Searchable abstracts of presentations at key conferences in endocrinology
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Society for Endocrinology National Clinical Cases 2021

ea0074oc1 | Oral Communications | SFENCC2021

A rare heterozygous IGFI variant causing postnatal growth failure and offering novel insights into IGF-I physiology

Cottrell Emily , Chatterjee Sumana , Hwa Vivian , Storr Helen L.

Section 1: Case history: A 10-year-old girl presented with significant postnatal growth failure. Her birth weight was normal (–0.15SDS) but poor growth was observed from a few months of age. She had no other symptoms. On examination, height was –3.4SDS and head circumference –1.6SDS. She had no dysmorphic features and normal development. Section 2: Investigations: Baseline serum analyses were unremarkable. Karyotype was normal (46XX). Bone age was delayed by 2.5...

ea0074oc2 | Oral Communications | SFENCC2021

A novel case of bilateral adrenal hemorrhage and acute adrenal insufficiency due to VITT (vaccine induced thrombosis and thrombocytopenia) syndrome

Ahmad Sabahat , Zaman Nusrat , Almajali Khouloud , Muhammadi Alireza , Baburaj Rajee , Akavarapu Sri

Case historyA 23-year-old female with no past medical history, presented with Acute Shortness of breath and Chest pain. CTPA revealed Bilateral Pulmonary Emboli with slightly low platelets. She was discharged on apixaban. Of note, she had received her first dose of Astra-Zeneca Covid vaccine 10 days ago. She re-presented 2days later with worsening chest pain. FBC revealed platelets 27,Hb 80,d-dimer 10,000. She was treated for presumed chest infection and...

ea0074oc3 | Oral Communications | SFENCC2021

Pyschosis and surgery. A case of thyroid storm treated with emergency non-consensual thyroidectomy

Oroko Maroria , Hilmi Omar , Drummond1 Russell

1. A 48 year old female was admitted to inpatient psychiatry with paranoid delusions, auditory hallucinations and subsequently detained under the Mental Health Act of Scotland. She had been diagnosed with Graves’ Disease 5 years previously having presented with anxiety and weight loss but had elected to refuse anti-thyroid drugs in favour of homeopathy and acupuncture. She refused any treatment for Graves’ Disease when admitted to Psychiatry even though floridly thyr...

ea0074oc4 | Oral Communications | SFENCC2021

Synchronous functional heterogeneity of metastatic pancreatic neuroendocrine tumour

Sim Sing Yang , Ramsey Emma , Cave Judith , Fityan Adam , Green Bryan , Al-Mrayat Ma'en

A 65 years old male chef presented with a history of weight loss of 15kg over a 12-month period associated with lethargy, constipation and abdominal pain. His past medical history included epilepsy, hypertension and gastric reflux. He reported no family history of endocrinopathies.At presentation his performance status was 0 and was found to have hepatomegaly. In view of rapid weight loss and hepatomegaly he had a CT scan of the abdomen and pelvis, which showed multiple hyperv...

ea0074oc5 | Oral Communications | SFENCC2021

A case of parathyromatosis: All options exhausted

Lawless Thomas , Talbot Fleur , Russell Georgina , Morgan Justin

Case historyA 23-year-old woman with no significant past medical history and normal renal function was incidentally found to be hypercalcaemic in 2003. Following investigation, she was diagnosed with primary hyperparathyroidism. She underwent three-gland parathyroidectomy; histology demonstrated hyperplasia. Her bone function remained normal, but 4 years later she was found to have normocalcaemic hyperparathyroidism. Sestamibi demonstrated uptake inferio...

ea0074oc6 | Oral Communications | SFENCC2021

A rare genetic cause of phaeochromocytoma

Craig Stephen , Talbot Fleur

A 17 year old woman attended the Emergency Department following an episode of chest pain and pre-syncope, coinciding with high blood pressure readings taken at home. Her blood pressure was recorded as 170/101 with no signs of end organ damage on clinical examination. She had no clinical features of Cushing’s disease or Neurofibromatosis and her BMI was 22.4. She had been seen at a Cardiology clinic 18 months previously for hypertension and chest pains. A 24 hour blood pre...

ea0074oc7 | Oral Communications | SFENCC2021

Fulminant cushing’s crisis immediately post-partum – challenges of management

Milln Jack , Shepherd Stephen , Hameeduddin Ayshea , Berney Daniel , Parvanta Laila , Akker Scott

Case history/Investigations/Results and treatment: A previously healthy 36 year old female was admitted to a local intensive care unit with psychosis and intractable hypokalaemia. She had delivered a live preterm baby girl at 33 weeks gestation ten days previously. The hypokalaemia led to an endocrine consultation which revealed onset of symptoms in the third trimester, with no symptoms present pre-conception. Serum cortisol was 2,258 nmol/l with a nadir K+ of 2.2 mmol/l. She ...

ea0074oc8 | Oral Communications | SFENCC2021

Pregnancy and postpartum clinical course in a woman with a homozygous calcium-sensing receptor mutation

Seguna Desiree , Rizvi Fareeha , Gorrigan Rebecca , Wiles Kate , Khan Rehan , Drake William Martyn

Section 1: Case history: We present the case of a 21-year-old lady known to harbour a homozygous inactivating mutation of the calcium sensing receptor (CaSR) which led to uncontrolled hypercalcaemia in infancy, necessitating emergency total parathyroidectomy. The CaSR plays an important role in calcium homeostasis. Inactivating mutations result in a higher calcium “set-point” and various degrees of hypercalcaemia based on the severity of functional impairment. In the...

ea0074oc9 | Oral Communications | SFENCC2021

Cardiac arrhythmia and ischaemic stroke in a young man with Resistance to Thyroid Hormone beta

Hannon Anne Marie , Kinsella Justin , Crowley Rachel , Moran Carla

Case history: A 42 year old male teacher presented to the emergency department with an acute right MCA infarct, on a background of paroxysmal atrial fibrillation/flutter and recurrent supraventricular tachycardia. He had chronic palpitations, with previous failed cardiac ablation. He had no other medical history, specifically, no history of ear infections or learning difficulties. There was no known family history of thyroid dysfunction. Previous TSH levels (no FT4 measurement...

ea0074oc10 | Oral Communications | SFENCC2021

An unusual case of raised PTH

Jamsheed Mohammed , Lambert Kimberley

60 year old gentleman referred to endocrine clinic from Rheumatology for raised PTH 23.5 pmol/l, in the context of normal calcium 2.2 mmol/l, low vitamin D 27.3 nmol/l, raised ALP 273 U/l, low phosphate 0.57 mmol/l and normal renal function. Past medical history of hypertension, Barrett’s oesophagus, cluster headaches and previous left femur fracture secondary to motor cross accident. The ALP isoenzyme for bone was raised. He was complaining of backache which he had for s...