Pub Date : 2016-04-01Epub Date: 2016-02-03DOI: 10.1210/jc.2015-3880
S D Joustra, C A Heinen, N Schoenmakers, M Bonomi, B E P B Ballieux, M-O Turgeon, D J Bernard, E Fliers, A S P van Trotsenburg, M Losekoot, L Persani, J M Wit, N R Biermasz, A M Pereira, W Oostdijk
Context: Mutations in the immunoglobulin superfamily, member 1 (IGSF1) gene cause the X-linked IGSF1 deficiency syndrome consisting of central hypothyroidism, delayed pubertal testosterone rise, adult macroorchidism, variable prolactin deficiency, and occasionally transient partial GH deficiency. Since our first reports, we discovered 20 new families with 18 new pathogenic IGSF1 mutations.
Objective: We aimed to share data on the largest cohort of patients with IGSF1 deficiency to date and formulate recommendations for clinical management.
Methods: We collected clinical and biochemical characteristics of 69 male patients (35 children, 34 adults) and 56 female IGSF1 mutation carriers (three children, 53 adults) from 30 unrelated families according to a standardized clinical protocol. At evaluation, boys were treated with levothyroxine in 89%, adult males in 44%, and females in 5% of cases.
Results: Additional symptoms in male patients included small thyroid gland volume (74%), high birth weight (25%), and large head circumference (20%). In general, the timing of pubertal testicular growth was normal or even premature, in contrast to a late rise in T levels. Late adrenarche was observed in patients with prolactin deficiency, and adult dehydroepiandrosterone concentrations were decreased in 40%. Hypocortisolism was observed in 6 of 28 evaluated newborns, although cortisol concentrations were normal later. Waist circumference of male patients was increased in 60%, but blood lipids were normal. Female carriers showed low free T4 (FT4) and low-normal FT4 in 18% and 60%, respectively, delayed age at menarche in 31%, mild prolactin deficiency in 22%, increased waist circumference in 57%, and a negative correlation between FT4 concentrations and metabolic parameters.
Conclusion: IGSF1 deficiency represents the most common genetic cause of central hypothyroidism and is associated with multiple other characteristics. Based on these results, we provide recommendations for mutational analysis, endocrine work-up, and long-term care.
{"title":"IGSF1 Deficiency: Lessons From an Extensive Case Series and Recommendations for Clinical Management.","authors":"S D Joustra, C A Heinen, N Schoenmakers, M Bonomi, B E P B Ballieux, M-O Turgeon, D J Bernard, E Fliers, A S P van Trotsenburg, M Losekoot, L Persani, J M Wit, N R Biermasz, A M Pereira, W Oostdijk","doi":"10.1210/jc.2015-3880","DOIUrl":"10.1210/jc.2015-3880","url":null,"abstract":"<p><strong>Context: </strong>Mutations in the immunoglobulin superfamily, member 1 (IGSF1) gene cause the X-linked IGSF1 deficiency syndrome consisting of central hypothyroidism, delayed pubertal testosterone rise, adult macroorchidism, variable prolactin deficiency, and occasionally transient partial GH deficiency. Since our first reports, we discovered 20 new families with 18 new pathogenic IGSF1 mutations.</p><p><strong>Objective: </strong>We aimed to share data on the largest cohort of patients with IGSF1 deficiency to date and formulate recommendations for clinical management.</p><p><strong>Methods: </strong>We collected clinical and biochemical characteristics of 69 male patients (35 children, 34 adults) and 56 female IGSF1 mutation carriers (three children, 53 adults) from 30 unrelated families according to a standardized clinical protocol. At evaluation, boys were treated with levothyroxine in 89%, adult males in 44%, and females in 5% of cases.</p><p><strong>Results: </strong>Additional symptoms in male patients included small thyroid gland volume (74%), high birth weight (25%), and large head circumference (20%). In general, the timing of pubertal testicular growth was normal or even premature, in contrast to a late rise in T levels. Late adrenarche was observed in patients with prolactin deficiency, and adult dehydroepiandrosterone concentrations were decreased in 40%. Hypocortisolism was observed in 6 of 28 evaluated newborns, although cortisol concentrations were normal later. Waist circumference of male patients was increased in 60%, but blood lipids were normal. Female carriers showed low free T4 (FT4) and low-normal FT4 in 18% and 60%, respectively, delayed age at menarche in 31%, mild prolactin deficiency in 22%, increased waist circumference in 57%, and a negative correlation between FT4 concentrations and metabolic parameters.</p><p><strong>Conclusion: </strong>IGSF1 deficiency represents the most common genetic cause of central hypothyroidism and is associated with multiple other characteristics. Based on these results, we provide recommendations for mutational analysis, endocrine work-up, and long-term care.</p>","PeriodicalId":39865,"journal":{"name":"中国肿瘤临床","volume":"2 1","pages":"1627-36"},"PeriodicalIF":5.8,"publicationDate":"2016-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4880178/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"73768644","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}
Pub Date : 2009-05-30DOI: 10.1007/S11805-009-0047-5
Tong Fang, Bo Liu, Hong Gao
