Endocrine Abstracts

Background: Recent studies have suggested that an increased level of serum IGF-1 and a decreased level of IGFBP-3 may be associated with an increased risk of developing subsequent breast cancer. However, it is uncertain whether these effects are mediated solely by endocrine actions or whether local effects might also be important. We have previously demonstrated IGF-1 mRNA to be universally expressed in normal breast tissue but in only 50% of cancers. The expression of IGFBP-3...

Background: IGF-1 is a ubiquitous growth factor that has been shown to play an important role in breast tissue development and tumorigenesis. Previously we have shown that IGF-1 expression is lost in approximately 1/3 of breast carcinomas. It is unsure whether this indicates the existence of a subset of breast cancers that may behave differently clinically and on a molecular level. Aims: To assess and quantify the mRNA expression of (i) Cox-2 and c-myc, genes imp...

Aberrant pseudoexon inclusion is rarely recognised as a cause of human disease. Here we report two novel, compound heterozygous mutations in nicotinamide nucleotide transhydrogenase (NNT), one of which activates a pseudoexon, as the cause of familial glucocorticoid deficiency in two siblings. Whole-exome sequencing identified a single novel, heterozygous variant (R71X) in both affected individuals. Follow-up cDNA analysis identified the pseudoexon inclusion (p.P998_D9...

Background: Serum IGF-I and IGFBP-3 levels respectively have a positive and negative association with subsequent risk of breast cancer. The anti-oestrogen tamoxifen is widely used as adjunctive therapy after resection of primary breast tumours. Tamoxifen has been reported to influence serum IGF-I, although its effects on BP-3 are unknown. The effects of tumour resection itself on IGF-I and BP-3 levels are unclear.Aims: To determine the effects of surgery...

Background: The GH/IGF-I axis has been implicated in the development of breast cancer. However the regulation of local expression of the GH/IGF-I axis in breast tissue is unknown. In vitro studies have suggested an inhibitory effect of ghrelin on the proliferation of breast cancer cell lines, although the mechanisms for this action are unknown.Aims: Using a physiologically relevant culture system for breast tissue explants, to investigate the effects of ...

Primary aldosteronism (PA) is an important cause of hypertension which confers significant cardiometabolic risk. In approximately half of cases, the cause is a surgically resectable unilateral aldosterone-producing adrenal adenoma, making PA the most common potentially curable form of hypertension. Despite this, long-term data on surgical outcomes that could be used to guide discussions with patients are sparse. Here, we report on clinical outcomes several years post-adrenalec...

Objective: The aim of the study was to describe the surgical management of phaeochromocytomas and paragangliomas which lie in close proximity to or involve the great vessels including the aorta and vena cava.Design: Retrospective case-series. Patients: five subjects undergoing surgical excision of either a phaeochromocytoma or paraganglioma involving the great vessels seen at St Bartholomew’s Hospital, UK (2004–2013).Meas...

Differentiating aldosterone-producing adenomas (APA) from bilateral adrenal hyperplasia (BAH) as a cause of Conn’s syndrome (CS) is crucial for appropriate management. We have prospectively evaluated the relative contributions of PST, adrenal imaging by Computed Tomography (CT) and AVS in the differential diagnosis of CS.We investigated 25 consecutive patients with CS referred to our unit with an identical protocol. Every patient underwent PST, CT a...

Background: Standard trans-peritoneal adrenalectomy has disadvantages, which are minimised by a less invasive procedure, but laparoscopic adrenalectomy is time consuming and unsuitable for large or malignant tumours.Aims: To evaluate our experience of all laparoscopically assisted mini-adrenalectomy using a subcostal incision 10 cm or less, since July 1999.Methods: Data were collected on wound size, operative time, blood loss (fall...

Medullary thyroid carcinoma (MTC) is a rare malignancy which has often metastasised at time of diagnosis. Surgical resection represents the only prospect for cure. However, debulking neck surgery may be beneficial in advanced cases. Prophylactic surgery is increasingly undertaken in asymptomatic patients with known mutations in the RET oncogene. The aim was to describe the outcome following initial surgical treatment for MTC at our institution. We performed a retrospe...