Disorders of sex development: update on the genetic background, terminology and risk for the development of germ cell tumors
Background Considerable progress has been made on genetic mechanisms involved in disorders of sex development and on tumor formation in dysgenetic gonads. Clinical and psychological outcome of patients are, as far as evaluated, unsatisfactory at present. Guidelines are emerging in order to optimize...
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| Veröffentlicht in: | World journal of pediatrics : WJP 2009-05, Vol.5 (2), p.93-102 |
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| container_title | World journal of pediatrics : WJP |
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| creator | Cools, Martine Looijenga, Leendert H. J. Wolffenbuttel, Katja P. Drop, Sten L. S. |
| description | Background
Considerable progress has been made on genetic mechanisms involved in disorders of sex development and on tumor formation in dysgenetic gonads. Clinical and psychological outcome of patients are, as far as evaluated, unsatisfactory at present. Guidelines are emerging in order to optimize long-term outcome in the future.
Data sources
The information obtained in this review is based on recent original publications and on the experience of our multidisciplinary clinical and research group.
Results
This review offers an update on our knowledge concerning gene mutations involving in disorders of sex development, on the renewed nomenclature and classification system, and on the mechanisms of tumor development in patients.
Conclusions
The consensus meeting on disorders of sex development has renewed our interest in clinical studies and long-term outcome of patients. Psychological research emphasizes the importance to consider male gender identity wherever possible in cases of severe undervirilization. Patient advocacy groups demand a more conservative approach regarding gonadectomy. Medical doctors, scientists and governmental instances are increasingly interested in the set-up of international research collaborations. As a consequence, it is expected that new guidelines for the optimal care of patients will be proposed in the coming years. |
| doi_str_mv | 10.1007/s12519-009-0020-7 |
| format | Article |
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Considerable progress has been made on genetic mechanisms involved in disorders of sex development and on tumor formation in dysgenetic gonads. Clinical and psychological outcome of patients are, as far as evaluated, unsatisfactory at present. Guidelines are emerging in order to optimize long-term outcome in the future.
Data sources
The information obtained in this review is based on recent original publications and on the experience of our multidisciplinary clinical and research group.
Results
This review offers an update on our knowledge concerning gene mutations involving in disorders of sex development, on the renewed nomenclature and classification system, and on the mechanisms of tumor development in patients.
Conclusions
The consensus meeting on disorders of sex development has renewed our interest in clinical studies and long-term outcome of patients. Psychological research emphasizes the importance to consider male gender identity wherever possible in cases of severe undervirilization. Patient advocacy groups demand a more conservative approach regarding gonadectomy. Medical doctors, scientists and governmental instances are increasingly interested in the set-up of international research collaborations. As a consequence, it is expected that new guidelines for the optimal care of patients will be proposed in the coming years.</description><identifier>ISSN: 1708-8569</identifier><identifier>EISSN: 1867-0687</identifier><identifier>DOI: 10.1007/s12519-009-0020-7</identifier><identifier>PMID: 19718530</identifier><language>eng</language><publisher>Heidelberg: SP Children’s Hospital, Zhejiang University School of Medicine</publisher><subject>Consensus Development Conferences as Topic ; Critical Care Medicine ; Disorders of Sex Development - classification ; Disorders of Sex Development - genetics ; Evidence-Based Medicine ; Gene Expression Profiling ; Genetic Markers - genetics ; Gonadal Dysgenesis - genetics ; Humans ; Imaging ; Intensive ; Maternal and Child Health ; Medicine ; Medicine & Public Health ; Mutation ; Neoplasms, Germ Cell and Embryonal - genetics ; Pediatric Surgery ; Pediatrics ; Phenotype ; Radiology ; Review Article ; Risk Assessment ; Risk Factors ; Sex Chromosomes - genetics ; Sexual Development - genetics ; Surgery</subject><ispartof>World journal of pediatrics : WJP, 2009-05, Vol.5 (2), p.93-102</ispartof><rights>Children's Hospital, Zhejiang University School of Medicine and Springer-Verlag GmbH 2009</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c342t-f8135c053c4f64615648e1273f3bf8fb5615b7df668c99b127e78231637b155b3</citedby><cites>FETCH-LOGICAL-c342t-f8135c053c4f64615648e1273f3bf8fb5615b7df668c99b127e78231637b155b3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://link.springer.com/content/pdf/10.1007/s12519-009-0020-7$$EPDF$$P50$$Gspringer$$H</linktopdf><linktohtml>$$Uhttps://link.springer.com/10.1007/s12519-009-0020-7$$EHTML$$P50$$Gspringer$$H</linktohtml><link.rule.ids>314,776,780,27901,27902,41464,42533,51294</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/19718530$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Cools, Martine</creatorcontrib><creatorcontrib>Looijenga, Leendert H. J.</creatorcontrib><creatorcontrib>Wolffenbuttel, Katja P.</creatorcontrib><creatorcontrib>Drop, Sten L. S.</creatorcontrib><title>Disorders of sex development: update on the genetic background, terminology and risk for the development of germ cell tumors</title><title>World journal of pediatrics : WJP</title><addtitle>World J Pediatr</addtitle><addtitle>World J Pediatr</addtitle><description>Background
Considerable progress has been made on genetic mechanisms involved in disorders of sex development and on tumor formation in dysgenetic gonads. Clinical and psychological outcome of patients are, as far as evaluated, unsatisfactory at present. Guidelines are emerging in order to optimize long-term outcome in the future.
