Endocrine Abstracts

Adrenocortical carcinoma (ACC) is a rare endocrine cancer with a poor prognosis. Roughly 10–15% of all ACCs arise in patients with a predisposition to cancer development due to a germline mutation. Pediatric ACC is a well-described core malignancy of the Li Fraumeni syndrome tumour spectrum. More recently TP53 mutations have also been found in adult ACC patients. In addition recent advances in clinical and molecular genetics have identified additional familial ca...

A biobank is a repository that stores biological samples (usually human) for research. Samples comprise a range of tissues, of which the most common are blood samples. The latter are often separated into different constituents such as serum, DNA and RNA extracts at the time of initial collection. Cell lines can also be generated, thereby perpetuating material for DNA and related analyses. Generally, biological samples are stored in biobanks as part of a protocol pertaining to ...

Hypocalcaemia is a common presentation to the emergency department; patient’s symptoms vary but typically report pins and needles and muscle cramps, due to neuromuscular irritability. Other important features include ECG changes (prolonged QTc) and seizures. The most common causes are hypoparathyroidism, vitamin D deficiency and chronic kidney disease.A 25-year old male presented with symptomatic hypocalcaemia who was referred to us for follow up, a...

The question posed by this title encompasses three issues. First, certain endocrine diseases present physiologic challenges to high-intensity or endurance activities, including type 1 diabetes mellitus and adrenal insufficiency. Using carefully adjusted insulin regimens evolved in concert with training sessions, several athletes with type 1 diabetes have succeeded in elite competitions, but the endocrinologist must ‘train with the athlete’ and craft regimens that con...

Context: Hypocortisolism has been associated with increased cardiovascular risk (CVR) and mortality. Higher levels of certain inflammatory markers such as Interleukin-6 (IL6) in patients with adrenal insufficiency (AI) may partly explain the increase in CVR. Recent studies demonstrate an increased prevalence of cardiovascular disease (CVD) in patients with elevated IL-6 levels. Hypocortisolism is generally treated with glucocorticoid replacement therapy (GRT). Current GRT regi...

Introduction: Longitudinal changes in pancreatic neuroendocrine tumor (panNET) cell proliferation correlate with fast disease progression and poor prognosis. The optimal treatment strategy for secondary panNET grade (G)3, that has progressed from a previous low- or intermediate-grade to high-grade panNET G3 is currently unknown. Methods: This was a single center retrospective cohort study, aimed to characterize treatment patterns and outcomes among patie...

Thyroid dysfunction and autoimmunity are associated with adverse fertility and pregnancy outcomes. International bodies recommend routine thyroid function screening in women with history of subfertility or miscarriage. Knowledge about the frequency of, and risk factors for, thyroid disease is limited in the asymptomatic preconception population. A prospective multi-centre study of women with history of miscarriage or subfertility conducted at 49 hospitals across the United Kin...

Background: The goal of this project was to identify non-osmotic stimuli of arginine vasopressin (AVP) release during exercise. Non-osmotic AVP release can lead to severe hyponatremia in otherwise healthy marathon runners.Interleukin-1 (IL-1) increases during exercise and was shown to induce AVP in animal models. We here therefore investigated whether copeptin (a surrogate marker for AVP) increases upon exercise in young and healthy males, and whether this increase is regulate...

Disorders of sex development (DSD) are a collection of rare congenital conditions with diverse features and pathophysiology. Patients usually present at birth with atypical genitalia or with delayed puberty in adolescence. Biochemical and cytogenetic investigations may provide guidance on the underlying cause, however molecular genetic analysis is usually required to provide a definitive diagnosis and allows for personalised management of the patient. The current diagnostic se...

Klotho (KL) is a type-I-membrane protein required for FGF23 to bind FGFR1 and modulate mineral ion homeostasis. Loss of either KL or FGF23 results in severe mineralisation defects. We recently found that membrane KL is expressed in osteoblasts and osteocytes, which are major sites of FGF23 syntheses. To investigate the role of bone-specific KL in mineral ion homeostasis and the progression of bone mineralisation defects in chronic kidney disease, we generated a mouse strain wi...