Abstract:
OBJECTIVE:To investigate whether patients with Addison's disease and polyendocrine syndromes have undiagnosed autoimmune polyendocrine syndrome type I (APS I). MATERIALS AND METHODS:Forty patients with clinical manifestations resembling APS I and with autoantibodies typical of this condition were screened for Norwegian autoimmune regulator (AIRE) gene mutations. RESULTS:A 30-year old man who had developed Addison' s disease at the age of 12, but had no other components of APS I, was homozygous for the 1094-1106 deletion mutation in exon 8 of the AIRE gene, the most common mutation found in Norway. CONCLUSIONS:APS I patients with milder and atypical phenotypes are difficult to diagnose on clinical grounds. Autoantibody analysis and mutational analysis of AIRE may therefore be helpful modalities for identifying these individuals.
journal_name
Eur J Endocrinoljournal_title
European journal of endocrinologyauthors
Bøe AS,Knappskog PM,Myhre AG,Sørheim JI,Husebye ESdoi
10.1530/eje.0.1460519subject
Has Abstractpub_date
2002-04-01 00:00:00pages
519-22issue
4eissn
0804-4643issn
1479-683Xpii
146519journal_volume
146pub_type
杂志文章abstract:OBJECTIVES:The purpose of this population-based prospective cohort study was to examine the effect of hormone therapy (HT) on incidence of diabetes mellitus (DM). DESIGN AND METHODS:Eight thousand four hundred and eighty-three DM-free post-menopausal women aged 52-62 from the population-based Kuopio osteoporosis risk ...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/EJE-09-0151
更新日期:2009-06-01 00:00:00
abstract:OBJECTIVE:Glucocorticoid excess leads to insulin resistance. This study explores the effects of glucocorticoids on the glucose transport system and insulin signalling in rat adipocytes. The interaction between glucocorticoids and high levels of insulin and glucose is also addressed. DESIGN AND METHODS:Isolated rat adi...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.0.1460419
更新日期:2002-03-01 00:00:00
abstract:BACKGROUND:Conventional glucocorticoid (GC) replacement for patients with adrenal insufficiency (AI) is inadequate. Patients with AI continue to have increased mortality and morbidity and compromised quality of life despite treatment and monitoring. OBJECTIVES:i) To review current management of AI and the unmet medica...
journal_title:European journal of endocrinology
pub_type: 杂志文章,评审
doi:10.1530/EJE-13-0450
更新日期:2013-10-21 00:00:00
abstract::A pheochromocytoma in a pregnant patient is one of the most threatening medical conditions for mother, fetus, and physician. Although extraordinarily rare with a frequency of 0.002% of all pregnancies, this tumor is notorious for its devastating consequences. As in non-pregnant patients, the signs and symptoms are qui...
journal_title:European journal of endocrinology
pub_type: 杂志文章,评审
doi:10.1530/EJE-11-0528
更新日期:2012-02-01 00:00:00
abstract::Retinoids seem to act as agents of chemoprevention and differentiation in breast diseases. Their action is mediated by nuclear receptors, retinoic acid receptors (RAR alpha, RAR beta, RAR gamma) and retinoid X receptors (RXR alpha, RXR beta, RXR gamma) and modulated by cellular retinol binding proteins (CRBP). There a...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.0.1370410
更新日期:1997-10-01 00:00:00
abstract::Administration of growth hormone (GH) to patients with growth hormone deficiency (GHD) has beneficial effects, but so far has been employed only empirically. We have, therefore, investigated the dose-dependent effect of GH on target tissue by studying biochemical markers of bone and collagen turnover in GHD. Then pati...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.0.1350666
更新日期:1996-12-01 00:00:00
abstract::Exogenous growth hormone (hGH) administration in humans attenuates the endogenous growth hormone (GH) response to some pharmacological stimuli; in particular, pretreatment with hGH completely blocks the serum GH response to growth hormone-releasing hormone. In order to evaluate the mechanism(s) whereby opiods induce G...
