45,X/46,XY mosaicism: report on 14 patients from a Brazilian hospital. A retrospective study

Detalhes bibliográficos
Autor(a) principal: Rosa,Rafael Fabiano Machado
Data de Publicação: 2014
Outros Autores: D'Ecclesiis,Willy Francisco Bartel, Dibbi,Raquel Papandreus, Rosa,Rosana Cardoso Manique, Trevisan,Patrícia, Graziadio,Carla, Paskulin,Giorgio Adriano, Zen,Paulo Ricardo Gazzola
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=S1516-31802014000600332
Resumo: CONTEXT AND OBJECTIVE: 45,X/46,XY mosaicism, or mixed gonadal dysgenesis, is considered to be a rare disorder of sex development. The aim of our study was to investigate the clinical and cytogenetic characteristics of patients with this mosaicism.DESIGN AND SETTING: A retrospective study in a referral hospital in southern Brazil.METHODS: Our sample consisted of patients diagnosed at the clinical genetics service of a referral hospital in southern Brazil, from 1975 to 2012. Clinical and cytogenetic data were collected from the medical records.RESULTS: Fourteen patients were included in the sample, with ages at the first evaluation ranging from 2 days to 38 years. Nine of them had female sex of rearing and five, male. Regarding the external genitalia, most were ambiguous (n = 10). One patient presented male phenotype and was treated for a history of azoospermia, while three patients presented female phenotype, of whom two had findings of Turner syndrome and one presented secondary amenorrhea alone. Some findings of Turner syndrome were observed even among patients with ambiguous genitalia. None presented gonadal malignancy. One patient underwent surgical correction for genital ambiguity and subsequent exchange of sex of rearing. Regarding cytogenetics, we did not observe any direct correlation between percentages of cell lines and phenotype.CONCLUSIONS: 45,X/46,XY mosaicism can present with a wide variety of phenotypes resulting from the involvement of different aspects of the individual. All these observations have important implications for early recognition of these patients and their appropriate management.
id APM-1_6caf6de2f7033903f6c74a854b8203f4
oai_identifier_str oai:scielo:S1516-31802014000600332
network_acronym_str APM-1
network_name_str São Paulo medical journal (Online)
repository_id_str
spelling 45,X/46,XY mosaicism: report on 14 patients from a Brazilian hospital. A retrospective studyGenitaliaMosaicismTurner syndromeAzoospermiaNeoplasmsCONTEXT AND OBJECTIVE: 45,X/46,XY mosaicism, or mixed gonadal dysgenesis, is considered to be a rare disorder of sex development. The aim of our study was to investigate the clinical and cytogenetic characteristics of patients with this mosaicism.DESIGN AND SETTING: A retrospective study in a referral hospital in southern Brazil.METHODS: Our sample consisted of patients diagnosed at the clinical genetics service of a referral hospital in southern Brazil, from 1975 to 2012. Clinical and cytogenetic data were collected from the medical records.RESULTS: Fourteen patients were included in the sample, with ages at the first evaluation ranging from 2 days to 38 years. Nine of them had female sex of rearing and five, male. Regarding the external genitalia, most were ambiguous (n = 10). One patient presented male phenotype and was treated for a history of azoospermia, while three patients presented female phenotype, of whom two had findings of Turner syndrome and one presented secondary amenorrhea alone. Some findings of Turner syndrome were observed even among patients with ambiguous genitalia. None presented gonadal malignancy. One patient underwent surgical correction for genital ambiguity and subsequent exchange of sex of rearing. Regarding cytogenetics, we did not observe any direct correlation between percentages of cell lines and phenotype.CONCLUSIONS: 45,X/46,XY mosaicism can present with a wide variety of phenotypes resulting from the involvement of different aspects of the individual. All these observations have important implications for early recognition of these patients and their appropriate management.Associação Paulista de Medicina - APM2014-12-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S1516-31802014000600332Sao Paulo Medical Journal v.132 n.6 2014reponame:São Paulo medical journal (Online)instname:Associação Paulista de Medicinainstacron:APM10.1590/1516-3180.2014.1326729info:eu-repo/semantics/openAccessRosa,Rafael Fabiano MachadoD'Ecclesiis,Willy Francisco BartelDibbi,Raquel PapandreusRosa,Rosana Cardoso ManiqueTrevisan,PatríciaGraziadio,CarlaPaskulin,Giorgio AdrianoZen,Paulo Ricardo Gazzolaeng2015-09-29T00:00:00Zoai:scielo:S1516-31802014000600332Revistahttp://www.scielo.br/spmjhttps://old.scielo.br/oai/scielo-oai.phprevistas@apm.org.br1806-94601516-3180opendoar:2015-09-29T00:00São Paulo medical journal (Online) - Associação Paulista de Medicinafalse
