Abstract：
OBJECTIVE:IGF1 is essential for human growth and mediates its effects through the type 1 IGF receptor (IGF1R). Our objective was to determine the frequency of certain previously reported IGF1R gene variants in the normal population and their effect on stature. DESIGN:A cross-sectional study was conducted in a population of 2500 children enrolled in public school grades 5 through 12 for whom DNA and anthropometric data were available. Subjects were genotyped at five previously reported loci that affect receptor abundance or function. METHODS:The frequency of the following IGF1R variants Arg108Gln, Lys115Asn, Arg59stop, Arg481Gln, and Arg605His was measured by a PCR-based assay. Circulating concentrations of IGF1 or IGF binding protein-3 (IGFBP3) were measured by ELISA in those affected and matched controls. RESULTS:A scan of 1300 subjects detected none with Arg108Gln, Lys115Asn, or Arg59stop mutations. In contrast, nucleotide changes leading to heterozygosity at codon 605 were identified in nine of 2500 subjects and six of 1800 subjects at codon 481. These individuals were, on average, 4 cm shorter than the others. There were no differences in circulating concentrations of IGF1 or IGFBP3 between those with the gene variants and controls matched for sex, ethnicity, age, and BMI. CONCLUSION:Rare IGF1R variants exerting a moderate effect on stature are present in the general population, supporting the importance of IGF1R function in growth control and indicating that variation in height within healthy individuals may be explained, in some cases, by larger effects of a small subset of gene variants.
journal_name
Eur J Endocrinoljournal_title
European journal of endocrinologyauthors
Kansra AR,Dolan LM,Martin LJ,Deka R,Chernausek SDdoi
10.1530/EJE-12-0565subject
Has Abstractpub_date
2012-12-01 00:00:00pages
777-81issue
6eissn
0804-4643issn
1479-683Xpii
EJE-12-0565journal_volume
167pub_type
杂志文章abstract：:Previous reports of a correlation between serum dehydroepiandrosterone sulfate (DHEAS) and testosterone in both men and women have led to the suggestion that adrenal and gonadal secretion are related. In the present study, the correlation of DHEAS with testosterone and free testosterone (FT) in both normal men and wom...
journal_title：European journal of endocrinology
pub_type： 杂志文章
doi：10.1530/eje.0.1340201
更新日期：1996-02-01 00:00:00
abstract：:Effective diabetes care requires a partnership between prepared, proactive practice teams and informed, activated patients. Diabetes education helps to overcome many of the barriers to effective self-management by enabling people with diabetes to make informed decisions about their day-to-day self-care. Both psychosoc...
journal_title：European journal of endocrinology
pub_type： 杂志文章,评审
doi：10.1530/eje.0.151t019
更新日期：2004-10-01 00:00:00
abstract：OBJECTIVE:The relationship between sex hormones and hepatocellular adenoma development is well established. On the contrary, their contribution to liver adenomatosis (LA) development is still a debatable issue. Recently, inactivating mutations of hepatocyte nuclear factor-1alpha (HNF-1alpha) transcription factor gene o...
journal_title：European journal of endocrinology
pub_type： 杂志文章
doi：10.1530/EJE-07-0020
更新日期：2007-06-01 00:00:00
abstract：CONTEXT:Craniopharyngioma patients without GH therapy are at an increased cardiovascular disease (CVD) risk and particularly concerning women. No previous study on long-term GH therapy in adults with childhood onset (CO) craniopharyngioma was identified. OBJECTIVE:To investigate CVD risk in adults with CO craniopharyn...
journal_title：European journal of endocrinology
pub_type： 杂志文章
doi：10.1530/EJE-09-0449
更新日期：2009-11-01 00:00:00
abstract：OBJECTIVE:We conducted a prospective phase II clinical trial to determine the efficacy of sorafenib in patients with advanced radio-iodine refractory differentiated thyroid cancer. In this article, the long-term results are presented. PATIENTS AND METHODS:Thirty-one patients with progressive metastatic or locally adva...
journal_title：European journal of endocrinology
pub_type： 杂志文章
doi：10.1530/EJE-12-0405
更新日期：2012-11-01 00:00:00
abstract：OBJECTIVE:To study the prevalence of renal stones and nephrocalcinosis in patients with primary hyperparathyroidism (PHPT) and to appraise biochemical variables as risk factors for developing renal calcifications. DESIGN:Cross-sectional. MATERIALS AND METHODS:All patients (n=177) undergoing diagnostic evaluation and ...
journal_title：European journal of endocrinology
pub_type： 杂志文章
doi：10.1530/EJE-12-0032
更新日期：2012-06-01 00:00:00
abstract：Objective:Retrospective studies suggest that women have more active brown adipose tissue (BAT) than men, but little is known of the effect of fluctuating sex steroids across the menstrual cycle on thermogenesis in women. Design:To characterise the effects of sex and sex steroids on BAT activity we recruited healthy we...
