Endocrine Abstracts

Introduction: Pheochromocytoma is an uncommon tumor. Non-classical forms can make diagnosis difficult and delay correct management strategies.Case report: A 20-years old caucasian male presented to the emergency room with unproductive cough, fever and tiredness for 7 days. He was eupneic, afebrile, BP 176/115 mmHg, 104 bpm with inspiratory crepitations in the left lung base. Leucocyte–14.1×109/l (N 70%); platelets – 659×10<...

Purpose: To genotype patients with head–neck paragangliomas (HNPGL) and evaluate the percentage and types of germ-line mutations in patients classified according to family history (FH) and clinical presentation.Design: In total, 101 consecutive patients with HNPGL were examined for mutations in SDHB, SDHC, SDHD. SDHAF2 and VHL genes by PCR/sequencing.According to a careful FH, clinical, laboratory (including meta...

Pheochromocytoma (PHEO)/paraganglioma (PGL) are neural crest-derived tumors, and about 25% of the apparently sporadic cases are due to a germ line mutation in one of the susceptibility genes. The group of these genes includes the genes encoding three of the four subunits of the SDH, and the recently discovered gene, SDHAF2/SDH5, responsible for the flavination of the SDHA subunit.Although several hypotheses have been proposed, the molecular events by whi...

The pathogenesis of pheochromocytomas (pheo) is poorly understood and malignant pheo need new treatment options. mTOR inhibitors, as sirolimus (S) and everolimus (E), are new promising antineoplastic drugs.Aim: To evaluate whether the IGF/mTOR pathways have a role in the pathogenesis and whether S and E may have antiproliferative effects in pheo.In 24 human pheo and two normal adrenal medulla (NM), we evaluated the mRNA expression ...

Background: Pheochromocytomas (Pheo) and paragangliomas (PGL) are rare, mostly benign tumors. Most of these tumors are sporadic but a significant percentage can be found as components of hereditary tumor syndromes caused by germline mutations of the VHL, RET, NF1, SDHD, SDHC, SDHB and the recently identified SDHAF2 genes. Germline mutations of these genes can be also found in several cases with apparently sporadic Pheo/PGL.<...

Objective: To evaluate pheochromocytoma that occurs in Saudi patients with MEN 2APatients and methods: Of 44 patients belonging to 5 MEN 2A families, 14 (31.8%) presented with pheochromocytoma. The following variables have been studied: clinical and diagnostic data (age, mutation, clinical features, and laboratory studies included measurements of 24-h urinary catecholamines, epinephrine, metanephrine, norepinephrine, dopamine, vanillylmandelic acid, and ...

In pheochromocytoma, intense lypolitic activity may lead to altered lipid profile, which can reverse after tumour removal.Aim: In this study, we evaluated before and at 3 months after surgery for a cathecholamine secreting tumour, a group of 19 patients diagnosed with pheochromocytoma (17) or paraganglioma (2).Patients and methods: 13 women and 6 men, aged 53.68±12.75 years (36–75), presented with a clinical picture of pa...