当前位置： SCI文献检索 > EUROPEAN JOURNAL OF ENDOCRINOLOGY期刊下所有文献 > Retarded bone growth in thyroid hormone resistance. A clinical study of a large family with a novel thyroid hormone receptor mutation.

Retarded bone growth in thyroid hormone resistance. A clinical study of a large family with a novel thyroid hormone receptor mutation.

Abstract：

OBJECTIVE:Thyroid hormone resistance (RTH) is characterised by variable tissue hyporesponsiveness to thyroid hormone. The disorder is usually caused by mutations in the thyroid hormone receptor beta (TR beta). We describe a large family with this disorder. SUBJECTS AND MEASUREMENT: We identified 36 family members with RTH in four generations by screening relatives of patients with the diagnosis. The diagnosis was verified by identification of a mutation in the thyroid hormone receptor beta (TR beta) gene. Symptoms, clinical findings and laboratory tests of 29 affected individuals were compared with those of 16 first-degree relatives. RESULTS:Bone maturation in children with RTH was delayed. The height was lower both in children and in adults with RTH than in the controls. Children with RTH had lower birth weight than the controls, particularly when the condition was inherited from the father. We did not observe increased prevalence of neuropsychological symptoms associated with RTH in this family. Palpitations and increased pulse rate indicated mild cardiac hyperthyroidism. Direct sequence analysis of the TR beta gene revealed a novel point mutation, a heterozygous transition c.1031G>C in exon 9 theoretically substituting Gly344Ala. CONCLUSIONS:We found evidence of skeletal tissue hypothyroidism that resulted in permanent growth retardation from prenatal to adult life. We found substantial variations in thyroid hormone levels and clinical presentation, but most individuals were without symptoms of thyroid disorder.

journal_name

Eur J Endocrinol

journal_title

European journal of endocrinology

authors

Kvistad PH,Løvås K,Boman H,Myking OL

doi

10.1530/eje.0.1500425

subject

Has Abstract

pub_date

2004-04-01 00:00:00

pages

425-30

issue

4

eissn

0804-4643

issn

1479-683X

journal_volume

150

pub_type

杂志文章

相关文献

EUROPEAN JOURNAL OF ENDOCRINOLOGY文献大全
  • Relationship between serum adiponectin concentration, pulse wave velocity and nonalcoholic fatty liver disease.

    abstract：OBJECTIVES:We aimed to investigate the relationship between nonalcoholic fatty liver disease (NAFLD), serum adiponectin concentration and brachial-ankle pulse wave velocity (baPWV) as a risk marker for atherosclerosis. METHODS:A total of 213 nonalcoholic subjects (67 males, 146 females) participated in this study. Div...

    journal_title：European journal of endocrinology

    pub_type： 杂志文章

    doi：10.1530/eje.1.01842

    authors： Kim SG,Kim HY,Seo JA,Lee KW,Oh JH,Kim NH,Choi KM,Baik SH,Choi DS

    更新日期：2005-02-01 00:00:00

  • GH therapy in adult GH deficiency: a review of treatment schedules and the evidence for low starting doses.

    abstract：:Recombinant human GH has been licensed for use in adult patients with GH deficiency (GHD) for over 15 years. Early weight- and surface area-based dosing regimens were effective but resulted in supraphysiological levels of IGF1 and increased incidence of side effects. Current practice has moved towards individualised r...

    journal_title：European journal of endocrinology

    pub_type： 杂志文章,评审

    doi：10.1530/EJE-12-0563

    authors： Gasco V,Prodam F,Grottoli S,Marzullo P,Longobardi S,Ghigo E,Aimaretti G

    更新日期：2013-02-20 00:00:00

  • MRI T2 signal intensity and tumor response in patients with GH-secreting pituitary macroadenoma: PRIMARYS post-hoc analysis.

    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

    authors： Bonneville F,Rivière LD,Petersenn S,Bevan J,Houchard A,Sert C,Caron PJ,PRIMARYS Study group.

    更新日期：2018-12-01 00:00:00

  • Endocrinology and Adolescence: aerobic exercise reduces insulin resistance markers in obese youth: a meta-analysis of randomized controlled trials.

