Mutational analysis of the autoimmune regulator (AIRE) gene in sporadic autoimmune Addison's disease can reveal patients with unidentified autoimmune polyendocrine syndrome type I.

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 Endocrinol

authors

Bøe AS,Knappskog PM,Myhre AG,Sørheim JI,Husebye ES

doi

10.1530/eje.0.1460519

subject

Has Abstract

pub_date

2002-04-01 00:00:00

pages

519-22

issue

4

eissn

0804-4643

issn

1479-683X

pii

146519

journal_volume

146

pub_type

杂志文章
  • Hormone therapy protects from diabetes: the Kuopio osteoporosis risk factor and prevention study.

    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

    authors: Pentti K,Tuppurainen MT,Honkanen R,Sandini L,Kröger H,Alhava E,Saarikoski S

    更新日期:2009-06-01 00:00:00

  • Dexamethasone impairs insulin signalling and glucose transport by depletion of insulin receptor substrate-1, phosphatidylinositol 3-kinase and protein kinase B in primary cultured rat adipocytes.

    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

    authors: Burén J,Liu HX,Jensen J,Eriksson JW

    更新日期:2002-03-01 00:00:00

  • Therapy of endocrine disease: Perspectives on the management of adrenal insufficiency: clinical insights from across Europe.

    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

    authors: Grossman A,Johannsson G,Quinkler M,Zelissen P

    更新日期:2013-10-21 00:00:00

  • Pheochromocytoma and pregnancy: a deceptive connection.

    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

    authors: Lenders JW

    更新日期:2012-02-01 00:00:00

  • Retinoic acid receptors alpha, beta and gamma, and cellular retinol binding protein-I expression in breast fibrocystic disease and cancer.

    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

    authors: Pasquali D,Bellastella A,Valente A,Botti G,Capasso I,del Vecchio S,Salvatore M,Colantuoni V,Sinisi AA

    更新日期:1997-10-01 00:00:00

  • Dose-dependent effects of recombinant human growth hormone on biochemical markers of bone and collagen metabolism in adult growth hormone deficiency.

    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

    authors: Bollerslev J,Møller J,Thomas S,Djøseland O,Christiansen JS

    更新日期:1996-12-01 00:00:00

  • Effect of exogenous growth hormone administration on endogenous growth hormone secretion induced by a met-enkephalin analog.

    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

    authors: Fanciulli G,Oliva O,Tomasi PA,Pala A,Bertoncelli A,Dettori A,Delitala G

    更新日期:1996-01-01 00:00:00

  • Reduced disorderliness of growth hormone release in biochemically inactive acromegaly after pituitary surgery.

    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

    authors: van den Berg G,Pincus SM,Frölich M,Veldhuis JD,Roelfsema F

    更新日期:1998-02-01 00:00:00

  • Association between an IGF-I gene polymorphism and body fatness: differences between generations.

    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

    authors: Voorhoeve PG,van Rossum EF,Te Velde SJ,Koper JW,Kemper HC,Lamberts SW,de Waal HA

    更新日期:2006-03-01 00:00:00

  • Coexistence of normotensive primary aldosteronism in two patients with Gitelman's syndrome and novel thiazide-sensitive Na-Cl cotransporter mutations.

    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

    authors: Miao Z,Gao Y,Bindels RJ,Yu W,Lang Y,Chen N,Ren H,Sun F,Li Y,Wang X,Shao L

    更新日期:2009-08-01 00:00:00

  • Use of radiotherapy after pituitary surgery for non-functioning pituitary adenomas.

    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

    authors: Chanson P,Dormoy A,Dekkers OM

    更新日期:2019-07-01 00:00:00

  • Extremely low values of serum leptin in children with congenital generalized lipoatrophy.

    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

    authors: Jaquet D,Khallouf E,Lévy-Marchal C,Czernichow P

    更新日期:1999-01-01 00:00:00

  • Effects of sex steroids on bone in women with subclinical or overt endogenous hypercortisolism.

    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

    authors: Tauchmanovà L,Pivonello R,De Martino MC,Rusciano A,De Leo M,Ruosi C,Mainolfi C,Lombardi G,Salvatore M,Colao A

    更新日期:2007-09-01 00:00:00

  • Pregnancy and pituitary disorders.

    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

    authors: Karaca Z,Tanriverdi F,Unluhizarci K,Kelestimur F

    更新日期:2010-03-01 00:00:00

  • The genetics of phaeochromocytoma: using clinical features to guide genetic testing.

    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

    authors: Jafri M,Maher ER

    更新日期:2012-02-01 00:00:00

  • Serum reg protein level is not related to the beta cell destruction/regeneration process during early phases of diabetogenesis in type I diabetes.

    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

    authors: Christofilis MA,Carrere J,Atlan-Gepner C,Zevaco-Mattei C,Thivolet C,Baeza N,Figarella C,Vialettes B

    更新日期:1999-10-01 00:00:00

  • Protective effect of dehydroepiandrosterone against lipid peroxidation in a human liver cell line.

