Endocrine Abstracts

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...

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...

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...

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...

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...

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...

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...

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...

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...

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...