Endocrine Abstracts

Case: We report a rare case of a primary cardiac paraganglioma. A 49-year-old male was found to have elevated3-methoxytyramine (3-MT) levels with normal metanephrines, having undergone a screening test following discovery of SDHB gene mutation, after his 10-year-old niece developed a phaeochromocytoma.The patient demonstrated no hypertension and did not bear signs of catecholamine excess, but on direct questioning...

Ectopic insulin secreting tumours are rare and infrequent. Presentation can be with recurrent or constant hypoglycaemia often in older patients with advanced cancer. The mechanism is through: insulin or insulin-like activity (IGF-2)(often termed non-islet cell tumour hypoglycaemia), reduced gluconeogenesis, disruption of glucagon metabolism, or utilisation of glucose by the tumour. Neuroendocrine tumours are recognised as having hypogly...

Introduction: Opportunistic infections are a recognised complication of severe hypercortisolism. We report a case of Pneumocystis Pneumonia (PCP for formerly named Pneumocystis carinii pneumonia) in patient with ectopic Cushing's syndrome (CS) caused by a metastatic neuroendocrine carcinoma of the lung.Case history: A 61-year old male attended the Acute Medical Unit for investigation and treatment of seve...

Multiple Endocrine Neoplasia is characterised by the occurrence of tumours involving two or more endocrine glands within a single patient. MEN are autosomal dominant disorders. Four forms have been described: MEN 1 due to menin mutations, MEN2 (previously MEN2A) due to mutations of a tyrosine kinase receptor encoded by the rearranged during transfection (RET) protoncogene, MEN3 (previously MEN2B) due to RET mutations and MEN4 due to cyc...

A 26-year-old Caucasian male presented to the joint infertility outpatients clinic with primary infertility. His medical history included hypertrophic cardiomyopathy (HCM) due to genetically confirmed MYH7 sarcomere protein mutation, treated with implantable cardioverter-defibrillator while his partner was a healthy 24-year-old Caucasian nulliparous female. Initial investigations showed hypertestosteronemia (Testosterone: >...

Background: Multiple Endocrine Neoplasia Type 1 (MEN1) is a rare autosomal dominant syndrome that predisposes individuals to multiple endocrine tumours, predominantly affecting the parathyroid, anterior pituitary and pancreatic islet cells. This unusual case shows features of three of the main MEN1 tumour types, yet genetic testing was negative for the MEN1 mutation.Case esentation: A 56-year-old lady first presen...

A 65 year old government officer presented to ophthalmologist with sudden visual loss in the right eye. Noted to have a retinal haemorrhage and significantly elevated blood pressure. GP was asked to investigate further.For reasons unclear yet fortuitous, the initial imaging arranged was a CT CAP which demonstrated a large adrenal mass (9 cm well defined, heterodense, retroperitoneal right soft tissue mass of 40&#1...

Background: Adrenocortical carcinoma (AC) is relatively rare (0.02–0.2% of all cancer-related deaths), and can have protean clinical manifestations. Majority of cases are metastatic at the time of diagnosis, with the local periadrenal tissue, lymph nodes, lungs, liver, and bone as commonest sites of spread. Early detection of tumors is crucial for curative resection.Case: A 63-year old Nigerian businesswoman ...