Endocrine Abstracts

Background: Congenital adrenal hyperplasia, (CAH) is a common autosomal recessive condition, 95% of which is attributable to mutations in the 21-hydroxylase (CYP21) gene. There is a wide range of clinical features and genotype phenotype correlations for common mutations are well described.Case: EG presented to the endocrine clinic at the age of 3.5 years with pubarche of 6 months duration and Tanner staging of PH3, B1and clitoromegaly (Prader stage 1) Ur...

Introduction: Aurantiasis cutis is an asymptomatic condition characterised by yellow discolouration of the skin and is caused by high levels of β-carotene. Beta carotenaemia has frequently been associated with the development of menstrual disturbances in women but no causal link has been established.Case report: We herein present a case of a 15 year old Caucasian girl (otherwise well, BMI 24) who presented with aurantiasis cutis together with a four...

Background: Over the last two decades, supported by two metanalyses, the low-dose Synacthen Test (LDST) has gained in popularity, with many believing it to be more sensitive than the supra-physiological Standard (250 microgram) Short Synacthen Test (SSST). The literature reveals lack of consensus about its specific clinical applications, what is considered “low-dose” and how that dose is made up.Methods: To ascertain current UK practice,...

Salt solutions are routinely used in salt losing conditions like congenital adrenal hyperplasia, pseudohypoaldosteronism, cystic fibrosis and polyuric salt wasting kidney disease. Problems with administration (of a liquid to an increasingly solid diet), compliance and the behavioural impact of altering food preferences abound.We describe the case of a 2-year-old boy DA with aldosterone synthetase deficiency who is currently on fludrocortisone and sodium ...

A 35 year old woman presented with severe bone pain, body aches, progressive deformities of chest, skull and swelling of hands for two years. Past history included bilateral total hip replacement for fracture of neck of femur one year back. She was normotensive and normo-glycemic. Her dietary consumption of calcium and vitamin D and sun-exposure was adequate. Investigation revealed haemoglobin 5.4gram per deciliter. Serum calcium and serum iPTH levels were elevated at 3.6milim...

The European Academy of Andrology (EAA) published the first consensus guideline on KS in 2021 to standardise the care provided to patients with Klinefelter Syndrome (KS) in various developmental stages. We conducted an online national survey advertised in the British Society of Paediatric Endocrinology and Diabetes newsletter (BSPED) to evaluate clinical care provided to children and young people (CYP) with KS. The survey ran over a period of 4 months (January-April 2023). We ...

Background: Aromatase inhibitors block the aromatization of androgens to oestrogen. They are used off-label to delay bone maturation where bone age (BA) is advanced secondary to androgen excess. Side effects include hair loss, headache, decreased appetite, bone pain, drowsiness, and osteoporosis. There is limited data on Anastrozole’s safety in paediatrics. We report our experience (Anastrozole 1 mg OD) in 4 pre-pubertal boys with advanced BA.<p class...

Introduction: Structured education is an integral part of type one diabetes care for children and young people and their families, delivered at diagnosis. There is currently no validated curriculum or outcome measures of diabetes education in the UK. We evaluated the outcome of using the diabetes education app (deapp), using flipped learning against historical practice, to determine if it conferred any benefit in our single centre.Methods: Two cohorts of...

Introduction: Congenital hypothyroidism (CHT) is a significant health issue, responsible for serious long-term consequences if left untreated. From experience we know that early identification and treatment can prevent long-term neurodevelopmental sequelae of the condition. We audited our management of babies born with CHT between the years of 2012 and 2019 to evaluate our care against best practice.Methods: Babies born with CHT in Nottingham between 201...

Background: Recent NPDA 15/16 data shows that nationally 17.9% of children and young people (CYP) with type 1 diabetes mellitus (T1DM) have a HbA1c level >80 mol/mol (7.9% at Nottingham Children’s Hospital (NCH)), putting them at increased risk of diabetic ketoacidosis and long-term sequelae. To support patients on the high HbA1c pathway (>80 mmol/mol) at NCH, a 5-day inpatient stay for stabilisation is offered. The process involves daily re-education from paediat...