Endocrine Abstracts

Background: If the laboratory results are not compatible with the patient’s clinical symptoms, the presence of possible test interference should be considered. Despite the excellent quality of immunoassays, it is currently estimated that they may be susceptible to several types of interference that may lead to patient misdiagnosis.Case report: In our case report we present a 71-year-old woman with confirmation of macro-adrenocorticotropic hormone (m...

Introduction: In patients with ACTH-dependent Cushing Syndrome, differentiating between pituitary and ectopic sources can be challenging. Noninvasive testing can be performed, but bilateral inferior petrosal sinus sampling (BIPSS) remains the gold standard. In the last years however, novel imaging modalities, namely 3T-MRI with 3-dimensional spoiled gradient-echo sequence and 68Ga-tagged CRH combined with positron emission tomography, have been proposed as alternatives.<p ...

Introduction: Neurofibromatosis type 1 (NF1) is an autosomal dominant neurocutaneous disorder characterised by the appearance of multiple, mostly benign, tumours throughout the skin and central nervous system. Furthermore, NF1 is associated with a number of (pre)malignant tumours including pheochromocytoma, glioma, invasive breast cancer and (pre)malignant peripheral nerve sheath tumours (1). Approximately 1:2500 to 1:3500 individuals are affected.Medull...

Case History: A 37 year old female underwent an elective autologous stem cell transplant (ASCT) for multiple sclerosis (MS), with cyclophosphamide and anti-thymocyte (ATG) conditioning. She had previously received two doses of alemtuzumab, with the last dose 12 months prior to ASCT. Baseline thyroid function was normal pre atemluzumab. 3 months prior to dose 2 (18 months post first dose), subclinical hyperthryoidism was present with a raised TSH antibody (0.08 unit/ml). There ...

Background: The cure of unilateral primary aldosteronism (PA) after adrenalectomy can result in complete, partial or absent biochemical and clinical improvement1. Histological findings from HE samples are of little assistance in determining if adenoma or hyperplastic adrenal tissue is hormonally overactive. Our aim in the present study was to compare immunohistochemical (IHC) CYP11B1 and CYP11B2 staining in adrenal slices to histological diagnosis based on H&E s...

Introduction: Hypocalcaemia is a rare and potentially reversible cause of cardiomyopathy. Restoration to normal serum calcium levels usually leads to rapid improvement of cardiac function.Case report: A 42-year-old woman with a history of total thyroidectomy, due to large nodular goiter in 2016, and acute pos-operative hypoparathyroidism, assumed to be transient, with no supplementation since early 2017. In September 2018 she was admitted due to acute ca...

Background: Residual morbidity in patients with Cushing’s syndrome (CS) in remission significantly affects Quality of Life (QoL). While sustained muscle weakness is a frequent complaint in these patients, the impact of muscle dysfunction on their psychophysical wellbeing is currently unknown. Patients & methods: We included 28 female patients [mean(±SD) age, 50±12 years; mean (±SD) BMI, 26.7±3.8] and 26 age- and BMI-matched healthy controls. Mean (...

Background: Oncocytic neoplasms are rare adrenal tumours usually considered as benign and non-functional. Conversely, in recent large nationwide study from COMETE network over 50% of the oncocytic adrenocortical tumours were diagnosed as carcinoma according to Lin Weiss-Bisceglia-score. However, until now only 11 cases of metastatic oncocytoma were reported in English literature.Case report: A 54-year-old man with history of abdominal pain and weight los...

Introduction: Recent advance of genetic testing has contributed to the diagnosis of hereditary pheochromocytoma and paraganglioma (PPGL). Germline mutations in MYC associated factor X(MAX) are responsible for 1.1% of these PPGL; the median age at onset is 33 years and no reliable penetrance estimation is available for MAX-carriers. The authors present the case of a synchronous bilateral pheochromocytoma that prompted the discovery of a proband of MAX mutation and three other r...

Background: The Swedish Pituitary Register (SPR) is a national quality register founded in 1991 by the Swedish Pituitary Group and it provides important data in the continuous quality assessment and improvement work within the Swedish health care system.The Swedish Pituitary Register Nursing Group (SPRNG) was formed by nurses at the University Hospitals, working with the register, in 2011.Purpose: To increase the coverage rate and ...