Searchable abstracts of presentations at key conferences in endocrinology

ea0003p37 | Clinical Case Reports | BES2002

Xanthoma Disseminatum: A rare cause of hypopituitarism

Ray S , Belchetz P

Xanthoma Disseminatum: A rare cause of hypopituitarismS Ray and PE Belchetz; The General Infirmary at Leeds, Leeds, UK.Xanthoma disseminatum (XD) is a rare, benign, normo-lipaemic condition characterised by non- Langerhan's cell histiocytosis which usually effects male children or young adults. Patients develop nodular or infiltrating papules that are distributed along flexural areas and mucosal surfaces. Meningeal infiltration ca...

ea0003p43 | Clinical Case Reports | BES2002

A patient with Turner's syndrome, type 2 diabetes and primary biliary cirrhosis

Ray S , Gilbey S , Mansfield M

Turner's syndrome (TS) is the commonest sex chromosome abnormality in females. It is associated with impaired glucose tolerance and hepatic dysfunction. However a medline search for primary biliary cirrhosis (PBC) and TS shows only one previously reported case (Spanish literature).A 36 year old patient was referred to the diabetes center with poorly controlled type 2 diabetes on gliclazide 80 mgs daily (HbA1C 11.2%) and elevated alkaline phosphatase (AKP...

ea0019p309 | Steroids | SFEBES2009

Corticosteroid-binding globulin (CBG) deficiency caused by a novel mutation in exon 3

Perogamvros I , Henley D , Hadfield K , Underhill C , Newman W , Hammond G , Lightman S , Ray D , Trainer P

Inherited CBG deficiencies are rarely reported and only 3 causative mutations in 4 families have been described. The objective of this study was to investigate a family with potential CBG deficiency.The index case, a 29-year-old female of Pakistani origin with consanguineous parents, presented with hirsutism and a slightly elevated 17-OHP. In a subsequent Short Synacthen Test (SST) 17-OHP was normal but serum cortisol (SerC) values were abnormal (case 1 ...