Abstract:
:Orthodenticle homolog 2 (OTX2) is a homeobox family transcription factor required for brain and eye formation. Various genetic alterations in OTX2 have been described, mostly in patients with severe ocular malformations. In order to expand the knowledge of the spectrum of OTX2 mutation, we performed OTX2 mutation screening in 92 patients with combined pituitary hormone deficiency (CPHD). We directly sequenced the coding regions and exon-intron boundaries of OTX2 in 92 CPHD patients from the Dutch HYPOPIT study in whom mutations in the classical CPHD genes PROP1, POU1F1, HESX1, LHX3, and LHX4 had been ruled out. Among 92 CPHD patients, we identified a novel heterozygous missense mutation c.401C>G (p.Pro134Arg) in a patient with CPHD, pituitary malformation, and an underdeveloped left optic nerve. Binding of both the wild-type and mutant OTX2 proteins to bicoid binding sites was equivalent; however, the mutant OTX2 exhibited decreased transactivation. We describe a novel missense heterozygous OTX2 mutation that acts as a dominant negative inhibitor of target gene expression in a patient with CPHD, pituitary malformation, and optic nerve hypoplasia. We provide an overview of all OTX2 mutations described till date, which show that OTX2 is a promising candidate gene for genetic screening of patients with CPHD or isolated GH deficiency (IGHD). As the majority of the OTX2 mutations found in patients with CPHD, IGHD, or short stature have been found in exon 5, we recommend starting mutational screening in those patients in exon 5 of the gene.
journal_name
Eur J Endocrinoljournal_title
European journal of endocrinologyauthors
Gorbenko Del Blanco D,Romero CJ,Diaczok D,de Graaff LC,Radovick S,Hokken-Koelega ACdoi
10.1530/EJE-12-0333subject
Has Abstractpub_date
2012-09-01 00:00:00pages
441-52issue
3eissn
0804-4643issn
1479-683Xpii
EJE-12-0333journal_volume
167pub_type
杂志文章,多中心研究abstract::Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders resulting from deficiency of one of the five enzymes required for synthesis of cortisol in the adrenal cortex. The most common form of the disease is classic 21-hydroxylase deficiency, which is characterized by decreased synthesis of gluc...
journal_title:European journal of endocrinology
pub_type: 杂志文章,评审
doi:10.1530/eje.0.151u077
更新日期:2004-11-01 00:00:00
abstract:OBJECTIVE:To investigate the prevalence of thyroid dysfunction (TD) and IgG subclasses of thyroid autoantibodies (TAs) and to determine the predictive factors of TD in chronic hepatitis C (CHC) patients. DESIGN:Three hundred and twelve untreated hepatitis C virus-infected patients without a history of TD or treatment ...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/EJE-12-0775
更新日期:2013-04-15 00:00:00
abstract::Iodine incorporation into thyroglobulin is dependent on the activities of both thyroperoxidase (TPO) and thyroid dual oxidase 2 (DuOx2). Although TPO expression is decreased in some thyroid nodular lesions, DuOx1 and 2 mRNA expressions are maintained, but DuOx H2O2-generating activity has never been evaluated in such ...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/EJE-07-0602
更新日期:2008-02-01 00:00:00
abstract::Objective Pituitary adenoma MRI T2 signal intensity associates with tumor characteristics including responsiveness to somatostatin analogs (SSAs). These analyses determined whether baseline T2 signal intensity predicts response to primary medical treatment with long-acting SSA. Design Post-hoc analyses of the prospect...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/EJE-18-0254
更新日期:2018-12-01 00:00:00
abstract:OBJECTIVE:Confirmatory testing of suspected primary aldosteronism (PA) requires an extensive medication switch that can be difficult for patients with severe complicated hypertension and/or refractory hypokalemia. For this reason, we investigated the effect of chronic antihypertensive medication on confirmatory testing...
journal_title:European journal of endocrinology
pub_type: 临床试验,杂志文章
doi:10.1530/EJE-11-0914
更新日期:2012-04-01 00:00:00
abstract:OBJECTIVE:There are limited data on cardiometabolic risk factors and the prevalence of metabolic syndrome (MetS) across the different PCOS phenotypes in Caucasian population. Lipid accumulation product (LAP) is a clinical surrogate marker that could be used for evaluation of MetS in clinical practice. The aim of the st...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/EJE-16-0775
更新日期:2016-12-01 00:00:00
abstract::Thyrotropin (TSH)-secreting adenomas (TSHomas) are the rarest form of pituitary adenomas, and most endocrinologists will see few cases in a lifetime, if any. In most cases, the diagnostic approach is complicated and cases may be referred after being presented as a syndrome of inappropriate TSH secretion or as a pituit...
