Endocrine Abstracts

We report the first case of familial adrenocortical carcinoma (ACC) in association with hereditary non-polyposis colorectal cancer (HNPCC) in a family with a MSH2 germline mutation.HNPCC, an autosomal dominant disorder caused by mutations in one of the DNA mismatch repair (MMR) genes, is the commonest cause of hereditary colon carcinoma, and is associated with an increased risk of certain non-colonic cancers (e.g. endometrial, ovarian, urin...

Background: Adrenal incidentalomas (AI) are identified in 4–7% of patients >40 years undergoing abdominal CT/MRI. Evidence of subclinical autonomous glucocorticoid hypersecretion (SAGH) is found in 5–10% of cases depending on the diagnostic criteria/thresholds adopted.Aim: To examine the utility of basal DHEAS measurement in the detection of SAGH in a cohort of patients with AI.Methods: Ninety-six consecutive subjects...

Congenital hypothyroidism (CH), occurs with a frequency of one in 3–4000 and is most commonly due (85%) to complete or partial failure of thyroid gland development (dysgenesis). Several transcription factors (TTF-1/Nkx2.1, TTF-2/FOXE1, PAX-8), are highly expressed in the developing rodent thyroid. We first showed that the FKHL15 gene is the human homologue of TTF-2, identifying a homozygous, loss-of-function, mutation in two siblings with CH, thyroid agenesis, clef...

Background: Acromegaly is associated with significant excess morbidity and mortality. Surgery and radiotherapy (including radiosurgery) aim to reduce the burden of growth hormone excess while preserving normal pituitary function, but their effective deployment is dependent on high quality imaging that allows accurate localization of site(s) of active de novo or residual/recurrent disease. Despite the existence of several comprehensive guidelines on the managem...

Background: Primary aldosteronism (PA) is an important, potentially curable, cause of hypertension. Distinguishing unilateral and bilateral causes is a critical step in determining who should be considered for adrenalectomy. Adrenal vein sampling (AVS) remains the gold standard for lateralisation. However, AVS is technically challenging with limited availability. To address this, we have introduced molecular imaging using PET/CT with the radiotracer [11C]Metomidate ...

Background: In a sub-group of patients with newly diagnosed pituitary adenomas, conventional MRI will fail to confidently localise the tumour. The role of molecular imaging for these patients is increasingly being recognised, both in terms of confirming diagnosis and in guiding targeted therapy; 11C-Methionine PET co-registered with volumetric MRI (Met-PET/MRCR) can enhance decision making in this group of patients. However, in some cases distinguishing t...

Primary aldosteronism (PA) arises from one or both adrenal glands and is a common cause of secondary hypertension accounting for approximately 5-12% of all hypertension. Current therapy involves mineralocorticoid receptor antagonists for bilateral disease (60%) or adrenalectomy for unilateral disease (30%). We investigate treatment planning of percutaneous adrenal ablation as an alternative definitive therapeutic modality for unilateral and bilateral disease. The main objectiv...

Introduction: Hyponatraemia is the commonest electrolyte disturbance, but is not common in young people. Here, we describe a female subject, with recurrent unexplained symptomatic hyponatraemia in whom we considered the possibility of an activating mutation in the arginine vasopressin receptor type 2 (AVPR2) as a rare cause of Syndrome of Inappropriate Anti-Diuresis (SIAD).Case: A 39 year old woman had a history of unexplained hyponatraemia (serum sodium...

Introduction: Hyponatraemia is the commonest electrolyte disturbance, but is not common in young people. Here, we describe a female subject, with recurrent unexplained symptomatic hyponatraemia in whom we considered the possibility of an activating mutation in the arginine vasopressin receptor type 2 (AVPR2) as a rare cause of Syndrome of Inappropriate Anti-Diuresis (SIAD).Case: A 39 year old woman had a history of unexplained hyponatraemia (serum sodium...

Section 1: Case history: A 69 year old man with chronic obstructive pulmonary disease was admitted with acute onset shortness of breath. A CT pulmonary angiogram revealed no focal lung abnormality but identified an incidental 40 x 32 mm left-sided adrenal lesion. An unenhanced CT, undertaken to characterise the lesion, showed a homogeneous, well-circumscribed appearance with a radiodensity of 4 Hounsfield units. Prior to involvement of the Endocrinology team, a dedicated MRI w...