Hormone research最新文献_第5页

Recent clinical and pathophysiological advances in non-functioning pituitary adenomas. 无功能垂体腺瘤的临床及病理生理研究进展。

Hormone research Pub Date : 2009-04-01 Epub Date: 2009-04-29 DOI: 10.1159/000192449

Márta Korbonits, Eivind Carlsen

{"title":"Recent clinical and pathophysiological advances in non-functioning pituitary adenomas.","authors":"Márta Korbonits, Eivind Carlsen","doi":"10.1159/000192449","DOIUrl":"https://doi.org/10.1159/000192449","url":null,"abstract":"Pituitary adenomas are being recognized and diagnosed with increasing frequency. One of the most common forms of pituitary lesion is the clinically non-functioning pituitary adenoma (NFPA), which is often diagnosed incidentally. The vast majority of pituitary adenomas are sporadic, but familial adenomas can occur in the multiple pituitary adenoma type 1 syndrome, in Carney complex or in familial isolated pituitary adenoma. Distinguishing NFPA from prolactinomas can occasionally cause a differential diagnostic problem due to the 'stalk effect'. NFPA often show hormone synthesis on tissue immunostaining without causing clinical symptoms. Most often these are silent gonadotroph adenomas, with silent corticotroph or somatotroph adenomas occurring less frequently. It is unclear why these silent adenomas do not release hormones at a clinically recognizable level, although it is probable that there is a continuum between fully functional and completely silent adenomas. Another intriguing feature of NFPAs is the lack of clinical response to somatostatin analogues, despite the presence of somatostatin receptors and an often good response in the in vitro setting. Temozolomide has been successfully used for the treatment of a few aggressive pituitary adenomas, and the response to this drug could be influenced by the expression of the DNA repair enzyme O-6-methylguanine DNA methyltransferase. The early diagnosis, prediction of long-term outcome and treatment of NFPAs remain a challenge for endocrinologists.","PeriodicalId":13225,"journal":{"name":"Hormone research","volume":"71 Suppl 2 ","pages":"123-30"},"PeriodicalIF":0.0,"publicationDate":"2009-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000192449","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"28217951","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 47

Silver-Russell and Beckwith-Wiedemann syndromes: opposite (epi)mutations in 11p15 result in opposite clinical pictures. silverrussell综合征和beckwithwithwiedemann综合征:11p15的相反(epi)突变导致相反的临床表现。

Hormone research Pub Date : 2009-04-01 Epub Date: 2009-04-29 DOI: 10.1159/000192433

Thomas Eggermann

{"title":"Silver-Russell and Beckwith-Wiedemann syndromes: opposite (epi)mutations in 11p15 result in opposite clinical pictures.","authors":"Thomas Eggermann","doi":"10.1159/000192433","DOIUrl":"https://doi.org/10.1159/000192433","url":null,"abstract":"Progress in the identification of the (epi)genetic basis of imprinting disorders has provided greater insight into the central role of imprinted genes in regular human growth. In addition to the well-known Prader-Willi, Angelman, and Beckwith-Wiedemann syndromes, imprinting disturbances have recently been identified in transient neonatal diabetes mellitus, uniparental disomy (14) syndromes and Silver- Russell syndrome (SRS). Among these diseases, the growth retardation disorder SRS is unique because it is the first human disorder associated with epigenetic mutations that affect two different chromosomes. In addition to maternal uniparental disomy of chromosome 7, hypomethylation of the imprinting control region 1 in 11p15 and maternal duplication of 11p15 have recently been described as major (epi)genetic disturbances in SRS. Interestingly, opposite (epi)- mutations are involved in the overgrowth disease Beckwith-Wiedemann syndrome (BWS). Thus SRS and BWS can be regarded as two genetically and clinically opposite clinical pictures. Although not yet completely understood, SRS and BWS can be used as models to decipher the functional link between the observed (epi)genetic mutations and the clinical features in individuals with disturbed growth. Future studies will clarify the complex basis of human growth and hopefully contribute to better-directed therapies.","PeriodicalId":13225,"journal":{"name":"Hormone research","volume":"71 Suppl 2 ","pages":"30-5"},"PeriodicalIF":0.0,"publicationDate":"2009-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000192433","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"28145132","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 68

Network of European studies of genes in growth (NESTEGG). 欧洲生长基因研究网络(NESTEGG)。

Hormone research Pub Date : 2009-04-01 Epub Date: 2009-04-29 DOI: 10.1159/000192436

Linda B Johnston, Wiestske Ester, Janina Caliebe, Catherine Molinas, Hartmut Wollmann, Linda Fryklund, Adrian J Clark, Michael B Ranke, Maithe Tauber, Anita Hokken Koelega, Martin O Savage

