Endocrine Abstracts

Introduction: Obesity represents a major public health challenge and is linked with increased risk of multiple medical conditions including atrial fibrillation (AF). We have recently published the study protocol of the ‘The Effect of complex weigHt-reducing interventiOns on rhythm control in oBese subjects wITh Atrial Fibrillation’ (HOBIT-AF) trial. Here we communicate the preliminary results with the focus on the use of smart technologies and telemedicine.<...

Objectives: Pathogenic variants in the DICER1 gene can be found in both benign and malignant thyroid nodules, more often in pediatric patients. Somatic pathogenic variants in "hotspot" regions can coexist with germline variants in other regions of the DICER1 gene, which are associated with DICER1 syndrome, an autosomal dominantly inherited disease that predisposes to the development of various tumors from childhood. In addition to thyroid tumors, pleu...

Background: Functioning (FCA) and silent corticotroph (SCA) pituitary adenomas act differently from a clinical perspective, despite both subtypes showing positive ACTH staining by immunohistochemistry. They are challenging to treat, the former due to functional ACTH production and consequently hypercortisolemia leading to Cushing disease, whereas the latter due to invasive and recurrent behaviour. Moreover, the molecular mechanisms behind their distinct behaviour are not clear...

Objectives: To study the effect of epithelial-to-mesenchymal transition (EMT) on hormone expression in gonadotroph non-functioning pituitary neuroendocrine tumours (NF-PitNET).Background: Gonadotroph PitNETs can express FSH and LH or be hormone negative, however they rarely secrete hormones. During tumour development, epithelial cells develop a mesenchymal phenotype. This process is characterised by decreased membranous E-cadherin and translocation of E-...

Background: The exact mechanism behind the hypersecretion of ACTH and lack of negative cortisol feedback on POMC regulation in functional corticotroph adenomas (FCA) is unknown. Silent corticotroph adenomas (SCA) express, but do not secrete functional ACTH and have lower POMC expression. Using RT-qPCR and immunohistochemistry, previous studies have identified some POMC-transcription factors, regulators and processing enzymes to be differentially expressed between FCA and SCA. ...

Journal of Molecular Endocrinology 2016 56 273–290. DOI: 10.1530/JME-15-0283...

Journal of Molecular Endocrinology 2016 56 273–290. DOI: 10.1530/JME-15-0283...

Adrenocortical carcinoma (ACC) is a rare endocrine tumour with a generally poor prognosis. Mitotane is the only approved drug for treatment of advanced ACC (“palliative” setting). However, response is relatively poor with up to 20% of patients experiencing objective response (Megerle 2018). Moreover, adjuvant treatment with mitotane is frequently recommended for patients at high risk of disease recurrence after surgery (Terzolo 2007, Fassnacht 2018). Of note, mitotan...

Introduction: Unexplained weight loss is a cause for concern; it might indicate an underlying condition, usualy a catabolic state. In empty sella, the progressive loss of pituitary hormone secretion is usually a slow process, with symptoms varying from one person to another and depends on the underlying cause. Usually the weight remain relatively constant or we could have several arguments for weight gain.Case report: A 57 years old man with significant ...

The succinate dehydrogenase (SDH) enzyme complex consisting of four subunits (SDHA, SDHB, SDHC and SDHD) has a dual function in the process of mitochondrial energy generation. It converts succinate to fumarate as part of the TCA cycle and also transfers electrons to ubiquinone as part of the electron transport chain. Mutation in any subunit of the enzyme complex increases the risk for the development of neuroendocrine tumors including paraganglioma (PGL) and pheochromocytoma (...