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Background: A 52-y-old lady (Mrs M) presented with a 10-day history of progressive generalised weakness, dysarthria and un-coordination. 26 y ago, she had cervical carcinoma, requiring a hysterectomy, oophorectomy and radiotherapy. This led to a vesicovaginal fistula, requiring a cystectomy and ureterosigmoidostomy. She is known to have osteoporosis. Medications: calfovit D3 one/d (started 5 days prior to admission), risedronate, lansoprazole. She had HRT until 50 y. Examinati...

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ea0015oc1 | Young Endocrinologist prize session | SFEBES2008

Clinical manifestations of familial paraganglioma and phaeochromocytomas in succinate dehydrogenase B gene mutation carriers

Srirangalingam Umasuthan , Walker Lisa , Khoo Bernard , MacDonald Fiona , Gardner Daphne , Wilkin Terence J , Skelly Robert H , George Emad , Spooner David , Monson John P , Grossman Ashley B , Akker Scott A , Pollard Patrick J , Plowman Nick , Avril Norbert , Berney Dan M , Burrin Jacky M , Reznek Rodney , Ajith Kumar VK , Maher Eamonn R , Chew Shern L

Background: Phaeochromocytomas and paragangliomas are familial in up to 25% of cases and can result from succinate dehydrogenase (SDH) gene mutations.Objective: To describe the clinical manifestations of subjects with SDH-B gene mutations.Design: Retrospective case series.Patients: Thirty-two subjects with SDH-B gene mutations followed-up between 1975 and 2007. Mean follow-up of 5.8 years (S.D....

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Endocrine Abstracts

Hyperchloraemic metabolic acidosis with hypokalaemia and osteomalacia

Clinical manifestations of familial paraganglioma and phaeochromocytomas in succinate dehydrogenase B gene mutation carriers

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