Searchable abstracts of presentations at key conferences in endocrinology
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Society for Endocrinology Endocrine Update 2019

ea0062oc1 | Oral Communications | EU2019

Virilisation at puberty – a new subtype in the spectrum of NR5A1 mutations

Attard Carol Cardona , Atakan Sanem , Finill Caroline , Williams Louise , Creighton Sarah , Abid Noina , Conway Gerard

Case history: A 14.5-year-old girl was brought forward by her mother to the paediatric endocrine clinic in view of virilised genitalia, absent breast development and primary amenorrhoea. Her genital appearance had changed gradually throughout childhood though she never disclosed this to her parents. She was otherwise healthy with no significant family history of note. On examination, she had fused labioscrotal folds containing 10–12 ml testis. There was no obvious vaginal...

ea0062oc2 | Oral Communications | EU2019

Abstract Unavailable....

ea0062oc3 | Oral Communications | EU2019

A case of Birt-Hogg-Dubé syndrome presenting with a rare oncocytic non-secretory phaeochromocytoma

MacFarlane James , Plichta Piotr , Park Soo-Mi , Marker Alison , Krishnan Leena , Hand Sadiyah , Myint Khin Swe

Case history: Birt-Hogg-Dubé syndrome (BHDS) is a rare autosomal dominant disorder caused by heterozygous pathogenic variants in the FLCN gene encoding folliculin on chromosome 17p11, first described clinically in 1975. It is a ‘hamartomatous’ disorder usually manifesting with pulmonary cysts, benign cutaneous tumours and conferring a high risk of renal malignancy. A 43 year old man had a 34 x 22 mm right adrenal nodule discov...

ea0062oc4 | Oral Communications | EU2019

A novel PHEX mutation, p.(Trp749Ter), is associated with hypophosphataemia and rhabdomyolysis in adulthood

de Mezquita Kirsty Mills , Olesen Mie , Brown Rebecca , Sloman Melissa , Thakker Rajesh , Hannan Fadil

Case History: X-linked hypophosphataemia (XLH) manifests as rickets in infancy or childhood, and is caused by mutations of the phosphate-regulating neutral endopeptidase (PHEX) gene, which leads to excess production of the fibroblast growth factor-23 (FGF-23) hormone. We present a case illustrating that mutation of PHEX can also cause hypophosphataemia presenting in adulthood. The proband is a 56-year-old male, who was referred with persistent hypophosphataem...

ea0062oc5 | Oral Communications | EU2019

A case of SDHC mutation with two neuroendocrine tumours. Is it just a coincidence?

Hussein Ziad , Baldeweg S , Chung T

Case history: 63 year man with two trans-temporal incomplete resections of a glomus jugulare tumour (HNPGL) in 1993 and 2000 with regular surveillance scans for residual disease. Eight years later, an MRI demonstrated an incidental pituitary macroadenoma with cavernous and sphenoid sinuses invasion. The patient was asymptomatic but, his biochemistry revealed a markedly raised prolactin of 43,000 mIU/l with no other pituitary hormone deficiency. Cabergoline was commenced and th...

ea0062oc6 | Oral Communications | EU2019

Effective novel therapy in the use of managing refractory hypoglycaemia in a patient with metastatic insulinoma

Anandappa Samantha , McGowan Barbara , Prachalias Andreas , Sarker Debashis , Miquel Rosa , Carroll Paul , Velusamy Anand

Case history: 22 year old female presented with left sided hemiparesis following a generalised seizure; the blood glucose was 1.2 mmol/l. Corrective treatment restored cerebral function. In the preceding 6 months, she had symptoms of drowsiness on waking which corrected with sugary drinks and described tiredness with lethargy. There had been no reported change in appetite or bowel habits however, there had been a degree of weight loss during this period. During hospital admiss...

ea0062oc7 | Oral Communications | EU2019

An aldosterone crisis

Tufton Nicola , Rathore Ali , Matson Matthew , Hameeduddin Ayesha , Berney Daniel , Brown Morris , Akker Scott

Case history: A 26 year-old lady was admitted directly from the endocrine clinic with severe hypertension (BP 180/130 mmHg) and bilateral papilloedema. Six weeks prior to admission she had undergone resection of a 24 cm right upper quadrant lesion that was pre-operatively felt to be of hepatic origin. She was normotensive pre-operatively. Histology confirmed this to be an adrenal phaeochromocytoma with deficient SDH immunostaining. Pre-operative biochemical assessment had not ...

ea0062oc8 | Oral Communications | EU2019

Adenoma to carcinoma progression of a deoxycortisol-secreting adrenal cortical carcinoma in a 71 year old man presenting with hypokalaemia

Talbot Fleur , Powlson Andrew , Marker Alison , Gurnell Mark , Kosmoliaptsis Vasilis , Challis Ben , Casey Ruth

Case history: We present a 71 year old man, with a 3 year history of problematic hypertension (BP exceeding 190/100 on treatment), incidentally found to be hypokalaemic (K 1.8 mmol/l) during investigations for leg weakness. He had no clinical features to suggest an endocrinopathy. Investigations at his local centre revealed hypokalaemia dating back over 3 years.Investigations: Biochemistry:Na 142 mmol/l (135–145 mmol/l)<p ...

ea0062oc9 | Oral Communications | EU2019

Osteoporosis with a raised serum testosterone – an unexpected finding

Bisambar Chad , Bashari Waiel , Clunie Gavin , Donnelly Neil , Mannion Richard , Gurnell Mark

Case history: A 20-year-old man was referred to the metabolic bone clinic following a left sided neck of femur fracture (sustained after a simple fall whilst roller skating). He was otherwise well with no past medical history; systemic enquiry was unremarkable. A DEXA scan revealed osteoporosis (Z scores: total hip −2.97; lumbar spine −3.1), and bone turnover markers were significantly raised. Unexpectedly, the patient was found to have an elevated serum t...

ea0062oc10 | Oral Communications | EU2019

An occult cause of thyrotoxicosis

Bishop Katherine , Whitehead Ian , Ewins David

Case History: A 46 year old lady presented with deranged thyroid function (TSH 0.05, T4 19.7). She reported palpitations, mild eye irritation, sweats and weight loss. Examination revealed a resting tremor and regular pulse (72 bpm). A small goitre with bruit was present, but no evidence of thyroid eye disease. Block-and-replace regime of carbimazole and levothyroxine was commenced for Graves’ disease. Thyroid peroxidase antibodies were <1. After one year of euthyroidi...