Endocrine Abstracts

A number of single nucleotide polymorphisms (SNPs) have been identified in the GHRH receptor gene. Two of these SNPs, A57T and V225I, have been found to cause an increased cAMP response to GHRH stimulation in vitro, and it has been suggested that they may be associated with the abnormal biochemistry in patients with somatotroph adenomas. The objective of this study was to clarify the frequencies of these SNPs in the normal population and in subjects with short stature. The sub...

The ACTH receptor (ACTH-R) is the second member of the melanocortin receptor family that includes five seven-transmembrane G protein-coupled receptors, and has been shown to be predominantly expressed in the adrenal cortex. It has been postulated that ACTH may regulate its own secretion through ultra-short loop feedback within the pituitary, and as ACTH-secreting adenomas are characterised by resistance to glucocorticoid feedback, they may also have dysregulated ACTH feedback....

Carney complex (CNC) is an autosomal dominant multiple neoplasia syndrome featuring cardiac, endocrine, cutaneous and neural tumours, as well as a variety of pigmented lesions of the skin and mucosa. Pituitary GH-secreting tumours are found in approximately 10% of patients with CNC. One of the genes responsible for CNC, the PRKAR1A gene, located on human chromosome 17q22-24, has recently been cloned. This represents a putative tumour suppressor gene, coding for the type 1alpha...

BACKGROUND: Cell cycle dysregulation is one of the defining features of cancer. Cyclin-dependent kinase 4 (CDK4), together with its regulatory subunit Cyclin D, governs cell cycle progression in G1 phase. CDK4 is in turn regulated by cyclin-dependent kinase inhibitors, including p16INK4A (CDKN2A). Dysregulation of the INK4A/CDK4/cyclin D complex has been established in different a variety of types of human tumours. Dominant mutations affecting codon 24 of the CDK4 gene (replac...

Background: Patients with neuroendocrine tumours (NETs) and acromegaly are commonly treated with somatostatin analogs (SSAs), such as octreotide and lanreotide depot formulations. The Pharmathen syringe is now available in several European countries and the USA for lanreotide depot injection. When using SSAs, confidence in and ease of use with syringes are important for decision-making in long-term therapy. The aim of the PRESTO 3 study was to compare nurses’ preference f...

Introduction: Phaeochromocytomas and paragangliomas (PPGL) are rare neuroendocrine tumours with no standardised protocol for treatment. 177Lu-DOTATATE peptide receptor radionuclide therapy (PRRT) is an emerging treatment option for patients with metastatic and/or inoperable PPGL, and with low toxicity. We present our experience with PRRT in advanced PPGL, treated in a ENETS Centre of Excellence.Materials and Methods: 165 patients with...

Introduction: Cushing’s syndrome is a rare endocrine disorder characterized by excess cortisol secretion. It can be caused by various etiologies, including ACTH-dependent and ACTH-independent forms. We report a case of a 78-year-old male who presented with severe hypertension, refractory hypokalemia, and severe hypercortisolaemia, diagnosed with ACTH-dependent Cushing’s syndrome with bilateral adrenal hyperplasia.Case Presentation: A 78-year-ol...

We present the case of a 54-year-old woman with known metastatic non-functional pancreatic NET since 2004 that developed new debilitating recurrent hypoglycemia in 2013. The patient presented in 2004 with disseminated malignancy. Radiology revealed a large pancreatic mass associated with multiple liver lesions and abdominal lymphadenopathy. Liver biopsy confirmed well differentiated NET. Initial treatment with cisplatin etoposide chemotherapy was poorly tolerated and discontin...

Primary hyperparathyroidism (PHP), usually due to multigland hyperplasia, occurs in >90% of patients with multiple endocrine neoplasia type 1 (MEN1). The literature is divided on the optimal surgical management for such patients. We report a retrospective cohort study on the long-term outcomes associated with limited, subtotal, or total parathyroidectomy as initial surgery for PHP in MEN1. The primary endpoint was recurrent PHP defined as an adjusted serum calcium >2.6 mmol/l ...

Context: Surgical intervention is advised in patients with multiple endocrine neoplasia type-1 (MEN-1) with non-functioning pancreatic neuroendocrine tumors (PanNET) and a size ≥20 mm. However, functioning PanNET such as patients with endogenous hyperinsulinemic hypoglycemia (EHH) due to (one or multiple) insulinomas should be treated surgically independent of size. Reliable preoperative localization of insulinomas is critical for surgical strategy.<p class="abstext"...