Abstract:
OBJECTIVES:The Asp727Glu polymorphism in the TSH receptor (TSHR) gene is associated with serum TSH levels. However, the proportion of genetic variation accounted for by this polymorphism is unknown. In this study, we (1) examined the association of the Asp727Glu polymorphism with thyroid size, serum levels of TSH, thyroid hormones, and thyroid antibodies in 1241 healthy Danish twin individuals and (2) assessed the contribution of the polymorphism to the trait variation and the genetic variance. MEASUREMENTS:The effect of the genotype on the traits (mean +/- SD) was established; associations between the TSHR-Asp727Glu polymorphism and measures of thyroid homeostasis were assessed and the effect of the polymorphism on the trait's phenotypic variability was quantified by incorporating the genotype information in structural equation modelling. RESULTS:The genotype distribution was Asp/Asp 84.9%; Asp/Glu 14.5% and Glu/Glu 0.6%. Carriers of the TSHR-Glu727 allele had lower TSH levels (noncarriers vs. carriers: 1.78 +/- 0.93 vs. 1.60 +/- 0.84 mU/l, P = 0.04). Regression analysis showed an association between the TSHR-Asp727Glu polymorphism and serum TSH (P = 0.007). The polymorphism accounted for 0.91% of the total phenotypic variance in serum TSH levels. Including the genotype in quantitative genetic modelling improved the model fit (P = 0.001); however, the genetic influence on serum TSH not attributable to this specific genetic variant was only reduced from 68.2% to 67.8%. The polymorphism was not significantly associated with thyroid size, thyroid hormones or thyroid antibody levels. CONCLUSIONS:The TSHR-727Glu allele was associated with decreasing TSH levels; however, the contribution to the genetic variance was very small. No association was found with other thyroid-related measures.
journal_name
Clin Endocrinol (Oxf)journal_title
Clinical endocrinologyauthors
Hansen PS,van der Deure WM,Peeters RP,Iachine I,Fenger M,Sørensen TI,Kyvik KO,Visser TJ,Hegedüs Ldoi
10.1111/j.1365-2265.2007.02820.xsubject
Has Abstractpub_date
2007-06-01 00:00:00pages
827-32issue
6eissn
0300-0664issn
1365-2265pii
CEN2820journal_volume
66pub_type
杂志文章abstract:OBJECTIVE:Heterozygous inactivating mutations of the calcium-sensing receptor (CaR) gene cause familial hypocalciuric hypercalcaemia (FHH), a generally benign disorder characterized by mild to moderate PTH-dependent hypercalcaemia. We aimed to identify the causative CaR mutations in three families with FHH and examine ...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.2006.02512.x
更新日期:2006-05-01 00:00:00
abstract::Differentiated thyroid cancer (DTC) is the most common malignancy of the endocrine system. There has been a significant increase in its incidence over the past two decades attributable mainly to the use of more sensitive diagnostic modalities. Ultrasound-guided fine needle aspiration cytology is the mainstay of diagno...
journal_title:Clinical endocrinology
pub_type: 杂志文章,评审
doi:10.1111/cen.13369
更新日期:2017-08-01 00:00:00
abstract:OBJECTIVE:The success of a low-iodine diet (LID) is best determined by measurement of 24-h urine iodine (U-I) excretion. The aim of this study was to determine reliable estimates for 24-h U-I based on spot-urine samples and to provide cut-offs to determine the effectiveness of LID preparation. DESIGN:We prospectively ...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.2009.03774.x
更新日期:2010-07-01 00:00:00
abstract:OBJECTIVE:We compared IGF-1 and IGFBP3 concentrations in a group of adults treated for brain tumours in childhood with those of matched controls, and investigated the relationship between the GH secretory pattern and IGF-1/IGFBP3 concentrations in the entire group. DESIGN:We performed 24 h serum GH profiles using 20 m...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1046/j.1365-2265.1998.00585.x
更新日期:1998-11-01 00:00:00
abstract:OBJECTIVE:Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD) is characterized by high androgen levels, ambiguous genitalia or premature pubarche, increased height velocity and skeletal maturation. Considering the possibility of changes in the IGF system components depending on the state of c...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.2004.02075.x
更新日期:2004-07-01 00:00:00
abstract::Eleven women with secondary amenorrhoea and hyperprolactinaemia were treated with lisuride, a new semisynthetic ergot derivative. Acute administration of lisuride (100 microgram orally) significantly suppressed serum prolactin (PRL) levels in nine out of eleven subjects. In these nine patients, prolonged treatment wit...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1978.tb01506.x
更新日期:1978-12-01 00:00:00
abstract::Endocrine autoimmunity is known to be characterized by the presence of specific autoantibodies and from the histopathological point of view by lymphocytic infiltration in the target tissue. The presence of mononuclear cell infiltrates is the pathological hallmark of most endocrine diseases characterized by an autoimmu...
