Endocrine Abstracts

Objectives: Oestrogen analysis using liquid chromatography mass spectrometry is problematic, as oestrogens do not readily ionise. This coupled with low concentrations in men, pre-pubertal and post-menopausal women provides an analytical challenge. We investigated N-Methyl Pyridine-3-sulfonyl chloride (NMPS) derivatisation, as described by Wang et al. (Steroids 2015 Apr;96:140-152) to improve sensitivity of 11 oestrogens; oestrone (E1), oestradiol (E2), 2-hydroxy-oestr...

Familial hypocalciuric hypercalcaemia type-3 (FHH3) is caused by loss-of-function mutations of the sigma subunit of adaptor protein-2 (AP2), a ubiquitously expressed heterotetrameric protein with a fundamental role in endocytosis of transmembrane proteins. FHH3-associated AP2σ mutations impair internalisation of calcium-sensing receptor (CaSR) giving rise to FHH. CaSR predominantly signals via Gαq/11 leading to intracellular calcium release, and activation...

Mass spectrometry has been used to measure steroids for more than 40 years, but has gained popularity within the endocrine field in the last 15+ years. This is mainly due to technological advances that facilitated the development of high throughput methods.Historically, steroids were measured by crude techniques such as thin layer chromatography (TLC) and later by the more sophisticated RIA. The problems with these techniques include:<p class="abstex...

Adrenal haemorrhage is comparatively rare. A 64-year-old female presented with acute right sided abdominal and chest pain shortly after a left knee replacement. She had recently started treatment dose low molecular weight heparin for presumed DVT for persistent pain in the left knee. A subsequent Doppler study of left leg was negative for DVT but an abdominal US revealed a solid lesion at the upper pole of the left kidney. CT urography showed large bilateral adrenal masses. No...

Background: The diagnosis of isolated GH deficiency (IGHD) is based on multiple factors: clinical, radiological and biochemical along with suboptimal peak GH levels demonstrated on dynamic testing. Recent guidance from the National Institute of Clinical Excellence (NICE; UK; 2010) advises that two GH stimulation tests must demonstrate a subnormal GH peak <6.7 μg/l (20 mU/l) to confirm the diagnosis of IGHD. In our centre, three different GH provocation tests are used:...

Recombinant growth hormone (GH) administration uses several different injection devices. Despite offering free patient choice at GH therapy start, ~20% of our patients subsequently change GH device.Objective: To investigate reasons for GH device change, and evaluate the effect on adherence, height velocity standard deviation (HVSDS), and insulin-like growth factor-1 (IGF1).Method: Retrospective study of extracted growth data and la...

Introduction: Familial hypocalciuric hypercalcemia (FHH) is caused by inactivating autosomal dominant mutations with high penetrance of CaSP gene. Contrary to severe neonatal hyperparathyroidism, caused by homozygous inactivation of the gene, familial hypocalciuric hypercalcemia is usually associated with inactivating variants in heterozygoty.Case: Male patient, 73 years, with history of Behçet’s disease and pulmonary sarcoidosis, was refered f...

Introduction: There is a well-established association between acromegaly and insulin resistance (IR). The abnormalities in glucose metabolism may be an important risk factor of cardiovascular morbid-mortality in these patients.Objective: Evaluation of glucose metabolism abnormalities in a population of naïve acromegalic patients and its relationship with delay in diagnosis, gender, levels of insulin like growth factor 1 (IGF1) and GH.<p class="a...

Introduction: The association between medullary (MTC) and differentiated thyroid cancer (DTC, with the most frequent form of papillary thyroid carcinoma, PTC) is rare and can be observed in two main settings: a collision tumor (that is, a tumor with two separate and different components) or a mixed tumor showing dual differentiation.Case report: A 58-year-old woman, affected by euthyroid multinodular goiter came to our observation for a second opinion re...

Seventy six year old man presented with sudden onset headache for 3 days. He was seen by the GP and treated for migraine. But no improvement in his headache and he developed drooping of left eyelid and blurring of vision. No other neurological symptom.On examination left ptosis with normal visual fields to confrontation method. Initial differential diagnosis was isolated 3rd nerve palsy probably due to posterior communicating artery aneurysm. He was on a...