Endocrine Abstracts

In 2022, a 63 year old woman was referred for assessment of a six month history of gastro-oesophageal reflux symptoms and dysphagia. Upper gastrointestinal (GI) endoscopy was normal apart from mild reflux oesophagitis. A computerized tomography (CT) scan demonstrated a 2 cm nodule medial to the caudate lobe of the liver, a 1.5 cm nodule in the right lung base and two further sub cm nodules in the right lung lobe. In terms of background, the patient had a benign breast lump und...

Endocrinologists focus on circulating and excreted cortisol for diagnosis of, and to assess severity and treatment response in, Cushing’s syndrome (Cs). However, in Cs, morbidity is mediated by excess cortisol binding to intracellular glucocorticoid (GC), mineralocorticoid (MC), and non-genomic receptors. We and others have demonstrated that 11b-hydroxysteroid dehydrogenase type 1 (HSD-1) is the source of about half of intrahepatocellular cortisol in healthy adults, patie...

We are a presenting a 57 year old male victim of recurrent metastatic melanoma who was treated surgically in 2015 by wide local excision together with right axillary dissection for axillary nodal spread. He re-presented to dermatology clinic in December 2018 with skin lesion that was histologically proven to be a BRAF-mutant malignant melanoma. CT scans at that time showed spread to mediastinal and hilar nodes. Oncology team decided to commence Iplimumab/Nivolumab combination ...

Colorectal cancer (CRC) is the third most common cancer and is one of the highest incidences and mortality tumours worldwide. Our group has previously shown that CRC favours oestradiol synthesis by increasing steroid sulfatase (STS) activity and altering 17β-hydroxysteroid dehydrogenases (HSD17Bs) expression. However, what regulates STS activity and HSD17Bs expression and activity in CRC remains unknown. In breast and prostate cancer inflammatory mediators, such as TNF&#9...

A 31-year-old man originally from Ukraine attended the clinic having been started on Carbimazole 20 mg by his GP. His symptoms included intermittent palpitations, sweating and poor sleep and they had improved since starting anti-thyroid therapy. He was originally diagnosed with thyrotoxicosis in Germany in 1999 but was not treated and he re-presented in 2005. This time he was started on Carbimazole but stopped treatment on his own accord after a month because his symptoms impr...

A 60 year old lady was diagnosed with thyrotoxicosis in 1985 (aged 28) five months postpartum. She underwent partial thyroidectomy in 1990 (age 32). Thyroid tests remained abnormal and in 1992, she underwent radio-iodine treatment requiring post-treatment. She remained under endocrine supervision and the TSH was found to be persistently elevated with normal free thyroid hormone levels (whilst on Levothyroxine). Issue with compliance and assay interference were considered. She ...

The classical paradigm of lactotroph prolactin production and release is based around tonic inhibition by hypothalamic dopamine and stimulation by factors such as estrogen. We have recently shown that conditional ablation of pituitary androgen receptor (Foxg1-Cre ARKO) surprisingly does not change the concentration of circulating gonadotrophins but increases circulating prolactin in male mice; highlighting androgen signalling as a novel negative regulator of prolactin producti...

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...