Searchable abstracts of presentations at key conferences in endocrinology
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Society for Endocrinology BES 2016

Brighton, UK
07 Nov 2016 - 09 Nov 2016

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07 Nov 2016 to 09 Nov 2016 Brighton, UK Further information

Featured Clinical Cases

Featured Clinical Cases

ea0044cc1 | Featured Clinical Cases | SFEBES2016

Life threatening cardiac arrhythmias following treatment of newly diagnosed Addison’s disease

Rochester J , Aflorei ED , Roberts A , Wilton A

A 36 year old man presented with collapse following weakness and vomiting for 2 weeks and 7 kg weight loss over 6 months. Thyroxine 50 mcg OD had been commenced 2 months earlier for hypothyroidism (Free T4 9.4 pmol/l, TSH 8.4 mU/l and anti-TPO antibodies 103.1 IU/mL). Examination found cachexia (weight 53.6 Kg), vitiligo, sinus tachycardia 110 bpm and BP 90/66 mmHg. Investigations: sodium 115 mmol/l, potassium 4.4 mmol/l, urea 9.9 mmol/l, creatinine 81 μmol/l, cortisol 13...

ea0044cc2 | Featured Clinical Cases | SFEBES2016

More than just Diabetes Insipidus

Wu Xilin , Choo-Kang Alan

A 54-year-old gentleman presented with increased urinary frequency, urgency and nocturia. His GP treated him for benign prostatic hypertrophy with tamsulosin. When this failed to alleviate his symptoms he was referred to urology. Investigations revealed he was drinking in excess of 6 litres of fluid per day, hence he was referred to endocrinology.Aside from a 6-month history of polyuria and polydipsia, there was no history of previous head injury, headac...

ea0044cc3 | Featured Clinical Cases | SFEBES2016

Tremelimumab-induced Graves’ disease

Gan Earn H , Plummer Ruth , Pearce Simon , Perros Petros

Ipilimumab and tremelimumab are monoclonal antibodies directed against the extracellular domain of cytotoxic T-lymphocyte-associated antigen 4 (CTLA4) and have been used as the immunotherapies against immune checkpoints that suppress T cell activation. These anti-CTLA4 antibody-based therapies are effective in treating various cancers including metastatic melanoma. However, a few immune-related adverse events including hypophysitis and transient thyroiditis have been reported....

ea0044cc4 | Featured Clinical Cases | SFEBES2016

Asymptomatic elevated PTH level due to immunoassay interference resulting from Macro-PTH: a case report

Prodan Paul , Nandoshvili Eka , Webster Craig , Shakher Jayadave

Introduction: Immunoassays are important tools in the diagnosis and management of disease; however, they are not free from interference by cross-reacting substances. Discordant clinical evidence and laboratory results raised suspicion of interference in a patient with persistently raised parathyroid hormone.Case Presentation: Case description: A 56-year-old Caucasian female previously diagnosed with hypothyroidism consistently demonstrated elevated PTH l...

ea0044cc5 | Featured Clinical Cases | SFEBES2016

A case report of a symptomatic osteopoikilosis patient caused by novel mutation in LEMD3

Tofeec Khaled , Soran Handrean , Mughal Zulf , Selby Peter

17 years lady presented with a fall onto her left knee, following which she continued to have severe persistent pain and occasionally her knee gave away with intermittent “locking”. A referral to metabolic bone disease clinic was made as the left knee X-ray showed discreet spherical areas of increased radiological density with normal CT and MRI scans of the left knee. Physical examination was unremarkable. Her brother was under investigation for lumps under skin. Mor...

ea0044cc6 | Featured Clinical Cases | SFEBES2016

Vitamin D-Dependent Rickets Type I caused by a Novel Frameshift Mutation of the 25-hydroxyvitamin D1-alpha-hydroxylase gene (CYP27B1)

Stokes Victoria , Gorvin Caroline , Shine Brian , Thakker Rajesh

Vitamin D-dependent rickets type-1 (VDDR1) is an autosomal recessive disorder characterised by onset of rickets by 2 years of age, accompanied by poor growth and hypotonia, muscle weakness, seizures, hypocalcaemia with secondary hyperparathyroidism, hypophosphataemia and normal plasma 25-hydroxyvitamin D (25(OH2)D) concentration that distinguishes VDDR1 from vitamin D deficient rickets. VDDR1 is caused by loss-of-function mutations of the 25-hydroxyvitamin D 1-alpha...

ea0044cc7 | Featured Clinical Cases | SFEBES2016

Spurious diagnosis of phaeochromocytoma due to drug induced symptoms and abnormal investigation results

Preece R , Rochester J , Aflorei E.D , Wilton A

A 70 year old female was referred with a putative diagnosis of phaeochromocytoma. She was awaiting hiatus hernia surgery; the diagnosis was based on a history of hypertension and a persistent sinus tachycardia of 110 bpm. Investigations had shown modest elevation of 24 hour normetadrenaline at 4.71 to 4.98 micromol/24 hr (<4.4) on 3 occasions and plasma normetadrenaline of 2398 and 2504 pmol/l (<1180). Review of her medical records confirmed that the onset of tachycard...

ea0044cc8 | Featured Clinical Cases | SFEBES2016

Diffuse Idiopathic Pulmonary Neuroendocrine cell hyperplasia (DIPNECH): two unusual cases of cyclical ectopic adrenocorticotrophic hormone secretion

Ali Sarah N , Moriarty Maura , Yang Lisa , Anderson Jonathan , Todd Jeannie F

We present two uncommon cases of cyclical ectopic ACTH-dependent Cushing’s syndrome due to diffuse idiopathic pulmonary neuroendocrine tumour (DIPNECH).Case 1: 62 yr lady presented with rapid onset of muscle weakness, diabetes and hypokalaemia. Random cortisol:1710 nmol/l, ACTH level:610 ng/l. LDDST: failure to suppress cortisol levels. Imaging: normal pituitary gland and bilateral adrenal hyperplasia, consistent with ACTH dependent Cushing’s s...

ea0044cc9 | Featured Clinical Cases | SFEBES2016

Successful treatment of primary aldosteronism with partial adrenalectomy, facilitated by the use of 11C-Metomidate PET/CT

Bashari Waiel , Powlson Andrew , Koulouri Olympia , Quill Denis , Brown Morris , Cheow Heok , Dennedy Michael Conall , Gurnell Mark

Background: Primary aldosteronism (PA) is responsible for 5-10% of all cases of HTN. The current gold standard test for determining the side of aldosterone hypersecretion is adrenal vein sampling (AVS). 11C-Metomidate PET/CT (METO-PET) has recently emerged as a potential non-invasive alternative to AVS. As 11C-Metomidate is concentrated within ‘hyperfunctioning’ nodules, METO-PET potentially not only identifies the side, but the exact site of al...

ea0044cc10 | Featured Clinical Cases | SFEBES2016

ACTH-dependent Cushing’s syndrome unmasked following transphenoidal surgery for Acromegaly – the rare coexistence of dual endocrinopathies

Avari Parizad , Sharma Aditi , Barnor Quirinius , Galliford Thomas , Ogilvie Arla , Kong Chantal

Coexistence of Acromegaly with Cushing’s syndrome in the same individual is rare. We herein describe a case of a 59-year-old woman, whose hypercortisolism was unmasked following transphenoidal surgery for Acromegaly.She presented to the Endocrine Clinic in 2006 with acromegalic features and MRI revealing a pituitary macroadenoma 20×18×18 mm. Repeat dynamic evaluation showed inadequate GH suppression (initially normal), raising the possibil...