Publications by authors named "K Pacak"
Context: Pheochromocytomas and paragangliomas (PPGLs) are rare endocrine tumors that frequently produce catecholamines. Catecholamine-induced cardiometabolic complications substantially contribute to increased morbidity and mortality in PPGL patients prior to surgical resection.
Objective: To determine whether markers of elevated cardiometabolic risk persist in patients following PPGL resection.
Purpose: To investigate the influence of germline succinate dehydrogenase (SDHx) pathogenic variants on 6-[F]-fluoro-3,4-dihydroxyphenylalanine (F-DOPA) Positron Emission Tomography (PET) radiomic signature of head and neck paragangliomas (HNPGLs).
Methods: Forty-seven patients (20 SDH pathogenic variants carriers) harboring 55 HNPGLs were retrospectively included. HNPGLs were delineated using Nestle adaptive threshold.
Genetics of urinary bladder paragangliomas: a multi-center study of a Chinese cohort.
J Endocrinol Invest
December 2024
Article Synopsis
- The study explores the genetic characteristics of urinary bladder paragangliomas (UBPGLs) in a cohort of 70 Chinese patients, aiming to better understand their heritability and genetic variations.
- Results show that 38 patients had pathogenic variants (PVs), mainly in cluster 1A genes like SDHB and HRAS, with UBPGLs showing higher PV rates in cluster 1A compared to non-head and neck PGLs.
- The findings indicate a diverse genetic profile among Chinese patients with UBPGLs, emphasizing the necessity for genetic testing to identify significant pathogenic variants.
Background: Thymic neuroendocrine tumor as a cause of Cushing syndrome is extremely rare in children.
Case Presentation: We report a case of a 10-year-old girl who presented with typical symptoms and signs of hypercortisolemia, including bone fractures, growth retardation, and kidney stones. The patient was managed with oral ketoconazole, during which she experienced adrenal insufficiency, possibly due to either cyclic adrenocorticotropic hormone (ACTH) secretion or concurrent COVID-19 infection.