Data sources
The information obtained in this review is based on recent original publications and on the experience of our multidisciplinary clinical and research group.
Results
This review offers an update on our knowledge concerning gene mutations involving in disorders of sex development, on the renewed nomenclature and classification system, and on the mechanisms of tumor development in patients.
Conclusions
The consensus meeting on disorders of sex development has renewed our interest in clinical studies and long-term outcome of patients. Psychological research emphasizes the importance to consider male gender identity wherever possible in cases of severe undervirilization. Patient advocacy groups demand a more conservative approach regarding gonadectomy. Medical doctors, scientists and governmental instances are increasingly interested in the set-up of international research collaborations. As a consequence, it is expected that new guidelines for the optimal care of patients will be proposed in the coming years.</description><subject>Consensus Development Conferences as Topic</subject><subject>Critical Care Medicine</subject><subject>Disorders of Sex Development - classification</subject><subject>Disorders of Sex Development - genetics</subject><subject>Evidence-Based Medicine</subject><subject>Gene Expression Profiling</subject><subject>Genetic Markers - genetics</subject><subject>Gonadal Dysgenesis - genetics</subject><subject>Humans</subject><subject>Imaging</subject><subject>Intensive</subject><subject>Maternal and Child Health</subject><subject>Medicine</subject><subject>Medicine & Public Health</subject><subject>Mutation</subject><subject>Neoplasms, Germ Cell and Embryonal - genetics</subject><subject>Pediatric Surgery</subject><subject>Pediatrics</subject><subject>Phenotype</subject><subject>Radiology</subject><subject>Review Article</subject><subject>Risk Assessment</subject><subject>Risk Factors</subject><subject>Sex Chromosomes - genetics</subject><subject>Sexual Development - genetics</subject><subject>Surgery</subject><issn>1708-8569</issn><issn>1867-0687</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2009</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kEtPxCAYRYnROOPoD3BjWLmyCqU86s6Mz8TEja5JHx9jZ1oYoTWa-OOlziS6ckEgfPeewEHomJJzSoi8CDTlNE8IGVdKErmDplQJmRCh5G48S6ISxUU-QQchLAkRKRVkH01oLqnijEzR13UTnK_BB-wMDvCBa3iH1q07sP0lHtZ10QN2FvevgBdgoW8qXBbVauHdYOsz3IPvGutat_jEha2xb8IKG-d_Cn9YI34Rs7iCtsX90DkfDtGeKdoAR9t9hl5ub57n98nj093D_OoxqViW9olRlPGKcFZlRmSCcpEpoKlkhpVGmZLHq1LWRghV5XkZJyBVyqhgsqScl2yGTjfctXdvA4Red00Y31FYcEPQQoqU0EzFIN0EK-9C8GD02jdd4T81JXpUrjfKdVSuR-Vaxs7JFj6UHdS_ja3jGEg3gRBHNjrQSzd4Gz_8D_UbWTKM8Q</recordid><startdate>20090501</startdate><enddate>20090501</enddate><creator>Cools, Martine</creator><creator>Looijenga, Leendert H. J.</creator><creator>Wolffenbuttel, Katja P.</creator><creator>Drop, Sten L. S.</creator><general>SP Children’s Hospital, Zhejiang University School of Medicine</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope></search><sort><creationdate>20090501</creationdate><title>Disorders of sex development: update on the genetic background, terminology and risk for the development of germ cell tumors</title><author>Cools, Martine ; Looijenga, Leendert H. J. ; Wolffenbuttel, Katja P. ; Drop, Sten L. S.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c342t-f8135c053c4f64615648e1273f3bf8fb5615b7df668c99b127e78231637b155b3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2009</creationdate><topic>Consensus Development Conferences as Topic</topic><topic>Critical Care Medicine</topic><topic>Disorders of Sex Development - classification</topic><topic>Disorders of Sex Development - genetics</topic><topic>Evidence-Based Medicine</topic><topic>Gene Expression Profiling</topic><topic>Genetic Markers - genetics</topic><topic>Gonadal Dysgenesis - genetics</topic><topic>Humans</topic><topic>Imaging</topic><topic>Intensive</topic><topic>Maternal