Frederick Vogel, Leah Braun, Sharmilee Vetrivel, Ru Zhang, Stephanie Zopp, Andrea Oßwald, Elisabeth Nowak, Katharina Schilbach, Martin Bidlingmaier, Petra Zimmermann, Felix Beuschlein, Michaela Hartmann, Stefan Wudy, Anna Riester, Martin Reincke
{"title":"Polymorphism in the Drug Transporter Gene ABCB1 as a Potential Disease Modifier in Cortisol-Producing Adrenal Adenomas","authors":"Frederick Vogel, Leah Braun, Sharmilee Vetrivel, Ru Zhang, Stephanie Zopp, Andrea Oßwald, Elisabeth Nowak, Katharina Schilbach, Martin Bidlingmaier, Petra Zimmermann, Felix Beuschlein, Michaela Hartmann, Stefan Wudy, Anna Riester, Martin Reincke","doi":"10.1055/a-2408-0718","DOIUrl":"https://doi.org/10.1055/a-2408-0718","url":null,"abstract":"<p>\u0000<b>Introduction</b> Endogenous hypercortisolism presents with variable phenotypes. Etiological factors accounting for the level of hypercortisolism or varying severity of associated comorbidities are lacking. Recently, the adrenal ATP-binding cassette B1 (ABCB1) gene was identified as a modulator of glucocorticoid secretion.</p> <p>\u0000<b>Objective</b> To evaluate the effect of ABCB1 polymorphism rs2032582 on steroid metabolome and clinical phenotypes in patients with endogenous hypercortisolism.</p> <p>\u0000<b>Methods</b> In this cross-sectional cohort study, 137 patients prospectively enrolled in the German Cushing’s registry were included (41 with ACTH-producing pituitary adenoma, 21 with cortisol-producing adrenal adenoma, and 75 with excluded hypercortisolism). In all patients, ABCB1 polymorphism was analyzed using a TaqMan genotyping assay, glucocorticoid metabolite excretion in 24-hour urine samples was analyzed by gas chromatography-mass spectrometry, and the clinical phenotype was assessed systematically. </p> <p>\u0000<b>Results</b> In patients with cortisol-producing adrenal adenomas, but not in patients with ACTH-producing pituitary adenomas, homozygous major allele GG of ABCB1 polymorphism rs2032582 was associated with higher overall cortisol metabolite secretion (median 13515 [IQR 10347; 25669] µg/24h vs. 9645 [6146; 10732] µg/24h in minor homo- and heterozygotes, p=0.036) and elevated major cortisol metabolites αTHF, THF and THE (9339 [6929; 17789] µg/24h vs. 6288 [4184; 7455] µg/24h, p=0.045). Moreover, these patients showed higher mean arterial pressure (116 [111; 131] mmHg in major homozygotes vs. 105 [96; 112] mmHg in minor homo- and heterozygotes, p=0.036). </p> <p>\u0000<b>Conclusion</b> The genotype of drug transporter gene ABCB1 rs2032582 polymorphism is associated with the degree of cortisol metabolite secretion in cortisol-producing adrenal adenomas and could, therefore, represent a modifier of disease severity in this context.</p> ","PeriodicalId":12241,"journal":{"name":"Experimental and Clinical Endocrinology & Diabetes","volume":"47 1","pages":""},"PeriodicalIF":1.8,"publicationDate":"2024-09-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142269386","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Activation of Follicle-Stimulating Hormone Receptor in Adrenal Zona Fasciculata Cells Promotes Cortisol Secretion: Implications for the Development of Menopause-Associated Diseases","authors":"Jing-Gen Wu, Peng Zhao, Jing Yang, Ming-Juan Wang, Jian-Hua Chen, Xiao-Yong Li, Xue Ying, Yong-Chao Lu","doi":"10.1055/a-2376-5952","DOIUrl":"https://doi.org/10.1055/a-2376-5952","url":null,"abstract":"<p>\u0000<b>Objective</b> Changes in postmenopausal hormone levels are associated with a variety of disorders. This study elucidated the mechanism by which follicle-stimulating hormone (FSH) increases cortisol production involved in development of menopause-related diseases.