journal_title：European journal of endocrinology
pub_type： 杂志文章
doi：10.1530/EJE-20-0184
更新日期：2020-09-01 00:00:00
abstract：BACKGROUND:Identification of pretreatment risk factors predicting relapse in patients with hyperthyroidism of Graves' disease after stopping anti-thyroid drugs (ATD) is decisive to guide therapeutic options. PURPOSE:We performed a systematic search and meta-analysis to study predictors for relapse after stopping ATD i...
journal_title：European journal of endocrinology
pub_type： 杂志文章,meta分析,评审
doi：10.1530/EJE-16-0725
更新日期：2017-01-01 00:00:00
abstract：OBJECTIVE:To compare the influence of transdermal and peroral oestrogen treatments in conjunction with cyproterone acetate (CPA) on metabolic and hormonal parameters in women with polycystic ovary syndrome (PCOS). PATIENTS AND METHODS:Twenty-four women with PCOS, aged 25.4+/-4.3 (mean+/-s.d.) years, body mass index 24...
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.0.1500215
更新日期：2004-02-01 00:00:00
abstract：:The effects of water deprivation for 3 days were studied in pregnant rats and their fetuses on day 21 of gestation. Maternal water deprivation induced a significant decrease of the body weight in both maternal and fetal rats. This weight loss was accompanied by significant increases in plasma osmolality and haematocri...
journal_title：European journal of endocrinology
pub_type： 杂志文章
doi：10.1530/eje.0.1410160
更新日期：1999-08-01 00:00:00
abstract：OBJECTIVE:To correlate anthropometric, computed tomography and fat cell data from abdominal regions with the levels of serum insulin, C-peptide, leptin, tumor necrosis factor-alpha (TNF-alpha), testosterone, 17beta-estradiol, androstenedione, dehydroepiandrosterone sulphate (DHEA-S) and sex hormone-binding globulin (SH...
journal_title：European journal of endocrinology
pub_type： 临床试验,杂志文章
doi：10.1530/eje.0.1430657
更新日期：2000-11-01 00:00:00
abstract：BACKGROUND:It is well established that ovarian steroids modulate gonadotropin secretion from anterior pituitary cells. It has been speculated that insulin and IGF-I might influence gonadotropin secretion. OBJECTIVE:To investigate the effects of IGF-I and estradiol alone, or combinations of IGF-I with insulin and estra...
journal_title：European journal of endocrinology
pub_type： 杂志文章
doi：10.1530/eje.0.1440073
更新日期：2001-01-01 00:00:00
abstract：:Bone mineral density (BMD), bone mineral content and body composition were determined in 47 middle-aged (mean age 47.9 +/- 1.1 years) women with Turner's syndrome. Bone mineral density was measured in the forearm, femoral neck and total body. The women investigated had a BMD lower than the normal mean. When expressed ...
journal_title：European journal of endocrinology
pub_type： 杂志文章
doi：10.1530/eje.0.1320047
更新日期：1995-01-01 00:00:00
abstract：BACKGROUND:Hypochondroplasia (HCH) is a skeletal dysplasia inherited in an autosomal dominant manner due, in most cases, to mutations in the fibroblast growth factor receptor 3 (FGFR3). Acanthosis nigricans (AN) is a velvety and papillomatous pigmented hyperkeratosis of the skin, which has been recognized in some genet...
journal_title：European journal of endocrinology
pub_type： 杂志文章
doi：10.1530/EJE-08-0393
更新日期：2008-09-01 00:00:00
abstract：:The study was undertaken to investigate the interaction between the release of endothelin-1 (ET-1) and prolactin (PRL) from human decidualized endometrial cells, and the effects of transforming growth factor (TGF)-beta 1 on the release of ET-1 and PRL from human decidual cells in the early stage of pregnancy. Stromal ...
journal_title：European journal of endocrinology
pub_type： 杂志文章
doi：10.1530/eje.0.1370200
更新日期：1997-08-01 00:00:00
abstract：OBJECTIVE:Adrenocorticotropic hormone (ACTH) is the primary secretagogue stimulating secretion of adrenal androgens (AA). Yet, genetic and environmental factors are assumed to play a determining role in the regulation of their biosynthesis and thus might explain the high variability of AA levels. Here we investigate th...
journal_title：European journal of endocrinology
pub_type： 杂志文章
doi：10.1530/eje.1.02015
更新日期：2005-11-01 00:00:00
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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：:none. ...
journal_title：European journal of endocrinology
pub_type： 杂志文章
doi：10.1530/EJE-20-1426
更新日期：2021-01-01 00:00:00
abstract：OBJECTIVE:17-Hydroxyprogesterone (17-OHP) screening for classical congenital adrenal hyperplasia (CAH) is part of many newborn screening programs worldwide. Cut-off values are relatively high, and screening sensitivity does not reach 100%. Recently, the glucocorticoid receptor (GR) N363S-variant has been linked to rela...
