当前位置： SCI文献检索 > EUROPEAN JOURNAL OF ENDOCRINOLOGY期刊下所有文献 > Serum GH response to pharmacological stimuli and physical exercise in two siblings with two new inactivating mutations in the GH-releasing hormone receptor gene.

Serum GH response to pharmacological stimuli and physical exercise in two siblings with two new inactivating mutations in the GH-releasing hormone receptor gene.

Abstract：

OBJECTIVE:Inactivating mutations of the GH-releasing hormone receptor (GHRHR) gene (GHRHR) cause familial isolated GH deficiency (IGHD) type IB. The GH response to physical exercise (PE) in patients lacking GHRHR has never been studied. We hypothesized that subjects lacking functional GHRHR may be a model to study GH response to PE. DESIGN:We have analyzed peripheral genomic DNA of a family with two sibs affected by IGHD IB for mutations in the GHRHR, studied the patients' GH response to different GH secretagogues and to PE, and examined the morphology of their pituitary gland by magnetic resonance imaging (MRI). METHODS:The GHRHR was analyzed by direct sequencing of the 13 exons, intron-exon boundaries, and of the proximal 327 bp of the promoter region in the index case. The patients' GH response to GHRH and standardized PE was studied twice, using a GH ultrasensitive assay in the second round of testing. RESULTS:Both subjects were compound heterozygotes for two previously undescribed mutations in the GHRHR that are predicted to cause complete lack of functional GHRHR protein: a nonsense mutation in codon 43 (Q43X), and a splice mutation at the beginning of intron 3 (IVS3+1G-->A). MRI showed hypoplasia of their anterior pituitaries. Both subjects had a small but detectable increase in serum GH after maximal PE. CONCLUSIONS:GHRHR mutations need to be considered in IGHD IB patients even in the absence of parental consanguinity, and patients lacking GHRHR may provide a model to study the mechanism by which PE influences GH secretion.

journal_name

Eur J Endocrinol

journal_title

European journal of endocrinology

authors

Salvatori R,Fan X,Veldhuis JD,Couch R

doi

10.1530/eje.0.1470591

subject

Has Abstract

pub_date

2002-11-01 00:00:00

pages

591-6

issue

5

eissn

0804-4643

issn

1479-683X

journal_volume

147

pub_type

杂志文章

相关文献

EUROPEAN JOURNAL OF ENDOCRINOLOGY文献大全
  • Relationship between serum dehydroepiandrosterone sulfate, androstenedione, and sex hormones in men and women.

    abstract：:Previous reports of a correlation between serum dehydroepiandrosterone sulfate (DHEAS) and testosterone in both men and women have led to the suggestion that adrenal and gonadal secretion are related. In the present study, the correlation of DHEAS with testosterone and free testosterone (FT) in both normal men and wom...

    journal_title：European journal of endocrinology

    pub_type： 杂志文章

    doi：10.1530/eje.0.1340201

    authors： Phillips GB

    更新日期：1996-02-01 00:00:00

  • High serum luteinizing hormone levels induce ovarian delta4 cytochrome P450c17alpha down-regulation in hirsute women: complete effect on 17-hydroxylase and partial effect on 17,20-lyase.

    abstract：:It is well known that normal and mildly elevated luteinizing hormone (LH) levels induce increased activity of ovarian 17-hydroxylase and 17,20-lyase, the cytochrome P450cl7alpha (P450) enzymes. This leads to increased ovarian 17alpha-hydroxyprogesterone (17-OHP) and androstenedione production. In contrast, it has been...

    journal_title：European journal of endocrinology

    pub_type： 临床试验,杂志文章

    doi：10.1530/eje.0.1390304

    authors： Rieu M,Mourrieras F,Riveline JP,Laplanche S,Both D,Kuhn JM

    更新日期：1998-09-01 00:00:00

  • Clinical characteristics of pain in patients with pituitary adenomas.

    abstract：OBJECTIVE:Clinical presentation of pituitary adenomas frequently involves pain, particularly headache, due to structural and functional properties of the tumour. Our aim was to investigate the clinical characteristics of pain in a large cohort of patients with pituitary disease. DESIGN:In a cross-sectional study, we a...

    journal_title：European journal of endocrinology

    pub_type： 杂志文章

    doi：10.1530/EJE-14-0375

    authors： Dimopoulou C,Athanasoulia AP,Hanisch E,Held S,Sprenger T,Toelle TR,Roemmler-Zehrer J,Schopohl J,Stalla GK,Sievers C

