Endocrine Abstracts

A 68-year-old gentleman with hypertension and diet-controlled type 2 diabetes presented in September 2015 with weight loss, fatigue, low libido and cold intolerance.Blood results demonstrated secondary hypothyroidism (TSH 0.59 mU/l (reference 0.35–5.00), free T4 8.3 pmol/l (ref 9.0–21.0)), hypogonadotrophic hypogonadism (testosterone 1.0 nmol/l (ref 10.0–36.0), FSH 1.5, LH 1.1) and a modestly elevated prolactin (795 mU/l (ref <400)). S...

Breast cancer (BCa) patients who present at clinic with elevated circulating LDL-cholesterol have poor prognosis, whilst pharmacological and lifestyle interventions that lower circulating cholesterol (statins, exercise, low saturated fat intake etc.) are associated with better treatment efficacy. The molecular mechanisms that link cholesterol with chemotherapy resistance (CR) remain unexplored. Hydroxycholesterols (OHCs) activate the transcription factor LXR, and are formed in...

Hypoglycaemia is a common and potentially life threatening presentation to Emergency Departments across the UK.It is often a result of medications for treatment of diabetes but other differentials include rarer reactive and fasting causes.This case report describes a 69 year old man who initially presented with right upper quadrant pain and weight loss which then lead to a diagnosis of inoperable hepatic sarcoma. He later presented with hypoglycaemia and Whipples triad in the ...

Pituitary macroadenomas often extend to the suprasellar region, however rarely they can extend inferiorly and include erosion into the sphenoid bone, presenting unique challenges. We present a 74-year-old female who received pituitary radiotherapy in 1995 for a pituitary macroadenoma with sphenoid extension. She initially presented in 1994 with secondary amenorrhoea and hyperprolactinaemia (30,000 mu/l). She could not tolerate MRI and subsequent CT showed a pituitary macroaden...

Introduction: Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive disease characterised by ACTH resistance and isolated glucocorticoid deficiency. Mutations of ACTH receptor, known as melanocortin-2 receptor (MC2R), and melanocortin-2 receptor accessory protein (MRAP) account for approximately 25 and 15 to 20% of cases respectively. To date there is no strong evidence that heterozygous carriers have abnormal cortisol secretion.Case: We...

Introduction: There is growing evidence that 11β-HSD1 expression/activity increases with age in key target tissues including adipose tissue, bone, and skin, implicating local amplification of glucocorticoids in the pathophysiology of related disease. We have previously shown that 11β-HSD1KO mice are protected from both the adverse metabolic effects of excess glucocorticoids and age-associated muscle weakness. We investigated changes in global activity and skeletal mu...

Background: SAH is a significant cause of morbidity and mortality. Survivors report long term psychological distress, sleep disturbance, libido changes and fatigue. Previous studies describe an increased incidence of hypopituitarism.Hypothesis: Evaluation of psychological symptoms and clinical and radiological features of SAH could predict the incidence of hypopituitarism.Patients and Methods: 102 post-interventional SAH survivors ...

Introduction: In recent years a growing number of gene mutations have been identified which cause a myriad of syndromes having adrenal insufficiency as a core characteristic. The evolution of each syndrome is dependent on the variant and the particular gene affected. Common practice is for candidate genes to be sequenced individually, which can be time consuming and is complicated by overlapping clinical phenotypes. The increasing availability and cost effectiveness of whole e...

Disorders of sex development (DSDs) refer to a range of congenital disorders where the chromosomal, gonadal or anatomical sex is atypical. Patients typically present in the newborn period where ambiguous genitalia often prevents immediate gender assignment or during the adolescent period where atypical sexual development becomes apparent. Genetic testing is key in establishing the diagnosis allowing for personalised management of these patients, and can significantly reduce th...

5α-Reductase (5αR) inhibitors decrease prostatic dihydrotestosterone in benign prostatic hyperplasia (BPH) treatment; finasteride inhibits 5αR type 2, while dutasteride inhibits 5αR1 and 2. 5αRs, especially 5αR1, are also expressed in metabolic tissues regulating actions of androgens and other substrates, including glucocorticoids.Hypothesis: 5αR1 inhibition with dutasteride induces metabolic dyshomeostasis.<p class...