journal_title：European journal of endocrinology
pub_type： 杂志文章
doi：10.1530/EJE-08-0639
更新日期：2009-04-01 00:00:00
abstract：:Objective To explore whether gestational prolactin and breast increase are markers of metabolic health in pregnancy and on long-term, in PCOS. Design Follow-up study. Women with PCOS, according to the Rotterdam criteria (n = 239), former participants of the randomized controlled trial (RCT) PregMet were invited, 131 p...
journal_title：European journal of endocrinology
pub_type： 杂志文章
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更新日期：2019-06-01 00:00:00
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journal_title：European journal of endocrinology
pub_type： 临床试验,杂志文章,多中心研究
doi：10.1530/EJE-12-0631
更新日期：2012-12-10 00:00:00
abstract：OBJECTIVE:Late diagnosis hinders proper management of small intestine neuroendocrine carcinoma (SI-NEC) patients. The olfactory receptor, family 51, subfamily E, member 1 (OR51E1) has been reported as a potential novel SI-NEC marker, without protein expression recognition. Thus, we further studied whether the encoded p...
journal_title：European journal of endocrinology
pub_type： 杂志文章
doi：10.1530/EJE-12-0814
更新日期：2013-01-17 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：OBJECTIVE:This study aimed to analyze the autonomic control of heart rate variability (HRV) in subjects receiving chronic l-thyroxine (l-T4) treatment after total thyroidectomy and (131)I therapy for differentiated thyroid carcinoma. METHODS:Blood pressure (BP) and sympatho-vagal activity (evaluated by power spectral ...
journal_title：European journal of endocrinology
pub_type： 杂志文章
doi：10.1530/eje.1.01918
更新日期：2005-06-01 00:00:00
abstract：OBJECTIVE:To assess the LH response of the pituitary gland to GnRH stimulation in healthy women with a mutant beta-subunit (Trp8 to Arg8 and Ile15 to Thr15). DESIGN:Clinical study. PATIENTS:We studied 40 healthy non-pregnant Japanese women of known zygosity for the LH beta-subunit gene (3 homozygotes for the mutant g...
journal_title：European journal of endocrinology
pub_type： 临床试验,杂志文章
doi：10.1530/eje.0.1430375
更新日期：2000-09-01 00:00:00
abstract：:Postmenopausal hyperandrogenism is a state of relative or absolute androgen excess originating from either the adrenals and/or the ovaries, clinically manifested as the appearance and/or increase in terminal hair growth or the development of symptoms/signs of virilization. In either settings, physicians need to evalua...
journal_title：European journal of endocrinology
pub_type： 杂志文章,评审
doi：10.1530/EJE-14-0468
更新日期：2015-02-01 00:00:00
abstract：OBJECTIVE:This retrospective study describes the role of serum thyroglobulin (Tg) in relation to tumor characteristics in the prediction of persistent/recurrent disease in patients with differentiated thyroid cancer (DTC) with negative Tg at the time of ablation. DESIGN:Between 1989 and 2006, 94 out of 346 (27%) patie...
journal_title：European journal of endocrinology
pub_type： 杂志文章
doi：10.1530/EJE-07-0399
更新日期：2008-01-01 00:00:00
abstract：Introduction:Pathologically high growth hormone (GH) and insulin-like growth factor-1 (IGF-1) levels in patients with acromegaly are associated with arthropathy. Several studies highlight the potential role of the GH/IGF-1 axis in primary osteoarthritis (OA). We aimed to disentangle the role of IGF-1 levels in primary ...
journal_title：European journal of endocrinology
pub_type： 杂志文章
doi：10.1530/EJE-20-0904
更新日期：2021-01-01 00:00:00
abstract：OBJECTIVE:The antagonism of Agouti protein (AP) and Agouti-related protein on melanocortin receptors suggests an inhibitory role in the regulation of steroidogenesis. However, we have previously demonstrated that ectopic AP overexpression increased restraint-induced corticosterone release and adrenal reactivity to ACTH...
journal_title：European journal of endocrinology
pub_type： 杂志文章
doi：10.1530/eje.0.1510613
更新日期：2004-11-01 00:00:00
abstract：AIM:To describe volumes of orbital fat (FV) and extraocular muscles (MV) in Graves' orbitopathy (GO) as a function of the duration of GO. PATIENTS:i) Cross-sectional survey among 95 consecutive patients with untreated GO who had been referred to the combined thyroid-eye clinics of our university hospital. ii) Longitud...
journal_title：European journal of endocrinology
pub_type： 杂志文章
doi：10.1530/EJE-14-1140
更新日期：2015-08-01 00:00:00
