Endocrine Abstracts

The increased testing for key genes associated with familial paraganglioma syndromes has, in turn, led to a rapid increase in the identification of asymptomatic carriers through cascade screening. Mutations in SDH subunits B and D account for approximately 50% of the ‘gene positive’ index case results, yet there remains significant controversy and variability with respect to the screening strategies for their asymptomatic relatives. For SDHD at risk carriers, surveil...

The increased testing for key genes associated with familial paraganglioma syndromes has, in turn, led to a rapid increase in the identification of asymptomatic carriers through cascade screening. Mutations in SDH subunits B and D account for approximately 50% of the ‘gene positive’ index case results, yet there remains significant controversy and variability with respect to the screening strategies for their asymptomatic relatives. For SDHD at risk carriers, surveil...

Abstract unavailable....

We present a 38-year-old patient who had adrenal insufficiency following laparoscopic removal of 3.2 cm cortisol-secreting right adrenal tumour. His biopsy showed adrenocortical adenoma in keeping with Cushing’s syndrome. He had a history of hypertension with suboptimal control despite being on 3 anti-hypertensives. His early morning cortisol (by GP to investigate secondary causes) were elevated and this prompted Endocrine referral. Clinical history and examination were ...

A fit and well 41-year-old lady who was 10-days post-partum was referred to our Endocrine team for hyponatraemia (serum sodium 117 mmol/l). She had a spontaneous vaginal delivery but had 1.5L blood loss due to difficulty with placenta removal. Her baby is well with no medical issues. During pregnancy, she was started on aspirin due to maternal age and had diet-controlled gestational diabetes. She presented to hospital with extreme lethargy. She also reported lightheadedness a...

Case history: A 32 year old male diagnosed with McCune-Albright syndrome aged 18, presented with a painful left knee and difficulty in walking, limiting his usual activities. He was diagnosed with Acromegaly (IGF-1 451 ng/ml, mean GH 2.71 ug/L) aged 26 years and had multiple sites of fibrous dysplasia, causing bone pain. On examination he had tall stature and features of acromegaly with normal visual fields and palpable masses behind his left knee and upper thigh.<p class=...

Case history: A 54 year-old gentleman was transferred as an inpatient from another centre for investigation and management of refractory hypoglycaemia following a revision gastric bypass. He was requiring a continuous infusion of 20% dextrose on transfer to maintain normoglycaemia. He had a complex bariatric surgical history dating back 7 years. His initial procedure had been a sleeve gastrectomy that was subsequently converted to a gastric bypass which had then been reversed ...

Case History: A 68-year-old gentleman was admitted to the hospital following a history of weight loss, lethargy, tiredness for about 6 months. His past history includes hiatus hernia, esophagitis and kidney stones. He reported taking over the counter vitamin D (60,000 IU daily) for more than 2 years. He was not on any other regular medications.Investigations: His initial investigations showed acute kidney injury with severe PTH independent hypercalcaemia...

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: 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 (...