Endocrine Abstracts

We present a case of a 50 year old patient with sepsis and a significant and symptomatic hypercalcaemia of 3.38 mmol/l with a background of MS. The infection responded to treatment however the hypercalcaemia persisted despite appropriate measures. Further investigation showed a suppressed PTH, normal ACE level, electrophoresis and 25(OH) vitamin D level, but found her to be thyrotoxic with TSH suppressed at <0.01, free T4 – 37.2 nmol/l, free T3 – 212 nmol/l. She ...

Objectives: To define clinical and metabolic factors associated with severe hypoglycaemia (SH) in affected individuals with Type 1 diabetes (T1DM).Methods: Individuals with T1DM and SH (defined as hypoglycaemia requiring third party intervention within the preceding 12 months) were characterised to include screening for other underlying autoimmune disease (coeliac serology, short synacthen and thyroid function tests); a questionnaire to evaluate underlyi...

Background: Women affected by polycystic ovary syndrome (PCOS) frequently suffer from obesity, insulin resistance and impaired glucose tolerance. There is evidence showing an association of hypovitaminosis D with metabolic disturbances in PCOS women. We aimed to investigate the influence of vitamin D supplementation on metabolic and endocrine parameters in PCOS women.Design: Forty-eight women with PCOS were included in the study. Cholecalciferol was admi...

Clinical CaseA 19-year old ethnic Pakistani presented with severe, longstanding hirsutes without virilisation. Menarche had occurred at age 14, following which she had experienced 4-6 periods a year. She had always been “underweight” by UK/WHO criteria and, given a BMI of 16.5 kg.m−2, there were concerns about hypothalamic oligomenorrhoea.InvestigationsFasting glucose 5.5 mmol/L &#...

Objective: To compare clinical characteristics in individuals with established Type 1 diabetes mellitus with and without altered hypoglycaemia unawareness (AHA) / severe hypoglycaemia (SH).Methods: Individuals with AHA and/or SH and controls matched for age, sex and duration of diabetes but with no history of AHA or SH were identified from databases of those attending the Newcastle Diabetes centre with Type 1 diabetes. Characteristics were confirmed from...

Aim: Increased cardiovascular incidents and a high risk for microvascular complications are associated with type 2 diabetes. Worldwide, metformin is the most commonly prescribed antidiabetic drug. Polymorphisms in the Oct1 gene can alter the function or activity of organic cation transporter 1 (Oct1), thus changing metformin efficacy (Oct1 acting as its main transporter) as well as influencing the actions of Oct1 physiological substrates. In the past, polymorphisms in...

Introduction: Polycystic ovary syndrome (PCOS) is a common endocrine disorder affecting about 5-10% of women. PCOS is characterized by hyperandrogenism, ovulatory disturbances, and polycystic ovaries. Many women with PCOS present with insulin resistance and central obesity and are at an increased risk for developing diabetes and cardiovascular disorders. Vitamin D deficiency is an important pathogenetic factor in the development of type II diabetes. The aim of the study was to...

Familial expansile osteolysis is a rare autosomal dominant disorder of bone, first described in a kindred from Northern Ireland in 1988. There are histological similarities to Paget's disease but the disorder typically presents in the young.Case report: Our patient presented at 15 years of age with sensorineural hearing loss, skeletal pain, gingival hypertrophy and mobile teeth. Neither parent was similarly affected. Radiographs demonstrated tooth root r...

We present a case of a 44-year-old female with fluctuating thyroid function over 12-14 years. The patient originally presented with a high TSH, normal free T3/T4 and a negative anti-TPO antibody. She was initially monitored, then went onto Levothyroxine replacement in an antenatal setting. Subsequently, 12-18 months later, she presented with hyperthyroid symptoms and vastly elevated TSH-receptor-antibody (TSHR-ab) titre of >10 IU/L, the upper limit of normal being 2.9 IU/L...

The proline rich and Gla domain genes PRRG1-4 encode for short transmembrane proteins. PRRG proteins contain a Gla domain with glutamic acid residues which are gamma-carboxylated in a vitamin-K-depend manner. In a previous study, we were able to show a decrease in PRRG1 gene expression during intima thickening in atherosclerosis. In this study, we investigated the association of single nucleotide polymorphisms (SNPs) in the vitamin-K-dependent protein PRRG1 with cardiovascular...