Abstract:
OBJECTIVE:The existence of genotype-phenotype correlation in multiple endocrine neoplasia type 1 (MEN1) is controversial. Two founder mutations of the MEN1 gene in Northern Finland gave us an opportunity to compare clinical features among heterozygotes of different mutations. DESIGN AND METHODS:Study cohort included 82 MEN1 heterozygotes who were tested for MEN1 during the years 1982-2001. Medical records were reviewed for manifestations of MEN1, other tumours and cause of death by the end of August 2003. Logistic regression analysis was used in evaluating the impact of age, gender and mutational status of affected heterozygotes on the likelihood of developing manifestations of MEN1. RESULTS:Founder mutations 1466del12 and 1657insC were found in 39 and 29 individuals, and D418N, G156R and R527X mutations in 9, 3 and 2 individuals respectively. Except for pituitary adenoma and nonfunctional pancreatic tumour (NFPT), age was a risk factor for all the disease manifestations. For NFPT, frameshift/nonsense mutations (1657insC, R527X) gave an odds ratio (OR) of 3.26 (95% confidence intervals (CI), 1.27-8.33; P = 0.014) compared with in-frame/missense mutations (1466del12, D418N, G156R); including the founder mutation carriers (n = 68) only, the 1657insC mutation gave an OR of 3.56 (CI, 1.29-9.83; P = 0.015). For gastrinoma, in-frame/missense mutations predicted the risk with an OR of 6.77 (CI, 1.31-35.0; P = 0.022), and in the founder mutations group the 1466del12 mutation gave an OR of 15.09 (CI, 1.73-131.9, P = 0.014). CONCLUSIONS:In this study population, NFPT was more common in the frameshift/nonsense or 1657insC mutation carriers, whereas gastrinoma was more common in the in-frame/missense or 1466del12 mutation carriers.
journal_name
Eur J Endocrinoljournal_title
European journal of endocrinologyauthors
Vierimaa O,Ebeling TM,Kytölä S,Bloigu R,Eloranta E,Salmi J,Korpi-Hyövälti E,Niskanen L,Orvola A,Elovaara E,Gynther A,Sane T,Välimäki M,Ignatius J,Leisti J,Salmela PIdoi
10.1530/EJE-07-0195subject
Has Abstractpub_date
2007-09-01 00:00:00pages
285-94issue
3eissn
0804-4643issn
1479-683Xpii
157/3/285journal_volume
157pub_type
杂志文章abstract:OBJECTIVE:A sex difference in fetal and neonatal pituitary-gonadal function has been well documented. The aim of the following study was to determine sex differences and patterns of basal LH/FSH in the neonatal period. DESIGN:Peripheral venous blood was obtained from 164 healthy full term newborns (91 males, 73 female...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.0.1430213
更新日期:2000-08-01 00:00:00
abstract::123I-metaiodobenzylguanidine (123I-MIBG) scintigraphy scanning is commonly used in the imaging of phaeochromocytoma (and paraganglioma) to confirm the site of disease and whether any spread has occurred. However, 123I-MIBG imaging is negative in 15% of cases of benign phaeochromocytoma and around 50% of cases of malig...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/EJE-07-0369
更新日期:2007-10-01 00:00:00
abstract::Several converging lines of evidence obtained over the last years in a wide variety of experimental model organisms suggest that the ageing process is regulated by genes that encode proteins from the somatotroph axis: longevity genes like daf-2, which were identified using mutant Caenorhabditis elegans strains, turned...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.0.151s023
更新日期:2004-08-01 00:00:00
abstract::To investigate a possible association between vitamin D receptor genotype and development of postmenopausal osteoporosis, a longitudinal study from 1977 to 1995 was carried out on women living in Oslo, Norway. One hundred and eighteen premenopausal women born in 1930 were included in a study of pre- and postmenopausal...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.0.1350096
更新日期:1996-07-01 00:00:00
abstract:INTRODUCTION:Activating mutations of the BRAF oncogene are frequently detected in papillary thyroid carcinoma (PTC) and have been associated with a worse prognosis. The amino acid substitution V600E accounts for 90% of all oncogenic BRAF mutations and is typically detected in classic PTCs, whereas other less frequent B...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/EJE-08-0239
更新日期:2008-07-01 00:00:00
abstract::X-linked adrenoleucodystrophy (ALD) has been shown to be one of the most frequent causes of Addison's disease in men. It is characterized by an impaired peroxisomal beta-oxidation of very long chain fatty acids and is associated with mutations of the ALD gene resulting in a defective peroxisomal membrane transport pro...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.0.1370040
更新日期:1997-07-01 00:00:00
abstract:BACKGROUND:Lithium, clinically used in the treatment of bipolar disorders, is well known to induce thyroid growth. However, the mechanism involved is only incompletely characterized. Although it is conventionally believed that thyroid proliferation depends on the thyroid-stimulating hormone (TSH)/cAMP/cAMP response ele...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.1.02038
更新日期:2005-12-01 00:00:00
abstract:OBJECTIVE:Inactivating mutations of the GH-releasing hormone receptor (GHRHR) gene (GHRHR) cause familial isolated GH deficiency (IGHD) type IB. The GH response to physical exercise (PE) in patients lacking GHRHR has never been studied. We hypothesized that subjects lacking functional GHRHR may be a model to study GH r...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.0.1470591
更新日期:2002-11-01 00:00:00
abstract:OBJECTIVE:An inherited profile of genes related to the response to aggressive environmental factors such as viruses and chemicals may be related to an increased susceptibility to Graves' disease (GD). DESIGN AND METHODS:This prospective case-control study was designed to examine the relationship between human herpesvi...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/EJE-09-0719
更新日期:2010-02-01 00:00:00
abstract:BACKGROUND:A substantial proportion of all pheochromocytomas is currently detected during the evaluation of an adrenal incidentaloma. Recently, it has been suggested that biochemical testing to rule out pheochromocytoma is unnecessary in case of an adrenal incidentaloma with an unenhanced attenuation value ≤10 Hounsfie...
