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47th Meeting of the British Society for Paediatric Endocrinology and Diabetes

Cardiff, UK
27 Nov 2019 - 29 Nov 2019

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BSPED 2019, 27 - 29 November 2019; Cardiff, UK

Poster Presentations

Adrenal, Gonadal, DSD and Reproduction, and Basic Science

ea0066p1 | Adrenal, Gonadal, DSD and Reproduction, and Basic Science | BSPED2019

Learning from clearance studies, 24 h profiling and pump therapy – PUTTING the onus on cortisol replacement rather than 17OHP and androstenedione

Hindmarsh Peter

Convention places 17OHP measures as the way to monitor replacement therapy in congenital adrenal hyperplasia due to P450c21 deficiency. One case several years ago led to questioning of this approach as the 17OHP measures suggested inadequate replacement with hydrocortisone using a general dosing regimen of 12 mg/m2/day and questions about compliance. 24 h cortisol profiles showed high 17OHP concentrations with low cortisol concentrations. Careful studies ...

ea0066p2 | Adrenal, Gonadal, DSD and Reproduction, and Basic Science | BSPED2019

Variations in 17α-hydroxyprogesterone response to hydrocortisone treatment for congenital adrenal hyperplasia in children

Hendriks A Emile J , Oddy Sue , Halsall David J , Thankamony Ajay

Introduction: Hydrocortisone is the main treatment for congenital adrenal hyperplasia (CAH) in children. The optimal biochemical monitoring and replacement regimen of these children continues to be debated. We explored variations in blood spot 17α-hydroxyprogesterone (17-OHP) levels.Methods: Single centre retrospective cross-sectional study of children with 21-hydroxylase deficiency aged <18 years. Patients treated with hydrocortisone who had dr...

ea0066p3 | Adrenal, Gonadal, DSD and Reproduction, and Basic Science | BSPED2019

Non classical congenital adrenal hyperplasia presenting with a severe salt losing crisis

Kwong Ruth Ming Wai , Gan Hoong-Wei , Pitkin Sarah , Dawnay Anne , Hughes Claire

Introduction: Non-classical congenital adrenal hyperplasia (NCCAH) is a common autosomal recessive disorder characterized by androgen excess. It classically presents in later life with symptoms of acne, hirsutism, and premature adrenarche. This case illustrates a rare case presentation of NCCAH in early infancy.Clinical case: An 18 day old term male infant was brought to the A&E for 9% weight loss. On review he was mottled, but otherwise examination ...

ea0066p4 | Adrenal, Gonadal, DSD and Reproduction, and Basic Science | BSPED2019

A regional service for children and young people with familial hypercholesterolaemia: lessons learnt

Nurse James , Shaunak Meera , Sherman Catherine , Cazeaux Angela , Davis Nikki

Introduction: Familial Hypercholesterolaemia (FH) is an autosomal dominant inherited disorder of lipid metabolism. Affected children have elevated cholesterol from birth with accelerated atherosclerosis and significant cardiovascular disease (CVD) from the third decade. 1 in 250 people are affected and early treatment can eliminate the risk of premature CVD. Genetic testing guidance was published in August 2008 and a CVD outcomes strategy was produced in 2013. From 2014 the Br...

ea0066p5 | Adrenal, Gonadal, DSD and Reproduction, and Basic Science | BSPED2019

Optimisation of transfection methods using various formats of gRNA delivery for CRISPR Cas9 mediated gene knock out in Beta-TC-6 cells

Purushothaman Preetha , Walker Amy , Attwood Martin , Maeshima Ruhina , Hussain Khalid , Hart Stephen

Background: The CRISPR/Cas9 genome-editing platform is a powerful technology to create genetically engineered cells and organisms. However, the success of CRISPR genome editing experiments is limited by the intracellular delivery and expression of Cas9 endonuclease protein and guide RNA (gRNA). Beta-tumour cells (βTC-6), derived from transgenic mice, exhibit glucose stimulated insulin secretion which makes them a valuable tool in understanding the mechanisms that regulate...

ea0066p6 | Adrenal, Gonadal, DSD and Reproduction, and Basic Science | BSPED2019

Improving midwives’ recognition of atypical genitalia and differences of sexual development (DSD) through the use of an e-learning module

Eddy Danielle , Crowne Elizabeth , Alderson Julie

Background: Confident recognition of atypical genitalia of the newborn and early referral to specialist centres allows for the smooth and successful management of DSD patients. Midwives conduct the majority of newborn infant physical exam (NIPE) yet may not be confident in recognising DSD and talking to families affected.Aim: To develop an e-learning module for examining newborn genitalia, recognising the significance of differences in genital appearance...