Endocrine Abstracts

Advances in childhood cancer treatment have led to an overall 5 year survival rate of almost 80%. As a result 1 in 900 adults are now childhood cancer survivors but have increased risk of long-term health consequences. Data from the USA, UK, and Europe have demonstrated a standardised mortality rate of 8.4–10.8. Cardiovascular morbidity (congestive heart failure, myocardial infarction, and strokes) have been reported as the commonest non-neoplastic causes of mortality, wi...

Growth hormone deficiency (GHD) is a licensed and NICE approved indication for growth hormone (GH) treatment but there are no nationally agreed standards for investigation of suspected GHD. Variable practice across the UK could have governance issues and impact on patient experience and equality of access to specialist GH investigation and treatment. Some GH provocation tests carry significant risk and it is therefore essential that these specialist investigations are carried ...

Disorders of sex development (DSD) are a group of conditions caused by atypical development of chromosomal, gonadal or anatomical sex which pose complex, long-term diagnostic, investigative and management challenges requiring expert teams and close collaboration with families and peer groups. The lack of nationally agreed clinical standards for the management of DSD has been recognised by the British Society of Paediatric Endocrinology and Diabetes, and these are now in develo...

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...

Introduction: Children and young people with Turner Syndrome have regular follow up with a paediatric multidisciplinary team to monitor growth, puberty and cardiac comorbidities. As these young women transition to adult care, they need ongoing follow-up for surveillance of potential morbidity and reproductive issues. Following publication of the International Turner Syndrome Consensus Group guidelines on transitional care, a review of current clinical practice in our tertiary ...

GH deficiency is recognised as a complication of adult traumatic brain injury (TBI) but there are conflicting data in children possibly due to the influences such as age at TBI, trauma mechanism but also by timing, method and criteria of hormonal evaluation.Objectives: To assess the long-term impact of TBI on the GH–IGF1 axis following TBI in childhood.Patients: Longitudinal study of 28 participants with a history of moderate/...

Background: Standard glucocorticoid therapy in CAH often fails to control androgen excess, causing glucocorticoid overexposure and poor health outcomes, particularly in adolescents. Efmody, a MRHC, has recently been licensed for CAH patients aged >12 years following a phase 3 study by Merke et al., 2021 demonstrating improved biochemical control in adults, steroid dose reduction over time, and patient-reported benefit.<stron...

Background: Insulin tolerance test (ITT) is the gold-standard investigation in children with suspected growth hormone deficiency (GHD). Despite their benefits, ITTs are resource intensive, potentially dangerous and can result in unnecessary treatment due to false positive results in children that are at low risk for GHD.Methods: Retrospective analysis of all paediatric patients undergoing an ITT in two tertiary hospitals in the UK (centre A between 2017-...

Introduction: Congenital hyperinsulinism (CHI) is a rare disease, characterized by an unregulated insulin release, leading to hypoglycaemia. It is the most frequent cause of persistent and severe hypoglycaemia during the neonatal period and early childhood. Mutations in KATP < genes (ABCC8 and KCNJ11), together account for up to 70% of CHI. CHI can either be transient or persistent. Transient CHI tends to resolve spontaneously and is n...

Background: DSD services are evolving across the UK in response to both family, professional and societal pressures but MDT provision and access to specialist DSD services varies. In November 2017, DSD Clinical Standards were published by the BSPED Clinical Committee with the aim to improve and standardise DSD patient care and these were audited in March 2019. 95% of DSD centres responded with 85% listing psychology as part of their MDT.Aim: 1. To unders...