Endocrine Abstracts

Case history: A 46-year-old headmaster with a 10-year history of hypertension presented with a BP of 164/116 mmHg on four antihypertensive drugs. He had occasional headaches, chest ‘aches’, and described one syncopal episode after an ‘exhausting rowing session’. A low plasma renin (routinely measured in our resistant hypertensives) and 26/20 mmHg fall in BP on changing hydrochlorothiazide to amiloride, led to investigations for primary aldosteronism (PA).</...

Primary Hyperaldosteronism (PA) is caused by adrenal tumours or bilateral adrenal hyperplasia (Djajadiningrat-Laanen et al., 2011) causing constitutive aldosterone production. Both germline and somatic mutations have been identified in human PA (Scholl, 2022). The commonest somatic mutations in benign tumours causing PA in humans include KCNJ5, CACNA1D, ATP1A1 and ATP2B3 (Williams et al., 2015). It is hypothesized that analogous somatic mutations arise in fel...

Aims: We set out to dispel the commonly held myth that endocrine practice in district general hospitals is dominated by thyroid disease. A local questionnaire revealed trainees felt thyroid disease made-up >50% of DGH referrals.Methods: We reviewed consecutive new patient referrals to our endocrine clinic over a 2-year period. We documented the referral and outcome diagnosis and looked at the distribution of these referrals across the areas of the en...

Introduction: Adipokines, such as resistin and fasting-induced adipose factor (FIAF), are implicated in the regulation of insulin sensitivity and regulated by nuclear receptors like peroxisome proliferator activated receptor gamma (PPARγ), and retinoic acid receptor alpha (RARα). Primarily expressed in murine fat, we also showed that these adipokines are expressed in the mouse hypothalamus, as well as in N-1 hypothalamic neurons. We hypothesized that rosiglitazone (R...

Introduction: Newly diagnosed primary hypoparathyroidism during pregnancy has been reported rarely. We recently encountered a first presentation of maternal hypoparathyroidism that was complicated by acute maternal and fetal hypocalcaemia.Clinical presentation: A 36-year-old lady presented with hypocalcaemia at delivery of her third child. While early antenatal progress was uncomplicated she was admitted at 36 weeks gestation with pre-eclampsia and supra...

In previous work we demonstrated that various adipokines, including leptin and resistin, were expressed in the hypothalamus and anterior pituitary gland. We hypothesized that a practical approach to investigate the putative central role of such factors would be to selectively silence gene expression by RNA interference (RNAi). We tested this hypothesis using model in vitro systems : C6 glioblastoma cells , which we reported express leptin, and 3T3-L1 adipocytes which are known...

In women, gonadotropin releasing hormone (GnRH) is secreted from the hypothalamus and conveyed via the portal vasculature to the anterior pituitary gland every 60-90 minutes. This binds GnRH receptor and triggers pulsatile release of gonadotrophin hormones, Follicle stimulating and Luteinising hormone (FSH and LH), which stimulate and regulate folliculogenesis. The interdependence of these events accounts for the high number of cycling disorders in women, and the origin of the...

Kyphosis is a common spinal disorder affecting up to 8.3% of the population, and associated with significant morbidity. Familial and twin studies have implicated a genetic involvement. However, the causative genes have not been identified. Studies investigating the underlying molecular mechanisms are hampered by genetic heterogeneity, small families and variable modes of inheritance displayed by different kindreds. To overcome these limitations, we investigated 12 week old pro...

Introduction: Asprosin is a novel adipokine that is released in response to fasting and can elicit orexigenic and glucogenic effects. Circulating asprosin levels are elevated in a number of cardio-metabolic diseases, including obesity and type 2 diabetes mellitus. In vitro studies have reported pro-inflammatory effects of asprosin in pancreatic β-cells and skeletal muscle cells, which appear to be mediated via a toll-like receptor 4 (TLR4) mediated pathway, and m...

This case highlights the lessons learnt from a patient who was diagnosed 37 years following presentation with abnormal Thyroid Function Tests (TFTs). Mrs ID had a subtotal thyroidectomy in 1983 for thyrotoxicosis and was started on levothyroxine. She was referred to endocrine services in 2003, and was noted to have a small goitre and abnormal TFTs. Follow up consultations concentrated on thyroxine dose adjustment and querying compliance. She had a background of COPD, CVA (2018...