Searchable abstracts of presentations at key conferences in endocrinology
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Society for Endocrinology Endocrine Update 2022

ea0082oc1 | Oral Communications | SFEEU2022

Genetic analysis of patients with undiagnosed short stature identified novel dominant negative GH receptor variants which provide important insights into GHR physiology

Andrews Afiya , Cottrell Emily , Maharaj Avinaash , Ladha Tasneem , Williams Jack , A Metherell Louise , J McCormick Peter , Storr Helen L

Case history: Two unrelated male patients were referred for evaluation of short stature. The first patient aged 16.5 years, had a birth weight of 2.6 kg at term (BWSDS -2.4), height 153 cm (HSDS -3.2) at referral and normal BMI SDS of 0.6. He had early postnatal hypoglycemia, which was conservatively managed, but no other significant clinical history. He had relative macrocephaly and disproportionate short stature. His mother was also short with a similar phenotype (height 147...

ea0082oc2 | Oral Communications | SFEEU2022

A case of multiple paragangliomas in a chronic hypoxic patient with congenital heart disease

Khanam Amina , Tharma Tharani , Joshi Mamta , Velusamy Anand , Carroll Paul

A 50-year-old female with complex chronic hypoxic congenital heart disease was incidentally identified with a 2 cm extra-vesicular nodule of the bladder during a surveillance ultrasound scan. Suspicious of a bladder carcinoma she uneventfully underwent open partial cystectomy. Histology confirmed a bladder paraganglioma with local lymph node invasion. Post-operative biochemical work-up disclosed raised plasma metanephrine”s: normetadrenaline 7073 pmol/l (120-1180 pmol/l),...

ea0082oc3 | Oral Communications | SFEEU2022

Doege-Potter Syndrome: A rare case of confusion

Irshad Shadman , Harkness Rosie , Hamad Adeel , Mishra Biswa

Case History: A 51 year old man was brought in by ambulance with new confusion was found to have hypoglycaemia with a blood glucose of 1.8. He was treated by paramedics. His PMHx included a recent diagnosis of solitary pleural fibrous tumour, recent diagnosis of epilepsy. The patient had been admitted to hospital 10 weeks ago with recurrent confusions. Collateral history unveiled visual hallucinations. He had recently lost unintentional weight. Random blood glucose at first pr...

ea0082oc4 | Oral Communications | SFEEU2022

Barakat syndrome: A rare cause of primary hypoparathyroidism

Mark-Wagstaff Charlotte , Sathyapalan Thozhukat , Deshmukh Harshal

Case history: A 54-year-old lady was diagnosed with primary hypoparathyroidism in 2006, after being referred by her Rheumatologist as her father and brother had familial hypoparathyroidism and sensorineural deafness. She was followed up in endocrine clinic for management of primary hypoparathyroidism. Her hypocalcaemia is well managed with calcium supplementation, with no specific symptoms of hypocalcaemia. She has recurrent urinary tract infections with known borderline chro...

ea0082oc5 | Oral Communications | SFEEU2022

Unusual cause of acromegaly in a young patient

Ahamed Sadiq Shafana , Smout Vera , Dhar Mili , Poddar Ankur , Bano Gul

Case History: A 35-year-old was referred to surgery with a confirmed diagnosis of symptomatic acromegaly. Her GH failed to suppress during an oral glucose tolerance test (OGTT), her IGF-1 and prolactin was high. The histology and immunocytochemistry suggested pituitary hyperplasia. We started to look for conditions associated with pituitary hyperplasia resulting in GHRH production, including the genetic tests for inherited conditions. A solitary nodule was noted in her neck du...

ea0082oc6 | Oral Communications | SFEEU2022

Treatment with Selective RET inhibitors in Medullary Thyroid Cancer – A Case series

Sharma Aditi , Sairam Shwetha , Narula Kavita , Newbold Kate , Di Marco Aimee , Wernig Florian

Case history: A 54-year-old lady was diagnosed with primary hypoparathyroidism in 2005, after being referred by her Rheumatologist as her father and brother had familial hypoparathyroidism and sensorineural deafness. She was followed up in endocrine clinic for management of primary hypoparathyroidism. Her hypocalcaemia is well managed with calcium supplementation, with no specific symptoms of hypocalcaemia. She has recurrent urinary tract infections with known borderline chron...

ea0082oc7 | Oral Communications | SFEEU2022

Paseriotide keeping Nelson”s syndrome at bay

Rafique Shemitha , Khanam Amina , Thomas Stephen

Case history: Our patient is a 64 year old lady who had bilateral adrenalectomy in 1978 for Cushing”s disease. This was followed by radiotherapy in late 1978. To get further reduction of the ACTH producing pituitary adenoma she had transsphenoidal surgery in 1979 and then transfrontal craniotomy in 1982. This was followed by further radiotherapy in 1985. It left her with panhypopituitarism and she was on full hormone replacement. She presented to our hospital in late 2008...

ea0082oc8 | Oral Communications | SFEEU2022

Familial dysalbuminaemic hyperthyroxinaemia, a rare cause of discordant TFTs

Thuzar Aung Ei , Kohli Shuchi , Prakash Narayanan Ram , Furlong Niall , McNulty Sid , Bujawansa Sumudu , Westall Samuel , Hurst Janine , Balafshan Tala

Section 1: Case history: A 61-year-old lady was referred by her GP to our endocrine clinic with abnormal thyroid function tests (TFTs) incidentally identified in routine blood tests. She had no symptoms suggestive of thyrotoxicosis apart from occasional palpitations when using inhalers for asthma. She had no family history of endocrine significance. She was on salbutamol, salmeterol, fluticasone inhalers and laxatives. Physical examination was unremarkable with no goitre. ...

ea0082oc9 | Oral Communications | SFEEU2022

A case of ChAdOx1 vaccine-induced thrombocytopenia and thrombosis syndrome leading to bilateral adrenal haemorrhage and adrenal insufficiency

Efthymiadis Agathoklis , Khan Dalia , Pavord Sue , Pal Aparna

Case History: We report the case of a 23-year-old woman who developed adrenal insufficiency secondary to bilateral adrenal haemorrhage in the context of vaccine-induced thrombosis and thrombocytopenia (VITT). She presented with breathlessness and chest pain eight days after receiving her first dose of the adenoviral vector-based ChAdOx1 vaccine. Over the course of a week, she developed fulminant VITT. Her only comorbidity was obesity, with BMI of 35 kg/m2. <p class="abstex...

ea0082oc10 | Oral Communications | SFEEU2022

Not your usual barn door Hyponatremia- A twist in the tale of a common Electrolyte abnormality

Kapoor Ashutosh , Deore Mahesh

Case History: We report the case of a 25-year-old Asian male who presented to our hospital with recurrent episodes of abdominal pain complicated by significant Hyponatremia. Initial admission was in November 2021 followed by March, 2022 with similar symptoms. He remained under surgical care during both admissions. For his severe hyponatremia, an urgent Endocrine input was sought. The patient was not on any medications that could be implicated in his biochemical picture and his...