journal_title:European journal of endocrinology
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1530/eje.0.1340073
更新日期:1996-01-01 00:00:00
abstract::The episodicity of 24 h GH release was studied in 18 patients with active acromegaly, 12 patients 7-10 days after pituitary surgery, 14 patients long after operation (3-17 years), and 21 healthy gender- and age-matched control subjects, using a recently introduced scale- and model-independent regularity statistic, app...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.0.1380164
更新日期:1998-02-01 00:00:00
abstract:OBJECTIVE:A polymorphism near the promoter region of the IGF-I gene has been associated with serum IGF-I levels, body height and birth weight. In this study, we investigated whether this polymorphism is associated with body composition in young healthy subjects in two cohorts of different generations. DESIGN:Observati...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.1.02101
更新日期:2006-03-01 00:00:00
abstract:BACKGROUND:Primary aldosteronism (PA) is the most common form of secondary hypertension, while Gitelman's syndrome (GS) is the most common inherited renal tubular disease. However, coexistence of these two diseases has never been previously reported. AIM AND SUBJECTS: The aim of our study was to describe the associatio...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/EJE-09-0271
更新日期:2009-08-01 00:00:00
abstract::Surgery is the treatment of choice for non-functioning pituitary macroadenomas (NFPAs). In cases of postoperative remnant growth or tumor recurrence, radiotherapy (RT) can be considered. The role of RT in the postoperative management of NFPAs is still debated. The main arguments against routine use of RT are the lack ...
journal_title:European journal of endocrinology
pub_type: 杂志文章,评审
doi:10.1530/EJE-19-0058
更新日期:2019-07-01 00:00:00
abstract::Congenital generalized lipoatrophy (CGL) is a syndrome with multiple clinical manifestations and complete atrophy of adipose tissue. The exact mechanism of this disease remains unknown. One hypothesis presupposes an abnormal development of adipocytes. Leptin, the adipocyte-specific product of the ob gene, acts as a re...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.0.1400107
更新日期:1999-01-01 00:00:00
abstract:OBJECTIVE:Glucocorticoid-induced osteoporosis is the most frequent cause of secondary osteoporosis. Nevertheless, limited data are available on bone status in patients with endogenous cortisol excess. This study is aimed at investigating the role of sex steroids and severity of hypercortisolism on bone mineral density ...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/EJE-07-0137
更新日期:2007-09-01 00:00:00
abstract::Major hormonal changes emerge during pregnancy. The pituitary gland is one of the most affected organs with altered anatomy and physiology. The pituitary gland is enlarged as a result of lactotroph hyperplasia. Due to physiological changes in the pituitary and target hormone levels, binding globulins, and placental ho...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/EJE-09-0923
更新日期:2010-03-01 00:00:00
abstract::Phaeochromocytoma is a rare, usually benign, tumour predominantly managed by endocrinologists. Over the last decade, major advances have been made in understanding the molecular genetic basis of adrenal and extra-adrenal phaeochromocytoma (also referred to as adrenal phaeochromocytoma (aPCA) and extra-adrenal function...
journal_title:European journal of endocrinology
pub_type: 杂志文章,评审
doi:10.1530/EJE-11-0497
更新日期:2012-02-01 00:00:00
abstract:OBJECTIVE:In type I diabetes mellitus, early markers of beta cell damage are needed in order to detect the infraclinical development of the disease. The reg protein may be a good candidate, as the reg gene has been proposed to play a role in the pancreatic beta cell destruction/regeneration process during diabetogenesi...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.0.1410368
更新日期:1999-10-01 00:00:00
abstract:OBJECTIVE:Dehydroepiandrosterone (DHEA) is a widely studied steroid hormone with multi-functional properties. Reports suggest that some of the many activities of DHEA are due to its protective effect against lipid peroxidation. Nevertheless, the antioxidant properties of DHEA are still the subject of debate. The aim wa...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.0.1410035
更新日期:1999-07-01 00:00:00
abstract:OBJECTIVES:Gel filtration chromatography (GFC), the gold standard for macroprolactinaemia (MPRL) diagnosis, is a slow, costly and labour-intensive method. To limit the number of GFC required, we evaluated two screening tests for MPRL: prolactin (PRL) recovery after polyethylene glycol (PEG) precipitation and PRL concen...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/EJE-14-1073
更新日期:2015-06-01 00:00:00
abstract:Objectives:We investigated the clinical significance of ACTH stimulation during adrenal venous sampling (AVS) by surgical outcome of primary aldosteronism (PA). Design:Multicenter retrospective study by Japan PA study. Method:We allocated 314 patients with both basal and ACTH-stimulated AVS data who underwent adrenal...