</p> <p>\u0000<b>Methods</b> The expression of FSH receptors (FSHRs) in murine adrenal zona fasciculata (AZF) cells and ATC7 cells was verified by immunofluorescence, western blotting and RT–PCR. The function of FSHR in promoting cortisol production was analyzed by cell culture and molecular biological methods. FSHR signaling pathways in ATC7 cells were analyzed by ELISA, qRT–PCR, and western blotting. Further, a mouse model was established by ovariectomy. Ovariectomized mice were treated with GnRHa. Ovariectomized mice initially received physiological doses of estrogen and were then injected with recombinant FSH. Then serum FSH, luteinizing hormone (LH), estradiol, and cortisol, and bone mineral density (BMD), blood pressure (BP) and heart rate (HR) were determined.</p> <p>\u0000<b>Results</b> FSHRs were expressed in murine AZF cells and ATC7 cells. FSH accelerated cortisol production through activated protein kinase A (PKA), cyclic adenosine monophosphate (cAMP)-response element binding protein (CREB), protein kinase B (PKB/AKT) and 5ʼ AMP-activated protein kinase (MAPK) signaling pathways by Gsα-coupled FSHRs in ATC7 cells. Serum FSH levels (<i>P<</i>0.001) were elevated in ovariectomized mice with concurrent increases in cortisol (<i>P<</i>0.01), areal BMD (aBMD) (<i>P<</i>0.05), volumetric BMD (vBMD) (<i>P<</i>0.05), systolic BP (SBP) (<i>P<</i>0.05), diastolic BP (DBP) (<i>P<</i>0.05), and HR (<i>P<</i>0.05). However, the administration of GnRHa suppressed the increase in FSH levels and the elevation of cortisol, aBMD, vBMD, SBP, DBP, and HR induced by ovariectomy, even in the presence of normal serum estradiol levels.</p> <p>\u0000<b>Conclusion</b> The study findings indicate that elevated FSH levels stimulate cortisol secretion, through a mechanism related to FSHRs expression in AZF cells.</p> ","PeriodicalId":12241,"journal":{"name":"Experimental and Clinical Endocrinology & Diabetes","volume":"3 1","pages":""},"PeriodicalIF":1.8,"publicationDate":"2024-09-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142257524","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Obstructive sleep apnoea and type 1 diabetes mellitus: A neglected relationship?","authors":"Theodoros Panou,Konstantinos Roukas,Konstantina Chadia,Evangelia Nena,Evanthia Gouveri,Nikolaos Papanas,Paschalis Steiropoulos","doi":"10.1055/a-2414-5487","DOIUrl":"https://doi.org/10.1055/a-2414-5487","url":null,"abstract":"Obstructive sleep apnoea (OSA) is regarded as a major health condition, progressively affecting an increased number of people around the world. The interplay between OSA and type 2 diabetes mellitus (T2DM) has been extensively studied. However, little is known on the relationship between OSA and type 1 diabetes mellitus (T1DM). This review provides an insight into the prevalence of OSA in T1DM and its relationship with diabetic complications. Studies have hitherto yielded contradictory results on the occurrence of OSA in T1DM. Indeed, the risk of OSA in T1DM has ranged from 1 in 10 T1DM subjects to more than 1 in 2 T1DM subjects. This high occurrence was confirmed both by objective polysomnography and by widely used subjective questionnaires. Multiple studies revealed the important correlation between OSA and the diabetes complications. Both microvascular (nephropathy, neuropathy and retinopathy) and macrovascular complications appear to be associated with OSA occurrence, although some associations were not significant due to inadequate data. In conclusion, T1DM subjects carry higher risk of OSA, which may be undiagnosed. Additional studies are needed to clarify the exact correlation between the 2 conditions.","PeriodicalId":12241,"journal":{"name":"Experimental and Clinical Endocrinology & Diabetes","volume":"17 1","pages":""},"PeriodicalIF":1.8,"publicationDate":"2024-09-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142257469","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Association Between Liver Fibrosis Score and Diabetic Kidney Disease: A Retrospective Cross-Sectional Study of Hospitalized Patients","authors":"Jie Zhang, Shen Chen, Zhendong Tian, Jiarui Cao, Yijie Jiao, Bangqi Wang, Shenghui Feng, Zhanpeng Luo, Qingfang Zhang, Yuanyuan Deng, Wei Cai, Jixiong Xu","doi":"10.1055/a-2280-3742","DOIUrl":"https://doi.org/10.1055/a-2280-3742","url":null,"abstract":"<p>\u0000<b>Objectives</b> To investigate the association between liver fibrosis score and diabetic kidney disease (DKD) in type 2 diabetes mellitus (T2DM).