Abstract:
OBJECTIVE:Resistance to thyroid hormone (RTH) is a dominantly inherited syndrome of reduced tissue responsiveness to thyroid hormone usually due to mutations located in the ligand-binding domain and adjacent hinge region of the thyroid hormone receptor beta (TRbeta). In the present report we describe the clinical and laboratory characteristics and the genetic analysis of patients with this rare disorder from a Brazilian population. PATIENTS:Four unrelated Brazilian families with diagnosis of RTH were studied. Age at diagnosis varied from 14 months to 29 years. RESULTS:All affected individuals were clinically euthyroid, except for one patient who presented immediately after birth with hyperthyroidism. All individuals had tachycardia and goitre, elevated concentrations of free thyroid hormones and reduced sensitivity to thyroid hormone. Direct sequencing analysis of the TRbeta gene revealed four previously reported mutations: c.949G-->A, c.1313G-->A, c.1357C-->A and c.1358dupC in families A, B, C and D, respectively. CONCLUSION:The present report shows that the frequent mutations described in the thyroid hormone receptor worldwide are also present in the Brazilian population, which is characterized by a variable ethnic background.
journal_name
Clin Endocrinol (Oxf)journal_title
Clinical endocrinologyauthors
Magalhães PK,Rodrigues Dare GL,Rodrigues Dos Santos S,Nogueira CR,de Castro M,Zanini Maciel LMdoi
10.1111/j.1365-2265.2007.02956.xsubject
Has Abstractpub_date
2007-11-01 00:00:00pages
748-53issue
5eissn
0300-0664issn
1365-2265pii
CEN2956journal_volume
67pub_type
杂志文章abstract:OBJECTIVE:The study was designed to examine the effect of percutaneous coronary intervention (PCI) on adiponectin and leptin levels. We have previously demonstrated that PCI triggers a systemic inflammatory response. We hypothesized that inflammation participates in the pathogenesis of diabetes mellitus and the metabol...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.2006.02654.x
更新日期:2006-12-01 00:00:00
abstract:CONTEXT:In men, obesity and the metabolic syndrome are accompanied by decreased testosterone levels, but little is known about the associations between visceral adipose tissue (VAT), VAT-related inflammation and sex steroids. OBJECTIVE:To examine the relative impact of VAT, abdominal subcutaneous adipose tissue (SAT) ...
journal_title:Clinical endocrinology
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doi:10.1111/j.1365-2265.2012.04401.x
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abstract::Sleep history and pituitary function were studied and sleep polygraphy performed in 11 acromegalic patients before and after pituitary surgery. Excessive daytime sleepiness or habitual snoring or both together, as well as an elevated fasting level of serum GH occurred in all the patients. In five men but in none of th...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1987.tb02947.x
更新日期:1987-12-01 00:00:00
abstract:OBJECTIVE:The menopausal transition is characterized by increased body fat accumulation, including redistribution from peripheral to central fat depots. This distribution is associated with an increased risk of type 2 diabetes and cardiovascular disease that are linked to low-grade inflammation. We determined whether p...
journal_title:Clinical endocrinology
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doi:10.1111/j.1365-2265.2011.04322.x
更新日期:2012-11-01 00:00:00
abstract:OBJECTIVE:To provide evidence of efficacy and safety for use of lutropin alfa in inducing follicular development and pregnancy in hypogonadotrophic hypogonadal women with profound gonadotrophin deficiency. DESIGN:An open-label, noncomparative extension of a randomized, double-blind, placebo-controlled study PATIENTS:...
journal_title:Clinical endocrinology
pub_type: 杂志文章,多中心研究,随机对照试验
doi:10.1111/j.1365-2265.2007.02925.x
更新日期:2007-10-01 00:00:00
abstract:OBJECTIVES:The recent American Thyroid Association management guidelines suggest cervical ultrasonography (US) surveillance in patients with differentiated thyroid cancer (DTC). This study was conducted to identify predictive factors that can determine whether subsequent fine needle aspiration guided by ultrasound (US-...
