Searchable abstracts of presentations at key conferences in endocrinology

ea0013p287 | Steroids | SFEBES2007

Unusually mild phenotypic presentation in a family with CYP17A1 deficiency detected by urinary steroid profiling

Arun CS , Ivison HE , Taylor Norman , Arlt Wiebke , Cheetham Tim

The human CYP17A1 enzyme exerts two activities, 17a-hydroxylase and 17,20 lyase, catalysing key steps in human adrenal steroid biosynthesis. An in frame deletion of 3 bp in exon 1 of the CYP17A1 gene, resulting in the loss of phenylalanine in position 53 (F53del), is one of the first CYP17A1 mutations described (JBC 1989, 264:18076). Reported patients have invariably presented with severe hypokalaemic hypertension, reflecting 17α-hydoxylase deficiency, and s...

ea0012oc21 | Pituitary, ovary and steroids | SFE2006

Macroprolactinoma with progressive resistance to high-dose cabergoline

Arun CS , Mitra Dip , Ball Steve , Hill John , Lewis Joanna , Quinton Richard

IntroductionTrue resistance to cabergoline in patients with hyperprolactinaemia has only rarely been reported. We describe a patient with macroprolactinoma who initially responded to cabergoline, but then developed a progressive increase in PRL levels.Clinical caseA 78-year-old male presenting with headache and left temporal hemianopia was found to have a macroprolactinoma with suprasellar/cavernous sinus ext...