Endocrine Abstracts

Introduction:: Advances in MDT working in Disorders of Sexual Development (DSD) are supported by activities which call for national and international collaborations. In the EuroDSD programme we are collecting clinical data and performing functional studies to assess the pubertal outcome of PAIS patients raised male.Methods: Clinical information including birth phenotype, surgery, medication and pubertal outcome, from 16 post pubertal PAIS patients with k...

Introduction: Dopamine Agonists are important in the management of endocrine disorders such as acromegaly and hyperprolactinaemia. Recent studies have shown that Cabergoline used in high doses to treat Parkinson’s disease is associated with cardiac valve fibrosis.Methods: We identified patients on long term high-dose cabergoline for the management of acromegaly. The following data was analysed: demographic data, duration of treatment, cumulative dos...

A 63-year-old lady was admitted with a 10 day history of central abdominal pain associated with constipation and vomiting. She was diagnosed with myelodyplasia 11 years previously and required regular blood transfusions but was otherwise fit and well. On this presentation, she was apyrexial with a heart rate of 72 beats per minute and blood pressure of 170/74. Her abdomen was soft with mild periumbilical tenderness. Routine blood investigations showed haemoglobin of 10.2 g/dl ...

Introduction: Riedel’s thyroiditis is a rare disorder of unknown aetiology and may be seen isolated or as a part of multifocal fibrosclerosis. Multifocal fibrosclerosis involves two or more fibrotic disorders including Riedel’s thyroiditis, retroperitoneal fibrosis, sclerosing mediastinitis, retro-orbital pseudotumour and sclerosing cholangitis. We report a case of recurrent Riedel’s thyroiditis as part of multifocal fibrosclerosis presenting with a woody neck s...

Introduction: It is well known that struma ovarii, choriocarcinoma and follicular thyroid carcinoma can cause thyrotoxicosis. We report a rare case of a man with carcinomatosis presenting with acute thyrotoxicosis, unilateral proptosis and neck swelling.Case report: A 48-year-old man presented with a 2 weeks history of neck swelling, profuse sweating, heat intolerance, agitation, weight loss and mild unilateral proptosis. He was a smoker with a 20 years ...

Background: Long term remission in paediatric onset hyperthyroidism (HT) is low at 20–30% compared to 40–50% in adult onset HT. There are very few studies which report long-term follow-up of paediatric onset HT especially into adulthood and factors which can predict a need for definitive treatment in the long-term.Objectives: To evaluate the long-term outcome of paediatric onset HT with follow-up into adulthood and identify any early predictors...

Introduction: Our knowledge of the genomic background of neuroendocrine neoplasms (NENs) is rapidly expanding with more widespread use of sequencing technologies. Although known to be mutationally quiet compared to some other malignancies, many NENs harbour somatic copy number alterations (SCNAs), however the significance of these are unclear.Aims: We sought to identify SCNAs in a cohort of patients with NENs.Methods: Whole exome s...

Introduction: Adrenal schwannomas are rare but important causes of adrenal tumours which can often only be diagnosed histologically. We present an interesting case of an incidentally detected adrenal schwannoma.Case: A 67-year-old gentleman had an ultrasound imaging of the abdomen that incidentally revealed a large right adrenal mass prompting referral to the endocrinology service. His past medical history included myoca...

Introduction: Genomic testing is expected to become a part of mainstream testing in the not-too-distant future, with clinicians ordering genetics tests in the same way routine endocrine tests are requested today. Knowledge on how and what test to request needs to be gathered by a wide range of physicians. To support this, the Genomics Education Programme of NHS England is developing a resource for all endocrinologists to use in clinic as part it’s Genomic...

Case: This 23-year-old lady initially presented in 2013 with headaches, galactorrhoea and secondary amenorrhoea. Visual fields were normal to confrontation. Prolactin levels were elevated at 3028miu/l. MRI pituitary revealed a 14x13x15mm adenoma pushing the pituitary stalk posteriorly, and compressing the left side of the optic chiasm.Initial Management: Cabergoline was commenced (250mg twice weekly), with good clinical ...