Hormone research最新文献

Growth hormone therapy in Noonan syndrome: growth response and characteristics. 生长激素治疗在努南综合征:生长反应和特点。

Hormone research Pub Date : 2009-12-01 Epub Date: 2009-12-22 DOI: 10.1159/000243778

Otto Westphal

引用次数: 5

Growth in Noonan syndrome. 努南综合征的生长。

Hormone research Pub Date : 2009-12-01 Epub Date: 2009-12-22 DOI: 10.1159/000243776

B J Otten, C Noordam

引用次数: 27

Neuropsychological and behavioral aspects of Noonan syndrome. 努南综合症的神经心理和行为方面。

Hormone research Pub Date : 2009-12-01 Epub Date: 2009-12-22 DOI: 10.1159/000243774

Ellen Wingbermuehle, Jos Egger, Ineke van der Burgt, Willem Verhoeven

引用次数: 35

Noonan syndrome: the hypothalamo-adrenal and hypothalamo-gonadal axes. 努南综合征:下丘脑-肾上腺轴和下丘脑-性腺轴。

Hormone research Pub Date : 2009-12-01 Epub Date: 2009-12-22 DOI: 10.1159/000243775

Christopher J H Kelnar

{"title":"Noonan syndrome: the hypothalamo-adrenal and hypothalamo-gonadal axes.","authors":"Christopher J H Kelnar","doi":"10.1159/000243775","DOIUrl":"https://doi.org/10.1159/000243775","url":null,"abstract":"The hypothalamo-pituitary-adrenal axis has not been studied systematically in Noonan syndrome (NS), despite potential concerns about other aspects of hypothalamo-pituitary function. While adrenarche may be delayed in children with constitutional growth of puberty and in isolated GH deficiency, this does not generally seem to be the case in hypergonadotrophic hypogonadism due to Turner syndrome (TS) and this is (anecdotally) the usual hormonal profile in NS children and adults. Precocious or 'exaggerated' adrenarche can be associated with intrauterine growth retardation and is a forerunner of syndrome X. Although NS neonates often have 'normal' birth weights, in some it can be artificially inflated by subcutaneous edema (as in TS, where intrauterine growth retardation is characteristic). Overall, however, a controlling role for adrenarche (whether precocious or delayed) in gonadarche in NS seems unlikely. Neither normally descended testes nor normal (even if delayed) pubertal development implies normal fertility in NS men. Interactions between fetal, neonatal, childhood and pubertal testis development and gonadal axis maturation are complex. There is probably a spectrum of abnormalities in NS, but most commonly primary gonadal failure and hypergonadotrophic hypogonadism - characteristic NS molecular genetic abnormalities - may be important for normal germ cell proliferation, development and migration. The identification of different gene defects facilitates understanding of NS phenotypic diversity and provides opportunities for prospective studies on gonadal and adrenal axes in better defined populations less subject to ascertainment bias. At a clinical level, more longitudinal data are still needed with regard to the natural history of pubertal timing, its tempo of progression and the pattern of pubertal growth.","PeriodicalId":13225,"journal":{"name":"Hormone research","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2009-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000243775","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"28609739","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: 11

Growing news on Noonan and related syndromes. 关于努南综合症和相关综合症的新闻越来越多。

Hormone research Pub Date : 2009-12-01 Epub Date: 2009-12-22 DOI: 10.1159/000243771

Joachim Woelfle, Berthold P Hauffa

引用次数: 0

Noonan syndrome: growth to growth hormone - the experience of observational studies. 努南综合征:生长到生长激素——观察性研究的经验。

Hormone research Pub Date : 2009-12-01 Epub Date: 2009-12-22 DOI: 10.1159/000243777

Michael B Ranke

{"title":"Noonan syndrome: growth to growth hormone - the experience of observational studies.","authors":"Michael B Ranke","doi":"10.1159/000243777","DOIUrl":"https://doi.org/10.1159/000243777","url":null,"abstract":"Short stature is one of the key features of Noonan syndrome (NS). Attempts have therefore been made to improve height by means of recombinant human growth hormone (rhGH) treatment. Most of these endeavors were carried out either as case studies or observational studies. The overall experience in treating NS is still rather limited, and, in general, it can be said that the NS patients who received GH treatment represent a very narrow segment. The dosages applied in both the case studies and observational studies tended to be higher than those used in the replacement therapy of GH-deficient patients, but lower than in Turner syndrome patients. The NS studies have shown that the overall height gain of patients is small (5-10 cm), and that treatment usually begins at the age of about 10 years, at a height of approximately -3.0 SDS. This small response to treatment reflects the external treatment conditions (i.e. late age at GH start, low GH dose), but may also be associated with the fact that impaired sensitivity to GH is common in NS. Both case studies and observational studies are necessary in order to obtain further evidence about the efficacy and safety of GH treatment in NS.","PeriodicalId":13225,"journal":{"name":"Hormone research","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2009-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000243777","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"28609740","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: 7

GH therapy in Noonan syndrome: Review of final height data. 努南综合征的生长激素治疗:最终身高数据的回顾。

Hormone research Pub Date : 2009-12-01 Epub Date: 2009-12-22 DOI: 10.1159/000243779