</p> <p>\u0000<b>Methods</b> A total of 897 hospitalized patients with T2DM were included in this study. Each patient completed DKD screening. Logistic regression analysis was used to assess the predictive value of non-alcoholic fatty liver disease fibrosis score (NAFLD-FS) and fibrosis-4 (FIB-4) for the occurrence of DKD and risk for DKD progression, respectively.</p> <p>\u0000<b>Results</b> The prevalence of DKD and risk for its progression significantly increased with increasing NAFLD-FS risk category. DKD prevalence also increased with increasing FIB-4 risk category. Multivariate logistic regression analysis showed that the “high-risk” NAFLD-FS had a significantly higher risk of DKD (odds ratio [OR]: 1.89, 95% confidence interval [CI]: 1.16–3.08) and risk for DKD progression (OR: 2.88, 95% CI: 1.23–6.78), and the “intermediate-risk” FIB-4 had a significantly higher risk of DKD (OR: 1.41, 95% CI: 1.00–1.98). Subgroup analysis showed that the association between NAFLD-FS and FIB-4 and DKD was significant in the female subgroup, whereas the association between the “high-risk” NAFLD-FS and risk for DKD progression was significant in the male subgroup.</p> <p>\u0000<b>Conclusions</b> NAFLD-FS and FIB-4 are strongly associated with DKD and risk for DKD progression in patients with T2DM. Additionally, sexual dimorphism exists in this association.</p> ","PeriodicalId":12241,"journal":{"name":"Experimental and Clinical Endocrinology & Diabetes","volume":"66 1","pages":""},"PeriodicalIF":1.8,"publicationDate":"2024-04-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140580974","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Glycoprotein Non-Metastatic Protein B (GPNMB): The Missing Link Between Lysosomes and Obesity","authors":"Valentina Bianco, Dagmar Kratky","doi":"10.1055/a-2192-0101","DOIUrl":"https://doi.org/10.1055/a-2192-0101","url":null,"abstract":"Abstract As a result of an unhealthy diet and limited physical activity, obesity has become a widespread pandemic worldwide and is an important predictor for the development of cardiovascular disease. Obesity is often characterized by a pro-inflammatory environment in white adipose tissue (WAT), mainly due to increased macrophage infiltration. These immune cells boost their lipid concentrations by accumulating the content of dying adipocytes. As the lysosome is highly involved in lipid handling, the progressive lipid accumulation may result in lysosomal stress and a metabolic shift. Recent studies have identified glycoprotein non-metastatic melanoma protein B (GPNMB) as a novel marker of inflammatory diseases. GPNMB is a type I transmembrane protein on the cell surface of various cell types, such as macrophages, dendritic cells, osteoblasts, and microglia, from which it can be proteolytically cleaved into a soluble molecule. It is induced by lysosomal stress via microphthalmia-associated transcription factor and thus has been found to be upregulated in many lysosomal storage disorders. In addition, a clear connection between GPNMB and obesity was recently established. GPNMB was shown to have protective and anti-inflammatory effects in most cases, preventing the progression of obesity-related metabolic disorders. In contrast, soluble GPNMB likely has the opposite effect and promotes lipogenesis in WAT. This review aims to summarize and clarify the role of GPNMB in the progression of obesity and to highlight its potential use as a biomarker for lipid-associated