Abstract:
OBJECTIVE:Mutations in SLC16A2, the gene encoding the thyroid hormone (TH)-specific transporter monocarboxylate transporter 8 (MCT8), result in a thyroid phenotype and severe mental retardation caused by neuronal TH deficiency. These mutational effects raise the question of whether polymorphic variation in SLC16A2 may also be associated with differences in serum levels of TH and/or TSH. DESIGN:This is the first major study of the frequency of the SLC16A2 rs6647476 single nucleotide polymorphism (SNP) (amino acid change Ser107Pro). We also studied the relationships of SLC16A2 genetic variants with serum levels of TSH, T4 and T3, with their mRNA expression and with expression of the TH-responsive genes ZAKI-4 and BTEB in white blood cells. Experiments in cultured fibroblasts were carried out to ascertain the dynamics of the T3 response. METHODS:A total of 276 men were studied. Genotyping of the S107P SNP was carried out using polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP); serum hormone levels were determined by chemiluminescence; expression of mRNA was quantified by real-time PCR. RESULTS:The SLC16A2 S107P SNP was found in 36% of Galician males. With the present sample size we did not find any association of this polymorphism with variability in serum levels of TSH, free T4 (fT4) or fT3, or with basal expression of mRNA for SLC16A2 or the two TH-responsive genes ZAKI-4 and BTEB, either in white blood cells or in cultured human fibroblasts from either Ser107 or Pro107 genotypes under T3 stimulation. CONCLUSIONS:The S107P change in MCT8 is frequent in the male population in Galicia. In the population studied in this report an association with a thyroid phenotype was not demonstrated, even though the S107P SNP causes an important amino acid change.
journal_name
Clin Endocrinol (Oxf)journal_title
Clinical endocrinologyauthors
Lago-Lestón R,Iglesias MJ,San-José E,Areal C,Eiras A,Araújo-Vilar D,Lado-Abeal J,Domínguez-Gerpe Ldoi
10.1111/j.1365-2265.2008.03377.xsubject
Has Abstractpub_date
2009-04-01 00:00:00pages
636-43issue
4eissn
0300-0664issn
1365-2265pii
CEN3377journal_volume
70pub_type
杂志文章abstract:OBJECTIVE:No single histological or molecular marker is diagnostic for malignant phaeochromocytomas and paragangliomas (PPGLs). This study aimed to establish and evaluate a prognostic nomogram to improve the prediction of metastatic probability in individual PPGL patients. METHODS:Three hundred and 47 consecutive PPGL...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/cen.13357
更新日期:2017-08-01 00:00:00
abstract::In order to investigate the mechanism of GIP secretion and the role of endogenous GIP in the enteroinsular axis in duodenal ulcer patients, we have compared plasma GIP, insulin, and blood glucose responses to oral glucose ingestion in 10 duodenal ulcer patients, 5 patients with total gastrectomy, and 20 normal subject...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1983.tb00008.x
更新日期:1983-09-01 00:00:00
abstract:INTRODUCTION:The rates of sensitivity and specificity of fine needle aspiration biopsy (FNAB) for the diagnosis of thyroid malignancy differ considerably among various reported series. These values are influenced by three factors: (a) whether only clearly positive and negative results are considered, or whether the com...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1046/j.1365-2265.1999.00847.x
更新日期:1999-10-01 00:00:00
abstract:OBJECTIVE:To analyse the clinical and biochemical effects of metyrapone in the treatment of Cushing's syndrome. DESIGN:An evaluation of the standard clinical practice at one institution. PATIENTS:Ninety-one patients with Cushing's syndrome: 57 pituitary-dependent Cushing's disease, 10 adrenocortical adenomas, six adr...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1991.tb03517.x
更新日期:1991-08-01 00:00:00
abstract:OBJECTIVE:Women with impaired glucose tolerance (IGT) and type 2 diabetes (T2D) are more at risk of cardiovascular disease. The aim of this study was to test the hypothesis that increased visceral adipose tissue (VAT) could explain to a large extent alterations in the cardiovascular disease risk profile of postmenopaus...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.2010.03933.x
更新日期:2011-03-01 00:00:00
abstract:BACKGROUND:Mutations in CYP21A2 lead to deficiency of 21-hydroxylase and can have either severe or moderate effects on phenotype, which can be prevented by early treatment. We studied long-term effects of this deficiency on phenotype in patients who had not been treated for prolonged periods and correlated these phenot...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.2009.03550.x
更新日期:2009-11-01 00:00:00
abstract::100 mg i.m. sulpiride (a dopamine-receptor-blocking drug) led to a significant rise in plasma TSH in normal womem, in female patients with galactorrhoea, and, to a much more marked degree, in male and female patients with primary hypothyroidism. In the hypothyroid patients, there was a significant positive correlation...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1978.tb03582.x
