Searchable abstracts of presentations at key conferences in endocrinology

ea0050ep075 | Neuroendocrinology and Pituitary | SFEBES2017

A rare case of SDHB mutation in a male individual with pituitary adenoma, and paraganglioma/phaeochromocytoma syndrome

Kounnis Valentinos , ElMuhtadi Saeed ElMuhtadi , Pal Aparna , Tadman Mike , Jafar-Mohammadi Bahram

Introduction: Herein we provide clinical, biochemical, histological and radiological evidence of a rare case of a male patient who was diagnosed with pituitary macroadenoma (prolactinoma), phaeochromocytoma and a lung typical-carcinoid tumour on a background of SDH gene mutation encoding the succinate dehydrogenase enzyme.Presentation of case: A 42 year old male individual, was initially diagnosed with a pi...

ea0050ep076 | Neuroendocrinology and Pituitary | SFEBES2017

Secretory Head and Neck Paraganglioma – A rare entity

Saeed Tamar , Tadman Michael , Pal Aparna , McKeith Samuel , Jafar-Mohammadi Bahram

We report a case of 43 year old gentleman who had surgery in 1998 for left glomus typanicum, leaving him with complete left lower facial nerve palsy. Incidentally he was noted to have had labile blood pressure during this surgery. He had gradual growth of residual tumour which required fractionated radiotherapy in 2012. He has had ongoing problems with headaches with profuse left-sided rhinorrhoea and intermittent episodes of sweating. In...

ea0065oc3.5 | Bone and Calcium | SFEBES2019

Mutational analysis of a patient with familial hypocalciuric hypercalcaemia identifies a novel p.Ser182Cys mutation, which is predicted to disrupt the calcium sensing receptor (CaSR) extracellular domain

Healy Ultan , Olesen Mie Kronborg , Jafar-Mohammadi Bahram , Hannan Fadil M , Thakker Rajesh V

Familial hypocalciuric hypercalcaemia (FHH) is an inherited disorder of calcium homeostasis, which is caused by germline loss-of-function mutations of the calcium-sensing receptor (CaSR) in ˜70% of cases. We report a 22 year old woman who was referred with asymptomatic hypercalcaemia. Biochemical investigations revealed hypercalcaemia on 3 of 4 occasions with adjusted serum calcium ranging from 2.59–2.80 mmol/l (normal range 2.20–2.60 mmol/l). Parathyroid hormon...

ea0065p155 | Endocrine Neoplasia and Endocrine Consequences of Living with and Beyond Cancer | SFEBES2019

Carney’s triad due to SDHA gene mutation

Arabi Noon , Healy Ultan , Pal Aparna , Jafar-Mohammadi Bahram , May Christine

Carney’s triad; a diagnosis based on the presence of three associated neoplasms; epithelioid leiomyosarcoma, pulmonary chondroma, and extra-adrenal paraganglioma remains a rare diagnosis. Here we report a 52-year-old female investigated for chronic cough. Initial chest X-ray demonstrated calcified masses, and CT thorax confirmed a left pulmonary lesion measuring 41 mm in diameter with 3 adjacent smaller nodules up to 20 mm. A chondroid pattern o...

ea0065p291 | Neuroendocrinology | SFEBES2019

ACTH producing pancreatic NET

Ashraf Muhammad Masood , May Christine , Anguelova Lia , Tadman Mike , Khan Shahab , Mihai Radu , Jafar-Mohammadi Bahram

We present the case of a 64 year old woman who presented with one month history of tiredness and 8 kg weight loss. Severe hypokalemia (2.2 mmol/l) was identified by the GP. Clinically she appeared mildly Cushingoid. Biochemical investigations showed a random cortisol significantly elevated at 2170 nmol/l, 24-hour urinary cortisol was 15 700 nmol/l(0−135). ACTH level was elevated at 7400 ng/l(0−40). The low dose dexamethasone suppression test demonstrated failure to...

