Endocrine Abstracts

Background: SPINET was a phase 3 trial (NCT02683941) in patients with well-differentiated, advanced bronchopulmonary neuroendocrine tumors (NETs; typical and atypical carcinoids [TCs and ACs]). During the double-blind (DB) period, patients were randomized (2:1) to receive lanreotide autogel/depot (LAN; 120 mg) or placebo (PBO) every 28 days; in the optional open-label (OL) phase, all patients received LAN. Recruitment was stopped early due to slow accrual; all eligible patient...

The mutations of succinate dehydrogenase subunits (SDHA, SDHB, SDHC, SDHD) are linked with a predisposition to develop pheochromocytoma and paraganglioma, often in diferent locations of the body. With greater acces to genetic tests, current estimations suggest that 40-50% of pheocromocytoma and paraganglioma cases are inherited and half of them are due to SDH mutations. These mutations can be associated with other tumours like renal carcinomas, gastrointestinal stroma tumours ...

Introduction: Alemtuzumab is an humanized monoclonal antibody used for treatment of Relapsing remitting Multiple Sclerosis (RRMS). One of its main adverse effects is thyroid dysfunction, being a fluctuating hypothyroidism the most frequent presentation. Sometimes this thyroid disturbance is so significant that it might lead to alemtuzumab withdrawal. We present two Clinical cases of hyperthyroidism secondary to alemtuzumab with different clinical courses. <p class="abstext...

Background: Diabetes mellitus is a lifelong chronic disease with higher risk of mortality and morbidityObjective: To study the risk factors of death in hospitalized diabetic patientsMethods: Data obtained from the database of the National Health Fund (NHF), a public organization financing medical procedures in Poland regarded 958305 hospitalizations of adult (≥18 years old) patients with diabetes in 2014 year. Logistic regres...

The Endocrine Society guidelines recommend initial testing for Cushing’s syndrome (CS) can be based on non-invasive late-night salivary cortisol measurement (NSC). In the BHSCT NSC (11pm), measured using the IBL ELISA kit has been found to be highly discriminative in identifying patients with CS. However it is a labour intensive test and the need for analysing samples in batches delays turnaround time, limiting its use in the routine work-up for CS. Roche provide an autom...

Background: The severe neurodevelopmental phenotype of untreated congenital hypothyroidism exemplifies the critical role of thyroid hormones (TH) in CNS development, acting via thyroid hormone receptor α1 (TRα1) on cortical neurogenesis, cerebellar development and oligodendrocyte differentiation. We have identified the first humans with defective TRα1 and investigated neurocognitive phenotype and CNS abnormalities in this disorder.Methods:...

Background: FOP is an ultra-rare genetic disorder characterised by episodic progressive heterotopic ossification (HO) and flare-ups, causing cumulative disability and early death. FOP is diagnosed and managed by multiple specialists, including endocrinologists. There are no established disease-modifying therapies to prevent HO in FOP. Treatment guidelines for symptomatic relief of FOP have recently been published by the International Clinical Council on FOP (ICC).1<...

A 29-year-old lady presented with features of Cushing’s syndrome in October 2014. Investigations confirmed ACTH–dependent Cushing’s syndrome. An MRI scan showed a 4.5 mm right-sided pituitary lesion and subsequent inferior petrosal sinus sampling confirmed a central source of ACTH hypersecretion. She underwent trans-sphenoidal pituitary surgery in January 2015. Histology confirmed a corticotroph adenoma with a Ki-67 proliferation index of 1%. However, a mean cor...

Introduction: Evaluation of XY DSD requires a combination of endocrine and genetic tests. It is unclear whether these two sets of investigations should be performed stepwise or in parallel.Aims: The aim of the study was to document the range of endocrine and genetic abnormalities identified in all XY boys who were investigated at one specialist multidisciplinary service.Methods: Case records were reviewed to collect information fro...

IntroductionMeasurements of thyroglobulin (Tg) and Tg antibodies play a crucial role in the follow-up of treated differentiated thyroid cancer (DTC) patients, for instance to determine the response to therapy and the use of additional investigations and therapies. The aim of this study was to explore, from a laboratory perspective, the practical implications of the substantial clinical role of these measurements being imposed by national and internationa...