journal_title:European journal of endocrinology
pub_type: 杂志文章,评审
doi:10.1530/EJE-16-1029
更新日期:2017-10-01 00:00:00
abstract::We investigated the ontogeny of melatonin synthesis during fetal maturation by measuring the melatonin (MLT) and 6-hydroxymelatonin sulfate (MLTS) excretion in the urine of male infants aged 2-7 days and gestational age 26-42 weeks. We found a negative correlation between advancing gestational age and the MLT and MLTS...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.0.1350184
更新日期:1996-08-01 00:00:00
abstract::In vitro studies indicate a physiological role for insulin-like growth factor I (IGF-I) in paracrine regulation of testicular function and recent clinical studies suggest a potential role for growth hormone (GH) and/or IGF-I in the treatment of hypogonadotrophic states in males. This study aimed to examine the effects...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.0.1310405
更新日期:1994-10-01 00:00:00
abstract:OBJECTIVE:Cushing's disease (CD) is usually caused by ACTH-secreting pituitary microadenomas, while silent corticotroph adenomas (SCA) are macroadenomas without Cushingoid features. However, the molecular mechanism(s) underlying their different tumor growth remains unknown. The aim of the current study was to evaluate ...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/EJE-10-0245
更新日期:2010-10-01 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:OBJECTIVE:The purpose of this meta-analysis was to examine the evidence for the effectiveness of aerobic exercise interventions on reducing insulin resistance markers in obese children and/or adolescents. A secondary outcome was change in percentage of body fat. METHODS:A computerized search was made from seven databa...
journal_title:European journal of endocrinology
pub_type: 杂志文章,meta分析
doi:10.1530/EJE-14-0291
更新日期:2014-10-01 00:00:00
abstract::Stem cell terminology has entered the lexicon of medical practitioners even though the application of harvesting stem cells to treat diseases other than haematological disorders is not yet a reality in clinical practice. All branches of medicine will be affected by the new technology, more so those related to regenera...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.0.151u003
更新日期:2004-11-01 00:00:00
abstract:BACKGROUND:The aim was to evaluate changes of bone mineral density (BMD) and markers of bone turnover in healthy adolescents, and in adolescent users of combined oral contraceptives (COCs) with different ethinylestradiol (EE) contents. METHODS:In this prospective crossover study, 56 healthy females (15-19.5 years) wit...
journal_title:European journal of endocrinology
pub_type: 杂志文章,随机对照试验
doi:10.1530/EJE-11-1047
更新日期:2012-06-01 00:00:00
abstract::Osteogenesis imperfecta (OI) is an inherited skeletal dysplasia characterized by bone fragility and skeletal deformities. While the majority of cases are associated with pathogenic variants in COL1A1 and COL1A2, the genes encoding type I collagen, up to 25% of cases are associated with other genes that function within...
journal_title:European journal of endocrinology
pub_type: 杂志文章,评审
doi:10.1530/EJE-20-0299
更新日期:2020-10-01 00:00:00
abstract:OBJECTIVE:Postmenopausal estradiol (E(2)) levels vary widely between individuals and this variation is an important determinant of diseases such as osteoporosis. It has been suggested that the estrogen receptor alpha (ESR1) gene may influence peripheral E(2) levels, but the role of common sequence variations in the ESR...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.1.01973
更新日期:2005-08-01 00:00:00
abstract::Fifty-five patients with adult-onset GH deficiency (mean age, 49 years) were enrolled in a placebo-controlled, crossover study to investigate the effects of GH therapy on exercise capacity, body composition, and quality of life (QOL). GH and placebo were administered for 9 months each, separated by a 4-month washout p...
