Turner syndrome: counseling prior to oocyte donation
Autor(a) principal: | |
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Data de Publicação: | 2007 |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | São Paulo medical journal (Online) |
Texto Completo: | http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1516-31802007000200009 |
Resumo: | Ovarian failure is a typical feature of Turner syndrome (TS). Patients are followed clinically with hormone replacement therapy (HRT) and inclusion in the oocyte donation program, if necessary. For patients with spontaneous puberty, genetic counseling regarding preimplantation genetic diagnosis and prenatal diagnosis is indicated. Patients with dysgenetic gonads and a Y chromosome are at increased risk of developing gonadoblastoma. Even though this is not an invasive tumor, its frequent association with other malignant forms justifies prophylactic gonadectomy. It is important to perform gonadectomy before HRT and pregnancy with oocyte donation. Among patients with TS stigmata and female genitalia, many have the Y chromosome in one of the cell lines. For this reason, all patients should undergo cytogenetic analysis. Nevertheless, in cases of structural chromosomal alterations or hidden mosaicism, the conventional cytogenetic techniques may be ineffective and molecular investigation is indicated. The author proposes a practical approach for investigating women with TS stigmata in whom identification of the X or Y chromosome is important for clinical management and follow-up. |
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Turner syndrome: counseling prior to oocyte donationTurner syndromeOocyte donationGonadoblastomaCounselingY chromosomeOvarian failure is a typical feature of Turner syndrome (TS). Patients are followed clinically with hormone replacement therapy (HRT) and inclusion in the oocyte donation program, if necessary. For patients with spontaneous puberty, genetic counseling regarding preimplantation genetic diagnosis and prenatal diagnosis is indicated. Patients with dysgenetic gonads and a Y chromosome are at increased risk of developing gonadoblastoma. Even though this is not an invasive tumor, its frequent association with other malignant forms justifies prophylactic gonadectomy. It is important to perform gonadectomy before HRT and pregnancy with oocyte donation. Among patients with TS stigmata and female genitalia, many have the Y chromosome in one of the cell lines. For this reason, all patients should undergo cytogenetic analysis. Nevertheless, in cases of structural chromosomal alterations or hidden mosaicism, the conventional cytogenetic techniques may be ineffective and molecular investigation is indicated. The author proposes a practical approach for investigating women with TS stigmata in whom identification of the X or Y chromosome is important for clinical management and follow-up.Associação Paulista de Medicina - APM2007-03-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S1516-31802007000200009Sao Paulo Medical Journal v.125 n.2 2007reponame:São Paulo medical journal (Online)instname:Associação Paulista de Medicinainstacron:APM10.1590/S1516-31802007000200009info:eu-repo/semantics/openAccessRamos,Ester Silveiraeng2007-07-03T00:00:00Zoai:scielo:S1516-31802007000200009Revistahttp://www.scielo.br/spmjhttps://old.scielo.br/oai/scielo-oai.phprevistas@apm.org.br1806-94601516-3180opendoar:2007-07-03T00:00São Paulo medical journal (Online) - Associação Paulista de Medicinafalse |
dc.title.none.fl_str_mv |
Turner syndrome: counseling prior to oocyte donation |
title |
Turner syndrome: counseling prior to oocyte donation |
spellingShingle |
Turner syndrome: counseling prior to oocyte donation Ramos,Ester Silveira Turner syndrome Oocyte donation Gonadoblastoma Counseling Y chromosome |
title_short |
Turner syndrome: counseling prior to oocyte donation |
title_full |
Turner syndrome: counseling prior to oocyte donation |
title_fullStr |
Turner syndrome: counseling prior to oocyte donation |
title_full_unstemmed |
Turner syndrome: counseling prior to oocyte donation |
title_sort |
Turner syndrome: counseling prior to oocyte donation |
author |
Ramos,Ester Silveira |
author_facet |
Ramos,Ester Silveira |
author_role |
author |
dc.contributor.author.fl_str_mv |
Ramos,Ester Silveira |
dc.subject.por.fl_str_mv |
Turner syndrome Oocyte donation Gonadoblastoma Counseling Y chromosome |
topic |
Turner syndrome Oocyte donation Gonadoblastoma Counseling Y chromosome |
description |
Ovarian failure is a typical feature of Turner syndrome (TS). Patients are followed clinically with hormone replacement therapy (HRT) and inclusion in the oocyte donation program, if necessary. For patients with spontaneous puberty, genetic counseling regarding preimplantation genetic diagnosis and prenatal diagnosis is indicated. Patients with dysgenetic gonads and a Y chromosome are at increased risk of developing gonadoblastoma. Even though this is not an invasive tumor, its frequent association with other malignant forms justifies prophylactic gonadectomy. It is important to perform gonadectomy before HRT and pregnancy with oocyte donation. Among patients with TS stigmata and female genitalia, many have the Y chromosome in one of the cell lines. For this reason, all patients should undergo cytogenetic analysis. Nevertheless, in cases of structural chromosomal alterations or hidden mosaicism, the conventional cytogenetic techniques may be ineffective and molecular investigation is indicated. The author proposes a practical approach for investigating women with TS stigmata in whom identification of the X or Y chromosome is important for clinical management and follow-up. |
publishDate |
2007 |
dc.date.none.fl_str_mv |
2007-03-01 |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1516-31802007000200009 |
url |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1516-31802007000200009 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
10.1590/S1516-31802007000200009 |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
text/html |
dc.publisher.none.fl_str_mv |
Associação Paulista de Medicina - APM |
publisher.none.fl_str_mv |
Associação Paulista de Medicina - APM |
dc.source.none.fl_str_mv |
Sao Paulo Medical Journal v.125 n.2 2007 reponame:São Paulo medical journal (Online) instname:Associação Paulista de Medicina instacron:APM |
instname_str |
Associação Paulista de Medicina |
instacron_str |
APM |
institution |
APM |
reponame_str |
São Paulo medical journal (Online) |
collection |
São Paulo medical journal (Online) |
repository.name.fl_str_mv |
São Paulo medical journal (Online) - Associação Paulista de Medicina |
repository.mail.fl_str_mv |
revistas@apm.org.br |
_version_ |
1754209261747961856 |