Endocrine Abstracts

Human sulfation depends on provision of the universal sulfate donor PAPS by the two PAPS synthase isoforms PAPSS1 and PAPSS2. Mutations in PAPSS2 have been identified as a monogenic cause of androgen excess presenting with premature adrenarche and polycystic ovary syndrome, due to decreased sulfation of the androgen precursor DHEA by DHEA sulfotransferase (SULT2A1) and hence increased conversion of DHEA to active androgens (New Eng J Med 2009 360 (22)...

Background: Neuroendocrine tumors awareness is developing. Carcinoid syndrome and hormonal overproduction may be controlled with somatostatin analogues in majority of cases. However, due to unspecific symptomatology in early stages of disease, majority of cases are diagnosed when process is disseminated. Co-morbidities and coexisting diseases are present in most of patients. Bone loss may be accelerated by metastizing tumor, peptides secreted or decreased absorption of vitamin...

Purpose: Bronchopulmonary (BP) and gastroenteropancreatic (GEP) neuroendocrine neoplasms (NEN) are slow-growing tumors, which frequently express somatostatin receptors on their cell membranes. These receptors are targets for therapy with 177Lutetium-labeled somatostatin analogues.Experimental Design: Patients receive four treatments of 177Lu-DOTATATE at a dose of 7.4 GBq every 8 weeksResults: An objective resp...

With increasing numbers of survivors from cancer at a young age the issue of fertility preservation has assumed greater importance. Female fertility preservation provides significantly different challenges to that for the male. Embryo freezing is now an accepted and well-established procedure in many centres, but is not available for children who do not have a partner. Cryopreservation using vitrification of mature oocytes has become increasingly successful, but requires the p...

Chemotherapy has historically been the ‘work horse’ of medical oncology. An improved understanding of the biological behavious of neuroendocrine neoplasms has led to decision-making based on pathological characterisation of neuroendocrine neoplasms in to well-differentiated neuroendocrine tumours (NETs) vs poorly-differentiated neuroendocrine carcinomas (NECs). Platinum/etoposide has an established role in high-grade NECs with high responses, although these are often...

Nuclear receptors control gene expression by recruiting transcriptional coactivators (or corepressors). The coactivators are ‘master regulators’ that coordinately activate multiple distinct transcription factors and target genes and pathways to control major physiologic processes such as reproduction, development, inflammation, metabolism and growth. Because of their central role as regulatory ‘nodes’, coactivators are major targets in the development of nu...

An large number of clinical entities are associated with abnormal bone mineral density. On one end of the spectrum, the sclerosing bone dysplasias are characterized by an excess of bone tissue. These conditions are, in most cases, monogenic diseases with involvement of one gene resulting in a clear mode of inheritance. Molecular genetic studies over the last decennia revealed the underlying genetic causes for many of them. The pathogenic mechanism can either be a decreased bon...

Background: Due to improvements in diagnosis capabilities, there has been a recent increase in adrenal tumors, that are incidentally discovered in patients, who underwent examination by sonography (S), computed tomography (CT) and magnetic resonance imaging (MRI) The aim of this study was to define the usefulness of contrast-enhanced three-dimensional sonography in the diagnosis of nonfunctioning adrenal incidentalomas.Patients and methods<p class="a...

Although polycystic ovary syndrome (PCOS) is arguably the commonest endocrine condition, affecting 7% of women, medical students and junior doctors often find it difficult to grasp its pathophysiology. This workshop describes a paradigm to teach about PCOS and uses this framework to describe lifestyle, hormonal and metabolic strategies for the regulation of periods and optimisation of fertility.Declaration of interest: There is no conflict of interest th...

In acromegaly, an excessive GH secretion by pituitary adenoma, minimal active disease may be defined as slow progression of characteristic signs and symptoms at presence of slightly elevated or normal IGF1 levels and lack of GH suppression after glucose load. Nadir post-glucose GH level defining active disease is under permanent discussion and depends on assessment methods. IGF1 reference range is wide, must be age-adjusted and often is sex-dependent. From mid-00’s excess...