Abstract:
OBJECTIVE:The kisspeptin/GPR54 pathway has been proven to be crucial in the process of puberty onset, yet the polymorphisms in the KISS1 gene and their relationships with central precocious puberty (CPP) have not been investigated. This study was performed to reveal the relationship between the gene and the disease. DESIGN AND METHODS:272 Chinese Han girls diagnosed to be CPP patients were recruited as Case Group I, 43 unrelated African women as Case Group II, and 288 unrelated normal Chinese Han girls as Control Group. Polymorphism scans of the KISS1 gene were performed for the first time by bidirectional resequencing of the whole gene in a subset of the patients, and then by ligase detection reaction some of the polymorphisms identified were typed in the two groups and the respective haplotypes were constructed. The relationships of the typed polymorphisms and the haplotypes with CPP were evaluated by an association study between genotypes and phenotypes. RESULTS:By resequencing, eight polymorphisms were identified, five of which were typed forming 18 haplotypes. Although one novel nonsynonymous single nucleotide polymorphism substituting one amino acid in kisspeptin (P110T) was found to be statistically related to the disease (P = 0.025), no further supporting evidence has yet been found. The other polymorphisms and all the haplotypes were not found to be related. CONCLUSION:The polymorphism scanning and typing of KISS1 uncovered several potentially meaningful polymorphisms, but the conclusion was not solid and further studies are necessary for function validation of these polymorphisms.
journal_name
Eur J Endocrinoljournal_title
European journal of endocrinologyauthors
Luan X,Zhou Y,Wang W,Yu H,Li P,Gan X,Wei D,Xiao Jdoi
10.1530/EJE-07-0061subject
Has Abstractpub_date
2007-07-01 00:00:00pages
113-8issue
1eissn
0804-4643issn
1479-683Xpii
157/1/113journal_volume
157pub_type
杂志文章abstract::We report one patient with 21-hydroxylase deficiency and associated bilateral macro-orchidism caused by nodular hyperplasia of testicular adrenal rests (TAR). The boy, referred to us when 10 years old, was born with bilateral cryptorchidism that was treated unsuccessfully with i.m. injections of human chorionic gonado...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.0.1410231
更新日期:1999-09-01 00:00:00
abstract:CONTEXT:There is evidence to suggest that IGF-I plays a role in regulating bone turnover. OBJECTIVE:To evaluate the relationships between serum concentrations of IGF-I and IGF-binding protein-3 (IGFBP-3), and bone metabolism markers in healthy children. DESIGN AND SETTING:Prospective cross-sectional study. SUBJECTS ...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/EJE-07-0402
更新日期:2007-11-01 00:00:00
abstract:OBJECTIVE:To evaluate the effect of the growth factor activin A on the secretion of prolactin (PRL) and GH in cultured GH3 cells. METHODS:The concentrations of PRL and GH secreted from GH3 cells cultured in media with and without activin A were measured by RIA, and the expression of PRL mRNA and GH mRNA were analyzed ...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.0.1420506
更新日期:2000-05-01 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: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
abstract:OBJECTIVE:The alpha(2)-adrenergic receptors are involved in the effects of catecholamines on energy metabolism. Of three known subtypes with differential expression, alpha(2A)-adrenergic receptors are also localized in adipose tissue where they counteract the lipolytic activity of beta-adrenergic receptors. This study ...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.0.1440291
更新日期:2001-03-01 00:00:00
abstract:BACKGROUND:Sleep behavior is changing toward shorter sleep duration and a later chronotype. It results in a sleep debt that is acquitted on work-free days, inducing a small but recurrent sleep misalignment each week, referred to as "social jetlag". These sleep habits could affect health through misalignment with circad...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/EJE-16-0188
更新日期:2016-11-01 00:00:00
abstract:OBJECTIVES:The French Acromegaly Registry records data of acromegalic patients' since 1992 in French, Belgian (Liège), and Swiss (Lausanne) centers. We studied the prevalence of diabetes in this population looking for risk factors. Patients from one of the centers (Reims) were then analyzed more thoroughly. METHODS:Th...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/EJE-10-1050
更新日期:2011-06-01 00:00:00
abstract::Hypothyroidism is associated with increased morbidity from cardiovascular disease, and an increase in serum osteoprotegerin (OPG) has recently been reported to be associated with the severity of coronary heart disease and cardiovascular mortality. The present study was designed to examine whether hypothyroidism causes...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.1.01870
更新日期:2005-03-01 00:00:00
abstract:OBJECTIVE:To analyse trends in diagnostic practices of thyroid diseases and to relate them to the increase in thyroid cancer incidence in France over time. DESIGN:From 1980 to 2000, a French retrospective multicentric (three endocrinology and three nuclear medicine centres) study of thyroid diseases was conducted on 2...
