Searchable abstracts of presentations at key conferences in endocrinology
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Society for Endocrinology BES 2017

Harrogate, UK
06 Nov 2017 - 08 Nov 2017

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SfE BES 2017 will be on the 6-8 November 2016 in Harrogate, UK.

Featured Clinical Cases

Featured Clinical Cases

ea0050cc01 | Featured Clinical Cases | SFEBES2017

Novel ABCC9 mutation with Cantu syndrome-associated phenotype of hypertrichosis with acromegaloid facial features (HAFF) with coexisting familial pituitary adenoma

Marques Pedro , Ronaldson Amy , Spencer Rupert , Morrison Patrick , Carr Ian , Dang Mary , Bonthron David , Hunter Steven , Korbonits Marta

Pseudoacromegaly or acromegaloidism is used to describe cases where acromegaly-related physical appearance can be observed without any abnormality in the growth hormone (GH) axis. Acromegalic features, in particular coarse facies, together with hypertrichosis, are typical manifestations of one of the pseudoacromegaly conditions: hypertrichosis acromegaloid facial features (HAFF) syndrome. This condition phenotypically overlaps with Cantu syndrome and acromegaloid facial appear...

ea0050cc02 | Featured Clinical Cases | SFEBES2017

A case of giant prolactinoma with JAK 2 positive mutation

Ho Winnie , Tufton Nicola , Druce Maralyn

We present the case of a 19-year old male who presented with a generalized tonic clonic seizure associated with visual loss. Examination revealed severe visual field defects and arrested pubertal development. Laboratory evaluation revealed a very elevated prolactin of 298 410 mU/l, hypogonadotrophic hypogonadism, secondary adrenal insufficiency, and secondary hypothyroidism. He was also found to have thrombocytosis due to JAK 2 essential thrombocythaemia. Pituitary MRI reveale...

ea0050cc03 | Featured Clinical Cases | SFEBES2017

A novel variant in the androgen receptor gene causing familial mild androgen insensitivity syndrome

Iacovazzo Donato , Kumar Ajith , Abbs Stephen , Solomon Andrew , Korbonits Marta , Druce Maralyn

Introduction: Androgen insensitivity syndrome (AIS) is a heterogeneous condition. At the milder end of the clinical spectrum, patients with mild AIS (MAIS) are phenotypically male, and may present with infertility, either isolated or associated with gynaecomastia or signs of mild undervirilization. Most cases of complete and approximately 25% of partial AIS patients harbour mutations in the androgen receptor (AR) gene. Over 1,000 pathogenic variants have been describe...

ea0050cc04 | Featured Clinical Cases | SFEBES2017

Renin assay interference may conceal the diagnosis of primary aldosteronism

Powlson Andrew S , Oddy Sue , Halsall David J , Moran Carla , Gurnell Mark

Context: Primary aldosteronism (PA) accounts for 5–10% of all hypertension and 20–25% of refractory cases. Diagnosis is important as PA is associated with increased morbidity and mortality compared with ‘essential’ hypertension, and up to 50% of patients may benefit from unilateral adrenalectomy. Screening requires measurement of plasma renin activity (PRA) or concentration (PRC), and plasma aldosterone concentration (PAC), to yield an aldosterone:renin rat...

ea0050cc05 | Featured Clinical Cases | SFEBES2017

Mutational analysis and SDHB immunostaining in bladder paraganglioma

Rafique Shaina , Surendran Aarthi , Joshi Mamta , Breen Louise , Velusamy Anand , Izatt Louise , McGowan Barbara , Powrie Jake , Carroll Paul V

Bladder Paragangliomas (PGLs) constitute < 1% of all bladder tumours and 5% in our patient cohort of 80 patients with tumours due to SDH deficiency. They often display an aggressive phenotype with metastatic disease and require long-term follow up. SDHB immunostaining plays a significant role in initial risk stratification and facilitating appropriate genetic testing. We present four cases of bladder PGLs; two with SDHB mutation, one SDHA and one is awaiting extended genet...

ea0050cc06 | Featured Clinical Cases | SFEBES2017

Activating mutation in the arginine vasopressin receptor AVPR2 resulting in nephrogenic syndrome of inappropriate antidiuresis in a female

Majeed Mohamed Ashif , Hague Jennifer , Powlson Andrew S , Hale Julia , Casey Ruth , Oddy Sue , Gurnell Mark , Park Soo-Mi , Simpson Helen

Introduction: Hyponatraemia is the commonest electrolyte disturbance, but is not common in young people. Here, we describe a female subject, with recurrent unexplained symptomatic hyponatraemia in whom we considered the possibility of an activating mutation in the arginine vasopressin receptor type 2 (AVPR2) as a rare cause of Syndrome of Inappropriate Anti-Diuresis (SIAD).Case: A 39 year old woman had a history of unexplained hyponatraemia (serum sodium...

ea0050cc07 | Featured Clinical Cases | SFEBES2017

Case report of MAX mutation causing bilateral phaeochromocytoma

Nazareth Joshua , Levy MIles , Barwell Julian

Background: Patients with Phaeochromocytomas (PCC) have been found to carry germline mutations in 40% of cases. The number of known susceptibility genes has risen sharply in recent times, from six to sixteen since 2009. We present a patient who was found to have a mutation in Myc Associated Protein X (MAX), one of the newly identified inherited susceptibility genes.Case Presentation: A 16-year-old female presented with paroxysmal episodes suggestive of c...

ea0050cc08 | Featured Clinical Cases | SFEBES2017

Pseudohypervitaminosis D due to assay interference

Khan Muhammad Ilyas , Ali Shah Syed Saad , Chikthimmah Vineeth

Assay interference with various laboratory measurements has been reported in the presence of paraproteins. We report a case of a 57 year old woman, who was referred to endocrine clinic after being found to have elevated total vitamin D levels of 369 and 336 nmol/l (normal 50–100 nmol/l). She was not known to be on any Vitamin D supplements that could account for such high levels. Around the time of referral, she was also diagnosed with IgM paraproteinaemia. Therefore, pos...

ea0050cc09 | Featured Clinical Cases | SFEBES2017

Deteriorating course of a cystic pituitary lesion during pregnancy

Talla Maria Rita , Butterly Elaine

Rathke’s cleft cysts (RCCs) are benign epithelium-lined cystic remnants of the embryonic Rathke’s pouch. We report a case of a previously fit and well 30-year-old lady with an incidental finding of a cystic pituitary lesion, discovered when she took part in a clinical trial as a normal volunteer. She had no history to suggest endocrine dysfunction.Pituitary function tests showed prolactin 302 mU/l (ref <630), LH 2.2 U/l, FSH 4.9 U/l, oestra...

ea0050cc10 | Featured Clinical Cases | SFEBES2017

Hypoparathyroidism and recurrent hypomagnesaemia since infancy: a rare genetic cause

Mackin Sharon T , Touyz Rhian M , Perry Colin

We present a diagnostically challenging case of a 22-year old female with short stature and recurrent admissions with severe hypokalaemia, hypocalcaemia and hypomagnesaemia since infancy.Case: Our patient was born at 38 weeks gestation following a pregnancy complicated by intrauterine growth restriction since 28 weeks. She had low birthweight of 2.4 kg and significantly shorter length and lower head circumference than expected. Mild dysmorphic features o...