Abstract:
:Phaeochromocytomas and paragangliomas (PPGLs) are tumours of the adrenal medulla and extra-adrenal sympathetic nervous system which often secrete catecholamines. Variants of the SDHX (SDHA, -AF2, -B, -C, -D) genes are a frequent cause of familial PPGLs. In this study from a single tertiary centre, we aimed to characterise the genotype-phenotype associations in patients diagnosed with germline variants in SDHX genes. We also assessed whether systematic screening of family members resulted in earlier detection of tumours. The study cohort comprised all individuals (n = 59) diagnosed with a rare variant in SDHX during a 13-year period. Patient- and pathology records were checked for clinical characteristics and histopathological findings. We found distinct differences in the clinical and histopathological characteristics between genetic variants in SDHB. We identified two SDHB variants with distinct phenotypical patterns. Family screening for SDHB variants resulted in earlier detection of tumours in two families. Patients with SDHA, SDHC and SDHD variants also had malignant phenotypes, underlining the necessity for a broad genetic screening of the proband. Our study corroborates previous findings of poor prognostic markers and found that the genetic variants and clinical phenotype are linked and, therefore, useful in the decision of clinical follow-up. Regular tumour screening of carriers of pathogenic variants may lead to an earlier diagnosis and expected better prognosis. The development of a combined algorithm with clinical, genetic, morphological, and biochemical factors may be the future for improved clinical risk stratification, forming a basis for larger multi-centre follow up studies.
journal_name
Endocr Connectjournal_title
Endocrine connectionsauthors
Main AM,Rossing M,Borgwardt L,Grønkær Toft B,Rasmussen ÅK,Feldt-Rasmussen Udoi
10.1530/EC-20-0279subject
Has Abstractpub_date
2020-08-01 00:00:00pages
793-803issue
8issn
2049-3614pii
EC-20-0279journal_volume
9pub_type
杂志文章abstract:CONTEXT:The aim of this study was to assess the plasma leptin, adiponectin, resistin, visfatin/NAMPT, omentin-1, vaspin, apelin, TNF-α, IL-6 and RBP4 levels in relation to hormonal changes during the menstrual cycle in young, healthy, normal-weight women. METHODS:The study involved 52 young, healthy, normal-weight wom...
journal_title:Endocrine connections
pub_type: 杂志文章
doi:10.1530/EC-17-0186
更新日期:2017-11-01 00:00:00
abstract::Nonalcoholic fatty liver disease (NAFLD) is known to be associated with insulin resistance, atherosclerosis, and low serum IGF1 levels. We have described a large cohort of patients with isolated GH deficiency (IGHD) due to the c.57+1G→A mutation in the GHRH receptor gene. These subjects have increased insulin sensitiv...
journal_title:Endocrine connections
pub_type: 杂志文章
doi:10.1530/EC-14-0078
更新日期:2014-09-01 00:00:00
abstract:Objectives:The aims of this paper were to evaluate the levels of Vitamin D (VitD) in patients with heart failure (HF), compared to a control group, to assess the effects of VitD on HF outcome and to compare VitD measurement between LIAISON immunoassay and HPLC-MS-MS methods in this population. Design and Methods:We co...
journal_title:Endocrine connections
pub_type: 杂志文章
doi:10.1530/EC-18-0207
更新日期:2018-09-01 00:00:00
abstract::The current investigation examined the association between the aging-related biomarkers dehydroepiandrosterone (DHEA) and telomere length (TL) in community-recruited African-American youth. The examination of DHEA included stress reactive, basal and diurnal sampling, in order to elucidate the underlying physiological ...
journal_title:Endocrine connections
pub_type: 杂志文章
doi:10.1530/EC-16-0007
更新日期:2016-05-01 00:00:00
abstract::The purpose of this study was to assess the relationship between vitamin D receptor gene (VDR) expression and prognostic factors in papillary thyroid cancer (PTC). mRNA sequencing and somatic mutation data from The Cancer Genome Atlas (TCGA) were analyzed. VDR mRNA expression was compared to clinicopathologic variable...
journal_title:Endocrine connections
pub_type: 杂志文章
doi:10.1530/EC-17-0001
更新日期:2017-04-01 00:00:00
abstract:Background:Non-adherence to r-hGH treatments occurs in a variable percentage of subjects. One problem found when evaluating adherence is the great variability in methods of detection and definitions utilized in studies. This study assessed the level of adherence in subjects receiving r-hGH with the easypod™ electronic ...
journal_title:Endocrine connections
pub_type: 杂志文章
doi:10.1530/EC-19-0325
更新日期:2019-09-01 00:00:00
abstract:AIMS:Gestational diabetes mellitus (GDM)-induced macrosomia is predominantly characterized by fat accumulation, which is closely related to adipocyte differentiation. An unknown long noncoding RNA RP11-290L1.3, referred to as RP11, was identified to be dramatically upregulated in the umbilical cord blood of women with ...