    更新日期：2014-11-01 00:00:00

  • Graves' disease in children and adolescents. Late results of surgical treatment.

    abstract：:All children and adolescents with Graves' disease in the county of Uppsala (catchment area population 250,000) treated between 1970 and 1994 were evaluated in a retrospective study. The material comprised 31 patients with a mean age of 11 years (range 4-16), 29 (94%) of whom were girls, and four (13%) of the patients ...

    journal_title：European journal of endocrinology

    pub_type： 杂志文章

    doi：10.1530/eje.0.1340710

    authors： Rudberg C,Johansson H,Akerström G,Tuvemo T,Karlsson FA

    更新日期：1996-06-01 00:00:00

  • The relationship between cortisol and IGF-I influences metabolic alteration in pediatric overweight and obesity.

    abstract：Background/objective:Data on metabolic impairments in Cushing's syndrome and GH deficiency all suggest that the relationship between cortisol and GH/IGF-I axis in obesity may have a role in the related diseases. However, studies focusing only on one of these hormones are often controversial in paediatrics. We aimed to ...

    journal_title：European journal of endocrinology

    pub_type： 杂志文章

    doi：10.1530/EJE-19-0792

    authors： Ricotti R,Solito A,Mariotti Zani E,Caputo M,Genoni G,Barone-Adesi F,Mancioppi V,Agosti E,Aimaretti G,Bellone S,Prodam F

    更新日期：2020-03-01 00:00:00

  • The GH/IGF-I axis and longevity.

    abstract：:Several converging lines of evidence obtained over the last years in a wide variety of experimental model organisms suggest that the ageing process is regulated by genes that encode proteins from the somatotroph axis: longevity genes like daf-2, which were identified using mutant Caenorhabditis elegans strains, turned...

    journal_title：European journal of endocrinology

    pub_type： 杂志文章

    doi：10.1530/eje.0.151s023

    authors： Holzenberger M

    更新日期：2004-08-01 00:00:00

  • Pegvisomant and Pasireotide LAR as second line therapy in acromegaly: clinical effectiveness and predictors of response.

    abstract：Background:The treatment of acromegaly resistant to first-generation somatostatin receptor ligands (SRLs) is often difficult. Pegvisomant and Pasireotide LAR are mostly used in these subset of patients, as second line therapies. Choice of the type of second line therapies is difficult, since predictors of response are ...

    journal_title：European journal of endocrinology

    pub_type： 杂志文章

    doi：10.1530/EJE-20-0767

    authors： Chiloiro S,Giampietro A,Mirra F,Donfrancesco F,Tartaglione T,Mattogno PP,Angelini F,Liverana L,Gessi M,Carmelo A,Rindi G,Giustina A,Fleseriu M,Pontecorvi A,De Marinis L,Bianchi A

    更新日期：2021-02-01 00:00:00

  • Quantification of urinary insulin-like growth factors (IGFs) and IGF binding protein 3 in healthy volunteers before and after stimulation with recombinant human growth hormone.

    abstract：:We examined excretion of urinary insulin-like growth factors I and II (IGF-I and IGF-II) and their major binding protein IGFBP-3 in comparison to their respective serum concentration in nine healthy female volunteers (median age 25 years, range 22-27) under baseline conditions and after stimulation with recombinant hu...

    journal_title：European journal of endocrinology

    pub_type： 临床试验,杂志文章

    doi：10.1530/eje.0.1320433

    authors： Tönshoff B,Blum WF,Vickers M,Kurilenko S,Mehls O,Ritz E

    更新日期：1995-04-01 00:00:00

  • Androgen receptor gene GGN repeat length and reproductive characteristics in young Swedish men.

    abstract：BACKGROUND:The human androgen receptor (AR) gene contains two polymorphisms of CAG and GGN repeats respectively. The GGN repeat function is still largely unknown and to date there are no in vivo data on this segment with respect to the general population. METHODS:We investigated the impact of CAG and GGN repeats on ma...

    journal_title：European journal of endocrinology

    pub_type： 杂志文章

    doi：10.1530/eje.1.02204

    authors： Lundin KB,Giwercman YL,Rylander L,Hagmar L,Giwercman A

    更新日期：2006-08-01 00:00:00

  • Increased prevalence of polycystic ovary syndrome in premenopausal women with nonalcoholic fatty liver disease.