引用次数: 1

Noonan syndrome, the Ras-MAPK signalling pathway and short stature. 努南综合征，Ras-MAPK信号通路和身材矮小。

Hormone research Pub Date : 2009-04-01 Epub Date: 2009-04-29 DOI: 10.1159/000192439

Gerhard Binder

{"title":"Noonan syndrome, the Ras-MAPK signalling pathway and short stature.","authors":"Gerhard Binder","doi":"10.1159/000192439","DOIUrl":"https://doi.org/10.1159/000192439","url":null,"abstract":"Short stature, with a mean final height almost two standard deviations below the normal mean, is a major feature of Noonan syndrome. The biological basis of the growth failure is not yet clear. The recent detection of mutations in the protein tyrosine phosphatase, non-receptor type 11 gene (PTPN11) in half of all individuals with Noonan syndrome has opened up a new perspective from the endocrine point of view, since the tyrosine phosphatase SHP2 encoded by PTPN11 is implicated in the downregulation of growth hormone (GH) receptor signalling. Current data show decreased insulin-like growth factor (IGF)-I and IGF-binding protein 3 (IGFBP-3) levels in those children with Noonan syndrome who carry PTPN11 mutations. GH responsiveness seems to be reduced in the presence of PTPN11 mutations, but, so far, data are too scarce to draw any final conclusions. Children with Noonan or Noonan-related syndromes carrying mutations in components of the Ras-mitogen-activated protein kinase (MAPK) signalling pathway downstream from SHP2 also have short stature, though less frequently in the case of SOS1 mutations. Therefore, apart from the disturbance of GH signalling, there must be other relevant mechanisms that influence longitudinal growth in Noonan syndrome. In a small subgroup of patients with Noonan syndrome and Noonan-related syndromes, tumour risk is increased. This susceptibility is relevant when GH therapy is considered. Progress in the understanding of cell regulation by Ras-MAPK signalling and its interconnection with other pathways will hopefully provide evidence on which therapy might be helpful and which might be nocuous in the care of children with Noonan syndrome.","PeriodicalId":13225,"journal":{"name":"Hormone research","volume":"71 Suppl 2 ","pages":"64-70"},"PeriodicalIF":0.0,"publicationDate":"2009-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000192439","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"28145137","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 26

Oncogene-induced cellular senescence: causal factor in the growth arrest of pituitary microadenomas? 癌基因诱导的细胞衰老:垂体微腺瘤生长停滞的原因?

Hormone research Pub Date : 2009-04-01 Epub Date: 2009-04-29 DOI: 10.1159/000192442

Wolter J Mooi

引用次数: 13

Genetics, gene expression and bioinformatics of the pituitary gland. 垂体的遗传学、基因表达和生物信息学。

Hormone research Pub Date : 2009-04-01 Epub Date: 2009-04-29 DOI: 10.1159/000192447

Shannon W Davis, Mary Anne Potok, Michelle L Brinkmeier, Piero Carninci, Robert H Lyons, James W MacDonald, Michelle T Fleming, Amanda H Mortensen, Noboru Egashira, Debashis Ghosh, Karen P Steel, Robert Y Osamura, Yoshihide Hayashizaki, Sally A Camper

{"title":"Genetics, gene expression and bioinformatics of the pituitary gland.","authors":"Shannon W Davis, Mary Anne Potok, Michelle L Brinkmeier, Piero Carninci, Robert H Lyons, James W MacDonald, Michelle T Fleming, Amanda H Mortensen, Noboru Egashira, Debashis Ghosh, Karen P Steel, Robert Y Osamura, Yoshihide Hayashizaki, Sally A Camper","doi":"10.1159/000192447","DOIUrl":"10.1159/000192447","url":null,"abstract":"Genetic cases of congenital pituitary hormone deficiency are common and many are caused by transcription factor defects. Mouse models with orthologous mutations are invaluable for uncovering the molecular mechanisms that lead to problems in organ development and typical patient characteristics. We are using mutant mice defective in the transcription factors PROP1 and POU1F1 for gene expression profiling to identify target genes for these critical transcription factors and candidates for cases of pituitary hormone deficiency of unknown aetiology. These studies reveal critical roles for Wnt signalling pathways, including the TCF/LEF transcription factors and interacting proteins of the groucho family, bone morphogenetic protein antagonists and targets of notch signalling. Current studies are investigating the roles of novel homeobox genes and pathways that regulate the transition from proliferation to differentiation, cell adhesion and cell migration. Pituitary adenomas are a common human health problem, yet most cases are sporadic, necessitating alternative approaches to traditional Mendelian genetic studies. Mouse models of adenoma formation offer the opportunity for gene expression profiling during progressive stages of hyperplasia, adenoma and tumorigenesis. This approach holds promise for the identification of relevant pathways and candidate genes as risk factors for adenoma formation, understanding mechanisms of progression, and identifying drug targets and clinically relevant biomarkers.","PeriodicalId":13225,"journal":{"name":"Hormone research","volume":"71 Suppl 2 ","pages":"101-15"},"PeriodicalIF":0.0,"publicationDate":"2009-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3140954/pdf/nihms302380.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"28217952","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Use of recombinant human growth hormone in children with thalassemia. 重组人生长激素在地中海贫血儿童中的应用。

