ABSTRACT
Primary glucocorticoid resistance (OMIM 615962) is a rare endocrinologic condition caused by resistance of the human glucocorticoid receptor (hGR) to glucocorticoids (GR) and characterised by general or partial insensitivity of target organs to GK. Compensatory activation of hypothalamic-pituitary-andrenal axis results in development of a various pathological conditions caused by overstimulation of adrenal glands. Clinical spectrum may range from asymptomatic cases to severe cases of mineralocorticoid and/or androgen excess. At present time, primary generalized glucocorticoid resistance has been exclusively associated with defects in the NR3C1 gene. Here, we present a case report of an adolescent patient with clinical presentation of glucocorticoid resistance confirmed by detailed endocrinologic evaluation but no confirmed mutations in the NR3C1 gene.
Subject(s)
Metabolism, Inborn Errors , Receptors, Glucocorticoid , Receptors, Glucocorticoid/deficiency , Adolescent , Humans , Receptors, Glucocorticoid/genetics , Glucocorticoids/therapeutic use , Adrenal Glands , Metabolism, Inborn Errors/genetics , Rare DiseasesABSTRACT
OBJECTIVE: To evaluate the immediate results of enucleation of pancreatic neuroendocrine tumors (pNETs). MATERIAL AND METHODS: The results of enucleation of pancreatic neuroendocrine tumors (pNETs) were analyzed in 95 patients between 2016 and 2021. Functioning tumors (mean size 16.8 mm) were found in 70 patients, non-functioning (mean size 25 mm) - in 25 patients. Intraparenchymal tumors were found in 48 people, extraorganic lesion - in 47 patients. RESULTS: There were 262 patients with pNETs who underwent various surgeries between 2016 and 2021. Various resections were performed in 167 (63.8%) cases, enucleations - in 95 (36.2%) patients. Traditional surgical approach was used in 65 patients. Pancreatic fistula occurred in 21 patients (type B - 17, type C - 4), while arrosive bleeding occurred in 6 patients with unfavorable outcomes in 2 cases. Minimally invasive surgeries were performed in 30 patients. Eight patients with intraparenchymal tumors required conversion to open surgery. Type B pancreatic fistula occurred in 5 patients that led to arrosive bleeding in 2 cases (hemostasis was provided by endovascular method). Comparison of intraparenchymal and extraorgan tumors regarding the incidence of pancreatic fistula revealed odds ratio 5.26 (95% CI 1.5355; 18.0323, p=0.0041). Postoperative mortality was 2.1%. CONCLUSION: Enucleation is advisable for highly differentiated pancreatic neuroendocrine tumors up to 2 cm. Minimally invasive enucleation is indicated for extraorgan tumors. Intraparenchymal tumors significantly increase the risk of postoperative complications.
Subject(s)
Neuroectodermal Tumors, Primitive , Neuroendocrine Tumors , Pancreatic Neoplasms , Humans , Pancreatectomy/adverse effects , Pancreatectomy/methods , Pancreatic Fistula/epidemiology , Pancreatic Fistula/etiology , Pancreatic Fistula/surgery , Neuroendocrine Tumors/complications , Treatment Outcome , Retrospective Studies , Pancreatic Neoplasms/pathology , Postoperative Complications/epidemiology , Postoperative Complications/etiology , Postoperative Complications/surgery , Neuroectodermal Tumors, Primitive/complications , Neuroectodermal Tumors, Primitive/surgeryABSTRACT
Pheochromocytoma (PCC)/paraganglioma is a catecholamine-secreting tumor of the paraganglion. The hereditary variants of PCC have been previously considered to occur in 10% of cases. The latest researches have clearly demonstrated that the hereditary cause of chromaffin tumors is revealed in a much larger number of patients. There have been the most investigated NF, RET, VHL, SDHD, SDHC, and SDHB gene mutations. New EGLN1/PHD2, KIF1B, SDH5/SDHAF2, IDH1, TMEM127, SDHA, MAX, and HIF2A gene mutations have been recently discovered. This review describes new ideas of the genetic bases of PCC. The authors discuss criteria for patient referral for genetic examination on the basis of the phenotypic.manifestations of mutations, such as a malignant course, bilateral adrenal lesion, and age at disease manifestations. Recommendations are determined for carriers to screen for the components of hereditary pathology.
Subject(s)
Adrenal Gland Neoplasms , Pheochromocytoma , Adrenal Gland Neoplasms/genetics , Adrenal Gland Neoplasms/pathology , Adrenal Gland Neoplasms/physiopathology , Disease Progression , Genetic Counseling/methods , Genetic Predisposition to Disease , Genetic Testing/methods , Humans , Membrane Proteins/genetics , Mutation , Pheochromocytoma/genetics , Pheochromocytoma/pathology , Pheochromocytoma/physiopathology , Prognosis , Succinate Dehydrogenase/genetics , Von Hippel-Lindau Tumor Suppressor Protein/geneticsABSTRACT
Pheochromocytoma (PCC)/paraganglioma is a catecholamine-secreting tumor of the paraganglion. The hereditary variants of PCC have been previously considered to occur in 10% of cases. The latest researches have clearly demonstrated that the hereditary cause of chromaffin tumors is revealed in a much larger number of patients. There have been the most investigated NF, RET, VHL, SDHD, SDHC, and SDHB gene mutations. New EGLN1/PHD2, KIF1Ð, SDH5/SDHAF2, IDH1, TMEM127, SDHA, MAX, and HIF2Ð gene mutations have been recently discovered. This review describes the most common PCC-associated syndromes in detail and considers the specific features of new mutations.
