Current controversies in turner syndrome: Genetic testing, assisted reproduction, and cardiovascular risks
Patients with Turner syndrome (TS) require close medical follow-up and management for cardiac abnormalities, growth and reproductive issues. This review summarizes current controversies in this condition, including: 1) the optimal genetic testing for Turner syndrome patients, particularly with respe...
| Main Authors: | , |
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| Format: | Article |
| Language: | English |
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Elsevier
2014-09-01
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| Series: | Journal of Clinical & Translational Endocrinology |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2214623714000179 |
| _version_ | 1818128985191612416 |
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| author | Amanda Ackermann Vaneeta Bamba |
| author_facet | Amanda Ackermann Vaneeta Bamba |
| author_sort | Amanda Ackermann |
| collection | DOAJ |
| description | Patients with Turner syndrome (TS) require close medical follow-up and management for cardiac abnormalities, growth and reproductive issues. This review summarizes current controversies in this condition, including: 1) the optimal genetic testing for Turner syndrome patients, particularly with respect to identification of Y chromosome material that may increase the patient's risk of gonadoblastoma and dysgerminoma, 2) which patients should be referred for bilateral gonadectomy and the recommended timing of such referral, 3) options for assisted reproduction in these patients and associated risks, 4) the increased risk of mortality associated with pregnancy in this population, and 5) how best to assess and monitor cardiovascular risks. |
| first_indexed | 2024-12-11T07:41:57Z |
| format | Article |
| id | doaj.art-72be4dbcd84b491a8a889898d4146ed1 |
| institution | Directory Open Access Journal |
| issn | 2214-6237 |
| language | English |
| last_indexed | 2024-12-11T07:41:57Z |
| publishDate | 2014-09-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Journal of Clinical & Translational Endocrinology |
| spelling | doaj.art-72be4dbcd84b491a8a889898d4146ed12022-12-22T01:15:33ZengElsevierJournal of Clinical & Translational Endocrinology2214-62372014-09-0113616510.1016/j.jcte.2014.05.003Current controversies in turner syndrome: Genetic testing, assisted reproduction, and cardiovascular risksAmanda AckermannVaneeta BambaPatients with Turner syndrome (TS) require close medical follow-up and management for cardiac abnormalities, growth and reproductive issues. This review summarizes current controversies in this condition, including: 1) the optimal genetic testing for Turner syndrome patients, particularly with respect to identification of Y chromosome material that may increase the patient's risk of gonadoblastoma and dysgerminoma, 2) which patients should be referred for bilateral gonadectomy and the recommended timing of such referral, 3) options for assisted reproduction in these patients and associated risks, 4) the increased risk of mortality associated with pregnancy in this population, and 5) how best to assess and monitor cardiovascular risks.http://www.sciencedirect.com/science/article/pii/S2214623714000179Turner syndromeGenetic testingGonadoblastomaCardiac MRIInfertilityAortic dissection |
| spellingShingle | Amanda Ackermann Vaneeta Bamba Current controversies in turner syndrome: Genetic testing, assisted reproduction, and cardiovascular risks Journal of Clinical & Translational Endocrinology Turner syndrome Genetic testing Gonadoblastoma Cardiac MRI Infertility Aortic dissection |
| title | Current controversies in turner syndrome: Genetic testing, assisted reproduction, and cardiovascular risks |
| title_full | Current controversies in turner syndrome: Genetic testing, assisted reproduction, and cardiovascular risks |
| title_fullStr | Current controversies in turner syndrome: Genetic testing, assisted reproduction, and cardiovascular risks |
| title_full_unstemmed | Current controversies in turner syndrome: Genetic testing, assisted reproduction, and cardiovascular risks |
| title_short | Current controversies in turner syndrome: Genetic testing, assisted reproduction, and cardiovascular risks |
| title_sort | current controversies in turner syndrome genetic testing assisted reproduction and cardiovascular risks |
| topic | Turner syndrome Genetic testing Gonadoblastoma Cardiac MRI Infertility Aortic dissection |
| url | http://www.sciencedirect.com/science/article/pii/S2214623714000179 |
| work_keys_str_mv | AT amandaackermann currentcontroversiesinturnersyndromegenetictestingassistedreproductionandcardiovascularrisks AT vaneetabamba currentcontroversiesinturnersyndromegenetictestingassistedreproductionandcardiovascularrisks |