journal_title:Clinical endocrinology
pub_type: 杂志文章,评审
doi:10.1111/j.1365-2265.1994.tb01816.x
更新日期:1994-11-01 00:00:00
abstract::The clinical features, diagnosis and management of 16 consecutive patients with ectopic ACTH production are described and biochemical data are compared with those of 48 consecutive patients with pituitary-dependent Cushing's disease. In 10 cases the ectopic ACTH secreting tumour was completely occult to routine clinic...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1986.tb01667.x
更新日期:1986-06-01 00:00:00
abstract:OBJECTIVE:Binding sites specific for growth hormone have been identified in the brain, but the action of GH on the central nervous system is still poorly understood. DESIGN:In a double-blind, placebo-controlled 21-month trial with a cross-over design, with each treatment period lasting for 9 months, we investigated th...
journal_title:Clinical endocrinology
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1046/j.1365-2265.1996.617439.x
更新日期:1996-03-01 00:00:00
abstract:OBJECTIVE:There is a lack of normal reference data on urinary GH (u-GH) excretion in children. We have investigated the impact of age, gender, pubertal development and body mass on reference values for u-GH excretion in normally growing non-obese and obese children. STUDY DESIGN:u-GH levels were evaluated in 1153 heal...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1046/j.1365-2265.1999.00728.x
更新日期:1999-06-01 00:00:00
abstract:BACKGROUND:Pregnancy and lactation comprise a critical window spanning all seasons during which maternal vitamin D status potentially may influence the long-term health of the newborn. Women typically receive calcium/vitamin D supplementation through antenatal vitamins, but there has been limited serial evaluation of m...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/cen.12989
更新日期:2016-05-01 00:00:00
abstract::Men with hypogonadotropic hypogonadism (HH) are typically azoospermic, and yet HH is one of the few treatable forms of male infertility. Sperm induction protocols using gonadotrophins aim to replicate the natural endocrine control of spermatogenesis. Previously virilised men with adult-onset HH and normal testicular v...
journal_title:Clinical endocrinology
pub_type: 杂志文章,评审
doi:10.1111/cen.13850
更新日期:2018-12-01 00:00:00
abstract::Endocrine studies, using the four hypothalamic releasing hormones, gonadotrophin releasing hormone, thyrotrophin releasing hormone, corticotrophin releasing hormone and growth hormone releasing hormone, were performed in 33 males after admission with a major head injury. The test was repeated 7 days later in all 33 pa...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1988.tb00257.x
更新日期:1988-08-01 00:00:00
abstract:OBJECTIVES:Constitutional delay in growth and adolescence (CDGA) is common in boys, some of whom request treatment to accelerate growth and attainment of secondary sexual characteristics. The aims of this study were to confirm that a 3-month course of intramuscular testosterone oenanthate does not impair final height i...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1046/j.1365-2265.2003.01692.x
更新日期:2003-03-01 00:00:00
abstract:OBJECTIVE:To determine if patients with untreated Cushing's disease have higher serum insulin-like growth factor-1 (IGF-1) compared to matched controls, and if IGF-1 decreases following remission of Cushing's disease. DESIGN:Retrospective case-control study matching Cushing's disease cases to control patients for aden...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/cen.13974
更新日期:2019-07-01 00:00:00
abstract:OBJECTIVE:We assessed the relative risk of both serum TSH and antithyroid antibody concentrations with regard to progression of thyroid failure and studied the lipid profiles of individuals with elevated TSH levels. DESIGN, PATIENTS AND MEASUREMENTS:In a randomly selected group of 427 women aged 40-60 (mean 55) years ...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1993.tb02366.x
更新日期:1993-09-01 00:00:00
abstract:OBJECTIVE:The aim of the study was to investigate whether the absence of increased 5 alpha-reductase activity explained the absence of hirsutism in premenopausal obese women with increased free testosterone (FT) levels. DESIGN:As in hyperandrogenicity there generally exists evidence for increased 5 alpha-reductase act...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1992.tb02264.x
更新日期:1992-06-01 00:00:00
abstract::Five patients with Bloom's syndrome aged from 2 8/12 to 27 years, all of whom had hypogonadism, were subjected to an i.v. LHRH test and two of them to an i.m. HCG test. There was increased responsiveness of plasma LH and FSH, indicating that the hypogonadism is primary in nature and of early development. The tubular e...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1977.tb02013.x
更新日期:1977-04-01 00:00:00
abstract:OBJECTIVE:Epidemiological studies on the cardiovascular risk of progestagen-only contraceptives are rare. With the present study we aimed to investigate the effect of the low-dose etonogestrel-releasing contraceptive implant Implanon on cardiovascular risk factors, including markers of inflammation. DESIGN:Longitudina...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.2007.03046.x
更新日期:2008-03-01 00:00:00
abstract::Objective African-Americans have been shown to have low prevalence of hypothyroidism. Brazil has a high ethnic admixture allowing further exploration into whether environmental factors can explain the ethnic differences. Design A survey, representative of the population of Rio de Janeiro, a large metropolitan city in ...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.2007.02816.x
更新日期:2007-06-01 00:00:00
abstract:OBJECTIVE:We examined the contributions of growth hormone (GH) and insulin-like growth factor-I (IGF-I) to insulin sensitivity and beta-cell function in acromegaly. DESIGN:A cross-sectional study was used with continuous infusion of glucose with model assessment to determine insulin sensitivity and beta-cell function....