    abstract：OBJECTIVE:Limited data exist concerning the presence of polycystic ovary syndrome (PCOS) in premenopausal women with nonalcoholic fatty liver disease (NAFLD). We aimed to investigate the prevalence of PCOS in overweight and obese premenopausal women with NAFLD. DESIGN:Prospective, observational, and cross-sectional st...

    journal_title：European journal of endocrinology

    pub_type： 杂志文章

    doi：10.1530/EJE-15-0567

    authors： Vassilatou E,Vassiliadi DA,Salambasis K,Lazaridou H,Koutsomitopoulos N,Kelekis N,Kassanos D,Hadjidakis D,Dimitriadis G

    更新日期：2015-12-01 00:00:00

  • Efficacy and tolerability of lanreotide Autogel therapy in acromegalic patients previously treated with octreotide LAR.

    abstract：OBJECTIVE:This open label, multicentre study was designed to evaluate the efficacy and tolerability of lanreotide Autogel (L-Autogel) in acromegalic patients over a 24-week period. The outcome of treatment with this new, long-acting, aqueous formulation of lanreotide was also compared with the patients' previous treatm...

    journal_title：European journal of endocrinology

    pub_type： 临床试验,杂志文章,多中心研究

    doi：10.1530/eje.0.1510317

    authors： Alexopoulou O,Abrams P,Verhelst J,Poppe K,Velkeniers B,Abs R,Maiter D

    更新日期：2004-09-01 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

  • Prevalence, incidence and associated comorbidities of treated hypothyroidism: an update from a European population.

    abstract：OBJECTIVE:Estimates of the prevalence of hypothyroidism in unselected populations date from the late 1990s. We present an update on the prevalence and incidence of overt hypothyroidism in Piedmont, northwest Italy and examine the association between hypothyroidism and multiple chronic comorbidities. DESIGN AND METHODS...

    journal_title：European journal of endocrinology

    pub_type： 杂志文章

    doi：10.1530/EJE-16-0559

    authors： Giorda CB,Carnà P,Romeo F,Costa G,Tartaglino B,Gnavi R

    更新日期：2017-05-01 00:00:00

  • Bone microarchitecture and estimated bone strength in men with active acromegaly.

    abstract：CONTEXT:Both acromegaly and adult growth hormone deficiency (GHD) are associated with increased fracture risk. Sufficient data are lacking regarding cortical bone microarchitecture and bone strength, as assessed by microfinite element analysis (µFEA). OBJECTIVE:To elucidate both cortical and trabecular bone microarchi...

    journal_title：European journal of endocrinology

    pub_type： 杂志文章

    doi：10.1530/EJE-17-0468

    authors： Silva PPB,Amlashi FG,Yu EW,Pulaski-Liebert KJ,Gerweck AV,Fazeli PK,Lawson E,Nachtigall LB,Biller BMK,Miller KK,Klibanski A,Bouxsein M,Tritos NA

    更新日期：2017-11-01 00:00:00

  • Resistin promotes 3T3-L1 preadipocyte differentiation.

    abstract：OBJECTIVE:To investigate the relationship between resistin (a potential link between obesity and type 2 diabetes) and preadipocyte differentiation. DESIGN:A rat resistin expression vector was transfected into 3T3-L1 preadipocytes and differentiation was compared between normal 3T3-L1 cells, rat resistin-transfected ce...

    journal_title：European journal of endocrinology

    pub_type： 杂志文章

    doi：10.1530/eje.0.1500885

    authors： Gong H,Ni Y,Guo X,Fei L,Pan X,Guo M,Chen R

    更新日期：2004-06-01 00:00:00

  • Selective parathyroid venous sampling in patients with complicated hyperparathyroidism.

    abstract：OBJECTIVE:The role of preoperative localisation of abnormal parathyroid glands remains controversial but is particularly relevant to the management of patients with recurrent or persistent hyperparathyroidism and familial syndromes. We report our experience of the use of selective parathyroid venous sampling (PVS) in t...

    journal_title：European journal of endocrinology

    pub_type： 杂志文章

    doi：10.1530/eje.1.02304

    authors： Ogilvie CM,Brown PL,Matson M,Dacie J,Reznek RH,Britton K,Carpenter R,Berney D,Drake WM,Jenkins PJ,Chew SL,Monson JP

    更新日期：2006-12-01 00:00:00

  • Transient neonatal hyperthyrotropinemia is a risk factor for developing persistent hyperthyrotropinemia in childhood with repercussion on developmental status.

