Endocrine Abstracts

Background and aims: 5α reductase 1 and 2 (SRD5A1 (expressed in liver and adipose), SRD5A2 (expressed in liver) inactivate cortisol to 5α-dihydrocortisol in addition to their role in the generation of dihydrotestosterone and therefore regulate the tissue availability of cortisol. Dutasteride (dual SRD5A1 and SRD5A2 inhibitor) and Finasteride (selective SRD5A2 inhibitor) are commonly prescribed, but their potential metabolic effects have only recently been identified....

Introduction: Adrenocortical carcinoma (ACC) is an aggressive malignancy with a high rate of recurrence. Regular post-operative follow-up imaging is necessary, but associated with high radiation exposure and frequent diagnostic ambiguity. Urine steroid metabolomics has recently been introduced as a novel diagnostic tool for the detection of adrenocortical malignancy in patients with adrenal incidentalomas. Here we present the first clinical study assessing the performance of t...

Bariatric surgery for obesity remains the most effective method to achieve weight loss and improvements in mortality. However, as the number of procedures increases to match the rising burden of obesity, unusual metabolic complications are now coming to the fore. One example of this is postprandial hypoglycaemia (PPH). The incidence of PPH has been reported as <1% although this problem is underreported. A correct diagnosis is essential as the condition can be extremely dis...

Steroid sulfatase (STS) cleaves the sulfate moiety off steroid sulfates, including DHEAS, the inactive sulfate ester of the adrenal androgen precursor DHEA. Deficient DHEA sulfation, the opposite enzymatic reaction to that catalysed by STS, results in androgen excess by increased conversion of DHEA to active androgens. STS deficiency (STSD) due to deletions or inactivating mutations in the X-linked STS gene manifests with ichthyosis, but androgen homeostasis in STSD h...

Cushing’s disease (CD) and Ectopic ACTH syndrome (EAS) stem from excess circulating adrenocorticotropic hormone (ACTH) and resulting hypercortisolemia. In CD, excess ACTH is secreted from pituitary tumors, whereas excess ACTH in EAS arises from nonpituitary tumors. ACTH acts on the adrenal melanocortin type 2 (MC2) receptor to control the synthesis and secretion of adrenal hormones, including the stress hormone cortisol (corticosterone in rats) which accounts for the com...

Background: Adrenocortical tumours (adenoma or carcinoma) present in well-recognised ways: hormones excess (Cushing’s, Conn’s, virilisation) or hormonally silent with symptoms of mass effect, or found incidentally on imaging. We present 3 cases of adrenal tumours, referred to our regional adrenal multidisciplinary meeting with unusual presenting features.Case 1: post-menopausal bleeding: A previously well 57-year-old female presented with vagin...

Background: Adrenal masses are discovered in 5% of abdominal imaging scans. Accuracy of currently available imaging tests to diagnose malignancy is poor. In a proof-of-concept study (JCE&M 2011;96(12):3775-84), we had demonstrated 90% sensitivity and specificity in detecting adrenocortical carcinoma (ACC) for urine steroid metabolomics, the combination of mass spectrometry-based steroid profiling and machine learning-based data analysis. This diagnostic performance is supe...

Adrenocortical Carcinoma (ACC) is an aggressive malignancy with poor response to chemotherapy. Here we evaluated a potential new treatment target for ACC, focusing on the mitochondrial NADPH generator Nicotinamide Nucleotide Transhydrogenase (NNT). NNT has a central role within mitochondrial antioxidant pathways, protecting cells from oxidative stress. Inactivating human NNT mutations result in congenital adrenal insufficiency. We hypothesized NNT silencing in ACC cells will i...

Background: Adrenal venous sampling (AVS) is considered the gold standard for lateralisation of aldosterone production in patients with primary aldosteronism (PA). However, in some patients AVS is not technically successful and management may depend on radiological findings.Aim: To determine 1) the success rate of AVS and 2) the outcomes after surgery related to the lateralisation modality.Method: 156 patients were included who pre...

Background: Adrenal incidentalomas (AI) are found in approximately 5% of the adult population. Most AIs are benign; however, small-scale studies have indicated that 20–50% of patients harbouring a benign AI show biochemical evidence of mild autonomous cortisol excess (MACE), previously termed subclinical Cushing’s syndrome. MACE is differentiated into MACE-1 (serum cortisol after overnight suppression with 1 mg dexamethasone (1 mg-DST) 50–140 nmol/l) and MACE-2 ...