disorders.","PeriodicalId":12241,"journal":{"name":"Experimental and Clinical Endocrinology & Diabetes","volume":"20 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-11-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"136351760","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Aerobic Training Increases Hippocampal Volume and Protects Cognitive Function for Type 2 Diabetes Patients with Normal Cognition.","authors":"Ying Wang, Liping Wang, Juan Yan, Xiaodan Yuan, Qing Q Lou","doi":"10.1055/a-2105-0799","DOIUrl":"10.1055/a-2105-0799","url":null,"abstract":"<p><strong>Aim: </strong>To evaluate the effects of aerobic training on hippocampal volume and cognitive function in patients with type 2 diabetes mellitus (T2DM) with normal cognition.</p><p><strong>Materials and methods: </strong>One hundred patients with T2DM aged 60-75 years who met inclusion criteria were randomized into the aerobic training group (n=50) and control group (n=50). The aerobic training group received 1 year of aerobic training, while the control group maintained their lifestyle without additional exercise intervention. The primary outcomes were hippocampal volume measured by MRI and Mini-mental State Examination (MMSE) score or Montreal Cognitive Assessment scale (MoCA) scores.</p><p><strong>Results: </strong>Eighty-two participants completed the study (aerobic training group, n=40; control group, n=42). There was no significant difference between the two groups at baseline (P>0.05). After one year of moderate aerobic training, increase in total and right hippocampal volume in the aerobic training group were significantly higher than in the control group (P=0.027, P=0.043, respectively). In the aerobic group, total hippocampal volume significantly increased after the intervention compared with baseline (P=0.034). The between-group difference in the change of MMSE and MoCA scores was statistically significant (P=0.015, P=0.027, respectively). Logistic regression showed strong correlations between aerobic training and increase in total hippocampal volume (OR:1.091, [95%CI 0.969, 1.228], P=0.002), improvement of MMSE scores (OR:1.127, [95%CI 1.005, 1.263], P=0.041) or MoCA scores (OR:2.564, [95%CI 2.098.2.973], P=0.045).</p><p><strong>Conclusions: </strong>One-year moderate aerobic training increased total and right hippocampal volume and protected cognitive function for T2DM patients with normal cognition. Early intervention focusing on cognition protection should be considered for T2DM patients in clinical settings.</p>","PeriodicalId":12241,"journal":{"name":"Experimental and Clinical Endocrinology & Diabetes","volume":" ","pages":"605-614"},"PeriodicalIF":1.8,"publicationDate":"2023-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9991384","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Insulin Glargine is More Suitable Than Exenatide in Preventing Muscle Loss in Non-Obese Type 2 Diabetic Patients with NAFLD.","authors":"Lin Liu, Ruwen Wang, Jian Gao, Jianhua Yan, Jingtian Zhang, Zhitian Zhang, Jiaojiao Liu, Huandong Lin, Shengxiang Rao, Xiuzhong Yao, Weiyun Wu, Hua Bian, Xiangyu Wang, Shanshan Guo, Xin Gao, Hongmei Yan","doi":"10.1055/a-2145-1004","DOIUrl":"10.1055/a-2145-1004","url":null,"abstract":"<p><strong>Aim: </strong>This study investigated the effects of insulin glargine and exenatide on the muscle mass of patients with newly diagnosed type 2 diabetes (T2DM) and nonalcoholic fatty liver disease (NAFLD).</p><p><strong>Methods: </strong>We performed a post-hoc analysis of our previously study, a 24-week randomized controlled multicenter clinical trial (ClinicalTrials.gov, NCT02303730). Seventy-six patients were randomly assigned 1:1 to receive insulin glargine or exenatide treatment. The changes in psoas muscle area (PMA) (mm<sup>2</sup>) were obtained with the cross-sectional Dixonfat magnetic resonance images at the fourth lumber vertebra.