更新日期:1978-11-01 00:00:00
abstract::We describe here two patients with hypothyroidism due to pituitary-hypothalamic disease in whom basal thyrotrophin (TSH) levels measured by radioimmunoassay (RIA) were elevated yet when measured by a cytochemical bioassay (CBA) were found to be normal. This finding and the absence of the normal rise of thyroid hormone...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1978.tb02174.x
更新日期:1978-05-01 00:00:00
abstract:OBJECTIVE:The LMNA 1908C/T polymorphism has been reported to be associated with dyslipidaemia, metabolic syndrome, adipose tissue metabolism and obesity phenotypes, suggesting that this polymorphism presents an increased risk of atherosclerosis and vascular diseases. However, there have been no previous reports on the ...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.2005.02344.x
更新日期:2005-09-01 00:00:00
abstract:OBJECTIVE:We assessed body composition, bone mineral density (BMD), glucose and lipids in Williams syndrome (WS), a rare microdeletion disorder. DESIGN:Individuals with WS had outpatient assessment at Massachusetts General Hospital. Controls were selected from the National Health and Nutrition Examination Survey (NHAN...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/cen.13829
更新日期:2018-11-01 00:00:00
abstract:OBJECTIVE:The intravenous low-dose ACTH test has been proposed as a sensitive tool to assess adrenal function through circulating steroids. The aims of this study were to: (a) find the minimal intramuscular ACTH dose that induced serum and salivary cortisol and aldosterone responses equivalent to those obtained after a...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.2004.02144.x
更新日期:2004-12-01 00:00:00
abstract::Plasma concentrations of FSH, LH, testosterone and prolactin have been studied in seventeen men, aged 19 to 38 years, with traumatic paraplegia. Plasma testosterone, FSH and LH values were normal in all patients. The median LH concentration in patients was significantly higher (P less than 0.05) than in controls but t...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1982.tb01594.x
更新日期:1982-09-01 00:00:00
abstract:BACKGROUND:Previous studies report impaired health-related quality of life (HRQoL) in patients with functional pituitary adenomas (FPA). We assessed HRQoL in FPA patients having undergone surgery at our University Central Hospital between 2000 and 2010, with combined adjuvant treatment given to achieve strict hormonal ...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/cen.12550
更新日期:2015-03-01 00:00:00
abstract:OBJECTIVE:Congenital adrenal hyperplasia (CAH) is an autosomal recessive inherited disorder resulting in lack of cortisol and often aldosterone and overproduction of androgens. Raised levels of androgens can lead to increased mass in the laryngeal tissues, which may lower the fundamental frequency (F0) of the voice. D...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.2008.03347.x
更新日期:2009-01-01 00:00:00
abstract:CONTEXT:The inconclusive evidence regarding long-term safety of recombinant human growth hormone (rhGH) therapy underlines the need for long-term large-scale cohorts. OBJECTIVE:To assess long-term mortality and cancer incidence among patients treated with rhGH during childhood in Israel. DESIGN:A population-based coh...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/cen.13131
更新日期:2016-11-01 00:00:00
abstract:OBJECTIVE:Glucocorticoid excess is commonly related to neuropsychiatric and neurological disorders, with memory impairment typically found among these disorders. The objective of this study is to offer a clinical profile of memory deficits resulting from exposure to chronic stress-level elevations of endogenous glucoco...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.2008.03355.x
更新日期:2009-02-01 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:OBJECTIVE:Fractures are related to falling. Turner syndrome (TS) is associated with hypogonadism, osteoporosis and fractures and has been considered as a syndrome of early ageing. The aim was to study whether fine motor function (FM) and body balance (BB) were impaired and related to genotype, fractures, metabolic vari...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.2008.03473.x
更新日期:2009-08-01 00:00:00
abstract:OBJECTIVES:Associations between calcium-sensing receptor (CaSR) polymorphisms and serum calcium, PTH and bone mineral density (BMD) have been reported by six studies. However, three other studies have failed to detect such associations. We therefore further investigated three CaSR coding region polymorphisms (Ala986Ser...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.2006.02634.x
更新日期:2006-11-01 00:00:00
abstract:OBJECTIVE:A relationship between the serotoninergic and the opiatergic system in the pathogenesis of head pain is supported by several data. This study was carried out to investigate the neuroendocrine effects of sumatriptan, a specific serotonin agonist used in the treatment of migraine, on hypothalamic-pituitary-adre...
