Endocrine Abstracts

Background: The Northern Ireland Clinical Research Network (NICRN) is a regional research platform, established in 2008 to support clinical trials. NICRN comprises 10 groups, one of which is diabetes and all are supported by government funding.Objective: To outline the development and achievements of this research network.Methods: The organisational structure is built around a hub and spoke design. The network is manage</st...

Background: Haploinsufficiency of the GATA3 gene located on chromosome 10p15, is well-recognised as the cause of hypoparathyroidism, sensorineural deafness and renal dysgenesis; the HDR syndrome. A number of abnormalities within the GATA3 gene have been identified, with varying phenotypic characteristics. GATA3 is associated with other abnormalities including, abnormalities of Mullerian structures, hypomagnesia, hemimegalenencephaly and diabetes mell...

We report the results of the first Europe-wide survey of patients with multiple endocrine neoplasia (MEN) disorders by the European MEN Alliance (EMENA). METHOD: An online questionnaire was distributed via patient groups, social media and health professionals. A total of 284 responses were analysed. RESULTS: 35% (n=99) UK responses and 65% (n=185) from 17 other EU countries: 68% female, 32% male (UK; 75% and 25%). Disorders represented were: MEN1 n=2...

We report the results of the first Europe-wide survey of the Quality of Care of patients with multiple endocrine neoplasia (MEN) disorders by the European MEN Alliance (EMENA).Method: An online questionnaire was distributed via patient groups, social media and health professionals. A total of 284 responses were analysed.Results: 35% (n=99) of responses were from UK patients and 65% (n=185) from 17 other EU countri...

Oestrogens impact colorectal cancer (CRC) development and proliferation. Biologically active oestrogens, oestrone (E1) and oestradiol (E2), are metabolised through hydrolysis of their sulfated forms (oestrone sulfate (E1S) and oestradiol sulfate) by steroid sulfatase (STS). We have shown that increased STS activity drives CRC proliferation via oestrogen hydrolysis. We have also identified that CRC expresses the necessary organic anion transport...

We present the case of a 28-year old woman who presented with menstrual irregularity and hirsutism since menarche at age 11. She had been diagnosed with polycystic ovarian syndrome and treated with the oral contraceptive pill for 12 years, despite BMI of 21 kg/m2. Blood pressure was 101/66 mmHg. Baseline electrolytes showed sodium 140 mmol/L, potassium 3.6 mmol/L. Short synachthen test confirmed the biochemical diagnosis of congenital adrenal hyperplasia (CAH) [cort...

The aim of this study was to investigate seasonal variation in haemoglobin A1c (HbA1c) using a retrospective population analysis linking HbA1c values to the time of year. The study cohort included 171 442 NHS patients from Scotland, UK. Patients were divided into three groups. The ‘stable group’ were defined as having a HbA1c that varied less than the tertile either side of the mean HbA1c. The ‘high summer’ was comprised of ...

Introduction: Patients presenting with isodicentric chromosome Y (idicY) formation in a mosaic karyotype can present with phenotypic features ranging from mixed gonadal dysgenesis, to females with stigmata of Turner’s syndrome. The presence of the SRY gene increases the risk of germ-cell tumours.Case report: A 12-year-old prepubertal girl was referred for evaluation of extreme short stature (height 122 cm; −4.58 SDS; weight 26.7 kg; a...

36-year-old gentleman referred by his GP with poor libido and erectile dysfunction associated with hypogonadotrophic hypogonadism. 0900 h testosterone 0.3 nmol/l (10–35), LH <0.2 IU/l, FSH 0.1 IU/l, prolactin 71 mIU/l (50–500).Symptoms started at time of break up of his marriage in 2011. No other symptoms of hypogonadism or of pituitary disease. Previously fit and well. Teetotal. On no medication. Patient an avid fitness fanatic. He had nev...

The production of oestradiol (E2) is paramount for the growth of oestrogen receptor α positive breast cancer. Various strategies have been used, including the use of enzyme inhibitors against either aromatase (AROM) or steroid sulphatase (STS), in an attempt to ablate E2 levels. Both these enzymes play a critical role in the formation of oestrogenic steroids (see figure 1) and their inhibitors are now showing success in the clinic. The studies presented here demonstrate t...