</p><p><strong>Results: </strong>There were no significant differences in age, BMI, gender, and PMA in insulin glargine and exenatide groups at baseline. After treatment, PMA tended to increase by 13.13 (-215.52, 280.80) mm<sup>2</sup> in the insulin glargine group and decrease by 149.09 (322.90-56.39) mm<sup>2</sup> in the exenatide group (both <i>p></i>0.05). Subgroup analysis showed a 560.64 (77.88, 1043.40) (mm<sup>2</sup>) increase of PMA in the insulin group relative to the Exenatide group in patients with BMI<28 kg/m<sup>2</sup> (<i>p</i>0.031) after adjusting for gender, age, and research center. Interaction analysis showed an interaction between BMI and treatment (<i>p</i>0.009). However, no interaction was observed among subgroups with a BMI≥28 kg/m<sup>2</sup> or with different genders and ages.</p><p><strong>Conclusion: </strong>Compared to exenatide, insulin glargine can relativity increase PMA in patients with T2DM having BMI<28 kg/m<sup>2</sup> and NAFLD.</p>","PeriodicalId":12241,"journal":{"name":"Experimental and Clinical Endocrinology & Diabetes","volume":" ","pages":"583-588"},"PeriodicalIF":1.8,"publicationDate":"2023-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10645484/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9965487","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Stratifying High-Risk Thyroid Nodules Using a Novel Deep Learning System.","authors":"Chia-Po Fu, Ming-Jen Yu, Yao-Sian Huang, Chiou-Shann Fuh, Ruey-Feng Chang","doi":"10.1055/a-2122-5585","DOIUrl":"10.1055/a-2122-5585","url":null,"abstract":"<p><strong>Introduction: </strong>The current ultrasound scan classification system for thyroid nodules is time-consuming, labor-intensive, and subjective. Artificial intelligence (AI) has been shown to increase the accuracy of predicting the malignancy rate of thyroid nodules. This study aims to demonstrate the state-of-the-art Swin Transformer to classify thyroid nodules.</p><p><strong>Materials and methods: </strong>Ultrasound images were collected prospectively from patients who received fine needle aspiration biopsy for thyroid nodules from January 2016 to June 2021. One hundred thirty-nine patients with malignant thyroid nodules were enrolled, while 235 patients with benign nodules served as controls. Images were fed to Swin-T and ResNeSt50 models to classify the thyroid nodules.</p><p><strong>Results: </strong>Patients with malignant nodules were younger and more likely male compared to those with benign nodules. The average sensitivity and specificity of Swin-T were 82.46% and 84.29%, respectively. The average sensitivity and specificity of ResNeSt50 were 72.51% and 77.14%, respectively. Receiver operating characteristics analysis revealed that the area under the curve of Swin-T was higher (AUC=0.91) than that of ResNeSt50 (AUC=0.82). The McNemar test evaluating the performance of these models showed that Swin-T had significantly better performance than ResNeSt50.Swin-T classifier can be a useful tool in helping shared decision-making between physicians and patients with thyroid nodules, particularly in those with high-risk characteristics of sonographic patterns.</p>","PeriodicalId":12241,"journal":{"name":"Experimental and Clinical Endocrinology & Diabetes","volume":" ","pages":"508-514"},"PeriodicalIF":1.8,"publicationDate":"2023-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10096369","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Idiopathic Isolated Adrenocorticotropic Hormone Deficiency: A Single-Center Retrospective Study.","authors":"Chengyan Yang, Xinpei Li, Xiaoqing Ma","doi":"10.1055/a-2135-7708","DOIUrl":"10.1055/a-2135-7708","url":null,"abstract":"<p><p>Idiopathic isolated adrenocorticotrophic hormone deficiency (IIAD) is rare, with high clinical omission and misdiagnosis rates. This study retrospectively collected