Endocrine tumor syndromes constitute a group of disorders characterized by tumors in hormone-producing tissues. These conditions predominantly affect younger patients and often have a familial inheritance. Advances in molecular genetics in recent decades have facilitated the identification of several genes associated with these tumors. The recent World Health Organization classification of adrenocortical tumors integrates the latest developments in pathology, oncology, and molecular biology. In addition, this updated classification includes adrenal cortical diseases based on an understanding of germline susceptibility to these conditions and their clonal-neoplastic nature. Catecholamine-secreting tumors, including pheochromocytoma and paraganglioma, have been found to have a genetic predisposition in as many as 80% of cases. Compared to sporadic cases, endocrine tumor syndromes are more likely to present bilaterally and show synchronous or metachronous disease. This highlights the critical need for early diagnosis, intervention, and ongoing surveillance. This review focuses on the clinical manifestations and genetic basis of endocrine tumor syndromes originating from the adrenal glands.
Citations
, Jaehyun Kim Endocrine causes of pediatric hypertension are relatively rare but important because of their distinct treatment options. Adrenal diseases accompanied by an excess of mineralocorticoids, glucocorticoids, and catecholamines are major causes of endocrine hypertension. Typical causes of mineralocorticoid-related hypertension include primary aldosteronism, congenital adrenal hyperplasia (11β- and 17α-hydroxylase deficiencies), and apparent mineralocorticoid excess. Cushing syndrome and pheochromocytoma/paraganglioma are the primary causes of glucocorticoid- and catecholamine-related hypertension, respectively. This review provides an overview of the diagnostic evaluations, including hormonal assays and imaging studies, used to identify the underlying causes of pediatric endocrine hypertension, focusing on adrenal disorders. It presents details regarding the major adrenal disorders and recommended therapeutic approaches, emphasizing the importance of early detection and disease-specific management to prevent cardiovascular and metabolic complications in affected children.
Citations
, Cheol Woong Yu, Young Soo Oh A 56-year-old man presented with sudden onset of congestive heart failure (New York Heart Association class III to IV) after mild stress and developed various cardiovascular manifestations. At first visit, cardiac enzyme elevation, regional left ventricular (LV) wall motion abnormality and pulmonary edema were evident. However, coronary angiography was normal. LV function was totally recovered at discharge, suspicious of fulminant myocarditis. During the hospital stay, acute non-obstructive stroke without neurologic sequelae occurred. After 3 years, he re-admitted because ventricular tachycardia and severe LV systolic dysfunction (ejection fraction, 15%) were developed. After 3 days of applying percutaneous cardiopulmonary bypass system, the patient was completely recovered. Suspicious of pheochromocytoma, we checked 24-hour urine catecholamines and metanephrines and abdomen computed tomography, which revealed pheochromocytoma. The patient underwent laparoscopic adrenalectomy.
First
Prev