journal_title:Endocrine connections
pub_type: 杂志文章
doi:10.1530/EC-20-0584
更新日期:2021-01-01 00:00:00
abstract:Objective:First-line chemotherapy in metastatic neuroendocrine carcinomas (NECs) is based on etoposide and platinum. However, there is no standard concerning second-line treatment. The objective of this study was to evaluate efficacy and tolerance of dacarbazine or temozolomide in metastatic digestive NEC as post first...
journal_title:Endocrine connections
pub_type: 杂志文章
doi:10.1530/EC-20-0192
更新日期:2020-06-01 00:00:00
abstract:Aims:Neprilysin degrades natriuretic peptides in circulation and is also suggested to degrade the gut hormones gastrin and cholecystokinin. Neprilysin inhibition has become a therapeutic strategy and thus a regimen in need of further testing in terms of other hormonal axes besides natriuretic peptides. The aim of this ...
journal_title:Endocrine connections
pub_type: 杂志文章
doi:10.1530/EC-19-0563
更新日期:2020-05-01 00:00:00
abstract::Classic galactosemia is a rare inborn error of galactose metabolism with a birth prevalence of about 1/30 000-60 000. Long-term complications occurring despite dietary treatment consist of premature ovarian insufficiency (POI) and neurodevelopmental impairments. We performed with the French Reference Centers for Rare ...
journal_title:Endocrine connections
pub_type: 杂志文章
doi:10.1530/EC-21-0013
更新日期:2021-01-01 00:00:00
abstract:OBJECTIVE:The European Reference Network on Rare Endocrine Conditions (Endo-ERN), operational since 2017, consists of 71 health care providers (HCPs) in 19 EU member states. Our objective was to assess education and knowledge on rare endocrine conditions. DESIGN AND METHODS:A survey was developed and sent through the ...
journal_title:Endocrine connections
pub_type: 杂志文章
doi:10.1530/EC-20-0480
更新日期:2020-12-01 00:00:00
abstract::Failure to suppress testosterone below 0.7 nM in castrated prostate cancer patients is associated with poor clinical outcomes. Testosterone levels in castrated patients are therefore routinely measured. Although mass spectrometry is the gold standard used to measure testosterone, most hospitals use an immunoassay meth...
journal_title:Endocrine connections
pub_type: 杂志文章
doi:10.1530/EC-18-0476
更新日期:2019-02-01 00:00:00
abstract::Steroid hormones play clinically important and specific regulatory roles in the development, growth, metabolism, reproduction and brain function in human. The type 1 and 2 11-beta hydroxysteroid dehydrogenase enzymes (11β-HSD1 and 2) have key roles in the pre-receptor modification of glucocorticoids allowing aldostero...
journal_title:Endocrine connections
pub_type: 杂志文章
doi:10.1530/EC-17-0119
更新日期:2017-10-01 00:00:00
abstract:BACKGROUND/AIMS:Growth failure is a difficult but key aspect of care in children with anorexia nervosa (AN). The effects of hGH therapy have not been studied. The aim was to investigate the effect of hGH treatment on height velocity (HV) in children with AN. METHODS:We carried out a retrospective observational study. ...
journal_title:Endocrine connections
pub_type: 杂志文章
doi:10.1530/EC-17-0200
更新日期:2017-11-01 00:00:00
abstract::Hypercalcemic crisis is a severe but rare complication of primary hyperparathyroidism (PHPT), and data on denosumab treatment of patients with this disease is still very limited. The aim of this paper is to investigate the hypocalcemic effect of denosumab in PHPT patients with severe hypercalcemia when surgery should ...
journal_title:Endocrine connections
pub_type: 杂志文章
doi:10.1530/EC-20-0380
更新日期:2020-10-01 00:00:00
abstract::Acromegaly is a rare and insidious disease characterized by the overproduction of growth hormone (GH) and insulin-like growth factor 1 (IGF1) and is most commonly due to a pituitary adenoma. Patients with acromegaly who experience prolonged exposure to elevated levels of GH and IGF1 have an increased mortality risk an...
journal_title:Endocrine connections
pub_type: 杂志文章,评审
doi:10.1530/EC-15-0064
更新日期:2015-12-01 00:00:00
abstract::The role of G protein-coupled estrogen receptor 1 (GPER) signaling, including promotion of Ezrin phosphorylation (which could be activated by estrogen), has not yet been clearly identified in triple-negative breast cancer (TNBC). This study aimed to evaluate the prognostic value of GPER and Ezrin in TNBC patients. Cli...
journal_title:Endocrine connections
pub_type: 杂志文章
doi:10.1530/EC-19-0164
更新日期:2019-06-01 00:00:00
abstract:Background:The effect of isolated maternal hypothyroxinaemia (IMH) on pregnancy complications and neonatal outcomes in human beings is still controversial. Methods:This was a retrospective cohort study based on the electronic medical register system. The records of women with a singleton pregnancy who sought antenatal...