journal_title:Clinical endocrinology
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1111/j.1365-2265.1994.tb02470.x
更新日期:1994-02-01 00:00:00
abstract::Six healthy subjects were infused with angiotensin II and plasma concentrations of angiotensin, ACTH and cortisol were measured before, during and after the infusion. In all cases the plasma ACTH concentration fell as plasma angiotensin increased and rose again, sometimes to higher than basal levels, when the angioten...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1979.tb01359.x
更新日期:1979-02-01 00:00:00
abstract:OBJECTIVE:IGF-I has important actions on cell division, apoptosis, differentiation and metabolism, as well as on cell proliferation in vascular smooth muscle. Deficiency of GH, an important regulator of IGF-I, is associated with reduced well-being. IGF-I levels have been related to cognitive function in older individua...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1046/j.1365-2265.2002.01671.x
更新日期:2002-12-01 00:00:00
abstract:BACKGROUND AND OBJECTIVE:In polycystic ovary syndrome (PCOS) inappropriate gonadotrophin secretion is characterized by increased pulse frequency and amplitude, elevated 24-h mean serum concentrations, and greater responses to GnRH. While the mechanism(s) responsible for this increased release of LH are not well underst...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.2004.01945.x
更新日期:2004-01-01 00:00:00
abstract::Using a sensitive enzyme amplified immunoassay for TSH, the evening rise and pulsatile release of TSH were studied in 10 men with chronic renal failure treated by haemodialysis. Compared to euthyroid male controls the evening rise of TSH was attenuated (median 0.066 vs 0.195 mU/l/h, P less than 0.01) and the rate of r...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1989.tb00452.x
更新日期:1989-07-01 00:00:00
abstract:CONTEXT:In recent years, an association has been noted between several abnormalities that characterize the metabolic syndrome (MetS) and primary hyperparathyroidism (pHPT). These abnormalities include dyslipidaemia, obesity, insulin resistance and hypertension. The correlations between plasma calcium, parathyroid hormo...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.2009.03558.x
更新日期:2009-11-01 00:00:00
abstract::Hyperthyroidism is a well recognized complication of gestational trophoblastic tumours (GTT) and may be due to high circulating concentrations of human chorionic gonadotrophin (hCG) or its variants. We have studied 24 clinically euthyroid women with GTT. Eight were biochemically hyperthyroid with low or undetectable s...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1990.tb00487.x
更新日期:1990-08-01 00:00:00
abstract::The effects of thyroid hormones and antithyroid treatment upon lumbar spine bone mineral content (lumbar BMC) were studied in a consecutive series of patients with myxoedema and thyrotoxicosis, respectively. All patients were investigated in the untreated state and 3-monthly during appropriate treatment for 1 year by ...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1983.tb02873.x
更新日期:1983-05-01 00:00:00
abstract:OBJECTIVE:To study circulating adiponectin concentrations in relation to diabetes duration and endogenous insulin secretion in patients with type 1 diabetes. PATIENTS:Patients with haemoglobin A1c (HbA1c) < 6% (reference range 3.6-5.4%) were selected for the study. Twenty-two men and 24 women [age 41.3 +/- 13.8 years ...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.2006.02666.x
更新日期:2006-12-01 00:00:00
abstract:BACKGROUND:Whether subclinical hypothyroidism adversely impacts pregnancy outcomes is inconclusive, and limited data are available on the optimal TSH range in women planning pregnancy. OBJECTIVE:To investigate the association between maternal preconception TSH levels and pregnancy outcomes. DESIGN:Population-based co...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/cen.13329
更新日期:2017-06-01 00:00:00
abstract:BACKGROUND:Recent evidence has shown that oxidative stress may play a role in the pathogenesis of autoimmune diseases, and this is an issue of considerable research interest in the field of infiltrative ophthalmopathy. Therefore, we evaluated both the relationship between Graves' ophthalmopathy (GO) and serum levels of...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.2010.03904.x
更新日期:2011-01-01 00:00:00