone treatment

Lokulo-Sodipe Oluwakemi , Wakeling Emma L , Child Jenny , Mackay Deborah JG , Inskip Hazel M , Byrne Christopher D , Davies Justin H , Karen Temple I

The classical features of Silver-Russell syndrome (SRS) appear to become less pronounced with increasing age. Small-for-gestational-age (SGA) birth is associated with adult metabolic syndrome. SRS is associated with SGA but the adult sequelae and long-term effects of childhood growth hormone (GH) treatment are unclear.Objective: To determine the phenotype and cardio-metabolic profile in older individuals with SRS and compare individuals previously untrea...