and Child Health</topic><topic>Medicine</topic><topic>Medicine & Public Health</topic><topic>Mutation</topic><topic>Neoplasms, Germ Cell and Embryonal - genetics</topic><topic>Pediatric Surgery</topic><topic>Pediatrics</topic><topic>Phenotype</topic><topic>Radiology</topic><topic>Review Article</topic><topic>Risk Assessment</topic><topic>Risk Factors</topic><topic>Sex Chromosomes - genetics</topic><topic>Sexual Development - genetics</topic><topic>Surgery</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Cools, Martine</creatorcontrib><creatorcontrib>Looijenga, Leendert H. J.</creatorcontrib><creatorcontrib>Wolffenbuttel, Katja P.</creatorcontrib><creatorcontrib>Drop, Sten L. S.</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>World journal of pediatrics : WJP</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Cools, Martine</au><au>Looijenga, Leendert H. J.</au><au>Wolffenbuttel, Katja P.</au><au>Drop, Sten L. S.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Disorders of sex development: update on the genetic background, terminology and risk for the development of germ cell tumors</atitle><jtitle>World journal of pediatrics : WJP</jtitle><stitle>World J Pediatr</stitle><addtitle>World J Pediatr</addtitle><date>2009-05-01</date><risdate>2009</risdate><volume>5</volume><issue>2</issue><spage>93</spage><epage>102</epage><pages>93-102</pages><issn>1708-8569</issn><eissn>1867-0687</eissn><abstract>Background
Considerable progress has been made on genetic mechanisms involved in disorders of sex development and on tumor formation in dysgenetic gonads. Clinical and psychological outcome of patients are, as far as evaluated, unsatisfactory at present. Guidelines are emerging in order to optimize long-term outcome in the future.
Data sources
The information obtained in this review is based on recent original publications and on the experience of our multidisciplinary clinical and research group.
Results
This review offers an update on our knowledge concerning gene mutations involving in disorders of sex development, on the renewed nomenclature and classification system, and on the mechanisms of tumor development in patients.
Conclusions
The consensus meeting on disorders of sex development has renewed our interest in clinical studies and long-term outcome of patients. Psychological research emphasizes the importance to consider male gender identity wherever possible in cases of severe undervirilization. Patient advocacy groups demand a more conservative approach regarding gonadectomy. Medical doctors, scientists and governmental instances are increasingly interested in the set-up of international research collaborations. As a consequence, it is expected that new guidelines for the optimal care of patients will be proposed in the coming years.</abstract><cop>Heidelberg</cop><pub>SP Children’s Hospital, Zhejiang University School of Medicine</pub><pmid>19718530</pmid><doi>10.1007/s12519-009-0020-7</doi><tpages>10</tpages></addata></record> |
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| source | MEDLINE; Springer Nature - Complete Springer Journals |
| subjects | Consensus Development Conferences as Topic Critical Care Medicine Disorders of Sex Development - classification Disorders of Sex Development - genetics Evidence-Based Medicine Gene Expression Profiling Genetic Markers - genetics Gonadal Dysgenesis - genetics Humans Imaging Intensive Maternal and Child Health Medicine Medicine & Public Health Mutation Neoplasms, Germ Cell and Embryonal - genetics Pediatric Surgery Pediatrics Phenotype Radiology Review Article Risk Assessment Risk Factors Sex Chromosomes - genetics Sexual Development - genetics Surgery |
| title | Disorders of sex development: update on the genetic background, terminology and risk for the development of germ cell tumors |
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