Endocrine Abstracts

Background: Hypoglycaemia is a common presentation in paediatrics, linked to rare endocrine pathologies. This case highlights potential pitfalls when assessing and managing a child with hypoglycaemia.Presenting problem: A 15-year-old, previously well female, presented with significant hypoglycaemia (2.2 mmol/l). A hypoglycaemia screen was performed which revealed an inappropriately low cortisol (111nmol/l), she was therefore treated for adrenal insuffici...

Introduction: McCune Albright syndrome (MAS) is characterised by at least 2 of 3 features: polyostotic fibrous dysplasia (FD), café-au-lait skin pigmentation and autonomous endocrine hyperfunction. Growth hormone excess if present (GH) can worsen symptoms of FD.Case report: A 3 year old girl presented with vaginal bleeding. A single café-au-lait patch was present (3 cm). A diagnosis of MAS was made, with a c.601>T mutation found in the GNAS...

Background: Bone age assessment is used in the management and monitoring of treatment effects in growth disorders. This may be associated with a considerable variability between reporters. This subjectivity has raised questions about acceptable levels of error in our current practice and has led us to search for other tools for assessing bone ages.Method: A single observer was trained in reporting bone ages using Tanner Whitehouse 3 atlas and these resul...

A 7.7 year old girl born to consanguineous was assessed for poor growth; height −3.2 SDS, weight −2.7 SDS, BMI −0.8 SDS. Examination revealed chubby cheeks, abdominal obesity, relatively thin limbs and a suggestion of mid-face hypoplasia. There was no scoliosis or other dysmorphic features.Investigations found a 46XX karyotype and negative coeliac screen. Pituitary function testing revealed high basal Growth Hormone (GH) of 6.5 ug/l, ri...

Adrenal insufficiency (AI) is characterised by a lack of cortisol production from the adrenal glands. This can be a primary adrenal disorder or secondary to adrenocorticotropic hormone (ACTH) deficiency or suppression from exogenous glucocorticoids. Symptoms of AI in children may initially be non-specific and include growth faltering, lethargy, poor feeding, abdominal pain, vomiting and prolonged recovery from infections. AI is treated with replacement doses of hydrocortisone,...

Continuous glucose monitoring (CGM) allows continuous real-time blood glucose monitoring and informs users of blood glucose trend data and alarms which warn users of high or low blood glucose readings. Current evidence suggests that CGM can reduce episodes of hypoglycaemia in conditions such as congenital hyperinsulinism and metabolic disorders. Hypoglycaemia secondary to these conditions is serious with almost 50% of children demonstrating neurological impairments as a result...

Case report: An 11-year-old boy presented with an increasingly waddling gait and backache. He had been born small for gestational age (BW 1.8kg; -4.7 SDS) and had a history of dyspraxia and autism. He reported reasonable dairy intake and had no history of previous fractures or clinical signs of osteogenesis imperfecta (OI). Spinal imaging revealed multiple vertebral fractures. Malignancy and systemic inflammatory causes were excluded. An OI gene panel revealed a single pathoge...

Introduction: An 18 day old term male baby presented with faltering growth and hyponatraemia. Extensive investigations suggested the cause of hyponatraemia was water excess which may result from either overproduction of Antidiuretic hormone (SIADH) or the nephrogenic syndrome of inappropriate antidiuresis (NSIAD). Genetic testing demonstrated a hemizygous mutation in the AVPR2 gene.Case report: The infant presented with 8% weight loss and hyponatraemia (...

Introduction: Juvenile thyrotoxicosis is treated with anti-thyroid drugs using a block and replace or dose titration regimen. There is a high rate of relapse and majority require definitive treatment with surgical or radio-iodine ablation. Increasingly radio-iodine therapy is being used in children, particularly in the USA, but experience with this is limited in the UK. In our unit we have an experienced paediatric thyroid surgeon and we have always carried out surgery in chil...

Introduction: Improved survival in childhood acute lymphoblastic leukaemia (ALL) has highlighted the importance of recognising and preventing skeletal morbidity. This study aims to assess bone health of ALL patients and compare this to other paediatric patients with chronic illness.Methods: Dual energy absorptiometry (DXA) scan results for total body bone mineral density (TBBMD), lumbar spine bone mineral apparent density (LSBMAD) and total body less hea...