journal_title:European journal of endocrinology
pub_type: 临床试验,杂志文章,多中心研究,随机对照试验
doi:10.1530/eje.1.01971
更新日期:2005-09-01 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:OBJECTIVE:Herpes simplex virus type 1 (HSV-1)-derived vectors are known to be effective tools to deliver transgenes into normal and neoplastic anterior pituitary (AP) cells in vitro. Our objective was to assess the in vitro and in vivo effects of tsK/beta-gal, a temperature-sensitive HSV-1-derived vector harbouring the...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.0.1450497
更新日期:2001-10-01 00:00:00
abstract:OBJECTIVE:Surgery remains a common form of treatment for sellar and parasellar tumors involving the pituitary gland and adjacent structures. Studies have suggested that pituitary surgery procedures performed at high-volume centers are associated with less adverse outcomes, yet it remains unclear which types of patients...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/EJE-09-0043
更新日期:2009-08-01 00:00:00
abstract::Evidence suggests that insulin resistance and hyperinsulinaemia are associated with ovarian hyperandrogenism and menstrual irregularities in polycystic ovary syndrome (PCOS). Sixteen obese women with PCOS on a weight-maintaining diet were studied before and after 6 months of therapy with the insulin-sensitizing antidi...
journal_title:European journal of endocrinology
pub_type: 临床试验,杂志文章
doi:10.1530/eje.0.1380269
更新日期:1998-03-01 00:00:00
abstract:OBJECTIVE:To compare the presentation and clinical course of Graves' disease (GD) in two pediatric populations consisting of 28 patients with Down's syndrome (DS) and 109 controls without DS respectively. DESIGN AND METHODS:The evolution over time of GD was determined in both groups according to the clinical changes a...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/EJE-09-0751
更新日期:2010-03-01 00:00:00
abstract::Pituitary tumours express both somatostatin and dopamine receptors. Medical treatment with somatostatin analogues is a cornerstone of GH- and TSH-secreting tumours, while treatment with dopamine agonists is a cornerstone of prolactin-secreting tumours. Dopamine agonists have also demonstrated some efficacy in patients...
journal_title:European journal of endocrinology
pub_type: 杂志文章,评审
doi:10.1530/eje.1.02348
更新日期:2007-04-01 00:00:00
abstract:OBJECTIVE:To investigate the effect of Rosiglitazone in three patients treated with bilateral adrenalectomy followed by hyperpigmentation and hypersecretion of ACTH. PATIENTS AND METHODS:One patient had increasing ACTH after previous transsphenoidal surgery for Nelson's syndrome, and two patients without pituitary ade...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.1.01994
更新日期:2005-10-01 00:00:00
abstract:CONTEXT AND OBJECTIVE:Adipokines are involved in the etiopathology of obesity-related disorders. Since the role of adipokine retinol-binding protein-4 (RBP4) in obesity remains uncertain and its relationship with other adipokines and inflammatory markers has not been examined in detail, we investigated the relationship...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/EJE-08-0866
更新日期:2009-07-01 00:00:00
abstract:BACKGROUND:Neutrophil gelatinase-associated lipocalin (NGAL) and matrix metalloproteinase-9 (MMP-9) have been considered as important mediators of vascular remodeling and plaque instability. The formation of a complex with NGAL and MMP-9 is crucial for atherotic plaque erosion and thrombus formation. In women with poly...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/EJE-07-0822
更新日期:2008-04-01 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:OBJECTIVE:Although fibroblast growth factor 23 (FGF23) has been implicated in the pathogenesis of cardiovascular disease, the relationship between FGF23 and cardiovascular disease has not been well characterized in the general population. The aim of this study was to determine whether serum FGF23 is independently assoc...
journal_title:European journal of endocrinology
pub_type: 杂志文章,随机对照试验
doi:10.1530/EJE-11-0577
更新日期:2011-11-01 00:00:00
abstract:OBJECTIVE:Disturbed renal function may play an important role in the clinico-pathological presentation of primary hyperparathyroidism (pHPT). We studied the influence of renal function on the clinico-pathological characteristics of 141 patients (123 women and 18 men) with surgically proven pHPT. METHODS:The 141 patien...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.0.1480597
更新日期:2003-06-01 00:00:00
abstract:OBJECTIVE:The aim of the study was to evaluate the effect of intraoperative high-field (1.5 Tesla) magnetic resonance imaging (MRI) on the results of transsphenoidal surgery of GH-secreting pituitary macroadenomas. METHODS:Twenty-three acromegalic patients (mean tumor size, 25 +/- 12 mm; untreated preoperative GH, 4.2...
journal_title:European journal of endocrinology
pub_type: 临床试验,杂志文章
doi:10.1530/eje.1.01970
更新日期:2005-08-01 00:00:00