journal_title:European journal of endocrinology
pub_type: 杂志文章,多中心研究
doi:10.1530/eje.0.1500133
更新日期:2004-02-01 00:00:00
abstract:OBJECTIVE:The intrarenal renin-angiotensin system (RAS) activation plays a pivotal role in immunoglobulin A nephropathy (IgAN) pathogenesis, which is still largely undefined. Recently, vasopressin (AVP) has been advocated to contribute to the genesis and progression of chronic kidney diseases (CKD) directly, and indire...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/EJE-11-0512
更新日期:2011-10-01 00:00:00
abstract::Children with cystic fibrosis (CF) have problems with poor linear growth and inadequate weight gain. Nutritional augmentation has been the mainstay of therapy for improving both weight and height in CF; however, inadequate growth continues to be a problem. Furthermore, protein catabolism has been documented even in no...
journal_title:European journal of endocrinology
pub_type: 杂志文章,评审
doi:10.1530/eje.0.151s081
更新日期:2004-08-01 00:00:00
abstract::We studied the roles played by the renin-angiotensin system in inducing hypertension in nine patients with Cushing's syndrome (CS) resulting from adrenocortical adenoma, and compared them with those in patients with primary aldosteronism (PA), renovascular hypertension (RVH) and essential hypertension (EH). In the CS ...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.0.1310582
更新日期:1994-12-01 00:00:00
abstract:CONTEXT:Chronic hypoxia induces complex metabolic and endocrine adaptations. High-altitude (HA) exposure is a physiological model of hypoxia. OBJECTIVE:To further investigate the endocrine and metabolic responses to extreme HA. METHODS:We studied nine male elite climbers at sea level and at 5200 m after climbing Mt. ...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/EJE-07-0355
更新日期:2007-12-01 00:00:00
abstract::We report our experience in treating growth delay in boys with isolated growth hormone deficiency (IGHD) receiving biosynthetic human growth hormone. The study was performed in 15 boys with IGHD receiving GH. At the chronological age of 13.1 (1.1) years (SD), 13 were prepubertal, two were in early puberty and there wa...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.0.1300065
更新日期:1994-01-01 00:00:00
abstract:OBJECTIVE:GH deficiency (GHD) and glucocorticoid excess are associated with increased risk of fragility fractures. We aimed to evaluate whether the prevalence of vertebral fractures may be influenced by glucocorticoid over-replacement in hypopituitary males with GHD. DESIGN:Cross-sectional study. METHODS:Fifty-one ad...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/EJE-10-0125
更新日期:2010-07-01 00:00:00
abstract:OBJECTIVE:Previous evidence has suggested that a low sex hormone-binding globulin (SHBG) concentration is associated with insulin-resistance and a low adiponectin concentration. We investigated the association between SHBG and the risk of hyperglycemia in each sex and we determined potential interactions between SHBG a...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/EJE-09-0202
更新日期:2009-07-01 00:00:00
abstract::We have identified and characterized insulin-like growth factor I (IGF-I) and IGF-II/mannose-6-phosphate (IGF-II/M6P) receptors in bovine adrenal cells. Iodine-125-labeled IGF-I ([125I]IGF-I) binding was characteristic of the IGF-I receptor, and binding kinetics as well as receptor densities were similar in cortical a...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.0.1300265
更新日期:1994-03-01 00:00:00
abstract::We report the clinical history and results of endocrine investigations in two brothers born to consanguineous parents, who presented with hypokalemia and arterial hypertension when they were aged 2 and 6 years. The hormonal serum assay results, including extremely low values for aldosterone and plasma renin activity, ...