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1992.tb02902.x
更新日期:1992-01-01 00:00:00
abstract:OBJECTIVE:Disordered water balance causes substantial morbidity in a subset of schizophrenics and is the consequence of unexplained defects in the regulation of fluid intake and antidiuretic function. We aimed to determine whether oropharyngeal regulation of water balance is altered in these patients. DESIGN:A 2-hour ...
journal_title:Clinical endocrinology
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1046/j.1365-2265.1996.641463.x
更新日期:1996-01-01 00:00:00
abstract:BACKGROUND:Postsurgical regrowth or recurrence of nonfunctioning pituitary adenomas (NFAs) is not uncommon and often requires further surgery or radiotherapy (DXT). Routine postoperative DXT increases the incidence of hypopituitarism, which is associated with increased morbidity and mortality. Identification of genetic...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.2004.02046.x
更新日期:2004-07-01 00:00:00
abstract:OBJECTIVE:Serum free cortisol, rather than serum total cortisol (TC), determines glucocorticoid activity in vivo, but how the considerable inter-subject variation in ambient serum free cortisol affects the outcome of dynamic hypothalamic-pituitary-adrenal (HPA) assessment in noncritically ill subjects is unknown. DESI...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.2011.04080.x
更新日期:2011-09-01 00:00:00
abstract::In recent years the techniques of molecular and cellular biology have made it possible to begin to dissect the origins and behaviour of the ACTH-secreting tumour cell. It is becoming apparent that these tumours represent undifferentiated neuroendocrine cells, and it may be that their peptide-secreting properties may h...
journal_title:Clinical endocrinology
pub_type: 杂志文章,评审
doi:10.1111/j.1365-2265.1993.tb01765.x
更新日期:1993-08-01 00:00:00
abstract:BACKGROUND:Proton magnetic resonance spectroscopy ((1) H-MRS) is a sensitive, noninvasive imaging technique capable of measuring brain metabolites in vivo. Chronic exposure to endogenous hypercortisolism in Cushing's syndrome (CS) is associated with negative effects on memory and hippocampal volumes, even after biochem...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/cen.12224
更新日期:2013-11-01 00:00:00
abstract::Seckel syndrome is an autosomal-recessive disorder with a frequency of less than 1/10 000 births in which there are multiple malformations including severe short stature. We report on a patient with Seckel syndrome with a current body height of -7.5 SDS. Laboratory investigations at the age of 19 months revealed high ...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1046/j.1365-2265.2002.01590.x
更新日期:2002-08-01 00:00:00
abstract:OBJECTIVE:To test the hypothesis that patients with hyperprolactinaemia due to biologically inactive macroprolactin will not show the characteristically increased dopaminergic inhibition of TSH release seen in patients with microprolactinomas secreting biologically active monomeric PRL. DESIGN:Comparison of the TSH an...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1046/j.1365-2265.2003.01887.x
更新日期:2003-11-01 00:00:00
abstract::Lactation has been associated with suppression of some components of the neuroendocrine stress response. In humans, suppression of the hypothalamo-pituitary-adrenal (HPA) axis has been demonstrated in response to both a psychological and an exercise challenge, but appears to be limited to a short period of time follow...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.2004.02133.x
更新日期:2004-11-01 00:00:00
abstract:OBJECTIVE:Augmented brown adipose tissue (BAT) mass and activity lead to higher basic metabolic rate which is beneficial against obesity. Our aim was to investigate whether habitual (i.e. usual weekly participation) physical activity is linked with BAT activity and mass in humans, in a group of patients undergoing (18)...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/cen.12620
更新日期:2015-01-01 00:00:00