Endocrine Abstracts

Pituitary radiotherapy plays an important role in the overall management of pituitary disease, but needs discussion at an expert regional pituitary MDT. Repeat surgical exploration is increasingly performed either as an alternative to radiotherapy or to further reduce tumour bulk ahead of radiotherapy. Careful discussion with the patient on the risks and benefits of radiotherapy, and all the other options, is essential. It is best to consider the control of tumour growth and a...

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We describe four cases of Thiamine Responsive Megaloblastic Anaemia (TRMA), Rogers Syndrome. Three cases are siblings, the fourth from another family. They are all of Pakistani origin and born to consanguineous parents. All have the clinical triad of megaloblastic anaemia, non-type 1 diabetes mellitus, and sensorineural deafness.The SLC19A2 gene mutation affects the transport of thiamine, which is required for normal tissue growth and development in huma...

Following seminal observations published nearly 20 years ago, it is apparent, increasingly, that patients with pituitary disease have excess mortality due to cardiovascular, cerebrovascular and respiratory causes; with women having a worse outcome than men. Patients with craniopharygioma have the greatest risk. There does not appear to be an overall excess of death due to malignancy. Despite large retrospective and prospective database cohort analyses, the precise reasons for ...

Cushing’s disease (CD) is often severe and debilitating and is caused by a POMC-expressing corticotrope tumour autonomously secreting ACTH to cause chronic hypercortisolism. Untreated CD is associated with excess mortality. The mainstay of management remains transsphenoidal surgery, but the overall long-term remission rate is a disappointing 55–60%. Compared to surgery for other states of pituitary hormone hypersecretion, there is an excess of new hypopituitarism, it...

We describe a case of chronic hypokalaemia secondary to Gitelman's syndrome. A 17 year female presented with a 1 year history of lethargy, muscle cramps and intermittent generalised abdominal pain. She took no regular medications and had no significant past medical history or family history. She was normotensive with a significant hypokalaemic, metabolic alkalosis. Sodium=135mmol/l, potassium=2.7mmol/l, creatinine=75micromol per litre, bicarbonate=36mmol/l. The hypokalaemia pe...

An adrenal incidentaloma is a mass in the adrenal gland that is found on imaging that has been performed for reasons other than imaging the adrenal. With the increased use of axial imaging increasing numbers of lesions are found that require assessment. Adrenal incidentaloma are found in 4.5% of abdominal and thoracic CT scans. The incidence increases with age, being found in <1% of scans in those aged <20 y but in around 10% at 70 y. These adrenal masses are encounter...

Introduction: The HPA axis is essential for mammalian life. Glucocorticoids are commonly administered and long-term HPA axis suppression is a major clinical problem. Previous experiments in our lab have shown that long-term treatment with glucocorticoids cause silencing of tpit, a pituitary-specific master regulator of the key player in HPA axis regulation – propiomelanocortin (pomc). Even after withdrawal of treatment tpit expression is silence...

Introduction:: The HPA axis is essential for mammalian life. Proopiomelanocortin (POMC), expressed in corticotroph cells of the pituitary, is the master activator of the axis, and a classical negative feedback loop exists whereby glucocorticoids from the adrenals repress its expression. Glucocorticoids are commonly prescribed medicines (10 million prescriptions in UK per year), but when used long-term, suppression of the HPA axis is a major side effect, with risk of life-threa...

Background - Adverse fetal nutritional supply results in programmed endothelial dysfunction and hypertension in offspring. Nitric Oxide Synthase (eNOS), Endothelin-1 (ET-1), and human Cationic Amino acid Transporter-1 (hCAT-1) are key players in endothelial function. We have shown that hCAT-1 is down-regulated in smaller neonates. One possible explanatory mechanism is DNA methylation, which reduces gene expression. In mice and rat models maternal diets with altered leve...