Endocrine Abstracts

Measurements of plasma or urinary metanephrines are recommended for diagnosis of pheochromocytoma and paraganglioma (PPGL). Differences of opinion exist concerning what test offers optimal diagnostic accuracy and whether supine sampling is required for the plasma test. Whether urinary free metanephrines offer advantages over deconjugated metabolites and the relative utilities of additional measurements of methoxytyramine are also unclear. This presentation covers 25 years of e...

Introduction: Pheochromocytoma associated with pregnancy carries a great risk for adverse fetal and maternal outcome, especially when the diagnosis is missed. Symptoms can present in a wide variety regarding intensity and duration, making it difficult for the treating midwife or obstetrician to draw correct conclusions.Clinical Case: We present a case of a 29 years old patient whose third pregnancy was complicated by short, but frequent and intense spell...

This study examined whether different forms of hereditary pheochromocytoma are characterized by different catecholamine phenotypes and whether this is reflected by differences in plasma concentrations of normetanephrine, metanephrine and methoxytyramine – the respective O-methylated metabolites of norepinephrine, epinephrine and dopamine. Subjects included 154 patients with hereditary pheochromocytoma, 72 with tumors associated with von Hippel–Lindau (VHL) syndrome, ...

The adrenal gland is a crucial regulator of numerous fundamental biological processes and its hormones are essential for maintaining homeostasis in normal and stressful situations. However, the impact of hypoxia signalling on the function of the adrenal remains poorly understood. During the past years, our research group has focused on enhancing our understanding of hypoxia pathway proteins (HPPs) in the different areas of the adrenal gland. Firstly, we described a crucial rol...

Evidence indicates that the adrenals are sexually dimorphic and asymmetric. These differences may have implications for the prevalence and progression of adrenal diseases, which also show asymmetry and sexual dimorphism. The present study aims to characterize the morphological and metabolic differences associated with adrenal sex and asymmetry in mice and humans. Adrenals were compared bilaterally in male and female C57B/6NRj mice with regard to morphological and hormonal char...

Introduction: Pheochromocytomas represent rare but potential lethal tumors arising from the adrenal medulla. Early recognition and diagnosis represent a challenge due to the non-specific character of signs and symptoms. The classic presentation includes headache, sweating, palpitations and other signs and symptoms of apparent catecholamine excess occurring in paroxysms. Sympathomimetics may result in a similar presentation, potentially complicating the diagnosis.<p class="...

Pheochromocytomas (PHEOs) and paragangliomas (PGLs) are rare neuroendocrine tumors. About 30-40% of Pheo/PGLs are due to a germ-line mutation in one of the 13 main susceptibility genes which include the genes encoding the four subunits of the succinate dehydrogenase (SDH - mitochondrial complex II). In PHEO/PGL due to SDHB mutations up to 80% of affected patients develop metastatic disease and no successful cure is at present available. To obtain an experimental model resembli...

Pheochromocytomas (PHEOs) and paragangliomas (PGLs) are rare neuroendocrine tumors. About 30–40% of Pheo/PGLs are due to a germ-line mutation in one of the 13 main susceptibility genes which include the genes encoding the four subunits of the succinate dehydrogenase (SDH - mitochondrial complex II). In PHEO/PGL due to SDHB mutations up to 80% of affected patients develop metastatic disease and no successful cure is at present available. Tumor microenvironment plays a pivo...

Paragangliomas are rare neuroendocrine tumors derived from neural crest cells: if localized in the adrenal medulla they are called Pheocromocytomas (Pheo).The 30–40% of Pheo are mutated in one of the susceptibility genes among which there are genes encoding for the four subunits of the succinate dehydrogenase (SDH). Germ line mutations of SDHB are metastatic in about 80% of the cases. Surgery is the current therapy, but in presence of metastasis there is no effective trea...

Objective: To document influences of sampling of blood under supine fasting versus seated non-fasting conditions on diagnosis of pheochromocytoma using plasma concentrations of normetanephrine, metanephrine and methoxytyramine (P-NMN/MN/MTY).Design and methods: P-NMN/MN/MTY were measured by liquid chromatography with tandem mass spectrometry in 695 patients at five centers, two of which complied with requirements for supine sampling after an overnight fa...