Endocrine Abstracts

Introduction: A Patient Held Record (PHR) has been developed for use in adolescent girls with Turner Syndrome (TS) attending a dedicated Turner Transition clinic, RHC Glasgow. The PHR has been devised to encourage knowledge of TS; medcial care and ways to maintain good health and to promote self advocacy.Aim: To assess patient acceptability and user friendliness of a PHR in adolescent girls with TS.Method: A PHR and questionnaire w...

Familial non-medullary thyroid cancer (FNMTC) constitutes about 3–9% of all thyroid cancers. One of the genes believed to predispose to non-syndromic FNMTC is FOXE1. It contains a polyalanine tract (polyAla) with a variable number (11 – 22) of alanine residues. This length polymorphism could lead to changes in the FOXE1-encoded protein (FOXE1 transcription factor) structure and predispose to papillary thyroid cancer (PTC). The aim of the st...

Introduction: Selenium supplementation is recommended for all patients with mild Graves’ orbitopathy (GO). The thyroid gland contains high levels of selenium, which has an anti-oxidant effect and a role in the metabolism of thyroid hormones. The study on which this recommendation is based was conducted in countries of a selenium-deficient region and did not measure subjects’ selenium concentrations. There is therefore no consensus on optimum dose, duration, or safety...

A 60 year old lady presented to her GP with symptoms, she described as ‘morning sickness’.She also reported nausea (better after eating), mild epigastric discomfort.Examination revealed a soft non tender abdomen, with no organomegaly.She was referred for urgent upper GI endoscopy and abdominal USS.Initial bloods showed impaired liver function,...

A 60 year old lady presented to her GP with symptoms, she described as ‘morning sickness’.She also reported nausea (better after eating), mild epigastric discomfort.Examination revealed a soft non tender abdomen, with no organomegaly.She was referred for urgent upper GI endoscopy and abdominal USS.Initial bloods showed impaired liver function,...

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...