dc.title.none.fl_str_mv 45,X/46,XY mosaicism: report on 14 patients from a Brazilian hospital. A retrospective study
title 45,X/46,XY mosaicism: report on 14 patients from a Brazilian hospital. A retrospective study
spellingShingle 45,X/46,XY mosaicism: report on 14 patients from a Brazilian hospital. A retrospective study
Rosa,Rafael Fabiano Machado
Genitalia
Mosaicism
Turner syndrome
Azoospermia
Neoplasms
title_short 45,X/46,XY mosaicism: report on 14 patients from a Brazilian hospital. A retrospective study
title_full 45,X/46,XY mosaicism: report on 14 patients from a Brazilian hospital. A retrospective study
title_fullStr 45,X/46,XY mosaicism: report on 14 patients from a Brazilian hospital. A retrospective study
title_full_unstemmed 45,X/46,XY mosaicism: report on 14 patients from a Brazilian hospital. A retrospective study
title_sort 45,X/46,XY mosaicism: report on 14 patients from a Brazilian hospital. A retrospective study
author Rosa,Rafael Fabiano Machado
author_facet Rosa,Rafael Fabiano Machado
D'Ecclesiis,Willy Francisco Bartel
Dibbi,Raquel Papandreus
Rosa,Rosana Cardoso Manique
Trevisan,Patrícia
Graziadio,Carla
Paskulin,Giorgio Adriano
Zen,Paulo Ricardo Gazzola
author_role author
author2 D'Ecclesiis,Willy Francisco Bartel
Dibbi,Raquel Papandreus
Rosa,Rosana Cardoso Manique
Trevisan,Patrícia
Graziadio,Carla
Paskulin,Giorgio Adriano
Zen,Paulo Ricardo Gazzola
author2_role author
author
author
author
author
author
author
dc.contributor.author.fl_str_mv Rosa,Rafael Fabiano Machado
D'Ecclesiis,Willy Francisco Bartel
Dibbi,Raquel Papandreus
Rosa,Rosana Cardoso Manique
Trevisan,Patrícia
Graziadio,Carla
Paskulin,Giorgio Adriano
Zen,Paulo Ricardo Gazzola
dc.subject.por.fl_str_mv Genitalia
Mosaicism
Turner syndrome
Azoospermia
Neoplasms
topic Genitalia
Mosaicism
Turner syndrome
Azoospermia
Neoplasms
description CONTEXT AND OBJECTIVE: 45,X/46,XY mosaicism, or mixed gonadal dysgenesis, is considered to be a rare disorder of sex development. The aim of our study was to investigate the clinical and cytogenetic characteristics of patients with this mosaicism.DESIGN AND SETTING: A retrospective study in a referral hospital in southern Brazil.METHODS: Our sample consisted of patients diagnosed at the clinical genetics service of a referral hospital in southern Brazil, from 1975 to 2012. Clinical and cytogenetic data were collected from the medical records.RESULTS: Fourteen patients were included in the sample, with ages at the first evaluation ranging from 2 days to 38 years. Nine of them had female sex of rearing and five, male. Regarding the external genitalia, most were ambiguous (n = 10). One patient presented male phenotype and was treated for a history of azoospermia, while three patients presented female phenotype, of whom two had findings of Turner syndrome and one presented secondary amenorrhea alone. Some findings of Turner syndrome were observed even among patients with ambiguous genitalia. None presented gonadal malignancy. One patient underwent surgical correction for genital ambiguity and subsequent exchange of sex of rearing. Regarding cytogenetics, we did not observe any direct correlation between percentages of cell lines and phenotype.CONCLUSIONS: 45,X/46,XY mosaicism can present with a wide variety of phenotypes resulting from the involvement of different aspects of the individual. All these observations have important implications for early recognition of these patients and their appropriate management.
publishDate 2014
dc.date.none.fl_str_mv 2014-12-01
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=S1516-31802014000600332
url http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1516-31802014000600332
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 10.1590/1516-3180.2014.1326729
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.132 n.6 2014
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_ 1754209263981428736