Endocrine Abstracts

2-Methoxyoestrogens are emerging as a new class of anti-neoplastic agents. 2-Methoxyoestradiol (2-MeOE2), an endogenous oestrogen metabolite, has shown anti-proliferative effects in ER+ve and ER-ve breast cancer cell lines. In this study we have investigated the effects of sulphamoylated derivatives of 2-MeOE2, 2-methoxyoestradiol-3-O-monosulphamate (2-MeOE2MATE) and 2-methoxyoestradiol 3,17 bis sulphamate (2-MeOE2bisMATE) in ER-ve MDA-MB-231 cells. Both 2-MeOE2MATE and 2-MeOE...

Introduction: Therapeutic durability of GLP1-based therapies in patients with type 2 diabetes mellitus (T2D) is incompletely understood. Our aim was to explore the therapeutic effects of GLP1 based therapies in patients with T2D.Methods: This was a retrospective study on patients with T2D (n=55) who attend a specialist clinic at UHCW, Coventry, and who had been treated with the GLP1 based therapy, Liraglutide, for at least 6 months. A successful...

We have studied clinical and pre-clinical models to investigate neuroendocrine tumour (NET) development and efficacy of novel therapy for NETs. We focused on multiple endocrine neoplasia type 1 (MEN1), an autosomal dominantly inherited condition characterised by the combined occurrence of pancreatic islet and anterior pituitary NETs with parathyroid and adrenocortical tumours. MEN1 is due to MEN1 gene mutations that inactivate Menin, a tumour suppressor. Our clinical studies r...

Phaeochromocytomas (Phaeo) and paragangliomas (PGL) are rare catecholamine producing tumours. It can be difficult to predict their malignant potential and patients can sometimes present with metastatic disease many years after their original diagnosis (1). Therefore, we offer a single dose of adjuvant 131I-Metaiodobenzylguanidine (131I-MIBG) to subjects felt to be at higher risk of local recurrence (demonstration of capsular or vascular invasion on pathol...

A 38-year-old lady, who was 9 months post-partum, presented in 2008 with hirsutism, acne and abdominal discomfort. She was virilised and had an easily palpable right upper quadrant mass. Biochemistry revealed mild hypokalaemia (K 3.3 mmol/l), low albumin and gross elevation of serum androgens (androstenedione 93.9 nmol/l, DHAS 37.7 μmol/l and testosterone 13.7 nmol/l). UFC was 380 nmol/24 h but following 1 mg dexamethasone, cortisol suppressed fully. Urine steroi...

A 38-year-old lady presented in 2003 with a 2 years history of recurrent pneumonia, with CXR having demonstrated intermittent right lower zone consolidation. CT of chest revealed dense right lower lobe consolidation and a 2.5 cm tumour occluding the right lower lobe orifice was found on bronchoscopy. Strongly positive immunohistochemical staining for chromogranin, NCAM, PGP 9.5 and synaptophysin suggested carcinoid so right lower and middle lobectomy was performed. Histology c...

Vandetenib has been used as novel treatment of locally invasive medullary carcinoma of thyroid. We report the use of Vandetenib in a paediatric patient with inoperable medullary carcinoma of thyroid gland. Our patient presented to the dental surgeons at age 12 years with tongue and lip swellings. Biopsy demonstrated mucosal neuromas suggestive of MEN2B. He was clinically euthyroid but had a firm goitre. Ultrasound showed a large heterogenous thyroid mass encasing the common ca...

A 64-year-old man (HM) was admitted to our local hospital with transient dysarthria and right hemiparesis; formal blood glucose was 2.2 mmol/l on admission. During his in-patient stay, he had frequent episodes of hypoglycaemia. Further questioning revealed a 4 week history of recurring dizzy spells which improved on eating.Cerebral imaging and adrenal function were normal and so the patient underwent further investigations (summarised below) which confir...

The multiple endocrine neoplasia type 1 (MEN1) gene, which when mutated gives rise to parathyroid, pancreatic and pituitary tumours, has been shown to have a role in embryogenesis, as Men1-null mice (Men1−/−) are embryonic lethal by 12.5 days post coitum (dpc). MicroRNAs (miRNAs) are emerging as potent regulators of early mammalian embryogenesis, and we therefore undertook expression profiling of miRNAs in Men1+/+ and M...

Familial juvenile hyperuricaemic nephropathy (FJHN), an autosomal dominant disorder characterised by raised serum urate, reduced fractional excretion of uric acid (FEUA), a urine concentrating defect, and progressive renal failure, is caused by mutations in the UMOD gene, encoding uromodulin (Tamm–Horsfall glycoprotein). The FJHN-causing UMOD mutations are missense mutations (>90%) or inframe deletions (<10%), and none result in prematurely truncated...