{"title":"Study on fractionated total body irradiation before hematopoietic stem cell transplantation","authors":"Tong Fang, Bo Liu, Hong Gao","doi":"10.1007/S11805-009-0047-5","DOIUrl":"https://doi.org/10.1007/S11805-009-0047-5","url":null,"abstract":"","PeriodicalId":39865,"journal":{"name":"中国肿瘤临床","volume":"6 1","pages":"47-50"},"PeriodicalIF":0.0,"publicationDate":"2009-05-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/S11805-009-0047-5","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"52713120","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}
Pub Date : 2009-05-30DOI: 10.1007/S11805-009-0001-6
S. Abou-Sharieha, Yuh Sugii, Tuoya, Dongwei Yu, Ling Chen, H. Tokutaka, M. Seno
{"title":"Identification of TM9SF2 as a candidate of the cell surface marker common to breast carcinoma cells","authors":"S. Abou-Sharieha, Yuh Sugii, Tuoya, Dongwei Yu, Ling Chen, H. Tokutaka, M. Seno","doi":"10.1007/S11805-009-0001-6","DOIUrl":"https://doi.org/10.1007/S11805-009-0001-6","url":null,"abstract":"","PeriodicalId":39865,"journal":{"name":"中国肿瘤临床","volume":"6 1","pages":"1-9"},"PeriodicalIF":0.0,"publicationDate":"2009-05-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/S11805-009-0001-6","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"52712994","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}
Pub Date : 2009-05-30DOI: 10.1007/S11805-009-0021-2
Ming Li, Liyu Cao, Hong-fu Zhang, Yu Yin, Xiaochun Xu
{"title":"Expression of 6 microRNAs in prostate cancer and its significance","authors":"Ming Li, Liyu Cao, Hong-fu Zhang, Yu Yin, Xiaochun Xu","doi":"10.1007/S11805-009-0021-2","DOIUrl":"https://doi.org/10.1007/S11805-009-0021-2","url":null,"abstract":"","PeriodicalId":39865,"journal":{"name":"中国肿瘤临床","volume":"6 1","pages":"21-28"},"PeriodicalIF":0.0,"publicationDate":"2009-05-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/S11805-009-0021-2","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"52713046","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}
Pub Date : 2009-05-30DOI: 10.1007/S11805-009-0010-5
Chuan-min Chen, Jianqiu Chen, Jinjin Sun
{"title":"HIF-1α siRNA leads to apoptosis of pancreatic cancer cells under hypoxic conditions","authors":"Chuan-min Chen, Jianqiu Chen, Jinjin Sun","doi":"10.1007/S11805-009-0010-5","DOIUrl":"https://doi.org/10.1007/S11805-009-0010-5","url":null,"abstract":"","PeriodicalId":39865,"journal":{"name":"中国肿瘤临床","volume":"6 1","pages":"10-15"},"PeriodicalIF":0.0,"publicationDate":"2009-05-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/S11805-009-0010-5","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"52713007","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}
Pub Date : 2009-05-30DOI: 10.1007/S11805-009-0029-7
Jiang Wang, Anmin Chen, F. Guo
{"title":"Study on inhibition of growth of ACHN cells via shRNA expression vector-mediated cyclinE1 gene silencing","authors":"Jiang Wang, Anmin Chen, F. Guo","doi":"10.1007/S11805-009-0029-7","DOIUrl":"https://doi.org/10.1007/S11805-009-0029-7","url":null,"abstract":"","PeriodicalId":39865,"journal":{"name":"中国肿瘤临床","volume":"6 1","pages":"29-35"},"PeriodicalIF":0.0,"publicationDate":"2009-05-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/S11805-009-0029-7","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"52713057","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}
Pub Date : 2009-05-30DOI: 10.1007/S11805-009-0059-1
Lei Yang, Z. Song, Xiaohong Xu, Jinzhi Wei, Qinghe Tan, Zhirong Cong, C. Peng
{"title":"Analysis of efficacy of DICE (dexamethasone, ifosfamide, cisplatin and etoposide) regimen on recurrent and refractory intermediate and high grade non-Hodgkin’s lymphoma","authors":"Lei Yang, Z. Song, Xiaohong Xu, Jinzhi Wei, Qinghe Tan, Zhirong Cong, C. Peng","doi":"10.1007/S11805-009-0059-1","DOIUrl":"https://doi.org/10.1007/S11805-009-0059-1","url":null,"abstract":"","PeriodicalId":39865,"journal":{"name":"中国肿瘤临床","volume":"6 1","pages":"59-63"},"PeriodicalIF":0.0,"publicationDate":"2009-05-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/S11805-009-0059-1","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"52713158","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}
Pub Date : 2009-05-30DOI: 10.1007/S11805-009-0055-5
D. He, Baoying Fang, Yangqiu Li, Gexiu Liu, Y. Zhang
{"title":"Bcl-2 small interfering RNA inhibits the growth of human lymphoma transplanted subcutaneously in nude mice","authors":"D. He, Baoying Fang, Yangqiu Li, Gexiu Liu, Y. Zhang","doi":"10.1007/S11805-009-0055-5","DOIUrl":"https://doi.org/10.1007/S11805-009-0055-5","url":null,"abstract":"","PeriodicalId":39865,"journal":{"name":"中国肿瘤临床","volume":"6 1","pages":"55-58"},"PeriodicalIF":0.0,"publicationDate":"2009-05-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/S11805-009-0055-5","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"52713140","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}
Pub Date : 2009-05-30DOI: 10.1007/S11805-009-0036-8
Y. Niu, Tieju Liu, Xuchen Cao, Xiu-min Ding, Li Wei, Yuxia Gao, Jun Liu
{"title":"The significance of minimally invasive core needle biopsy and immunohistochemistry analysis in 235 cases with breast lesions","authors":"Y. Niu, Tieju Liu, Xuchen Cao, Xiu-min Ding, Li Wei, Yuxia Gao, Jun Liu","doi":"10.1007/S11805-009-0036-8","DOIUrl":"https://doi.org/10.1007/S11805-009-0036-8","url":null,"abstract":"","PeriodicalId":39865,"journal":{"name":"中国肿瘤临床","volume":"6 1","pages":"36-41"},"PeriodicalIF":0.0,"publicationDate":"2009-05-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/S11805-009-0036-8","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"52713083","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}
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