Endocrine Abstracts

The VHL gene is a tumor suppressor gene located on chromosome 3p25.3. Mutations in this gene prevent production of the VHL protein and as a result, cells grow and divide uncontrollably to form the tumors and cysts. Germline VHL gene mutations predispose to a variety of tumors, most commonly retinal and cerebellar haemangioblastomas, renal cell carcinoma and phaeochromocytoma. Papillary cystadenomas of the epidididymis are seen in 10–26% of men are rarely...

Case history: A 46-year-old headmaster with a 10-year history of hypertension presented with a BP of 164/116 mmHg on four antihypertensive drugs. He had occasional headaches, chest ‘aches’, and described one syncopal episode after an ‘exhausting rowing session’. A low plasma renin (routinely measured in our resistant hypertensives) and 26/20 mmHg fall in BP on changing hydrochlorothiazide to amiloride, led to investigations for primary aldosteronism (PA).</...

Introduction: Moderate hyperprolactinaemia occurring in a patient with a normal pituitary MRI, assuming macroprolactin and stress are excluded, is generally considered to be due to a lesion below the level of detection of the MRI scanner. Most patients with mild-moderate hyperprolactinaemia and a normal MRI respond to dopamine agonist therapy. We describe a patient who had prolactin elevation typical of a prolactin-secreting macroadenoma, but with a normal MRI, and in whom the...

Case history: We report a 38 year-old Caucasian woman with classical salt wasting congenital adrenal hyperplasia (CAH) who increasingly omitted medication in adolescence and eventually spent over 10 years without any adrenal replacement therapy or adrenal crises and became lost to follow up. When seen, she complained of increasing abdominal girth, fatigue, hirsutism, had type 2 diabetes, had never had a romantic/sexual relationship and was amenorrhoeic. Examination revealed ab...

Case history: Fifty-eight years old gentleman referred to endocrinology with erectile dysfunction and decreased libido for 1 year. He denied headache or visual disturbance. His past medical history include ulcerative colitis (1998), mild asthma, anterior scleritis (2003), previous DVT (1994), Episode of steroid induced psychosis in past. He is on levothyroxine, sulfasalazine, calcium /vitamin D and long term prednisolone 4 mg (9 years). Examination reveal testicular volume of ...

Case history: Pre pregnancy: A 31-year-old female with no family history of thyroid disease presented with clinical hyperthyroidism and large goitre with bruit. Graves’ Disease was confirmed: TSH <0.01 (0.35–5.0 mU/l), free T4 53.4 (9.0–21.0 pmol/l), TSH Receptor Antibodies (TRAB) >40 (0–1.9 U/l), TPO 32.2 (<6 U/ml). She started on carbimazole (CBZ: 20 mg BD) and propranolol. She then switched to propylthiouracil (PTU: 150 mg BD) at 2 months due...

Case history: We have previously presented the case of a 31 year lady presenting with a seizure following exercise with a blood sugar of 1.4 mmol/l on a background of an 8 month history of episodic slurred speech, blurred vision and hunger relieved by eating in 2011.Investigations: Investigations confirmed an insulinoma and imaging, including Ga68 DOTATATE PET CT identified a lesion in the tail of the pancreas with multiple liver metastases. M...

We present a 32-year-old woman with recurrent hypoglycaemic episodes and a history of juvenile onset SLE. Over months, she experienced severe hypoglycaemic episodes with unconsciousness, occuring mainly in the early morning resulting in several hospital admissions. The patient had to take precautions like eating snacks between meals and before going to bed, and even setting an alarm clock to eat a bowl of porridge at 0200 h. She was of normal weight, did not present with any h...

Case: A 36-year-old gentleman presented with two month history of severe headaches, vomiting, polyuria and polydipsia. He reported profound episodic sweating especially on exertion and gradual weight loss. He was hypertensive (220/110 mmHg) at presentation. He had no palpitations, anxiety, dizziness, flushing or pallor. He had no diarrhoea or abdominal pain. His only family history was of Type 2 diabetes mellitus.Investigation: Biochemical investigations...

Case history: A 69-year-old Caucasian male presented with persistent abdominal pain and was found to have a large right adrenal mass on CT. Interestingly his family history revealed that his daughter had been treated for Cushing’s disease. He was normotensive and denied classical symptoms of catecholamine excess. He had exertional dyspnoea in keeping with COPD. Subsequent tests were consistent with a secretory phaeochromocytoma and urine normetadrenaline 85,671 nmol/day (...