Endocrine Abstracts

Background: Patients with Phaeochromocytomas (PCC) have been found to carry germline mutations in 40% of cases. The number of known susceptibility genes has risen sharply in recent times, from six to sixteen since 2009. We present a patient who was found to have a mutation in Myc Associated Protein X (MAX), one of the newly identified inherited susceptibility genes.Case Presentation: A 16-year-old female presented with paroxysmal episodes suggestive of c...

Background: Patients with Phaeochromocytomas (PCC) have been found to carry germline mutations in 40% of cases. The number of known susceptibility genes has risen sharply in recent times, from six to sixteen since 2009. We present a patient who was found to have a mutation in Myc Associated Protein X (MAX), one of the newly identified inherited susceptibility genes.Case Presentation: A 16-year-old female presented with paroxysmal episodes suggestive of c...

Case: A 69 year old gentleman with a past medical history of essential hypertension presented to medical services with symptoms of weight loss, muscle weakness and fatigue. Following blood tests, a CT scan, liver biopsy and biochemical screening, a metastatic phaeochromocytoma was diagnosed. He was commenced on alpha and beta blockade. Further imaging, including a MIBG scan, showed non-resectable disease therefore he underwent therapeutic MIBG treatment. Following a good respo...

Succinate dehydrogenase subunit B (SDHB) mutations are associated with a high risk of developing pheochromocytomas, paragangliomas and renal cell tumours. The risk of malignancy is also higher than that of other SDH mutations.A 23-year-old woman was referred to endocrine clinic following confirmation of an SDHB mutation. Her family was screened when a relative underwent a medical, prior to starting a new job, and a significant family history of renal tum...

Introduction: There are patients who remain symptomatic with hypothyroidism despite apparent adequate replacement on levothyroxine (LT4) therapy. We present an observation where monozygotic twins responded only to combination therapy with liothyroinine (LT3), and were found to have a genetic variation which may have clinical significance in thyroid metabolism.Case report: A 47-year-old female with polyglandular auto-immune syndrome (APS1) presented with ...

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...

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...

Introduction: 48,XYYY is a rare condition where two extra Y chromosomes alter the neurological, skeletal and reproductive development of the affected individual. Clinical features are usually subtle and the diagnosis is not suspected until fertility issues arise. Here, were report an adult patient with 48,XYYY in the Endocrinology Clinic.Case report: A 24-year-old male was referred to UHL Endocrinology Clinic following i...