Endocrine Abstracts

Introduction: Pituitary apoplexy is an endocrinological emergency that can be life-threatening if treatment is delayed. Apoplexy occurs either due to haemorrhage or infarction of a pituitary tumour.Case History: A 19-year-old male, presented with a sudden severe headache and visual disturbances. The examination was normal with stable haemodynamic parameters and tanner staging 5. An urgent MRI pituitary revealed a haemorrhagic pituitary macroadenoma compr...

Introduction: Graves thyrotoxicosis can be life-threatening if uncontrolled. Resistant thyrotoxicosis is not uncommon and may require urgent intervention. We present a case with severe refractory thyrotoxicosis which required urgent total thyroidectomy following bridging plasma exchange.Case History: A 35-year-old male with Grave’s disease presented with persistent thyrotoxic symptoms despite medical management for 10 months. Clinically he was hyper...

A 58 year old male diagnosed with ‘Parkinson's Disease’ in 2016 following symptoms of Parkinsonism and a DaTscan, was admitted with seizures. He was given Benzodiazepines in the A&E which helped control the seizures. A CT scan of his head revealed Bilateral Basal Ganglia calcification. This was the first time he had seizures, but he did complain of having on and off facial twitching and muscle spasms. There was no history of trauma to the head, fevers, or change ...

Introduction: Cranial Diabetes Insipidus (DI) presenting in children beyond infancy is most commonly associated with sellar/suprasellar tumours and severe traumatic brain injury or haemorrhage. Less frequent causes may be genetic or idiopathic. Exceptional cases may be associated with minor head injury. We present a case of post-concussive head injury with DI, and anterior pituitary hormone deficits.Case: 15 year old malesustained a concussive head injur...

Case history: A 68 year old woman was referred to Endocrinology with a history of vomiting, extreme fatigue of acute onset and non-specific visual changes. She had a history of primary hypothyroidism and an adenocarcinoma of the lung with bone metastases initially been treated with pemetrexed and cisplatin chemotherapy. The patient subsequently required palliative radiotherapy for metastatic spinal cord compression and was started on denosumab. Imaging shortly before her refer...

Background: Cystic fibrosis related diabetes (CFRD), a common complication of CF, contributes to increased morbidity and mortality and is a poor prognostic indicator. Whilst liver transplant is a well-established treatment for end stage liver disease (ESLD) in CF, there are few reports of simultaneous pancreatic transplant in the paediatric population. We report the nutritional and endocrine outcomes of two adolescent CF patients who underwent combined liver and pancreas trans...

A 60-year-old woman presented with 2 months of aching limbs and 2 weeks of nausea and a left sided neck mass. She was clinically euthyroid with a 5 cm non-tender left thyroid nodule. There was no cervical lymphadenopathy and the remainder of the examination was unremarkable. There was no family history of any endocrine disorder.Investigations showed serum TSH concentration 5.94 μ/l and serum free T4 concentration 12 pmol/l. Thyroid peroxi...

Over the last 10 years there have been significant advances in stem cell transplantation (SCT) in adults for haematological malignancies leading to improved survival. Conditioning regimes prior to transplantation often utilise high dose chemotherapy and/or total body irradiation (TBI). Significant endocrinopathies have been reported amongst children undergoing SCT. We report the effect of SCT during adult life on endocrine function.Basal hormone levels w...

Background: SOX2 is a member of the SOX (SRY-related HMG box) family of transcription factors, and shares homology with SOX1 and SOX3 which are members of the SOXB1 subfamily. Heterozygous, de novo, loss-of-function mutations in SOX2 were initially reported in patients with bilateral anophthalmia/microphthalmia, developmental delay and male genital tract abnormalities, with variable manifestations including defects of the corpus callosum, oes...

Adrenal incidentalomas are tumours of the adrenal incidentally discovered during evaluation for non-adrenal disease. The National Institute of Health consensus definition usually excludes lesions found during evaluation for malignancy. We present a case of an initially non-secretory adrenal incidentaloma that progressively increased in size over 6 years and became hormonally active.A 78-year-old hypertensive male was found to have a right adrenal mass du...