Endocrine Abstracts

A 65-year-old female, with a 4 month history of left upper quadrant discomfort, was identified as having a multi-loculated para-renal ‘cyst’ on ultrasound scanning. CT identified a 13×11×10 cm heterogeneous mass arising from the left adrenal. An enlarged ill-defined left retro-crural ‘lymph node’ was also noted. There was no history of weight loss. Past medical history was unremarkable. She was no medication. Examination was unremarkable apart fro...

In humans the most abundant source of 11 beta-hydroxysteroid dehydrogenase type 2 is the placenta, notably placental trophoblast. This enzyme catalyses the conversion of cortisol (F) to cortisone (E) and is thought to protect the fetus from maternal hypercortisolaemia, thereby impacting on fetal growth and development. During gestation placental trophoblast is exposed to dramatic changes in oxygen tensions ranging from ~2% - 12%, changes thought to be pivotal in stimulating an...

11 beta-hydroxysteroid dehydrogenase type 2 (11 beta-HSD2) is responsible for the conversion of hormonally active cortisol (F) to inactive cortisone (E), and is expressed in mineralocorticoid target tissues (kidney, colon). However, the most abundant source of this enzyme is human placenta, notably placental trophoblast where it is thought to protect the fetus from maternal hypercortisolaemia and play a role in fetal growth and development. During gestation placental trophobla...

Subtle irregularity in maternal thyroid status during the 1st trimester of pregnancy is associated with abnormalities of neurodevelopment in childhood. Both iodothyronine deiodinase and TR expression in the fetoplacental unit are fundamental in controlling active TH delivery to the fetus. Using real time RT-PCR and gene specific Taqman probes and primers, we quantified mRNA expression of the deiodinase enzymes D2 and D3, and TRalpha1, TRalpha2 and TRbeta1 in the absence and pr...

Background: Immune checkpoint therapy response rate in adrenocortical carcinoma (ACC) is only ~15%. Glucocorticoid (GC) secretion is present in ~60% of tumours, associated with adverse outcome and has been associated with an immunologically cold tumoural microenvironment. On the other hand, activation of the Wnt/ß-Catenin pathway has been suggested to contribute to reduced immune infiltration.Aims: First, we aim to improve the understanding of cellu...

Background: The Scottish Genital Anomaly Network(SGAN) is a national managed clinical network that provides care to patients with a suspected disorder of sex development(DSD). Factors that influence the decision to perform a karyotype in suspected DSD are unclear.Aim: To explore the SGAN register to study the factors that influence the decision to perform a karyotype. Variables examined included centre of presentation, examination findings and associated...

Homeobox (HOX) genes encode proteins that are important in normal foetal development. Some of these genes such as HOXA10 also appear to be involved in haematopoiesis, tumour invasion and normal uterine function. HOXA10 is sensitively regulated by hormonal changes during the menstrual cycle. In addition, knockout mouse studies have suggested a role for HOXA10 in implantation but its precise mechanism of action remains unclear. To further investigate HOXA10 function in human rep...

The health burden associated with non-alcoholic fatty liver disease (NAFLD), the hepatic manifestation of the metabolic syndrome, continues to escalate. Not only is NAFLD associated with significant liver-specific and cardiovascular morbidity and mortality, but patients are at risk of the development of hepatocellular carcinoma (HCC); a malignancy where the incidence continues to rise and there are very limited therapeutic strategies.Aldo-keto reductase ...

Primary aldosteronism (PA) is a form of endocrine hypertension characterized by autonomous aldosterone secretion. Aldosterone-producing adenomas (APAs) are a significant cause of unilateral PA, where aldosterone overproduction is driven by a somatic mutation in an ion pump or channel. Multiple studies have shown that mutations in the KCNJ5 gene are the most prevalent in PA patients suffering from the unilateral subtype, and unilateral laparoscopic total adrenalectomy ...

Background: The Scottish Genital Anomaly Network (SGAN) is a national managed clinical network for patients with a suspected disorder of sex development (DSD). The SGAN register contains data on patients with DSD in Scotland. Factors that influence the decision to perform a karyotype in these patients are unclear.Objectives: To explore the SGAN register to study the factors that influence the decision to perform a karyotype.Methods...