Endocrine Abstracts

Introduction: Alternative biofluids such as sweat, which can be obtained non-invasively and present a simpler matrix composition than serum/plasma or urine, may be useful for monitoring biomarkers. The long-term sampling with patches either on the chest or back can be conveniently used under both rest and exercise conditions to provide an integrated response of free biomarkers over the course of a day. The smaller sample volumes generated by sweat collection can be convenientl...

Introduction: Milk-alkali syndrome is characterized by the triad of hypercalcaemia, metabolic alkalosis, and acute kidney injury and occurs due to excessive use of elemental calcium. Despite the widespread use of proton pump inhibitors, it is the third most common cause of hypercalcaemia after primary hyperparathyroidism and malignancy.Case presentation: A previously normocalcaemic 33-year-old patient presented at 34 weeks gestation, feeling non-specific...

Background: Islet transplant into the liver is a therapy for type 1 diabetes patients experiencing severe hypoglycaemia or impaired hypoglycaemic awareness. Widespread use is not currently considered due to the requirement for immunosuppression for the lifetime of the graft, and the attrition in graft function over the following 1-5 years. Following transplant into the liver, inflammation results in >60% islet loss, with few patients achieving insulin independence. The liv...

Introduction: The XX male syndrome occurs in 1 in 20,000 births. This syndrome results from crossover between the X and Y chromosomes, which transfers the sex-determining region of the Y chromosome to the X chromosome. They lack the azoospermia factor region of the Y chromosome, which is essential for spermatogenesis; thus causing infertility.Case Description: 34-year-old gentleman was referred to endocrinology clinic for infertility and semen analysis s...

Male infertility affects 7% of the general population and in about 50% of cases the aetiology remains unknown. The routine genetic testing is based on karyotype analysis and the screening of Y chromosome deletions. For long time the role of the other sex chromosome, the X chromosome, in spermatogenesis remained largely unexplored. While both sex chromosomes are derived from a pair of autosomes around 300 million years ago, their current size and gene content differs dramatical...

Background: Affected patients with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (CAH) are often insufficiently informed about disease-specific aspects of reproduction. Reasons for lower fertility rates in female patients with CAH are hormonal dysregulations, anatomical changes resulting from virilized genital surgeries and psychosocial and psychosexual factors. Fecundity, however, is comparable to the normal population. Male patients with CAH also ha...

Background: International Diabetes Federation (IDF), in collaboration with the Diabetes and Ramadan (DAR) International Alliance proposed in 2021, IDF-DAR Practical Guidelines with a score that allows certain patients even on insulin to fast which requires regular and appropriate blood glucose monitoring.Aim: Develop a special Ramadan blood glucose self-monitoring table in order to limit the risk of acute compilations during this month.<p class="abst...

Introduction: The gut hormone peptide YY 3-36 (PYY3-36) is secreted postprandially from intestinal L-cells to signal satiety. Peripheral administration of PYY3-36 suppresses food intake in rodents and humans. PYY3-36-based drugs are therefore promising anti-obesity treatments. It has been proposed that circulating PYY3-36 supresses appetite via the Y2 receptor (Y2R) in the hypothalamic arcuate nucleus (ARC). The vagus nerve, the majo...

Introduction: Due to improved cancer survival rates, a rising number of CNS cancer survivors face late effects of therapy, such as hormone deficiencies. During adolesecence and young adulthood, specialised transition services are needed to cater for young peoples complex health needs and general needs, such as achieving independence. This study therefore audited a Teenage & Young Adult (TYA) neuro-oncology late effects clinic to identify areas of good practice and areas fo...

Metabolic syndrome and its hepatic manifestation, non-alcoholic fatty liver disease (NAFLD), are increasing in prevalence. Steroid hormones are established regulators of metabolic phenotype. 5β-reductase (AKR1D1) is highly expressed in human liver, inactivating steroid hormones, including glucocorticoids and androgens. The human AKR1D1 gene contains 9 exons; six splice variants have been identified and three lead to functional protein isoforms (AKR1D1-001, -0...