journal_title:European journal of endocrinology
pub_type: 杂志文章,多中心研究
doi:10.1530/EJE-18-0006
更新日期:2018-05-01 00:00:00
abstract::Genetic predictors of outcome are reviewed in the context of a disease--cancer--that can be (too) simplistically described as a 'successful, invasive clone of our own tissues'. Context has many faces that determine a thyroid cancer patient's outcome beyond the influence of genetic markers. There is also plenty of evid...
journal_title:European journal of endocrinology
pub_type: 杂志文章,评审
doi:10.1530/EJE-15-0605
更新日期:2016-04-01 00:00:00
abstract::The ob protein, termed leptin, is produced by adipocytes and is thought to act as an afferent satiety signal regulating weight through suppressing appetite and stimulating energy expenditure in humans and/or rodents. Insulin has been found to be a potent stimulator of leptin expression in rodents. It is unclear at pre...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.0.1380501
更新日期:1998-05-01 00:00:00
abstract:BACKGROUND:The purpose of this study was to assess changes in the cross-sectional area (CSA) of nervus medianus by ultrasound in newly diagnosed primary hypothyroid patients after thyroxine replacement treatment. PATIENTS AND METHODS:The cohort comprised 30 patients with newly diagnosed primary autoimmune hypothyroidi...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/EJE-16-0397
更新日期:2016-10-01 00:00:00
abstract::Biosynthesis of iodothyronines in thyroglobulin occurs by oxidative coupling of two iodotyrosine residues catalyzed by thyroperoxidase. To study the mechanism of iodothyronine formation, iodine-free thyroglobulin was non-enzymatically iodinated and after removal of non-incorporated iodide, incubated with lactoperoxida...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.0.1380227
更新日期:1998-02-01 00:00:00
abstract:OBJECTIVE:To assess the individuals' thyroid volume changes after the mandatory nationwide iodine fortification (IF) program in two Danish areas with different iodine intake at baseline (Copenhagen, mild iodine deficiency (ID) and Aalborg, moderate ID). DESIGN:A longitudinal population-based study (DanThyr). METHODS:...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/EJE-13-0918
更新日期:2014-03-08 00:00:00
abstract:BACKGROUND:Hyperthyroidism is a risk factor for reduced bone mineral density (BMD) and osteoporotic fractures. Vertebral fracture assessment (VFA) by dual-energy X-ray absorptiometry (DXA) is a radiological method of visualization of the spine, which enables patient comfort and reduced radiation exposure. OBJECTIVES:T...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/EJE-14-0602
更新日期:2015-02-01 00:00:00
abstract:INTRODUCTION:In genetically predisposed individuals, exogenous factors (including pollution) influence the development of Hashimoto's thyroiditis/chronic lymphocytic thyroiditis (CLT). CLT may also be a risk factor for associated thyroid cancer. Few data are available on the role of pollution from petrochemical complex...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/EJE-14-0864
更新日期:2015-04-01 00:00:00
abstract:OBJECTIVE:Excess glucocorticoids are known to cause hypertension and cardiovascular disease (CVD). The BclI glucocorticoid receptor (GR) polymorphism increases glucocorticoid sensitivity and is associated with adverse metabolic effects. Previous studies investigating cardiovascular implications have shown inconsistent ...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/EJE-15-0381
更新日期:2015-10-01 00:00:00
abstract:Objective:Fetal exposure to gestational diabetes mellitus (GDM) increases the risk of metabolic diseases in the offspring. Leptin, adiponectin, and fibroblast growth factor 21 (FGF21) may play potential roles in the underlying disease mechanisms. We investigated the impact of fetal exposure to GDM on leptin, adiponecti...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/EJE-19-0658
更新日期:2019-12-01 00:00:00
abstract:OBJECTIVE:Very few previous studies have compared the degree of health-related quality of life (HRQL), depression and anxiety of differentiated thyroid cancer patients (DTC) under short-term hypothyroid-ism and levothyroxine treatment. METHODS:Using patient-completed instruments, we examined the frequency of physical ...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.1.02047