    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

    authors： García-Hermoso A,Saavedra JM,Escalante Y,Sánchez-López M,Martínez-Vizcaíno V

    更新日期：2014-10-01 00:00:00

  • Diabetes in acromegaly, prevalence, risk factors, and evolution: data from the French Acromegaly Registry.

    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

    authors： Fieffe S,Morange I,Petrossians P,Chanson P,Rohmer V,Cortet C,Borson-Chazot F,Brue T,Delemer B,French Acromegaly Registry.

    更新日期：2011-06-01 00:00:00

  • Thyroid nodules: a review of current guidelines, practices, and prospects.

    abstract：:In 2006, two major society-sponsored guidelines and one major consensus statement for thyroid diagnosis and management were published by: the American Association of Clinical Endocrinologists/Associazione Medici Endocrinologi (AACE/AME); the American Thyroid Association (ATA); and the European Thyroid Association (ETA...

    journal_title：European journal of endocrinology

    pub_type： 杂志文章,评审

    doi：10.1530/EJE-08-0135

    authors： Gharib H,Papini E,Paschke R

    更新日期：2008-11-01 00:00:00

  • Genetic influence of an ACTH receptor promoter polymorphism on adrenal androgen secretion.

    abstract：OBJECTIVE:Adrenocorticotropic hormone (ACTH) is the primary secretagogue stimulating secretion of adrenal androgens (AA). Yet, genetic and environmental factors are assumed to play a determining role in the regulation of their biosynthesis and thus might explain the high variability of AA levels. Here we investigate th...

    journal_title：European journal of endocrinology

    pub_type： 杂志文章

    doi：10.1530/eje.1.02015

    authors： Reisch N,Slawik M,Zwermann O,Beuschlein F,Reincke M

    更新日期：2005-11-01 00:00:00

  • Elevated levels of the steroidogenic factor 1 are associated with over-expression of CYP19 in an oestrogen-producing testicular Leydig cell tumour.

    abstract：BACKGROUND AND OBJECTIVES:Testicular Leydig cell tumours (LCTs) are rare, steroid-secreting tumours. Elevated levels of aromatase (CYP19 or CYP19A1) mRNA have been previously described in LCTs; however, little is known about the mechanism(s) causing CYP19 over-expression. We report an LCT in a 29-year-old male with ele...

    journal_title：European journal of endocrinology

    pub_type： 杂志文章

    doi：10.1530/EJE-11-0849

    authors： Straume AH,Løvås K,Miletic H,Gravdal K,Lønning PE,Knappskog S

    更新日期：2012-05-01 00:00:00

  • Partial visual recovery from radiation-induced optic neuropathy after hyperbaric oxygen therapy in a patient with Cushing disease.

    abstract：:Here we describe the case of a 41-year-old woman with a history of Cushing disease who had previously undergone unsuccessful neurosurgery, followed by stereotactic radiosurgery. More than 4 years after this treatment, she presented severe visual impairment, which started in the left eye and was documented by neuro-oph...

    journal_title：European journal of endocrinology

    pub_type： 杂志文章

    doi：10.1530/eje.1.02161

    authors： Boschetti M,De Lucchi M,Giusti M,Spena C,Corallo G,Goglia U,Ceresola E,Resmini E,Vera L,Minuto F,Ferone D

    更新日期：2006-06-01 00:00:00

  • Pharmacokinetics and tolerability of a bioadhesive buccal testosterone tablet in hypogonadal men.

    abstract：OBJECTIVE:A phase I single centre, open label study of the pharmacokinetics and tolerability of a buccal testosterone tablet (COL 1621) was carried out. DESIGN:Twelve testosterone-deficient males were treated with the buccal tablet twice daily for 7 consecutive days. Multiple blood samples were drawn for testosterone,...

    journal_title：European journal of endocrinology

    pub_type： 临床试验,杂志文章

    doi：10.1530/eje.0.1500057

    authors： Ross RJ,Jabbar A,Jones TH,Roberts B,Dunkley K,Hall J,Long A,Levine H,Cullen DR

    更新日期：2004-01-01 00:00:00

  • Relationship of serum fibroblast growth factor 23 with cardiovascular disease in older community-dwelling women.