    abstract：OBJECTIVE:Transient neonatal hyperthyrotropinemia (TNH) is defined as a neonatal abnormality of thyroid function, which reverts to normal at re-examination after 2 weeks of life. The thyroid function of these infants has not been sufficiently studied in terms of the risk of developing persistent hyperthyrotropinemia (P...

    journal_title：European journal of endocrinology

    pub_type： 杂志文章

    doi：10.1530/EJE-13-0907

    authors： Cuestas E,Gaido MI,Capra RH

    更新日期：2015-04-01 00:00:00

  • Age-related differences in features associated with polycystic ovary syndrome in normogonadotrophic oligo-amenorrhoeic infertile women of reproductive years.

    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

    authors： Bili H,Laven J,Imani B,Eijkemans MJ,Fauser BC

    更新日期：2001-12-01 00:00:00

  • Changes in bone density and bone markers in rhythmic gymnasts and ballet dancers: implications for puberty and leptin levels.

    abstract：OBJECTIVE:Our aim was to compare physical activity and biochemical markers with bone mineral acquisition in rhythmic gymnasts and ballet dancers. METHODS:Weight, height, body mass index, nutritional intake, bone age and menstrual histories were analyzed in nine rhythmic gymnasts, twelve ballet dancers and fourteen con...

    journal_title：European journal of endocrinology

    pub_type： 杂志文章

    doi：10.1530/eje.0.1510491

    authors： Muñoz MT,de la Piedra C,Barrios V,Garrido G,Argente J

    更新日期：2004-10-01 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

  • Acute changes in endocrine and fluid balance markers during high-intensity, steady-state, and prolonged endurance running: unexpected increases in oxytocin and brain natriuretic peptide during exercise.

    abstract：:Maintenance of fluid homeostasis during periods of heightened physical stress can be best evaluated in humans using exercise as a model. Although it is well established that arginine vasopressin (AVP), aldosterone and atrial natriuretic peptide (ANP) are the principle hormones regulating fluid balance at rest, the pot...

    journal_title：European journal of endocrinology

    pub_type： 杂志文章

    doi：10.1530/EJE-08-0064

    authors： Hew-Butler T,Noakes TD,Soldin SJ,Verbalis JG

    更新日期：2008-12-01 00:00:00

  • Simplified and improved fluid deprivation test for diagnosing diabetes insipidus.

    abstract：Objective:The challenge of finding patients with the rare conditon of diabetes insipidus in need of vasopressin treatment is demanding. The guidelines for performing the fluid deprivation test and interpreting the results are abundant. We evaluated the discriminative capacity of the fluid deprivation test in patients w...

    journal_title：European journal of endocrinology

    pub_type： 杂志文章

    doi：10.1530/EJE-20-0759

    authors： Sjöström A,Bartuseviciene I,Höybye C

    更新日期：2021-01-01 00:00:00

  • Monocentric study of 112 consecutive patients with childhood onset GH deficiency around and after transition.

    abstract：OBJECTIVES:Our aim was to analyze a large cohort of childhood onset GH deficiency (CO-GHD) adults from a unique adult center, in order to analyze their clinical management and to study the metabolic and bone status in relation to GHD and to the other pituitary deficits, and to evaluate these parameters during the long-...

    journal_title：European journal of endocrinology

    pub_type： 杂志文章

    doi：10.1530/EJE-13-0572

    authors： Courtillot C,Baudoin R,Du Souich T,Saatdjian L,Tejedor I,Pinto G,Léger J,Polak M,Golmard JL,Touraine P,Transition GHD Group.

    更新日期：2013-10-01 00:00:00

  • Effects of deflazacort and cortisone on body growth, thymus weight and gene expression of growth-related proteins in the rat.

    abstract：:Deflazacort is an oxazoline derivative of cortisone with presumably less serious side effects, but its effects on growth factors are unknown. The present experiments in Long Evans rats were carried out to investigate how deflazacort administration affected the growing rat, especially in relation to hepatic insulin-lik...

    journal_title：European journal of endocrinology

    pub_type： 杂志文章

    doi：10.1530/eje.0.1310652

    authors： Latta K,Krieg RJ Jr,Chan W,Hisano S,Chan JC

    更新日期：1994-12-01 00:00:00

  • Expression of betaglycan in pregnant tIssues throughout gestation.

