Article
Endocrinology & Metabolism
Helena Hanschell, Salvador Diaz-Cano, Alfredo Blanes, Nadia Talat, Gabriele Galata, Simon Aylwin, Klaus Martin Schulte
Summary: In this study, a simple and reliable tool, the SIZEPASS criterion, was developed to predict the malignant behavior of PPGLs based on the size of the tumors. The SIZEPASS criterion showed high accuracy and sensitivity in predicting malignancy in PPGLs.
FRONTIERS IN ENDOCRINOLOGY
(2023)
Article
Endocrinology & Metabolism
Yu Cheng, Jie Li, Jingtao Dou, Jianming Ba, Jin Du, Saichun Zhang, Yiming Mu, Zhaohui Lv, Weijun Gu
Summary: This study describes three cases of hypercortisolism secondary to ectopic production of ACTH from adrenal medulla, with two cases showing Cushingoid features and all cases presenting marked hypokalemia. Surgical treatment resulted in significant decrease in cortisol levels postoperatively, highlighting the importance of controlling hypercortisolism in such patients.
FRONTIERS IN ENDOCRINOLOGY
(2021)
Review
Endocrinology & Metabolism
Georgia Pitsava, Constantine A. Stratakis
Summary: Pediatric adrenocortical hyperplasias are rare conditions characterized by Cushing syndrome and genetic defects affecting the adrenal cortex. Most cases are caused by defects in the cyclic AMP/protein kinase A (cAMP/PKA) pathway, while a few cases have unidentified genetic defects. Congenital adrenal hyperplasia, mainly due to steroidogenic enzyme deficiencies, is another cause of adrenal hyperplasia in childhood.
FRONTIERS IN ENDOCRINOLOGY
(2022)
Article
Endocrinology & Metabolism
He Ma, Ke Wang, Bingjie Lai, Xueyan Zhang, Yang Lv, Ranwei Li
Summary: This study investigates the differentially expressed proteins in clinical AMH tissue and their potential contribution to AMH development, providing insights into the mechanisms of AMH and secondary hypertension. The results reveal various differentially expressed proteins that may serve as potential targets for AMH.
FRONTIERS IN ENDOCRINOLOGY
(2022)
Article
Radiology, Nuclear Medicine & Medical Imaging
Ryan Chung, Aileen O'Shea, Ann T. Sweeney, Nathaniel D. Mercaldo, Shaunagh McDermott, Michael A. Blake
Summary: This study compared the imaging features between hereditary and sporadic pheochromocytomas, finding that hereditary pheochromocytomas are detected at a younger age and smaller size, produce lower normetanephrines, are less often symptomatic, and may less frequently show cystic change/necrosis compared with sporadic pheochromocytomas.
AMERICAN JOURNAL OF ROENTGENOLOGY
(2022)
Article
Surgery
Raisa. R. R. Gao, Nitin Chilukuri, Pnina Rokhlin, Saad Shebrain
Summary: This study evaluated the demographic characteristics and 30-day outcomes after laparoscopic adrenalectomy for functional adrenal tumors. The results showed distinct variations in patient demographics and postoperative outcomes among different types of tumors.
SURGICAL ENDOSCOPY AND OTHER INTERVENTIONAL TECHNIQUES
(2023)
Article
Medicine, General & Internal
Pengliang Shen, Nan Yin, Libin Sun, Yunfeng Liu, Xiaoming Cao
Summary: This study retrospectively analyzed the treatment process of a patient with bilateral adrenal pheochromocytoma and medullary sponge kidney with RET gene mutation. Surgical resection was found to be the most effective treatment, and laparoscopic surgery was minimally invasive, safe, and effective. Mutations in the RET proto-oncogene may lead to medullary spongy kidneys in multiple endocrine neoplasia 2.
Article
Endocrinology & Metabolism
Marta Amaro da Silveira Duval, Carla Vaz Ferreira, Laura Marmitt, Jose Miguel Dora, Mateus Espindola, Antonio Felipe Benini, Marli Viapiana Camelier, Daniel Bulzico, Fernanda Accioly de Andrade, Paulo Alonso Alves Junior, Rossana Corbo, Fernanda Vaisman, Andre Borsatto Zanella, Rafael Selbach Scheffel, Ana Luiza Maia
Summary: The aim of this study is to evaluate undetectable postoperative calcitonin (POCal) as a prognostic marker for long-term disease status in patients with medullary thyroid carcinoma (MTC). The results of the study showed that POCal is a strong prognostic marker and may help define follow-up strategies for MTC patients.