更新日期:2005-12-01 00:00:00
abstract:BACKGROUND:Previous studies have suggested that infections are an important cause of death in patients with Addison's disease, but epidemiological studies on the frequency of infections in this population are lacking. OBJECTIVE:To assess and compare the incidence risk of infections in patients with primary adrenal ins...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/EJE-12-0879
更新日期:2013-03-15 00:00:00
abstract::The control of prolactin (PRL) secretion by N-methyl-D-aspartate (NMDA) and kainic acid (KA), agonists of NMDA and kainate receptors, and the interactions between NMDA and KA with nitric oxide (NO) were analysed in prepubertal female rats. For this purpose, serum PRL concentrations and hypothalamic and pituitary dopam...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.0.1350464
更新日期:1996-10-01 00:00:00
abstract:OBJECTIVE:We measured the total and nonphosphorylated insulin-like growth factor-binding protein (IGFBP)-1 concentrations in obese children to determine the effect of obesity on the status of IGFBP-1 phosphorylation. We also measured the serum levels of insulin, total and free IGF-I, and IGFBP-3 to investigate their re...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.0.1410585
更新日期:1999-12-01 00:00:00
abstract:OBJECTIVE:The uncoupling protein 2 (UCP2) uncouples respiration from the oxidative phosphorylation in most cell types, predominantly in white fat and skeletal muscle. Since a decreased basal metabolic rate (BMR) would increase the susceptibility to weight gain, genetic alterations in the UCP2 gene could contribute to t...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.0.1390217
更新日期:1998-08-01 00:00:00
abstract::Sex steroids are important for the growth and maintenance of both the female and the male skeleton. However, the relative contribution of androgens versus estrogens in the regulation of the male skeleton is unclear. Experiments using mice with inactivated sex steroid receptors demonstrated that both activation of the ...
journal_title:European journal of endocrinology
pub_type: 杂志文章,评审
doi:10.1530/EJE-09-0118
更新日期:2009-06-01 00:00:00
abstract:AIM:It is widely known that inflammation is related to type 2 diabetes (T2D), but few studies have shown a direct relationship between the immune system and T2D using a reliable biomarker. Neutrophil:lymphocyte ratio (NLR) is an easy-to-analyze inflammation biomarker, but few studies have assessed the relationship betw...
journal_title:European journal of endocrinology
pub_type: 杂志文章,随机对照试验
doi:10.1530/EJE-15-0176
更新日期:2015-08-01 00:00:00
abstract:BACKGROUND:Differences in circulating steroid hormone levels have been hypothesized to explain ethnic differences in steroid-related diseases. The aim of this study was to determine the serum levels of a wide panel of steroid hormones, both androgens and estrogens, in healthy middle-aged African-Caribbean and European ...
journal_title:European journal of endocrinology
pub_type: 杂志文章,随机对照试验
doi:10.1530/EJE-11-0551
更新日期:2011-12-01 00:00:00
abstract::The monoclonal origin of gonadotropin-secreting pituitary adenomas has been well demonstrated but only few molecular abnormalities have so far been recognized in these tumors. For many years, several authors have suggested a role for GnRH and/or GnRH receptors (GnRH-R) in the development of these pituitary adenomas. T...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.0.1390157
更新日期:1998-08-01 00:00:00
abstract:OBJECTIVE:Vitamin D insufficiency is common in primary hyperparathyroidism (pHPT). Patients with pHPT frequently have a reduced health-related quality of life (HRQoL). Our objectives were to evaluate whether HRQoL in pHPT is associated with vitamin D insufficiency and whether vitamin D supplementation after parathyroid...
journal_title:European journal of endocrinology
pub_type: 杂志文章,随机对照试验
doi:10.1530/EJE-14-0757
更新日期:2015-02-01 00:00:00
abstract:Background:The treatment of acromegaly resistant to first-generation somatostatin receptor ligands (SRLs) is often difficult. Pegvisomant and Pasireotide LAR are mostly used in these subset of patients, as second line therapies. Choice of the type of second line therapies is difficult, since predictors of response are ...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/EJE-20-0767
更新日期:2021-02-01 00:00:00