    abstract：BACKGROUND:Betaglycan is a membrane-anchored proteoglycan involved in mediating the passage of transforming growth factor-beta (TGF-beta), inhibin and activin activities into cells. TGF-beta and inhibin-related proteins are growth factors that are expressed by several tIssues and in pregnancy. They have a function in m...

    journal_title：European journal of endocrinology

    pub_type： 杂志文章

    doi：10.1530/eje.0.1490433

    authors： Ciarmela P,Florio P,Toti P,Grasso D,Santopietro R,Tosi P,Petraglia F

    更新日期：2003-11-01 00:00:00

  • Does dipeptidyl peptidase-4 inhibition prevent the diabetogenic effects of glucocorticoids in men with the metabolic syndrome? A randomized controlled trial.

    abstract：OBJECTIVE:Anti-inflammatory glucocorticoid (GC) therapy often induces hyperglycemia due to insulin resistance and islet-cell dysfunction. Incretin-based therapies may preserve glucose tolerance and pancreatic islet-cell function. In this study, we hypothesized that concomitant administration of the dipeptidyl peptidase...

    journal_title：European journal of endocrinology

    pub_type： 杂志文章,随机对照试验

    doi：10.1530/EJE-13-0610

    authors： van Genugten RE,van Raalte DH,Muskiet MH,Heymans MW,Pouwels PJ,Ouwens DM,Mari A,Diamant M

    更新日期：2014-02-04 00:00:00

  • Plasma thyrotropin bioactivity in Down's syndrome children with subclinical hypothyroidism.

    abstract：OBJECTIVE:Subclinical hypothyroidism occurs in a number of children with Down's syndrome (DS). The reason for the mildly elevated plasma thyrotropin (TSH) concentrations is not known. The present study investigated whether decreased TSH bioactivity plays a role in this phenomenon. DESIGN:A retrospective study of plasm...

    journal_title：European journal of endocrinology

    pub_type： 杂志文章

    doi：10.1530/eje.0.1440001

    authors： Konings CH,van Trotsenburg AS,Ris-Stalpers C,Vulsma T,Wiedijk BM,de Vijlder JJ

    更新日期：2001-01-01 00:00:00

  • GH deficiency in patients after cure of acromegaly by surgery alone.

    abstract：OBJECTIVE:The aim of this study was to determine the frequency and characteristics of severe GH deficiency (sGHD) in patients after treatment of acromegaly by surgery alone. DESIGN AND METHODS:One hundred and eighty-six patients fulfilling the criteria for cure of acromegaly were examined by GH-releasing peptide-2 sti...

    journal_title：European journal of endocrinology

    pub_type： 杂志文章

    doi：10.1530/EJE-11-0657

    authors： Yamada S,Fukuhara N,Nishioka H,Takeshita A,Suzuki H,Miyakawa M,Takeuchi Y

    更新日期：2011-12-01 00:00:00

  • Retinoic acid receptors alpha, beta and gamma, and cellular retinol binding protein-I expression in breast fibrocystic disease and cancer.

    abstract：:Retinoids seem to act as agents of chemoprevention and differentiation in breast diseases. Their action is mediated by nuclear receptors, retinoic acid receptors (RAR alpha, RAR beta, RAR gamma) and retinoid X receptors (RXR alpha, RXR beta, RXR gamma) and modulated by cellular retinol binding proteins (CRBP). There a...

    journal_title：European journal of endocrinology

    pub_type： 杂志文章

    doi：10.1530/eje.0.1370410

    authors： Pasquali D,Bellastella A,Valente A,Botti G,Capasso I,del Vecchio S,Salvatore M,Colantuoni V,Sinisi AA

    更新日期：1997-10-01 00:00:00

  • Proinflammatory cytokines interleukin 1 beta and tumor necrosis factor alpha inhibit growth hormone stimulation of insulin-like growth factor I synthesis and growth hormone receptor mRNA levels in cultured rat liver cells.

    abstract：:Low levels of insulin-like growth factor I (IGF-I) in critical illness are observed despite increased or normal levels of growth hormone (GH). The mechanisms for this apparent GH resistance have not been elucidated. As many of the acute inflammatory responses in critical illness are mediated by the proinflammatory cyt...

    journal_title：European journal of endocrinology

    pub_type： 杂志文章

    doi：10.1530/eje.0.1350729

    authors： Wolf M,Böhm S,Brand M,Kreymann G

    更新日期：1996-12-01 00:00:00