Article
Endocrinology & Metabolism
Kai Yu, Qingping Xue, Fangli Zhou, Haoming Tian, Qiao Xiang, Tao Chen, Yan Ren
Summary: The study developed a rapid and efficient diagnostic method for primary adrenal lymphoma, using clinical research and validation to construct a nomogram with good accuracy and specificity, which can effectively diagnose PAL.
FRONTIERS IN ENDOCRINOLOGY
(2021)
Article
Endocrinology & Metabolism
Ewelina Rzepka, Joanna Kokoszka, Anna Grochowska, Magdalena Ulatowska-Bialas, Martyna Lech, Marta Opalinska, Elwira Przybylik-Mazurek, Aleksandra Gilis-Januszewska, Alicja Hubalewska-Dydejczyk
Summary: This study investigated the clinical characteristics, treatment, and prognosis of hemorrhagic pheochromocytoma cases and proposed a diagnostic and treatment algorithm. The results showed that the diagnosis of pheochromocytoma should always be considered in patients with adrenal bleeding, especially those with abdominal pain, hemodynamic shock, and previous symptoms associated with pheochromocytoma. Lack of proper diagnosis before surgery increases the perioperative risk.
FRONTIERS IN ENDOCRINOLOGY
(2022)
Article
Medical Laboratory Technology
Juergen Kratzsch, Anja Willenberg, Karin Frank-Raue, Uwe Kempin, Joerg Rocktaeschel, Friedhelm Raue
Summary: In this study, three different immunoassays for PCT were used to monitor MTC patients in long-term follow-up, showing that PCT correlates well with disease status and CT results. Both CT and PCT reflected clinical state during treatment with TKI. Preoperative PCT in hereditary MTC was found to have the same diagnostic validity as CT.
CLINICAL CHEMISTRY AND LABORATORY MEDICINE
(2021)
Review
Urology & Nephrology
Fabio L. Fernandes-Rosa, Sheerazed Boulkroun, Bakhta Fedlaoui, Marguerite Hureaux, Simon Travers-Allard, Tom Drossart, Judith Favier, Maria -Christina Zennaro
Summary: Hypertension is a prevalent cardiovascular risk factor that affects a significant proportion of the general population, with the prevalence depending on age. Detecting secondary forms of hypertension is crucial as it allows for targeted management of the underlying diseases. Among hypertensive patients, around 10% are attributed to endocrine hypertension, mainly caused by adrenal diseases. Advancements in genomic and genetic studies have improved our understanding of the molecular mechanisms of endocrine hypertension, providing new opportunities for diagnosis and specific treatment. This review discusses the physiology of adrenal hormone biosynthesis and action, the clinical and biochemical characteristics of different forms of endocrine hypertension, and the impact of genetic defects on diagnosis and management, as well as the potential use of new biomarkers for improved patient care.
KIDNEY INTERNATIONAL
(2023)
Article
Medicine, General & Internal
Rosa Maria Paragliola, Alessia Perrucci, Laura Foca, Andrea Urbani, Paola Concolino
Summary: 21-hydroxylase deficiency (21OHD) is a common form of congenital adrenal hyperplasia (CAH) caused by pathogenic variants in the CYP21A2 gene. The CAH-X syndrome is a specific condition characterized by a chimeric TNXA/TNXB gene that affects patients' mobility and is associated with Ehlers-Danlos syndrome (EDS).
JOURNAL OF CLINICAL MEDICINE
(2022)
Article
Endocrinology & Metabolism
Ahmed Torky, Ninet Sinaii, Smita Jha, Jay Desai, Diala El-Maouche, Ashwini Mallappa, Deborah P. Merke
Summary: Patients with CAH have a higher prevalence of obesity, hypertension, insulin resistance, fasting hyperglycemia, and dyslipidemia during childhood and adulthood compared to the general US population, indicating an early onset of metabolic morbidity in this population. Treatment-related and familial factors play a role in the development of these metabolic conditions.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2021)
Article
Pediatrics
Patrice K. Held, Eric R. Bialk, Michael R. Lasarev, David B. Allen
Summary: This study aimed to evaluate the role of 21-deoxycortisol (21deoxy) in predicting 21-hydroxylase deficiency (21OHD) in newborns and investigate the impact of gestational age and timing of collection on 21deoxy concentrations. The results showed that 21deoxy is a key disease marker of 21OHD and can improve the accuracy of newborn screening for this disorder.
JOURNAL OF PEDIATRICS
(2022)