    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

    authors： Dalal M,Sun K,Cappola AR,Ferrucci L,Crasto C,Fried LP,Semba RD

    更新日期：2011-11-01 00:00:00

  • Circulating IGF-I levels in monitoring and predicting efficacy during long-term GH treatment of GH-deficient adults.

    abstract：OBJECTIVE:To investigate the effects of long-term GH in GH-deficient adults, as predicted by IGF-I levels. METHODS:Patients received GH, 5 microg/kg per day for 1 Month and 10 microg/kg per day for another 12-30 Months. Changes in body composition, cardiac structure/function, serum lipids and quality of life were meas...

    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.0.1490499

    authors： Ezzat S,Fear S,Gaillard RC,Gayle C,Marcovitz S,Mattioni T,Nussey S,Rees A,Svanberg E

    更新日期：2003-12-01 00:00:00

  • Decrease in vitamin D receptor and calcium-sensing receptor in highly proliferative parathyroid adenomas.

    abstract：OBJECTIVE:A significant decrease in vitamin D receptor (VDR) and calcium-sensing receptor (CaSR) protein expression has been demonstrated recently in parathyroid (PT) adenomas. In this study, we investigated the relationships between the proliferative activity of parathyroid glands (PTGs) and the expression of VDR as w...

    journal_title：European journal of endocrinology

    pub_type： 杂志文章

    doi：10.1530/eje.0.1480403

    authors： Yano S,Sugimoto T,Tsukamoto T,Chihara K,Kobayashi A,Kitazawa S,Maeda S,Kitazawa R

    更新日期：2003-04-01 00:00:00

  • Health-related quality of life, anxiety and depression in thyroid cancer patients under short-term hypothyroidism and TSH-suppressive levothyroxine treatment.

    abstract：OBJECTIVE:Very few previous studies have compared the degree of health-related quality of life (HRQL), depression and anxiety of differentiated thyroid cancer patients (DTC) under short-term hypothyroid-ism and levothyroxine treatment. METHODS:Using patient-completed instruments, we examined the frequency of physical ...

    journal_title：European journal of endocrinology

    pub_type： 杂志文章

    doi：10.1530/eje.1.02047

    authors： Tagay S,Herpertz S,Langkafel M,Erim Y,Freudenberg L,Schöpper N,Bockisch A,Senf W,Görges R

    更新日期：2005-12-01 00:00:00

  • Bone mineral density in middle-aged women with Turner's syndrome.

    abstract：:Bone mineral density (BMD), bone mineral content and body composition were determined in 47 middle-aged (mean age 47.9 +/- 1.1 years) women with Turner's syndrome. Bone mineral density was measured in the forearm, femoral neck and total body. The women investigated had a BMD lower than the normal mean. When expressed ...

    journal_title：European journal of endocrinology

    pub_type： 杂志文章

    doi：10.1530/eje.0.1320047

    authors： Sylvén L,Hagenfeldt K,Ringertz H

    更新日期：1995-01-01 00:00:00

  • A novel HESX1 splice mutation causes isolated GH deficiency by interfering with mRNA processing.

    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

    authors： Vivenza D,Godi M,Faienza MF,Mellone S,Moia S,Rapa A,Petri A,Bellone S,Riccomagno S,Cavallo L,Giordano M,Bona G

    更新日期：2011-05-01 00:00:00

  • Treatment of growth delay in boys with isolated growth hormone deficiency.

    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

    authors： Albanese A,Stanhope R

    更新日期：1994-01-01 00:00:00

  • Fracture rate, pre- and postmenopausal bone mass and early and late postmenopausal bone loss are not associated with vitamin D receptor genotype in a high-endemic area of osteoporosis.

    abstract：:To investigate a possible association between vitamin D receptor genotype and development of postmenopausal osteoporosis, a longitudinal study from 1977 to 1995 was carried out on women living in Oslo, Norway. One hundred and eighteen premenopausal women born in 1930 were included in a study of pre- and postmenopausal...

    journal_title：European journal of endocrinology

    pub_type： 杂志文章

    doi：10.1530/eje.0.1350096

    authors： Berg JP,Falch JA,Haug E

    更新日期：1996-07-01 00:00:00

  • Role of sequence variations of the GnRH receptor and G protein-coupled receptor 54 gene in male idiopathic hypogonadotropic hypogonadism.