ea0044p25 | Adrenal and Steroids | SFEBES2016

Random spot urinary metanephrines compared to 24-h collection in the diagnosis and follow up of phaeochromocytomas and paragangliomas: preliminary results

Sbardella Emilia , Isidori Andrea M , Shine Brian , Jafar-Mohammadi Bahram , Grossman Ashley B

Introduction: Phaeochromocytomas and paragangliomas (PPGLs) are rare tumours with high morbidity. The majority are benign and surgically curable, but genetic testing suggests that many are associated with germline mutations, and careful long-term follow-up of patients and their family members is important. Regular biochemical screening with plasma or urinary metanephrines (uMetanephrines) is essential, but currently 24-h collections of uMetanephrines is cumbersome and inconven...

ea0044p149 | Neuroendocrinology and pituitary | SFEBES2016

Pituitary stalk thickening: use of an innovative MRI analysis to guide clinical management

Sbardella Emilia , Joseph Robin N , Jafar-Mohammadi Bahram , Isidori Andrea M , Cudlip Simon , Grossman Ashley B

Context: Disease processes that affect the pituitary stalk are broad, ranging from indolent lesions requiring simple observation to severe lesions with significant implications. Diagnosis and management of these lesions remains unclear.Objective: The aim of this study was to assess the clinical presentation, biochemical and pathology characteristics of pituitary stalk thickening lesions and their association with specific MRI features in order to provide...

ea0044ep23 | (1) | SFEBES2016

Idiopathic Infantile Hypercalcaemia (IHH) caused by a missense mutation of 1,25-dihydroxyvitamin D2 24-hydroxylase (CYP24A1)

Stokes Victoria , Gorvin Caroline , Jafar-Mohammadi Bahram , Ryan Fiona , Thakker Rajesh

Idiopathic infantile hypercalcaemia (IHH) is an autosomal recessive disorder typically presenting in the first few months of life with failure to thrive, vomiting, dehydration, and nephrocalcinosis with hypercalcaemia and low or undetectable parathyroid hormone (PTH) concentrations. IHH is caused by loss-of-function mutations of the cytochrome P450 family 24 subfamily A member 1 (CYP24A1) gene that encodes the 514 amino acid protein 1,25-dihydroxyvitamin D3...

ea0059p133 | Neuroendocrinology and pituitary | SFEBES2018

Characterisation of paediatric craniopharyngiomas in a single centre study – analysis of factors affecting recurrence rates

Rogers Miranda , Davies Dawn-Marie , Halliday Jane , Pal Aparna , Marland Anne , Foord Tina , Jafar-Mohammadi Bahram

Craniopharyngioma is a rare benign pituitary tumour that occurs in children and adults. Recurrence rates are high (up to 90%) but factors underpinning this are unclear, particularly in cases of childhood onset. We aimed to investigate factors that may influence subsequent recurrence rates in childhood onset craniopharyngiomas in patients attending our centre. A retrospective study of patients followed up at the Oxford Late Effects of Childhood Cancer service was conducted. Pat...

ea0059p136 | Neuroendocrinology and pituitary | SFEBES2018

Recovery of the hypothalamic-pituitary-adrenal and thyroid axes up to 12 months following trans-sphenoidal adenomectomy

Gunatilake Sonali , Pofi Riccardo , Macgregor Victoria , Cudlip Simon , Jafar-Mohammadi Bahram , Tomlinson Jeremy , Pal Aparna

Background: Hypopituitarism is a potential complication of trans-sphenoidal adenomectomy (TSA). Recovery of pituitary function can occur, and reassessment is required to avoid unnecessary hormonal replacement. However, frequency of re-testing is variable across centres. Aim of this study was to determine recovery rates and time to recovery of hypothalamo-pituitary adrenal (HPA) and thyroid axis after TSA.Methods: We performed a single-centre, retrospecti...