Searchable abstracts of presentations at key conferences in endocrinology

ea0019p60 | Clinical practice/governance and case reports | SFEBES2009

Non-classic congenital adrenal hyperplasia and the 18 week wait

Woods D , Chandran S , Putta-Manohar S , Strey C

Targets such as the ‘18 week wait’ may help reduce diagnostic and treatment delay. However, we report two cases of supposed non-classic congenital adrenal hyperplasia (CAH) that perhaps highlight the benefit of time and hindsight as diagnostic tools.Case 1 A previously unknown 61-year-old contacted our department requesting alternatives to biphosphonate therapy. ‘Mild’ CAH had been diagnosed in 1974 on the basis of elevated urinary 17...

ea0012p31 | Clinical case reports/Governance | SFE2006

Severe hyponatremia and subsequent extra-pontine myelinolysis as a presentation of addison’s disease

Strey C , Gurnell M , Chatterjee K , Woods D , Simpson H

A 39 yr-old female with a past medical history of a non-metastatic ductal breast carcinoma, presented to hospital with a two-week history of vomiting and dizziness. Clinical examination was essentially normal apart from pigmentation of her mastectomy scar, palmar creases and buccal mucosa. Investigations revealed a plasma sodium (Na) 102 mmol/l, potassium 4.9 mmol/l, plasma osmolality 219 mOsm/kg, urine osmolality 173 mOsm/kg and urine Na 36 mmol/kg. She was treated with fluid...

ea0012oc13 | Placenta, bone and genetics | SFE2006

A kindred with Carney Complex due to a novel PRKAR1A gene mutation (c1067_1070 del AACG ins GCCCA)

Strey C , Randall J , Conroy S , Horvath A , Weissberg P , Berman L , Dixon A , Hoffman G , Cooper J , Firth H , Wood D , Simpson H , Chatterjee K , Stratakis C , Melvin A , Gurnell M

RP (a 60 yr-old male) was found to have multiple atrial myxomata, whilst being investigated for recurrent attacks of amaurosis fugax affecting his left eye. During the preceding twenty years he had undergone repeated resections of cutaneous tumours, which were reported as neurofibromata. A clinical diagnosis of Carney Complex (CNC) was made based on the presence of multiple cutaneous nodules and atrial myxomata. RP displayed mild acromegalic features, but no pigmentation abnor...