Endocrine Abstracts

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...

Section 1: Case history: A 69 year old man with chronic obstructive pulmonary disease was admitted with acute onset shortness of breath. A CT pulmonary angiogram revealed no focal lung abnormality but identified an incidental 40 x 32 mm left-sided adrenal lesion. An unenhanced CT, undertaken to characterise the lesion, showed a homogeneous, well-circumscribed appearance with a radiodensity of 4 Hounsfield units. Prior to involvement of the Endocrinology team, a dedicated MRI w...

Context: Surgery is the first-line treatment option for thyrotropinomas, but medical therapy with somatostatin receptor ligands (SRL) may be used as neoadjuvant treatment and to facilitate safe surgery.Objectives: To determine the extent to which neoadjuvant SRL (i) corrects clinical, laboratory and tissue hyperthyroidism in thyrotropinomas, (ii) induces tumour shrinkage in macroadenomas, and (iii) aids microadenoma detection by 11C-methionine...

Objective: To determine if an extended lateral approach to trans-sphenoidal surgery (TSS), guided by 11C-Methionine PET/CT co-registered with volumetric MRI (Met-PET/MRCR), can lead to remission in patients with persistent acromegaly due to post-operative lateral/para-sellar tumour remnants.Methods: We identified eight patients with persistent acromegaly following primary intervention [TSS ± medical therapy ± radiotherapy ...

Tumours caused by mutations in the SDH enzyme complex have a unique tumour metabolome due to a truncated citric acid cycle. The accumulation of the onco-metabolite succinate is believed to drive tumourigenesis. The aim was to investigate the role of MRI spectroscopy (H-MRS) to detect in vivo succinate elevations in suspected SDH deficient tumours including GIST, phaeochromocytoma/paraganglioma (PPGL) and pituitary adenomas (PA). Suitable patients were identified based...

Background: Heightened awareness, as well as frequent thyroid function testing, have contributed to a recent rise in the incidence of thyrotropinomas. Microadenomas are now increasingly being recognized. The classical textbook description of thyrotropinomas is based on historically reported features in patients who typically had large/invasive lesions. The phenotype of microTSHomas could therefore differ.Methods: We reviewed the records of all TSHomas re...

Background: Congenital, isolated, central, hypothyroidism (CCH), is rare and evades diagnosis on TSH-based congenital hypothyroidism screening programmes in the UK. Genetic ascertainment is therefore paramount in enabling prompt diagnosis and treatment of familial cases. Recognised causes include TSHB and IGSF1 gene defects, with only two previous reports of biallelic, highly disruptive (nonsense; R17X, in-frame deletion and missense; p.S115-T117del+T118), mu...

Background: Congenital, isolated, central, hypothyroidism (CCH), is rare and evades diagnosis on TSH-based congenital hypothyroidism screening programmes in the UK. Genetic ascertainment is therefore paramount in enabling prompt diagnosis and treatment of familial cases. Recognised causes include TSHB and IGSF1 gene defects, with only two previous reports of biallelic, highly disruptive (nonsense; R17X, in-frame deletion and missense; p.S115-T117del+T118), mu...

Background: Adrenal vein sampling (AVS) remains the gold-standard for distinguishing unilateral and bilateral disease in primary aldosteronism (PA). However, it is invasive, technically demanding, and may yield inconclusive or equivocal results. 11C-Metomidate PET-CT (11C-MTO-PET-CT) is a non-invasive alternative to AVS for localising unilateral aldosterone-producing adenomas (APAs).Methods/patients: We report a retrospective analys...

Background: Endocrine Society guidelines classify macroprolactinomas as ‘resistant’ if there is failure to normalise prolactin, or to achieve radiological tumour shrinkage of >50%, on standard doses of dopamine agonist. In this context, escalation of treatment to maximal tolerable doses and/or referral for surgery is advised. However, we have recently observed several ‘discordant responders’, where tumour shrinkage lags significantly (>6 months) beh...