Endocrine Abstracts

Case History: 17 year old boy presented with a six week history of polyuria, polydipsia, headaches and easy fatiguability. Further investigations confirmed hypopituitarism with low early morning urine osmolality. MRI brain revealed soft tissue mass arising from tectal plate extending into cerebral aqueduct resulting in hydrocephalus with normal pituitary gland. Hydrocortisone, Levothyroxine and Desmopressin were started and urgent in-patient transfer to Neurosurgical unit in t...

Clinical Case: A 48-year old male presented with gradual onset of shortness of breath and atrial tachycardia requiring admission to intensive care unit. He was normally fit and well and did not have any history of thyroid/neck surgery. He was an ex-smoker who drank more than 40 units of alcohol per week.Investigations: Laboratory tests revealed low serum calcium of 1.03 mmol/l (2.15–2.6 mmol/l), high serum phosphate of 2.77 mmol/l (0.9–1.50 mmo...

Localized transitions in chromatin structure accompany nuclear receptor binding events in mammalian cells. These remodeling processes are critical to determine the binding landscape for steroid receptors (SRs) in cancer cells. Multiple reports indicate that steroid receptors (ER, GR, AR, PR) can regulate the binding patterns for each other, particularly during cancer progression. Elucidation of the mechanisms by which these ‘chromatin opening’ processes occur is cent...

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...

Section 1&2: Case history and investigations: Primary hyperparathyroidism is a rare condition in pregnancy. The occurrence rate is about 1 % and up to 80 % of the patients are asymptomatic. Clinical symptoms are nonspecific. However, severe maternal, foetal and neonatal complications including neonatal death have been reported in literature. 27 years old Asian lady presented to Emergency Department with abdominal pain in July 2019. She was found to have raised calcium at l...

Case history: We present a 44 year old female with persistent severe burning itchy rash over the face, scalp and upper body for ten months. She was reviewed in multiple dermatology clinics and a diagnosis of chronic urticaria was made. Despite various treatments including antihistamines and steroids, symptoms persisted affecting her quality of life significantly.Investigations and diagnosis: Routine blood investigations revealed mild persistent elevated ...

The glucocorticoid (GC) activating enzyme 11β-HSD1 is potently upregulated within macrophages and synovial fibroblasts of inflamed joints, where it increases therapeutic GC signalling and regulates their anti-inflammatory profiles. Whilst in vitro studies have demonstrated the importance of autocrine signalling in this context, the importance of paracrine signalling remains poorly defined. In this study, we examined the role of 11β-HSD1 in paracrine GC signalling bet...

Within the last 25 years more than 400 cases with suspected Familial Glucocorticoid Deficiency (FGD) have been referred to our centre for genetic testing. All cases had low or undetectable serum cortisol paired with an elevated plasma ACTH level. Our patient cohort comprises 352 families from 30 different nationalities and ranges from neonates to patients in their eighties. In 1993 the first gene defect, in MC2R, was discovered by candidate gene sequencing. Subsequent...

Case history: We present the case of a 70-year-old female who presented to the Emergency Department with sudden onset inter-scapular and upper abdominal pain. She had been experiencing intermittent headaches, palpitations and constipation which had not previously been investigated. The only past medical history was of hypothyroidism. She had no significant family history. There was a discrepancy in the blood pressure between both arms. Admission blood pressure was elevated at ...

Case history: We present the case of a 72-year-old lady who presented to the surgical team with sudden onset abdominal (flank) pain. On initial assessment, she was significantly hypertensive (213/110 mmHg) and tachycardic (pulse 98 bpm) but afebrile. She was not on any anticoagulation. On physical examination, her abdomen was tender with mild guarding and retroperitoneal tenderness.Investigations: Admission blood tests showed a normal haemoglobin (149 g/...