information on clinical presentation, laboratory findings, and treatment response of 17 patients with IIAD at Jining No. 1 People's Hospital from January 2014 to December 2022. The clinical characteristics were summarized, and the pertinent data were analyzed. As a result, most of the patients with IIAD were male (94.12%), with age at onset ranging from 13 to 80 years. The primary manifestations were anorexia (88.24%), nausea (70.59%), vomiting (47.06%), fatigue (64.71%), and neurological or psychiatric symptoms (88.24%). The median time to diagnosis was 2 months and the longest was 10 years. Laboratory tests mostly showed hyponatremia (88.24%) and hypoglycemia (70.59%). The symptoms and laboratory indicators returned to normal after supplementing patients with glucocorticoids. IIAD has an insidious onset and atypical symptoms; it was often misdiagnosed as gastrointestinal, neurological, or psychiatric disease. The aim of this study was to improve clinicians' understanding of IIAD, patients with unexplained gastrointestinal symptoms, neurological and psychiatric symptoms, hyponatremia, or hypoglycemia should be evaluated for IIAD and ensure early diagnosis and treatment.</p>","PeriodicalId":12241,"journal":{"name":"Experimental and Clinical Endocrinology & Diabetes","volume":" ","pages":"523-531"},"PeriodicalIF":1.8,"publicationDate":"2023-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10178274","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Ja Hye Kim, Yunha Choi, Soojin Hwang, Ji-Hee Yoon, Gu-Hwan Kim, Han-Wook Yoo, Jin-Ho Choi
{"title":"Clinical Characteristics and Long-Term Outcomes of Adrenal Tumors in Children and Adolescents.","authors":"Ja Hye Kim, Yunha Choi, Soojin Hwang, Ji-Hee Yoon, Gu-Hwan Kim, Han-Wook Yoo, Jin-Ho Choi","doi":"10.1055/a-2127-9292","DOIUrl":"10.1055/a-2127-9292","url":null,"abstract":"<p><strong>Objective: </strong>Adrenal tumors are generally rare in children and can be a part of familial cancer syndrome. This research was conducted to examine the clinical outcomes, histopathological results, and genetic etiologies of adrenal tumors in children and adolescents.</p><p><strong>Methods: </strong>Thirty-one children and adolescents with adrenal tumors were included. Data on clinical outcomes and endocrine and radiologic results were retrospectively analyzed. Molecular analysis was conducted in select patients according to their phenotype and family history.</p><p><strong>Results: </strong>The median age at diagnosis was 7.9 years (range: 0.8-17.8 years) with 5.1±1.8 cm of maximum tumor diameter. Adrenal adenoma (n=7), carcinoma (n=5), borderline (n=2), isolated micronodular adrenocortical disease (n=2), pheochromocytoma (n=8), paraganglioma (n=3), and ganglioneuroma (n=4) are all pathological diagnoses. The most common presenting symptom was excess production of adrenocortical hormones (n=15), including virilization and Cushing syndrome. Non-functioning adrenocortical tumors were found in a patient with congenital adrenal hyperplasia. Genetic etiologies were identified in <i>TP53</i> (n=5), <i>VHL</i> (n=4), and <i>PRKACA</i> (n=1). Patients with mutations in <i>TP53</i> were young (1.5±0.5 years) and had large masses (6.1±2.3 cm).</p><p><strong>Conclusions: </strong>This study describes clinical outcomes and the pathological spectrum of adrenal tumors in children and adolescents. Adrenocortical tumors mostly presented with an excess of the adrenocortical hormone. Patients with genetic defects presented at a young age and large size of tumors, necessitating genetic testing in patients at a young age.</p>","PeriodicalId":12241,"journal":{"name":"Experimental and Clinical Endocrinology & Diabetes","volume":" ","pages":"515-522"},"PeriodicalIF":1.8,"publicationDate":"2023-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10167089","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}