journal_title:European journal of endocrinology
pub_type: 杂志文章,评审
doi:10.1530/eje.0.1350238
更新日期:1996-08-01 00:00:00
abstract::Systematic studies of autosomal dominant osteopetrosis (ADO) were followed by the identification of underlying mutations giving unique possibilities to perform translational studies. What was previously designated ADO1 turned out to be a high bone mass phenotype caused by a missense mutation in the first propeller of ...
journal_title:European journal of endocrinology
pub_type: 杂志文章,评审
doi:10.1530/EJE-13-0136
更新日期:2013-07-13 00:00:00
abstract:OBJECTIVE:Mutations in HESX1 represent a rare cause of GH deficiency (GHD) associated with a broad spectrum of other anomalies. We searched for causative mutations in a cohort of 244 Italian patients affected by combined and isolated GHD (IGHD). METHODS:The HESX1 gene-coding region and exon-intron boundaries were scre...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/EJE-11-0047
更新日期:2011-05-01 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:The type 2 deiodinase (D2) is a key enzyme for intracellular triiodothyronine (T(3)) generation. A single-nucleotide polymorphism in D2 (Thr92Ala) has been associated with increased insulin resistance in nondiabetic and type 2 diabetes (DM2) subjects. Our aim was to evaluate whether the D2 Thr92Ala polymorphi...
journal_title:European journal of endocrinology
pub_type: 杂志文章,meta分析
doi:10.1530/EJE-10-0419
更新日期:2010-09-01 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::The experimental model of chronic inhibition of nitric oxide (NO) production has proven to be a useful tool to study cardiovascular and renal lesions produced by this type of hypertension, which are similar to those found in human hypertension. It also offers a unique opportunity to study the interaction of NO with th...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.1.02314
更新日期:2007-01-01 00:00:00
abstract:BACKGROUND:Cross-sectional studies have shown that more than 50% of patients with congestive heart failure (CHF) have decreased bone mineral density (BMD). There is limited knowledge about the longitudinal changes of BMD and how to treat bone loss in patients with CHF. METHODS:The present study was a prospective, long...
journal_title:European journal of endocrinology
pub_type: 杂志文章,随机对照试验
doi:10.1530/EJE-06-0614
更新日期:2007-03-01 00:00:00
abstract:OBJECTIVE:Patients with type 2 diabetes mellitus (T2DM) have an increased risk of fractures and thiazolidinediones (TZDs) increase this risk. TZDs stimulate the expression of sclerostin, a negative regulator of bone formation, in vitro. Abnormal sclerostin production may, therefore, be involved in the pathogenesis of i...
journal_title:European journal of endocrinology
pub_type: 杂志文章,多中心研究,随机对照试验
doi:10.1530/EJE-11-1061
更新日期:2012-04-01 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:OBJECTIVE:To assess the effect of age on clinical, endocrine and sonographic features associated with polycystic ovary syndrome (PCOS) in normogonadotrophic anovulatory infertile women of reproductive years. DESIGN:Cross-sectional study. METHODS:Four hundred and seventy-two oligo-amenorrhoeic infertile patients, pres...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.0.1450749
更新日期:2001-12-01 00:00:00
abstract:BACKGROUND:An increased cardiovascular risk and mortality in hypopituitary patients receiving conventional hormonal treatment without GH replacement have been shown in several studies. Various atherogenic risk factors including endothelial dysfunction - an early event in the atherogenesis - are more expressed in adults...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.0.1470333
更新日期:2002-09-01 00:00:00