Endocrine Abstracts

Although ‘simple’ nutritional obesity is increasingly prevalent in the population some other types, such as those secondary to underlying medical conditions, remain relatively rare. These childhood disorders associated with obesity (such as hypothyroidism, Cushing’s syndrome, hypothalamic obesity, leptin deficiency, Prader-Willi Syndrome and melanocortin-4 receptor mutations) will be reviewed and consideration given to which patients should be investigated for t...

The trainee reps (Drs C Steele and R Besser) will provide an update on their activities on behalf of the trainees in the past year including:i) Update of the trainees’ section of the BSPED website.ii) Results of a recent survey of GRID trainees aimed to track training and for future workforce planning.iii) Ongoing activities (such as trainees’ section of the BSPED newsletter) and number of e-mail co...

Hypophosphataemic rickets with hypercalciuria (HHRH) is a rare autosomal-recessive condition, typically reported in consanguineous families. Milder forms, with less significant hypophosphataemia, present with hypercalciuria and nephrolithiasis, without bone disease and may be underdiagnosed. The underlying pathophysiology is due to mutations in the SLC34A3 gene, which encodes a sodium-phosphate transporter in the proximal renal tubules. Our patient, a 13-year-old Caucasian gir...

Introduction: Thyroid carcinoma in childhood is rare, but may present with distant metastases. We present an unexpected diagnosis of follicular–variant papillary thyroid carcinoma (FVPTC) presenting to acute services with cyanosis.Case report: An 11-year old boy presented to A&E with a two month history of cyanosis, worse with exertion, but not associated with respiratory distress or limitation of exercise tolerance. He had peripheral cyanosis, ...

Background: Obesity is a common sequel to tumours of the hypothalamic region and their treatment. Weight gain occurs at a rate faster than any expected age-related increase and despite treated hormone deficiencies.Methods: Retrospective review of patients with hypothalamic-pituitary tumours attending a large neuroendocrine clinic in UK.Results: Initial review in 2002 had identified 42 adults with tumours causing hypothalamic damage...

Background: The UK Newborn Screening Programme Centre Clinical Referral Standards and Guidelines for CHT (2013) define TSH cut-offs for screen positive (>20 mU/l) and borderline (>10 and <20 mU/l) results. In Manchester levels >8 and <20 mU/l are classified as borderline. This audit aims to assess whether adopting the national cut-off would result in babies with significant and permanent hypothyroid disease being missed.Patient popula...

Introduction: Pituitary adenomas are uncommon in childhood and adolescence and knowledge of long-term outcomes is sparse. We describe a large cohort of patients, now attending our adult clinic.Patients and methods: Retrospective review of patients aged ≤18 years at diagnosis of a pituitary adenoma.Results: There were 24 patients (18 female), mean age at diagnosis 15.6 (range 11–18) years, current age 25.5 (14–47). O...

Objective: Remission rates in young people with Graves’ hyperthyroidism are <25% after a 2-yr course of thionamide antithyroid drug (ATD). Immunomodulatory agents might improve outcome by facilitating immune tolerance. We explored whether rituximab (RTX) would increase remission rates when administered with a short course of ATD.Design: This was an open label multi-centre single arm phase 2 trial in newly presenting young people (12-20y) with Gr...

Introduction: Congenital hyperinsulinism (CHI) is a cause of severe hypoglycaemia due to insulin over-secretion. The medical management of CHI involves supplementary glucose, which combined with insulin excess, may be obesogenic. However, increased weight in CHI patients has not been reported. We have investigated if children with CHI increase in weight and if genetic or treatment factors influence the weight trajectory.Methods: Weights were measured and...