    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

    authors: Gallo M,Aragno M,Gatto V,Tamagno E,Brignardello E,Manti R,Danni O,Boccuzzi G

    更新日期:1999-07-01 00:00:00

  • Macroprolactinaemia: a biological diagnostic strategy from the study of 222 patients.

    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

    authors: Parlant-Pinet L,Harthé C,Roucher F,Morel Y,Borson-Chazot F,Raverot G,Raverot V

    更新日期:2015-06-01 00:00:00

  • Effect of cosyntropin during adrenal venous sampling on subtype of primary aldosteronism: analysis of surgical outcome.

    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

    authors: Kobayashi H,Nakamura Y,Abe M,Kurihara I,Itoh H,Ichijo T,Takeda Y,Yoneda T,Katabami T,Tsuiki M,Wada N,Ogawa Y,Sakamoto R,Kawashima J,Sone M,Inagaki N,Yoshimoto T,Yamada T,Okamoto R,Matsuda Y,Fujita M,Watanabe M,

    更新日期:2020-03-01 00:00:00

  • Single nucleotide polymorphisms in the intergenic region between metformin transporter OCT2 and OCT3 coding genes are associated with short-term response to metformin monotherapy in type 2 diabetes mellitus patients.

    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

    authors: Zaharenko L,Kalnina I,Geldnere K,Konrade I,Grinberga S,Židzik J,Javorský M,Lejnieks A,Nikitina-Zake L,Fridmanis D,Peculis R,Radovica-Spalvina I,Hartmane D,Pugovics O,Tkáč I,Klimčáková L,Pīrāgs V,Klovins J

    更新日期:2016-12-01 00:00:00

  • Validity and clinical applicability of the acromegaly quality of life questionnaire, AcroQoL: a 6-month prospective study.

    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

    authors: Webb SM,Badia X,Surinach NL,Spanish AcroQol Study Group.

    更新日期:2006-08-01 00:00:00

  • Effect of supplemental vitamin D and calcium on serum sclerostin levels.

    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

    authors: Dawson-Hughes B,Harris SS,Ceglia L,Palermo NJ

    更新日期:2014-03-13 00:00:00

  • MECHANISMS IN ENDOCRINOLOGY: An update in the genetic aetiologies of combined pituitary hormone deficiency.

    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

    authors: Castinetti F,Reynaud R,Saveanu A,Jullien N,Quentien MH,Rochette C,Barlier A,Enjalbert A,Brue T

    更新日期:2016-06-01 00:00:00

  • Clinical characteristics of pain in patients with pituitary adenomas.

    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

    authors: Dimopoulou C,Athanasoulia AP,Hanisch E,Held S,Sprenger T,Toelle TR,Roemmler-Zehrer J,Schopohl J,Stalla GK,Sievers C

    更新日期:2014-11-01 00:00:00

  • Does dipeptidyl peptidase-4 inhibition prevent the diabetogenic effects of glucocorticoids in men with the metabolic syndrome? A randomized controlled trial.

    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

    authors: van Genugten RE,van Raalte DH,Muskiet MH,Heymans MW,Pouwels PJ,Ouwens DM,Mari A,Diamant M

    更新日期:2014-02-04 00:00:00

  • Primary aldosteronism as a cause of secondary osteoporosis.

    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

    authors: Salcuni AS,Carnevale V,Battista C,Palmieri S,Eller-Vainicher C,Guarnieri V,Pugliese F,Guglielmi G,Desina G,Minisola S,Chiodini I,Scillitani A

    更新日期:2017-11-01 00:00:00

  • Hyperprolactinaemia is associated with a higher prevalence of pituitary-adrenal dysfunction in non-functioning pituitary macroadenoma.

    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

    authors: Tjeerdsma G,Sluiter WJ,Hew JM,Molenaar WM,de Lange WE,Dullaart RP

    更新日期:1996-09-01 00:00:00

  • Variation in the gene encoding Krüppel-like factor 7 influences body fat: studies of 14 818 Danes.

    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

    authors: Zobel DP,Andreasen CH,Burgdorf KS,Andersson EA,Sandbaek A,Lauritzen T,Borch-Johnsen K,Jørgensen T,Maeda S,Nakamura Y,Eiberg H,Pedersen O,Hansen T

    更新日期:2009-04-01 00:00:00

  • Factors controlling testis descent.

    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

    authors: Hughes IA,Acerini CL

    更新日期:2008-12-01 00:00:00

  • Impact of metformin and rosiglitazone treatment on glucose transporter 4 mRNA expression in women with polycystic ovary syndrome.

    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

    authors: Jensterle M,Janez A,Mlinar B,Marc J,Prezelj J,Pfeifer M

    更新日期:2008-06-01 00:00:00