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Related Concept Videos

Adrenal Gland Disorders01:27

Adrenal Gland Disorders

Adrenal gland disorders manifest when the production of adrenal hormones deviates from the norm, resulting in either excessive or insufficient concentrations.
Adrenal insufficiency, characterized by insufficient cortisol and aldosterone production, leads to conditions like Addison's disease. This disorder, affecting the adrenal cortex, exhibits symptoms such as skin bronzing, dehydration, low blood pressure, fatigue, and weight loss. Congenital adrenal hyperplasia, a genetic ailment causing...
Pulmonary Hypertension: Classification and Pathogenesis01:30

Pulmonary Hypertension: Classification and Pathogenesis

Pulmonary hypertension (PH) is a severe health condition in which the mean pulmonary arterial pressure increases to 25 mmHg or more, even when the body is at rest. This high pressure in the blood vessels that transport blood from the heart to the lungs can cause various symptoms, including shortness of breath, can lead to right heart failure, and significantly affect the overall quality of life.
There are various classifications for PH, each relating to different underlying causes and also...
Hypertension III: Clinical Manifestations and Diagnostic Studies01:30

Hypertension III: Clinical Manifestations and Diagnostic Studies

Hypertension is asymptomatic and also referred to as the "silent killer" until it progresses to a severe stage or causes target organ disease. Patients may experience symptoms stemming from the strain on blood vessels and tissues in various organs or the heart's increased workload.Physical exams might show no abnormalities other than high blood pressure. Signs of vascular damage, when present, correspond to the organs supplied by the affected vessels, leading to target organ damage. For...
Hyperthyroidism II: Pathophysiology01:27

Hyperthyroidism II: Pathophysiology

Hyperthyroidism is a hypermetabolic state caused by elevated levels of thyroid hormones, triiodothyronine (T3) and thyroxine (T4). It results from dysregulation at the thyroid, pituitary, or immune system level and affects multiple organ systems.PathophysiologyThe most common cause of hyperthyroidism is Graves’ disease, an autoimmune disorder in which antibodies, specifically thyroid-stimulating antibodies (TSAb), a subtype of TSH receptor antibodies (TRAb), bind to and activate TSH receptors...
Cushing Syndrome I: Introduction01:26

Cushing Syndrome I: Introduction

Cushing syndrome refers to the collection of clinical manifestations that arise when tissues are exposed to excessive amounts of cortisol or cortisol-like medications over an extended period. Cortisol, a glucocorticoid produced by the adrenal cortex, regulates metabolism, immune responses, and the body’s adaptation to stress. When its concentration remains chronically elevated, these physiological pathways become dysregulated, resulting in the characteristic features of the syndrome.Exogenous...
Cushing Syndrome II: Pathophysiology01:19

Cushing Syndrome II: Pathophysiology

Cortisol production is normally governed by the hypothalamic–pituitary–adrenal (HPA) axis, which maintains hormonal balance through tightly regulated feedback mechanisms. Disruption of this regulatory system is central to the development of Cushing syndrome, whether the excess cortisol originates from external medications or internal pathology. Persistent cortisol elevation alters metabolism, immune function, and endocrine signaling, producing the characteristic clinical features of the...

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A Brain Tumor/Organotypic Slice Co-culture System for Studying Tumor Microenvironment and Targeted Drug Therapies
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Pheochromocytoma: a changing perspective and current concepts.

Andreas Kiriakopoulos1, Periklis Giannakis2, Evangelos Menenakos2

  • 1Department of Surgery, 'Evgenidion Hospital', National and Kapodistrian University of Athens School of Medicine, 5th Surgical Clinic, Papadiamantopoulou 20 Str, PO: 11528, Athens 11528, Greece.

Therapeutic Advances in Endocrinology and Metabolism
|November 2, 2023
PubMed
Summary

Personalized genetic testing and advanced diagnostics are crucial for timely pheochromocytoma and paraganglioma (PPGL) diagnosis. Management involves surgery, chemotherapy, or radionuclides, emphasizing a multidisciplinary and personalized approach.

Keywords:
NETtestadrenal medullaadrenal tumoradrenalectomylaparoscopic adrenalectomyneuroendocrine tumorparagangliomapheochromocytoma

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Area of Science:

  • Endocrinology
  • Oncology
  • Genetics

Background:

  • Pheochromocytoma and paraganglioma (PPGL) present variably, often lacking classic symptoms, necessitating advanced diagnostic strategies.
  • Genetic mutations account for 40-60% of PPGL cases, highlighting the importance of personalized genetic testing.
  • Catecholamine excess and mass effects are primary drivers of PPGL symptoms, impacting the cardiovascular system.

Purpose of the Study:

  • To review current concepts in the diagnosis and management of pheochromocytoma and paraganglioma (PPGL).
  • To emphasize the role of personalized genetic testing and advanced molecular markers in PPGL workup.
  • To outline optimal diagnostic and therapeutic strategies for PPGL, including imaging and treatment modalities.

Main Methods:

  • Review of current literature on PPGL diagnosis and management.
  • Analysis of diagnostic techniques including genetic testing, next-generation sequencing, metabolomics, and NETest.
  • Evaluation of imaging modalities such as CT, PET/CT, and radionuclide scans.
  • Assessment of treatment strategies including surgery, chemotherapy, and radionuclide therapy.

Main Results:

  • Personalized genetic testing and next-generation sequencing are vital for identifying mutations and advancing knowledge.
  • Free plasma/urine catecholamine metabolites measured by LC-MS/MS are first-line diagnostic tests, with personalized reference intervals.
  • CT is preferred for pheochromocytoma, while functional imaging improves accuracy for extra-adrenal, malignant, or familial PPGL.
  • Surgery is the primary treatment, with preoperative alpha-adrenergic blockade reducing morbidity; chemotherapy and radionuclides are used for metastatic or milder cases.

Conclusions:

  • A multidisciplinary approach, precise timing, and personalized strategies are essential for successful PPGL diagnosis and management.
  • Early identification of high-risk individuals and timely diagnosis using personalized methods are critical.
  • Long-term surveillance is important for asymptomatic carriers and patients to monitor for recurrence or metastasis.