journal_title:Clinical endocrinology
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doi:10.1111/j.1365-2265.2010.03915.x
更新日期:2011-02-01 00:00:00
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journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1983.tb00737.x
更新日期:1983-07-01 00:00:00
abstract::The role of endogenous opiate peptides in puerperal hyperprolactinaemia, and in the control of TSH in hypothyroidism, has been investigated. Although exogenous opioids raise prolactin and TSH levels, 16 mg naloxone administered to women on days 2-4 of the puerperium produced no significant change in serum prolactin an...
journal_title:Clinical endocrinology
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1111/j.1365-2265.1982.tb00722.x
更新日期:1982-03-01 00:00:00
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journal_title:Clinical endocrinology
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doi:10.1046/j.1365-2265.2002.01605.x
更新日期:2002-12-01 00:00:00
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journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1046/j.1365-2265.2001.01245.x
更新日期:2001-04-01 00:00:00
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journal_title:Clinical endocrinology
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doi:10.1111/j.1365-2265.1994.tb02580.x
更新日期:1994-10-01 00:00:00
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journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1993.tb01008.x
更新日期:1993-03-01 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
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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
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journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1990.tb03912.x
更新日期:1990-12-01 00:00:00
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journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1992.tb00955.x
更新日期:1992-02-01 00:00:00
abstract::Transdermal oestradiol, 100 micrograms/d, was used to treat 11 women suffering from postmenopausal symptoms. After 3 weeks therapy there was a significant rise in the plasma oestradiol into the premenopausal range and a significant fall in plasma FSH level and symptom score. Bone resorption, assessed by urinary excret...
journal_title:Clinical endocrinology
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doi:10.1111/j.1365-2265.1986.tb03607.x
更新日期:1986-11-01 00:00:00
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journal_title:Clinical endocrinology
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1111/j.1365-2265.1993.tb00991.x
更新日期:1993-02-01 00:00:00
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更新日期:2013-09-01 00:00:00
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更新日期:2000-07-01 00:00:00
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journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/cen.13593
更新日期:2018-06-01 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
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doi:10.1111/cen.12026
更新日期:2013-02-01 00:00:00
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doi:10.1111/cen.14358
更新日期:2021-02-01 00:00:00
abstract::Plasma cortisol and adrenocorticotrophin hormone (ACTH) profiles were estimated in twelve patients with Addison's disease following randomized oral administration of either cortisone acetate (25 mg) or hydrocortisone (20 mg) alternately, at 0900 h on consecutive days. Normal corticosteroid replacement therapy was disc...
journal_title:Clinical endocrinology
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1111/j.1365-2265.1981.tb00634.x
更新日期:1981-05-01 00:00:00
abstract::The possible relationship between plasma androgenic activity and acne vulgaris was investigated. Plasma testosterone and sex hormone binding globulin (SHBG) levels were determined in healthy girls during different stages of puberty, in healthy adult women and in women with acne vulgaris. Testosterone increase during p...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1982.tb00713.x
更新日期:1982-03-01 00:00:00
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journal_title:Clinical endocrinology
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1111/j.1365-2265.1991.tb00933.x
更新日期:1991-12-01 00:00:00
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journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1046/j.1365-2265.2003.01829.x
更新日期:2003-08-01 00:00:00
abstract::Bilateral, selective and simultaneous catheterization of the inferior petrosal sinus with measurements of ACTH after stimulation with ovine corticotrophin-releasing factor (CRF) is now frequently used to establish the differential diagnosis in patients with Cushing's disease and to determine the side of the microadeno...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1988.tb01215.x
更新日期:1988-03-01 00:00:00
abstract:CONTEXT & OBJECTIVE:A recent paper by our group reported that regular aerobic exercise during pregnancy led to lower foetal IGF-I and IGF-II concentrations and a modest reduction in offspring birth weight when compared with the offspring of nontraining control participants. Maternal hormonal alterations in response to ...
journal_title:Clinical endocrinology
pub_type: 杂志文章,随机对照试验
doi:10.1111/j.1365-2265.2010.03964.x
更新日期:2011-04-01 00:00:00