journal_title:European journal of endocrinology
pub_type: 杂志文章,多中心研究
doi:10.1530/EJE-19-0860
更新日期:2020-03-01 00:00:00
abstract:OBJECTIVES:High variability in clinical response to metformin is often observed in type 2 diabetes (T2D) patients, and it highlights the need for identification of genetic components affecting the efficiency of metformin therapy. Aim of this observational study is to evaluate the role of tagSNPs (tagging single nucleot...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/EJE-16-0347
更新日期:2016-12-01 00:00:00
abstract:OBJECTIVE:Validate the acromegaly quality of life (AcroQoL) questionnaire as a disease-generated questionnaire, which analyses physical and psychological domains, the latter subdivided into appearance and personal relationship sub-scales, to evaluate health-related quality of life (HRQoL) in acromegaly. DESIGN:Prospec...
journal_title:European journal of endocrinology
pub_type: 杂志文章,多中心研究
doi:10.1530/eje.1.02214
更新日期:2006-08-01 00:00:00
abstract:OBJECTIVE:Serum sclerostin levels have been reported to be inversely associated with serum 25OHD levels, but the effect of vitamin D and calcium supplementation on serum sclerostin levels is unknown. This study was carried out to determine whether vitamin D and calcium supplementation altered serum sclerostin levels in...
journal_title:European journal of endocrinology
pub_type: 杂志文章,随机对照试验
doi:10.1530/EJE-13-0862
更新日期:2014-03-13 00:00:00
abstract::Over the last 5 years, new actors involved in the pathogenesis of combined pituitary hormone deficiency in humans have been reported: they included a member of the immunoglobulin superfamily glycoprotein and ciliary G protein-coupled receptors, as well as new transcription factors and signalling molecules. New modes o...
journal_title:European journal of endocrinology
pub_type: 杂志文章,评审
doi:10.1530/EJE-15-1095
更新日期:2016-06-01 00:00:00
abstract:OBJECTIVE:Clinical presentation of pituitary adenomas frequently involves pain, particularly headache, due to structural and functional properties of the tumour. Our aim was to investigate the clinical characteristics of pain in a large cohort of patients with pituitary disease. DESIGN:In a cross-sectional study, we a...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/EJE-14-0375
更新日期:2014-11-01 00:00:00
abstract:OBJECTIVE:Anti-inflammatory glucocorticoid (GC) therapy often induces hyperglycemia due to insulin resistance and islet-cell dysfunction. Incretin-based therapies may preserve glucose tolerance and pancreatic islet-cell function. In this study, we hypothesized that concomitant administration of the dipeptidyl peptidase...
journal_title:European journal of endocrinology
pub_type: 杂志文章,随机对照试验
doi:10.1530/EJE-13-0610
更新日期:2014-02-04 00:00:00
abstract:OBJECTIVE:Patients with primary aldosteronism (PA) have a high prevalence of osteoporosis (OP) and fractures (Fx). We evaluated the presence of PA in patients admitted to our metabolic bone disease outpatient clinic. DESIGN:Study conducted on an in- and outpatient basis in a referral Italian endocrinology unit. METHO...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/EJE-17-0417
更新日期:2017-11-01 00:00:00
abstract::In non-functioning pituitary macroadenoma (NFMA), hyperprolactinaemia (hyperPRL) is considered to be a sign of hypothalamic-pituitary dysregulation, but it is unknown whether hyperPRL is associated with an increased frequency of pituitary hormone deficiencies. Forty consecutive patients with histology-proven NFMA were...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.0.1350299
更新日期:1996-09-01 00:00:00
abstract:OBJECTIVE:KLF7 encodes Krüppel-like factor (KLF) 7, a member of the KLF family of transcription factors, initially shown to play important roles in cellular development and differentiation, and reported to be specifically involved in adipogenesis. Several single nucleotide polymorphisms (SNPs) have been identified in K...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/EJE-08-0688
更新日期:2009-04-01 00:00:00
abstract::Descent of the testis from an intra-abdominal site in foetal life to an extracorporeal location after birth is a mandatory developmental process to ensure that the mature testis promotes normal spermatogenesis. The two phases of transabdominal and inguinoscrotal descent occur approximately during the first and last th...
journal_title:European journal of endocrinology
pub_type: 杂志文章,评审
doi:10.1530/EJE-08-0458
更新日期:2008-12-01 00:00:00
abstract:OBJECTIVE:The insulin-resistant state of the polycystic ovary syndrome (PCOS) was found to be associated with a decreased glucose transporter GLUT4 expression in the insulin target tissues. This study was performed to explore whether the well-known clinical, hormonal and metabolic efficacy of metformin or rosiglitazone...
journal_title:European journal of endocrinology
pub_type: 杂志文章,随机对照试验
doi:10.1530/EJE-07-0857
更新日期:2008-06-01 00:00:00