Endocrine Abstracts

Clinical Case: A 51 year old woman of south Asian descent was referred by her GP to outpatient endocrine clinic for assistance with her mixed hyperlipidaemia (Cholesterol 9.5 mmol/L, HDL Cholesterol 1.03 mmol/L Triglycerides 6.7 mmol/L). Her past medical history included a previous hemithyroidectomy for removal of a thyroid nodule (histologically benign) and obesity.The patient’s symptoms were of weight gain (5 kg in 18 months...

Clinical Case: A 51 year old woman of south Asian descent was referred by her GP to outpatient endocrine clinic for assistance with her mixed hyperlipidaemia (Cholesterol 9.5 mmol/L, HDL Cholesterol 1.03 mmol/L Triglycerides 6.7 mmol/L). Her past medical history included a previous hemithyroidectomy for removal of a thyroid nodule (histologically benign) and obesity.The patient’s symptoms were of weight gain (5 kg in 18 months...

Background: Functional hypothalamic amenorrhoea (FHA) is a common cause of secondary amenorrhoea and is related to a combination of weight-loss, exercise and psychological stressors. These factors lead to suppression of pulsatile GnRH secretion. Diminished LH and FSH concentrations result in a hypoestrogenic state. We present an archetypal case of FHA that clearly demonstrates the ‘hypothalamic set-point’ for the body composition of a young woman below which...

Introduction: Hyperprolactinaemia, amenorrhoea with ophthalmoplegia and radiological abnormalities in suprasellar region usually suggest a pituitary tumour. We present a case of carotico-cavernous sinus fistula causing pituitary engorgement (CCF) mimicking pituitary tumour.Case history: 45 year old female with background history of long term amenorrhea, migraine admitted under Neurology with worsening headache, nausea, vomiting and blurred vision. There ...

Background: Existing biomarkers have limited ability to discriminate indolent non-functioning pituitary adenomas (NFPAs) from those with a propensity to recur following primary surgery. Radiomics, the extraction of quantitative data from medical imaging, is increasingly recognised as a tool to augment clinical decision making.Methods: 39 patients who underwent primary trans-sphenoidal surgery for an NFPA between January 2007 and April 2017, were enrolled...

Background: Sporadic non-functioning pituitary adenomas (NFPAs) are described as having quiet mutational landscapes. Genes with recurrent somatic alterations have not been identified by previous studies examining heterogeneous pituitary tumour populations. Existing biomarkers have limited ability to discriminate NFPAs with a predisposition for regrowth from those that will follow a more indolent course after primary surgery. We undertook somatic sequencing, in an enriched coho...

Background: Clinically relevant pituitary adenomas (Pit PA) affect approximately 1:1200 of the general population, and may manifest with hormone hypersecretion, hypopituitarism and compression of the visual pathways. Primary aldosteronism (Adr PA) is now recognised to account for 5–14% of all cases of hypertension and is associated with excess morbidity when compared with primary hypertension. Here, we report a patient who was noted to have a history suggestive of Adr PA ...

Section 1&2: Case history and investigations: We report the case of a 52-year-old man with recurrent immunodeficiency-related Burkitt’s lymphoma. 11 years following remission of his disease he presented with a firm lump in the parotid region. A biopsy showed histopathological evidence of a relapse. An 18F FDG PET was undertaken to determine the extent of the disease and response to R-DHAX chemotherapy. Areas of high uptake were identified in both sides of t...

Case history: Birt-Hogg-Dubé syndrome (BHDS) is a rare autosomal dominant disorder caused by heterozygous pathogenic variants in the FLCN gene encoding folliculin on chromosome 17p11, first described clinically in 1975. It is a ‘hamartomatous’ disorder usually manifesting with pulmonary cysts, benign cutaneous tumours and conferring a high risk of renal malignancy. A 43 year old man had a 34 x 22 mm right adrenal nodule discov...

Background: Evidence suggested a hypercoagulable state in the context of hyperthyroidism. We presented a case of cerebral venous thrombosis (CVT), a rare but potentially fatal complication of the already high mortality thyroid storm.Case History: A 16year old boy with Asperger’s syndrome was admitted with one-month history of non-specific illness and weight loss followed by 2 weeks of progressive frontal headaches and vomiting, weakness in left arm ...