Hormone research Pub Date : 2009-01-01 Epub Date: 2009-01-21 DOI: 10.1159/000178037

Mitchell E Geffner, Hanna Karlsson

{"title":"Use of recombinant human growth hormone in children with thalassemia.","authors":"Mitchell E Geffner, Hanna Karlsson","doi":"10.1159/000178037","DOIUrl":"https://doi.org/10.1159/000178037","url":null,"abstract":"Background: Growth failure occurs in children with chronic anemias and, in particular, in approximately 30% of those with thalassemia.Methods: We assessed recombinant human growth hormone (rhGH) use in a large cohort of children with thalassemia enrolled in the Pfizer International Growth Study Database (KIGS).Results: We identified 147 short children with thalassemia who were treated with rhGH in KIGS. Of these, approximately 40% had a primary diagnosis of GH deficiency (GHD). They had low birth weight, short parents, reduced genetic height potential, low insulin-like growth factor I levels and delayed bone age. Treatment with rhGH for 1 year resulted in a significantly increased growth rate regardless of underlying GH or pubertal status. Although the resultant growth rates for thalassemic children were significantly higher than at baseline, they were less than those seen in similarly treated short children with or without GHD.Conclusions: GH testing should be performed in short thalassemic children, and those with GHD should be treated with rhGH. The value of rhGH therapy in short thalassemic children without GHD is less clear-cut and requires further study regarding final height outcome.","PeriodicalId":13225,"journal":{"name":"Hormone research","volume":"71 Suppl 1 ","pages":"46-50"},"PeriodicalIF":0.0,"publicationDate":"2009-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000178037","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"27932744","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 9

Platelet serotonin concentration and monoamine oxidase activity in hypothyroid patients. 甲状腺功能减退患者血小板血清素浓度与单胺氧化酶活性的关系。

Hormone research Pub Date : 2009-01-01 Epub Date: 2009-03-04 DOI: 10.1159/000201109

Tamara Stipcevic, Sanja Kusacic-Kuna, Martina Dezeljin, Damir Dodig, Mirko Korsic, Nela Pivac, Dorotea Muck-Seler

{"title":"Platelet serotonin concentration and monoamine oxidase activity in hypothyroid patients.","authors":"Tamara Stipcevic, Sanja Kusacic-Kuna, Martina Dezeljin, Damir Dodig, Mirko Korsic, Nela Pivac, Dorotea Muck-Seler","doi":"10.1159/000201109","DOIUrl":"https://doi.org/10.1159/000201109","url":null,"abstract":"Background/aim: The relationship between the hypothalamic-pituitary-thyroid (HPT) axis and the serotonergic (5-hydroxytryptamine, 5-HT) system is not clear. The aim of the study was to determine platelet biochemical markers (5-HT concentration and monoamine oxidase B, MAO-B, activity) in hypothyroid patients.Methods: The study included 25 medication-free female hypothyroid patients in postoperative follow-up after total thyroidectomy due to papillary thyroid carcinoma, who had not been treated with synthetic thyroxine (T(4)) for 4 weeks, and 44 age-matched euthyroid healthy women. The platelet 5-HT concentration, platelet MAO-B activity, total T(4) and thyroid-stimulating hormone (TSH) levels were determined using spectrofluorimetric methods, radioimmunoassay and fluoroimmunoassay, respectively.Results: Hypothyroid patients had significantly higher TSH, significantly lower T(4) levels and platelet 5-HT concentrations, and unchanged platelet MAO-B activity than healthy subjects. A positive correlation was found between the 5-HT concentration and platelet MAO-B activity, and between the platelet MAO-B activity and T(4) in control subjects.Conclusions: Reduced platelet 5-HT concentrations in hypothyroid patients suggests a complex interaction between the 5-HT system and HPT axis activity, which could be related to the frequent occurrence of depressive symptoms in hypothyroid patients. The determination of platelet 5-HT concentrations should be considered a diagnostic tool for the evaluation of depressive symptoms in hypothyroid patients during the hormone withdrawal procedure.","PeriodicalId":13225,"journal":{"name":"Hormone research","volume":"71 4","pages":"207-12"},"PeriodicalIF":0.0,"publicationDate":"2009-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000201109","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"28019513","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 10