    abstract：OBJECTIVE:To determine the frequency of mutations of the gonadotropin-releasing hormone receptor (GnRHR) and of the G protein-coupled receptor 54 (GPR54) genes in normosmic idiopathic hypogonadotropic hypogonadism (IHH). METHODS:In a retrospective study we analyzed the GnRHR and the GPR54 genes of 45 IHH patients and ...

    journal_title：European journal of endocrinology

    pub_type： 杂志文章

    doi：10.1530/eje.1.02031

    authors： Lanfranco F,Gromoll J,von Eckardstein S,Herding EM,Nieschlag E,Simoni M

    更新日期：2005-12-01 00:00:00

  • Mutational analysis of the autoimmune regulator (AIRE) gene in sporadic autoimmune Addison's disease can reveal patients with unidentified autoimmune polyendocrine syndrome type I.

    abstract：OBJECTIVE:To investigate whether patients with Addison's disease and polyendocrine syndromes have undiagnosed autoimmune polyendocrine syndrome type I (APS I). MATERIALS AND METHODS:Forty patients with clinical manifestations resembling APS I and with autoantibodies typical of this condition were screened for Norwegia...

    journal_title：European journal of endocrinology

    pub_type： 杂志文章

    doi：10.1530/eje.0.1460519

    authors： Bøe AS,Knappskog PM,Myhre AG,Sørheim JI,Husebye ES

    更新日期：2002-04-01 00:00:00

  • Compromised cortical bone compartment in type 2 diabetes mellitus patients with microvascular disease.

    abstract：OBJECTIVE AND DESIGN:Patients with type 2 diabetes mellitus (T2D) have an increased fracture risk despite a normal or elevated bone mineral density (BMD). The aim of this cross-sectional in vivo study was to assess parameters of peripheral bone microarchitecture, estimated bone strength and bone remodeling in T2D patie...

    journal_title：European journal of endocrinology

    pub_type： 杂志文章

    doi：10.1530/EJE-15-0860

    authors： Shanbhogue VV,Hansen S,Frost M,Jørgensen NR,Hermann AP,Henriksen JE,Brixen K

    更新日期：2016-02-01 00:00:00

  • Pancreatic alpha-cell mass across adult human lifespan.

    abstract：Aim:To establish pancreatic alpha-cell mass in lean, non-diabetic humans over the adult lifespan, performed as a follow-up study to beta-cell mass across the adult human lifespan. Methods:We examined human pancreatic autopsy tissue from 66 lean, non-diabetic individuals aged from 30 to 102 years, grouped into deciles:...

    journal_title：European journal of endocrinology

    pub_type： 杂志文章

    doi：10.1530/EJE-19-0844

    authors： Moin ASM,Cory M,Gurlo T,Saisho Y,Rizza RA,Butler PC,Butler AE

    更新日期：2020-02-01 00:00:00

  • Acute effects of hydrocortisone on the metabolic response to a glucose load: increase in the first-phase insulin secretion.

    abstract：BACKGROUND AND AIM:Several basic science studies support the existence of non-genomic glucocorticoid signaling in pancreas, liver, and adipocytes, but its clinical relevance has not yet been elucidated. This study aimed at investigating the rapid effects of hydrocortisone on the human metabolic response to glucose. SU...

    journal_title：European journal of endocrinology

    pub_type： 杂志文章,随机对照试验

    doi：10.1530/EJE-10-0282

    authors： Vila G,Krebs M,Riedl M,Baumgartner-Parzer SM,Clodi M,Maier C,Pacini G,Luger A

    更新日期：2010-08-01 00:00:00

  • Hyperprolactinaemia is associated with a higher prevalence of pituitary-adrenal dysfunction in non-functioning pituitary macroadenoma.

    abstract：:In non-functioning pituitary macroadenoma (NFMA), hyperprolactinaemia (hyperPRL) is considered to be a sign of hypothalamic-pituitary dysregulation, but it is unknown whether hyperPRL is associated with an increased frequency of pituitary hormone deficiencies. Forty consecutive patients with histology-proven NFMA were...

    journal_title：European journal of endocrinology

    pub_type： 杂志文章

    doi：10.1530/eje.0.1350299

    authors： Tjeerdsma G,Sluiter WJ,Hew JM,Molenaar WM,de Lange WE,Dullaart RP

    更新日期：1996-09-01 00:00:00

  • Hypothalamic involvement predicts cardiovascular risk in adults with childhood onset craniopharyngioma on long-term GH therapy.