Jovanna Dahlgren

{"title":"GH therapy in Noonan syndrome: Review of final height data.","authors":"Jovanna Dahlgren","doi":"10.1159/000243779","DOIUrl":"https://doi.org/10.1159/000243779","url":null,"abstract":"Background and aims: Several studies, despite using small cohorts, have shown a short-term improvement in the height velocity of short children with Noonan syndrome (NS) when treated with recombinant growth hormone (GH). However, the question is whether or not this improvement is sustained until adult height is reached. This paper reviews the few studies reporting final height data of GH treatment in individuals with NS.Methods: Review of published papers from 4 main and several small studies with final height data after GH treatment in NS.Results: The range of height gain to adult age varies between 0.6 and 2.0 SDS, depending on genotype, age at start of treatment, duration of treatment and which growth charts are used. The younger the age at which treatment is started, the better the result. There seems to be a correlation between growth response and genotype, with a diminished growth response when the PTPN11 mutation is present.Conclusion: Data on the benefits of GH treatment during childhood and adolescence upon the final height are encouraging in individuals with NS. There is a substantial height gain during prepubertal years, which continues during the pubertal period, reaching a final height within the normal population in the majority of previously short individuals with NS.","PeriodicalId":13225,"journal":{"name":"Hormone research","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2009-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000243779","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"28609662","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

Genetic and pathogenetic aspects of Noonan syndrome and related disorders. 努南综合征和相关疾病的遗传和病理方面。

Hormone research Pub Date : 2009-12-01 Epub Date: 2009-12-22 DOI: 10.1159/000243782

Martin Zenker

引用次数: 45

Growth hormone and the heart in Noonan syndrome. 生长激素和努南综合征的心脏。

Hormone research Pub Date : 2009-12-01 Epub Date: 2009-12-22 DOI: 10.1159/000243780

C Noordam

{"title":"Growth hormone and the heart in Noonan syndrome.","authors":"C Noordam","doi":"10.1159/000243780","DOIUrl":"https://doi.org/10.1159/000243780","url":null,"abstract":"Background: The clinical hallmarks of Noonan syndrome (NS) are facial dysmorphism, short stature and cardiac defects. As one of the common cardiac defects in NS is hypertrophic cardiomyopathy, there have been concerns regarding cardiac safety since the start of human growth hormone (hGH) therapy for NS.Methods: Review of currently available data on the prevalence of cardiac defects, the theoretical effects of hGH on the heart and the results of studies on the effects of hGH on the heart.Results: The prevalence of cardiac defects in NS is high, and the spectrum is very broad. Progression of ventricular wall thickness during hGH therapy has never been reported. There are barely any data available on children with NS and hypertrophic cardiomyopathy collected during hGH therapy. In post-marketing surveillance studies, there are no reports of adverse cardiac events related to hGH therapy.Conclusion: The reported absence of negative effects of hGH therapy on the heart in NS and especially on ventricular wall thickness is reassuring. Still, keeping in mind the current limited experience, any effects on the heart resulting from hGH therapy should be monitored carefully in NS.","PeriodicalId":13225,"journal":{"name":"Hormone research","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2009-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000243780","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"28609663","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

Response to growth hormone in short children with Noonan syndrome: correlation to genotype. 努南综合征矮个子儿童对生长激素的反应:与基因型的相关性。

Hormone research Pub Date : 2009-12-01 Epub Date: 2009-12-22 DOI: 10.1159/000243781

Gerhard Binder

{"title":"Response to growth hormone in short children with Noonan syndrome: correlation to genotype.","authors":"Gerhard Binder","doi":"10.1159/000243781","DOIUrl":"https://doi.org/10.1159/000243781","url":null,"abstract":"Short stature is a major characteristic of Noonan syndrome (NS), the biological basis of which is not yet clear. In around half of all individuals with NS, the cytoplasmic tyrosine phosphatase SHP2 encoded by PTPN11 is mutated and predicted to be overactive. While SHP2 enhances Ras-MAPK signaling, it downregulates Jak2/STAT5b signaling of the growth hormone (GH) receptor, according to in vitro data. Decreased IGF-I levels have been measured in those children with NS who carried PTPN11 mutations suggesting a mode of mild GH insensitivity. The short-term responsiveness to GH therapy in NS with respect to PTPN11 mutations has been addressed in 3 studies in the past. The number of treated children was small and gene analysis was restricted to PTPN11, excluding the recent discovered candidate genes KRAS, RAF1 and SOS1. All 3 studies showed that GH responsiveness was mildly reduced in the presence of PTPN11 mutations; relevant long-term data, however, are missing. In a small subgroup of patients with NS, tumor risk is increased and related to specific mutations of Ras-MAPK pathway genes, including PTPN11. Therefore, when long-term GH therapy is intended to promote growth in children with NS, it has to be considered in relation to the genotype, the effective promotion of growth and the potentially increased tumor risk. Progress in the understanding of cell regulation by Ras-MAPK signaling will hopefully provide more evidence on which therapy might be helpful in the care of children with NS.","PeriodicalId":13225,"journal":{"name":"Hormone research","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2009-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000243781","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"28609664","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: 12