Androgen receptor modulation does not affect longitudinal growth of cultured fetal rat metatarsal bones. 雄激素受体调节不影响培养胎鼠跖骨的纵向生长。

Hormone research Pub Date : 2009-01-01 Epub Date: 2009-03-04 DOI: 10.1159/000201111

Andrei S Chagin, Johanna Vannesjö, Lars Sävendahl

{"title":"Androgen receptor modulation does not affect longitudinal growth of cultured fetal rat metatarsal bones.","authors":"Andrei S Chagin, Johanna Vannesjö, Lars Sävendahl","doi":"10.1159/000201111","DOIUrl":"https://doi.org/10.1159/000201111","url":null,"abstract":"Background: Systemic administration of the nonaromatizable androgen oxandrolone stimulates growth in girls with Turner syndrome and boys with a constitutional delay of growth and puberty. It is unknown if oxandrolone acts locally at the growth plate level to stimulate longitudinal bone growth.Methods: Metatarsal bones from female and male rat fetuses (day E20) were cultured for 14 days in the presence of oxandrolone, testosterone or the androgen receptor (AR) antagonist flutamide with/without insulin-like growth-factor-I (IGF-I) or charcoal-treated serum.Results: The AR was found to be expressed in both male and female fetal rat metatarsal bones. Neither oxandrolone nor testosterone had any effect on metatarsal bone growth when tested at a wide concentration range (1 nM to 10 microM), not even in the presence of IGF-I (100 ng/ml) or charcoal-treated serum (10%). Bone growth was also unaffected when the AR was blocked by flutamide. Control experiments confirmed that metatarsal bone growth was significantly stimulated by IGF-I (p < 0.001).Conclusion: Modulation of AR activity in the fetal rat growth plate does not affect linear bone growth. Extrapolating from these in vitro data, it could be speculated that oxandrolone stimulates longitudinal bone growth in treated children by acting indirectly rather than directly through AR activation in growth plate chondrocytes.","PeriodicalId":13225,"journal":{"name":"Hormone research","volume":"71 4","pages":"219-27"},"PeriodicalIF":0.0,"publicationDate":"2009-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000201111","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"28020651","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 17

Long-term follow-up of GH-treated girls with Turner syndrome: metabolic consequences. gh治疗的特纳综合征女孩的长期随访:代谢后果。

Hormone research Pub Date : 2009-01-01 Epub Date: 2009-06-09 DOI: 10.1159/000223419

Ellen M N Bannink, Roel L F van der Palen, Paul G H Mulder, Sabine M P F de Muinck Keizer-Schrama

{"title":"Long-term follow-up of GH-treated girls with Turner syndrome: metabolic consequences.","authors":"Ellen M N Bannink, Roel L F van der Palen, Paul G H Mulder, Sabine M P F de Muinck Keizer-Schrama","doi":"10.1159/000223419","DOIUrl":"https://doi.org/10.1159/000223419","url":null,"abstract":"Aims: To investigate the metabolic consequences of long-term GH treatment in young women with Turner syndrome (TS), several years after GH discontinuation.Methods: Follow-up study of a randomized GH dose-response trial, with 3 GH dosages (1.3, 2.0, and 2.7 mg/m(2)/day). Thirty-nine TS patients (20.0 +/- 2.1 years) participated 4.8 +/- 1.9 years after GH discontinuation. Mean GH treatment duration was 8.7 +/- 2.0 years. Fasting glucose, insulin, and serum lipids were measured.Results: Several years after GH discontinuation, insulin sensitivity remained lower, while beta-cell function and fasting insulin levels remained higher than before treatment. Only BMI influenced beta-cell function. Serum total cholesterol (TC), low-density lipoprotein and high-density lipoprotein (HDL) had further increased compared to 6 months after GH, resulting in higher TC, but also higher HDL levels compared to controls. The atherogenic index remained constant, but lower than controls.Conclusions: Besides height, GH therapy in girls with TS has additional beneficial effects on serum lipids. Nearly 5 years after discontinuation of GH therapy the favorable effect of GH was still noticeable. The GH-induced decrease in insulin sensitivity, however, remained unchanged, possibly due to having TS.","PeriodicalId":13225,"journal":{"name":"Hormone research","volume":"71 6","pages":"343-9"},"PeriodicalIF":0.0,"publicationDate":"2009-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000223419","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"28228241","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 40