Endocrine Abstracts

Introduction: Mild hypercalcaemia can present in 10–15% of hyperthyroid patients. In contrast, its incidence in B cell lymphoma is considerably less (7–8%) but its levels are much higher. We report a patient with hypercalcemia secondary to both thyrotoxicosis and lymphoma.Case report: A 55 year-old lady presented with non specific symptoms of appetite loss and lower limb weakness. Comorbidities included hypertension, diabetes mellitus, hyperlip...

Several recent studies have identified Npr2 gene mutations (encoding the guanylyl cyclase B (GC-B) receptor) as causing dwarfism and achondroplasia. Npr2 null mice have a similar bone phenotype, pituitary growth hormone deficiency and female infertility. As the endogenous ligand for GC-B, C-type natriuretic peptide (CNP) is expressed at high levels in the anterior pituitary of rats and mice, we examined whether components of the natriuretic peptide system were al...

We previously showed that progesterone (P4) regulates p53 expression and cell cycle progress in human umbilical venous endothelial cells (HUVEC) through progesterone receptor (PR) activation of extra-nuclear signaling pathways. Here, we showed that P4 activated the PR and hence increased the formation of progesterone receptor A-(PR-A)-NF-κB complex in both the cytosol and the nucleus. Chromatin immunoprecipitation demonstrated an interaction between PR and the NF-κB ...

Neuroendocrine tumours (NETs) are rare tumours that originate from neuroendocrine cells and their incidence has increased for the last 20 decades; partly because of advances in diagnostic tools, which have improved detection rates. Chromogranin A (CgA) is the most widely used biochemical tumour marker for NETs, however, its prognostic utility has been questioned due to several non-neuroendocrine causes of elevated CgA. This is the first study to assess the prognostic utility o...

Non-hodgkin lymphoma (NHL) is a hematological tumor caused by abnormal lymphoid proliferation. NHL can arise in any part of the body, including central nervous system (CNS). However, hypothalamus involvement is a rare presentation. Here, we report a case of hypothalamic infiltration of NHL Diffuse Large B-cell lymphoma (DLBCL) in a 21 years old male patient with panhypopituitarism and diabetes insipidus. The patient was admitted to the hospital with a history of nausea, vomiti...

Introduction: There are patients who remain symptomatic with hypothyroidism despite apparent adequate replacement on levothyroxine (LT4) therapy. We present an observation where monozygotic twins responded only to combination therapy with liothyroinine (LT3), and were found to have a genetic variation which may have clinical significance in thyroid metabolism.Case report: A 47-year-old female with polyglandular auto-immune syndrome (APS1) presented with ...

Hot flushes affect 70% of menopausal women and often severely impact physical, psychosocial, sexual, and overall wellbeing. Hormone replacement therapy is effective but is not without risk. Neurokinin B signalling is increased in menopausal women, and has been implicated as an important mediator of hot flushes in animals. We carried out a phase 2, randomised, double-blind, placebo-controlled, single-centre, crossover trial assessed the effectiveness of an oral neurokinin 3 rec...

Objective: Succinate dehydrogenase B (SDHB) germline mutations are associated with predominantly extra-adrenal paraganglioma (PGLs) and high rates of metastatic disease. Bladder paragangliomas are a rare form of chromaffin cell tumours arising from the bladder wall. The aim of the study is to highlight the preponderance of bladder paragangliomas associated with SDHB gene mutations.Design: Retrospective case series.Patients: Five of...

Phaeochromocytomas (PHAEO)/paragangliomas (PGL) are neuro-endocrine tumours. They may present sporadically or as the primary abnormality in a number of familial syndromes. Advances in molecular genetics have led to the identification of several PHAEO/PGL predisposing genes including VHL, NF1 and RET. Mutations in the genes encoding the subunits of Succinate Dehydrogenase (SDH) have also been reported. We describe the phenotype of a cohort of patients with a Succinate Dehydroge...

Objective: Sperm cells are produced in the testes by the Sertoli cells. These cells produce Inhibin B and they are stimulated by FSH. Can Inhibin B be a good marker of spermatogenesis? Should we use other marker (FSH?, testosterone?)Design: Prospective study.Patients: We examined 71 patients with infertility.Methods: Semen analysis and hormonal analysis was performed. Semen analysis was performed according to...