    abstract：CONTEXT:Craniopharyngioma patients without GH therapy are at an increased cardiovascular disease (CVD) risk and particularly concerning women. No previous study on long-term GH therapy in adults with childhood onset (CO) craniopharyngioma was identified. OBJECTIVE:To investigate CVD risk in adults with CO craniopharyn...

    journal_title：European journal of endocrinology

    pub_type： 杂志文章

    doi：10.1530/EJE-09-0449

    authors： Holmer H,Ekman B,Björk J,Nordstöm CH,Popovic V,Siversson A,Erfurth EM

    更新日期：2009-11-01 00:00:00

  • Postprandial levels of GLP-1, GIP and glucagon after 2 years of weight loss with a Paleolithic diet: a randomised controlled trial in healthy obese women.

    abstract：:Objective To investigate how weight loss by different diets impacts postprandial levels of glucagon-like peptide 1 (GLP-1), glucose-dependent insulinotropic polypeptide (GIP) and glucagon. Methods In this single-centre, parallel group 2-year trial, 70 healthy postmenopausal obese women were randomised to the Paleolith...

    journal_title：European journal of endocrinology

    pub_type： 杂志文章,随机对照试验

    doi：10.1530/EJE-19-0082

    authors： Otten J,Ryberg M,Mellberg C,Andersson T,Chorell E,Lindahl B,Larsson C,Holst JJ,Olsson T

    更新日期：2019-06-01 00:00:00

  • Tumor necrosis factor-alpha decreases thyrotropin-induced 5'-deiodinase activity in FRTL-5 thyroid cells.

    abstract：:Tumor necrosis factor-alpha (TNF-alpha) exerts various effects on many cell types. Acute administration of TNF-alpha to rats decrease hepatic 5'-deiodinase activity (5'D-I) and TNF-alpha has been implicated in the pathogenesis of the low triiodothyronine syndrome in non-thyroidal illness in humans. The thyroid, liver ...

    journal_title：European journal of endocrinology

    pub_type： 杂志文章

    doi：10.1530/eje.0.1300502

    authors： Ongphiphadhanakul B,Fang SL,Tang KT,Patwardhan NA,Braverman LE

    更新日期：1994-05-01 00:00:00

  • A novel OTX2 mutation in a patient with combined pituitary hormone deficiency, pituitary malformation, and an underdeveloped left optic nerve.

    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 scre...

    journal_title：European journal of endocrinology

    pub_type： 杂志文章,多中心研究

    doi：10.1530/EJE-12-0333

    authors： Gorbenko Del Blanco D,Romero CJ,Diaczok D,de Graaff LC,Radovick S,Hokken-Koelega AC

    更新日期：2012-09-01 00:00:00

  • Recommended evaluation of adrenal incidentalomas is costly, has high false-positive rates and confers a risk of fatal cancer that is similar to the risk of the adrenal lesion becoming malignant; time for a rethink?

    abstract：OBJECTIVE:To assess the performance of current clinical recommendations for the evaluation of an adrenal incidentaloma. DESIGN AND METHODS LITERATURE REVIEW: Electronic databases (Pubmed, Ovid and citation searches from key articles) from 1980 to 2008 were searched. Eligible studies were those deemed most applicable to...

    journal_title：European journal of endocrinology

    pub_type： 杂志文章

    doi：10.1530/EJE-09-0234

    authors： Cawood TJ,Hunt PJ,O'Shea D,Cole D,Soule S

    更新日期：2009-10-01 00:00:00

  • Preoperative diagnosis of insulinoma: low body mass index, young age, and female gender are associated with negative imaging by endoscopic ultrasound.

    abstract：OBJECTIVE:Endoscopic ultrasound (EUS) is a highly reliable procedure to localize insulinomas preoperatively. It has been considered to be important in planning surgical strategy, especially considering a minimal invasive approach. However, even under ideal conditions experienced examiners miss about 10-20% of insulinom...

    journal_title：European journal of endocrinology

    pub_type： 杂志文章

    doi：10.1530/EJE-07-0117

    authors： Kann PH,Ivan D,Pfützner A,Forst T,Langer P,Schaefer S

    更新日期：2007-08-01 00:00:00