Endocrine Abstracts

Noradrenaline (NE) is a peripheral vasoconstrictor reducing mortality by 11% and major adverse events by two-thirds compared to dopamine [1]. NE acts as an agonist at alpha1 and beta1 receptors, with little-to-no beta2 or alpha2 activity. This vasoconstriction effect can be potent and can result in completely occluded blood vessels more frequently in the peripheries due to lower blood pressure. Septic shock accounts for nearly 1 in 10 admissions to ICU, where it is the most co...

• A 54-year old Lithuanian man presented with symptomatic hyperglycaemia and weight loss.• A diagnosis of new onset diabetes type 2 was confirmed for which he received treatment. In addition, his serum potassium remained low despite of intervention.• CXR was done and showed a bulky right sided hilar mass.• The combination of refractory hypokalaemia, hyperglycaemia, and lung cancer suspicio...

23-year-old scaffolder, fit and well, presented several times to A&E with episodes of fitting which comprised of an energy surge followed by typical neuroglycopenic and autonomic signs of hypoglycaemia. He was only found to be hypoglycaemic after a severe episode where paramedics were called to his home and discovered his blood sugars to be 1.8 mmol/l with a serum insulin was measurable. His symptoms were moderately relieved by eating a combination of sugary food like hone...

A 50-year-old lady presented with fatigue, tiredness and constipation, has more than twenty years history of hypercalcemia. She was clinically and biochemically diagnosed as familial hypocalciuric hypercalcemia with high calcium, normal parathormone, low urinary calcium, low fractional excretion of calcium, positive family history. Genetic confirmation was done by positive molecular genetic analysis of CASR gene. She has persistent high calcium level ranging between 2.8 and 3....

Puberty, a crucial biological process, ends up in sexual maturation, reproductive capability and adult body size. It is controlled by hypothalamo–pituitary–gonadal axis (HPG), where hypothalamus synthesizes and secretes gonadotropin releasing hormone, which stimulates the adenohypophysis to produce follicle stimulating hormone (FSH) and luteinizing hormone (LH). FSH causes formation of sperms and LH stimulates production of testosterone (T). Puberty needs an intact H...

Female with primary hypogonadism have inadequate function of the ovaries, with impaired production of germ cells (eggs) and sex hormones (oestrogen and progesterone). We recently came across a 22-year old female with short stature in childhood and adulthood she received growth hormone treatment (due to arrested puberty) between 3-5 years of age and further treatment at age of 10 years. She had history of IUGR, primary amenorrhoea, sensorineural deafness, congenitally missing t...

A 59-year-old woman with 46XY complete androgen insensitivity syndrome was referred back to our service. She also has history of hypertension and migraines. She was gonadectomised at the age of 15 years and treated with Ethinylestradiol. She married and was able to have enjoyable sex without the need for vaginoplasty or dilators. However, at 54 years she was firmly advised to stop Ethinylestradiol due to satisfactory bone density and “risks of HRT outweighing benefits&#14...

Introduction: Patients with hypothyroidism are routinely advised to take levothyroxine without food or beverages but the pharmacokinetic effect of many common foods are unknown. We describe a patient with an unusually high levothyroxine requirement who only achieved adequate replacement by taking grapes along with levothyroxine. Through a cycle of challenge, withdrawal, and-re-challenge, we were able to demonstrate that levothyroxine availability was enhanced by grapes in this...

We report an interesting case of a rare presentation of hypercalcemia in a 27-year-old pregnant woman with history of Uterine fibroids. The patient arrived at the emergency department with two weeks history of worsening lower abdominal pain. She had resorted to sleeping in a sitting position due to the intensity of pain. There was no vaginal bleeding and bowels were not opened for four days. Physical examination revealed dehydration, tenderness in the lower abdomen with an abd...

Of 563 genes involved in multiple processes of development of hypothalamo-pituitary-gonadal (HPG) axis during embryogenesis, mutations in 62 genes cause delayed puberty. We selected 6 of 37 delayed puberty patients for whole exome sequencing (WES) based on advanced age (>18 years) and severity of disease symptoms. Genomic DNA extraction was done using Qiagen kit at Institute of Biomedical and Genetic Engineering, Islamabad, Pakistan. DNA samples were taken to ANZAC Researc...