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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

Oral Communications

Oral Communications 5

ea0058oc5.1 | Oral Communications 5 | BSPED2018

Growth outcomes in adolescents and adults with Silver-Russell syndrome and the effects of childhood growth hormone treatment

Lokulo-Sodipe Oluwakemi , Canton Ana P M , Giabicani Eloise , Ferrand Nawfel , Child Jenny , Wakeling Emma L , Binder Gerhard , Netchine Irene , Mackay Deborah J G , Inskip Hazel M , Byrne Christopher D , Davies Justin H , Temple I Karen

Childhood short stature in Silver-Russell syndrome (SRS) is frequently treated with growth hormone (GH), however final height and long-term body mass index (BMI) data are limited.Objective: To assess height and BMI in older individuals with molecularly confirmed SRS and compare those previously treated with GH to those untreated.Methods: Growth data on individuals aged ≥13 years with SRS were evaluated from UK, French and Ger...

ea0058oc5.2 | Oral Communications 5 | BSPED2018

Screening for co-morbidities in fibrous dysplasia

Huma Zilla , Mackinnon Natasha , Pollock Rob , Aston William

Fibrous dysplasia (FD) is a rare bone disease which usually presents to Endocrinologists as part of McCune albright syndrome or as precocious puberty. A variety of other co-morbidities have been described for FD including renal phophate wasting secondary to an excess of FGF23; abnormal thryoid and growth hormone production and abnormal cortisol production. A large number of children are referred to our Regional Sarcoma Service with lytic bony lesions, many of which are subsequ...

ea0058oc5.3 | Oral Communications 5 | BSPED2018

Can novel stem cell models help unpick the pathogenesis of the Triple A syndrome?

Costa Alexandra Rodrigues Da , Qarin Shamma , Bradshaw Teisha , Watson David , Prasad Rathi , Metherell Louise A , Barnes Michael R , Skarnes William , Chapple J Paul , Storr Helen L

Triple A syndrome (AAAS) is a rare, incurable, homozygous disorder, characterised by tissue-specific degeneration resulting in adrenal failure and neurodisability. The AAAS gene encodes ALADIN, a nuclear pore complex (NPC) protein necessary for nuclear import of DNA protective molecules, important for redox homeostasis. ALADIN’s role is not fully characterised: its discovery at the centrosome and the endoplasmic reticulum suggests a role outside the NPC. The inte...

ea0058oc5.4 | Oral Communications 5 | BSPED2018

Fourteen years’ experience of hydrocortisone pump therapy for cortisol replacement in adrenal insufficiency

Hindmarsh Peter , Honour John

Conventional hydrocortisone dosing does not mimic the normal cortisol circadian rhythm making treatment optimisation difficult in patients with adrenal insufficiency. We described the first use of a continuous variable subcutaneous hydrocortisone infusion (CSHI) via an insulin pump to replace cortisol in a patient with congenital adrenal hyperplasia (CAH) to mimic the normal plasma cortisol circadian rhythm. We report the long term experience of CSHI in seven patients with adr...

ea0058oc5.5 | Oral Communications 5 | BSPED2018

New insights into the low dose dexamethasone suppression test in paediatric Cushing’s syndrome (CS)

Wilkinson Ingrid CE , Riddoch Fiona , Perry Lesley A , Martin Lee , Grossman Ashley B , Monson John P , Akker Scott , Savage Martin O , Drake William M , Storr Helen L

Background: The low dose dexamethasone suppression test (LDDST) is an important investigation for suspected Cushing’s syndrome (CS). The traditional definition of normal suppression of serum cortisol to ≤50 nmol/l (0.5 mg 6 hrly × 48 hrs) comes from a time when biochemical auto analysers did not routinely detect very low values. Previous studies reported 5.1–8.3% of patients with Cushing’s disease (CD) suppressed to <50 nmol/l at 48 hrs. Many clin...

ea0058oc5.6 | Oral Communications 5 | BSPED2018

Successes and challenges around cohorted introduction of Burosumab in clinical treatment of X-linked hypophosphataemia (XLH)

Tucker Ian , Burren Christine , Barton John , Crampton Rachel

Background: Burosumab (a monoclonal antibody inhibiting elevated FGF23 activity) targets the pathophysiology of XLH better than conventional phosphate and activated Vitamin D and shows encouraging research findings. Whilst marketing authorisation underway, enrolment into a Named Patient Scheme was possible. Delivery of new treatment modalities can present practical challenges. We report our experience of initiating the first UK cohort.Methods: Seven pati...

ea0058oc5.7 | Oral Communications 5 | BSPED2018

A novel GHR pseudoexon mutation causing frameshift and severe postnatal growth failure

Cottrell Emily , Maharaj Avinaash , Chatterjee Sumana , Grandone Anna , Cirillo Grazia , Miraglia del Giudice Emanuele , Metherell Louise A , Storr Helen L

Background: Growth Hormone Insensitivity is usually caused by mutations in the Growth Hormone receptor (GHR). Patients present with short stature, high GH levels, low IGF-I levels and typical Laron syndrome facial features. Our centre previously described the first GHR pseudoexon mutation (42700896A>G, c.618+792A>G). The inclusion of this pseudoexon is predicted to cause in-frame insertion of 36 amino acid residues between exons 6 and 7. This insertion in the ...

ea0058oc5.8 | Oral Communications 5 | BSPED2018

Patients with short stature and GH/IGF-1 insensitivity harbour copy number variants causing a Silver-Russell-like phenotype

Cottrell Emily , Chatterjee Sumana , Moore Gudrun , Ishida Miho , Greening James , Wright Neil , Bossowski Artur , Deeb Asma , Al Basiri Iman , Rose Stephen , Mason Avril , Ahn JooWook , Bint Susan , Savage Martin O , Metherell Louise A , Storr Helen L

Introduction: Our Centre receives international referrals for genetic analysis of children with short stature (SS) and features of GH/IGF-1 insensitivity. Copy number variation (CNV) hasn’t previously been investigated in GH/IGF-1 insensitivity. We hypothesised CNVs contribute to the phenotype in our undiagnosed cohort.Experimental design/methodology: CGH was performed with oligonucleotide array using ~60,000 probes in 60 patients (38 M, mean age 7....

ea0058oc5.9 | Oral Communications 5 | BSPED2018

Diazoxide-induced pulmonary hypertension: UK multicentre retrospective study on the risk factors, monitoring approach andmanagement recommendations

Ching Chen Suet , Dastamani Antonia , Pintus Donatella , Yau Daphne , Aftab Sommayya , Bath Louise , Swinburne Craig , Hunter Lindsey , Giardini Alessandro , Christov Georgi , Senniapan Senthil , Banerjee Indraneel , Shaikh Guftar , Shah Pratik

Objectives: Diazoxide is first line treatment for hypoglycaemia due to hyperinsulinaemic hypoglycaemia (HH). Although sporadic cases of pulmonary hypertension (PH) have been reported, no HH cohort has been systematically characterised to understand severity and risk factors for diazoxide-induced PH.Methods: To investigate the onset, progress and associated factors in PH, patients with HH who developed diazoxide-induced PH in 4 regional centres were retro...