journal_title:Endocrine connections
pub_type: 杂志文章
doi:10.1530/EC-19-0088
更新日期:2019-04-01 00:00:00
abstract::This study aimed to evaluate the evolving trends in clinicopathological features of pancreatic neuroendocrine tumors and to analyze the predictors of recurrence after curative resection. Data collected retrospectively from a single center between January 1990 and December 2017 were analyzed. Patients were categorized ...
journal_title:Endocrine connections
pub_type: 杂志文章
doi:10.1530/EC-19-0282
更新日期:2019-07-01 00:00:00
abstract::Background The combination of mitotane and platinum-etoposide chemotherapy is a front-line treatment in metastatic adrenocortical carcinoma (ACC), although this regimen shows limited efficacy. Pharmacokinetic drug-drug interaction between mitotane, a strong CYP3A4 inducer, and etoposide, which is a substrate of CYP3A4...
journal_title:Endocrine connections
pub_type: 杂志文章
doi:10.1530/EC-18-0428
更新日期:2018-12-01 00:00:00
abstract::Background and objectives Glucocorticoids are used to manage adrenal insufficiency (AI). We describe treatments used in the United Kingdom and real-world clinical outcomes for each treatment. Methods We used 2010-2016 primary care data from The Health Improvement Network (THIN). Descriptive analyses were conducted, an...
journal_title:Endocrine connections
pub_type: 杂志文章
doi:10.1530/EC-18-0418
更新日期:2019-01-01 00:00:00
abstract::According to its incidence patterns, colorectal cancer (CRC) tends to occur more frequently in males than in females, and the evidence shows that CRC is a hormone-related tumor. These findings indicate that androgen receptor (AR) gene methylation might be important for the regulation of the CRC risk in the different s...
journal_title:Endocrine connections
pub_type: 杂志文章
doi:10.1530/EC-19-0122
更新日期:2019-07-01 00:00:00
abstract::As many as 20-55% of patients with a history of traumatic brain injury (TBI) experience chronic endocrine dysfunction, leading to impaired quality of life, impaired rehabilitation efforts and lowered life expectancy. Endocrine dysfunction after TBI is thought to result from acceleration-deceleration forces to the brai...
journal_title:Endocrine connections
pub_type: 杂志文章
doi:10.1530/EC-16-0031
更新日期:2016-07-01 00:00:00
abstract:Background:A high level of free triiodothyronine (FT3) within the reference range may be a potential metabolic risk marker. However, the relationship between different fat depots and FT3 has remained unclear. Objective:We aimed to explore the relationships between segmental fat distribution and FT3 in euthyroid middle...
journal_title:Endocrine connections
pub_type: 杂志文章
doi:10.1530/EC-19-0394
更新日期:2019-10-01 00:00:00
abstract::N/A. ...
journal_title:Endocrine connections
pub_type: 杂志文章,评审
doi:10.1530/EC-21-0044
更新日期:2021-01-01 00:00:00
abstract::Few data are available on the association between serum lipids and insulin secretion (ISEC) in children. We evaluated the association of triglycerides (TG), HDL cholesterol (HDL-C) and LDL cholesterol (LDL-C) with ISEC in 1150 non-diabetic obese children and adolescents using multivariable robust median regression. Th...
journal_title:Endocrine connections
pub_type: 杂志文章
doi:10.1530/EC-19-0333
更新日期:2019-10-01 00:00:00
abstract::Tumor cells require large amounts of energy to sustain growth. Through the mediated transport of glucose transporters, the uptake and utilization of glucose by tumor cells are significantly enhanced in the hypoxic microenvironment. Pituitary adenomas are benign tumors with high-energy metabolisms. We aimed to investig...
journal_title:Endocrine connections
pub_type: 杂志文章
doi:10.1530/EC-18-0444
更新日期:2018-12-01 00:00:00
abstract:Purpose:Gallbladder neuroendocrine neoplasm (GB-NEN) is a relatively rare neoplasm, accounting for 0.5% of all neuroendocrine neoplasm cases and 2.1% of gallbladder cancers. Because of the limited understanding of GB-NEN, the aim of this study was to explore the clinicopathology and survival of GB-NEN patients selected...
journal_title:Endocrine connections
pub_type: 杂志文章
doi:10.1530/EC-19-0124
更新日期:2019-09-01 00:00:00
abstract:INTRODUCTION:Patients with acromegaly can be treated with surgery, medical therapy and/or radiation therapy. For the patients not being cured with surgery, treatment with somatostatin analogues (SSAs) is the primary therapy. SSA can be taken by self- or partner-administered injections in addition to being given by a nu...
journal_title:Endocrine connections
pub_type: 杂志文章
doi:10.1530/EC-16-0038
更新日期:2016-07-01 00:00:00
abstract::The goal of this study was to explore the relationship of the BRAFV600E mutation with clinicopathologic factors and evaluate the effect of radioactive iodine (RAI) therapy in a large group of intermediate- and high-risk papillary thyroid cancer (PTC) patients with the BRAFV600E mutation and without distant metastases....
journal_title:Endocrine connections
pub_type: 杂志文章
doi:10.1530/EC-19-0045
更新日期:2019-06-01 00:00:00