Endocrine Abstracts

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 ...

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...

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 ...

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...

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...

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...