Endocrine Abstracts

Pheochromocytomas and paragangliomas (PPGLs) are rare neuroendocrine tumours, which arise from neural crest (NC)-derived structures: the adrenal medulla and the paraganglia. Around one third of PPGLs are associated with inherited cancer susceptibility genes, the highest rate among all tumour types. Currently, the only diagnostic criterion for malignant disease is the presence of metastasis and no molecular or histological features have been identified that help predict risk. A...

Adrenocortical carcinoma (ACC) is a rare endocrine malignancy. ACC may rarely occur as part of familial cancer syndromes, but the majority of the cases occur sporadically. A significant proportion of sporadic ACC cases may be preceded by other malignancies and adrenal metastasis from these primary tumours may frequently occur. Herein we present three cases where sporadic ACC was identified in patients with coexistent or previous history of melanoma.Case ...

Neuroendocrine castrate resistant prostate cancer (NE-CRPC) is a lethal CRPC subtype that arises as prostate cancer cells transdifferentiate to neuroendocrine cells, evading the potent selective pressure of androgen deprivation therapies (ADT). Currently, clinicians lack biomarkers to detect NE-CRPC evolution and specific therapies to target it. With ~50% of prostate cancer (PC) patients receiving ADT and NE-CRPC accounting for ~25% of CRPC deaths, CRPC and NE-CRPC are a signi...

Hyperthyroidism is not a well-known cause of venous thromboembolism. Hyper-coagulable and hypofibrinolytic states are described in hyperthyroidism. A meta-analysis of 51 studies evaluating the consequence (exogenous and endogenous effect on coagulation, raised thyroid levels were associated with a rise in clotting factor VIII, IX, Von Willebrand factor and fibrinogen. The procoagulant effect noticed in hyperthyroidism facilitated by thyroid hormone receptor beta gene. 40-year-...

Pheochromocytomas and paragangliomas (PPGLs) are rare neuroendocrine tumours, which arise from neural crest (NC)-derived structures: the adrenal medulla and the paraganglia. Around one third of PPGLs are associated with inherited cancer susceptibility genes, the highest rate among all tumour types. Currently, the only diagnostic criterion for malignant disease is the presence of metastasis and no molecular or histological features have been identified that help predict risk. A...

38 year old lady with history of thyrotoxicosis managed since 2012. She works as a bus driver and is a single mother. She had no evidence of thyroid eye disease and her clinical activity score was 0. She has a smooth goitre which is non compressive. She was previously treated with propylthiouracil and she went into remission but then she relapsed in 2018. She has been on treatment but due to being a single mother and also her work schedules, she struggles with her medications ...

A 27-year old Caucasian woman was referred to the Endocrine Bone Clinic after investigations for general malaise revealed hypercalaemia and elevated parathyroid hormone levels. She had no history of constipation, abdominal pain, bone pain, or other related symptoms. She had no history of renal stones or fractures and no change in weight. Her past medical history included asthma and she took a salbutamol inhaler as required. She had no family history of endocrine pathology. Gen...

Section 1: Case history: A 38 year old female was identified as carrying a heterozygous pathogenic MEN1 variant (c.13404delG) through predictive testing, following a diagnosis of familial hyperparathyroidism.Section 2: Investigations: Routine screening for hyperparathyroidism and pituitary disease was negative. However, a CT thorax–abdomen–pelvis revealed a 41 mm pancreatic tail mass. Biopsy via endoscopic ultrasound confirmed a well-d...

Cushing’s syndrome is a fascinating clinical challenge, both for diagnosis and management. Despite being a rare disease, it has many causes consisting of a broad variety of tumors. These tumors can arise from different tissues (i.e. pituitary, adrenal, lung…) varying from small benign and even non detectable tumors, to large aggressive cancers. The secretory spectrum of these tumors is broad qualitatively and quantitatively. It results from the molecular alterations...

Polycystic ovary syndrome (PCOS) is the most common endocrine disorder, affecting 10–18% of women of reproductive age. Based on the Rotterdam consensus, PCOS is diagnosed by at least two of the following three criteria: oligo- or anovulation, hyperandrogenism, and polycystic ovaries on ultrasound. PCOS is also a metabolic disorder since many affected women present with obesity, insulin resistance and associated metabolic comorbidities. Despite its prevale...