Novel homozygous mutation in a colombian patient with persistent müllerian duct syndrome: expanded phenotype

Detalhes bibliográficos
Autor(a) principal: Acero,Mary García
Data de Publicação: 2019
Outros Autores: Moreno,Olga, Gutiérrez,Andrés, Sánchez,Catalina, Cataño,Juan Guillermo, Suárez-Obando,Fernando, Rojas,Adriana
Tipo de documento: Relatório
Idioma: eng
Título da fonte: International Braz J Urol (Online)
Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1677-55382019000501064
Resumo: ABSTRACT The anti-Müllerian hormone triggers the regression of uterus and fallopian tubes in male embryos; if there are problems in the synthesis or action of this protein, Müllerian structures persist in an otherwise phenotypic male. The most frequent clinical presentation of Persistent Mullerian Duct syndrome is cryptorchidism and inguinal hernia. The few cases reported in adults are incidental findings or inguinal hernias. However, we present an adult male with history of bilateral cryptorchidism with unsuccessful orchidopexy, who presents with a large abdominal mass with the finding of a seminomatous tumor and persistence of Müllerian structures, in whom the variant c.916delC (p.Leu306Cysfs*29) in the AMHR2 gene not previously reported was documented.
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spelling Novel homozygous mutation in a colombian patient with persistent müllerian duct syndrome: expanded phenotypeMullerian DuctsAnti-Mullerian HormonePersistent Mullerian duct syndrome [Supplementary Concept]Disorders of Sex DevelopmentABSTRACT The anti-Müllerian hormone triggers the regression of uterus and fallopian tubes in male embryos; if there are problems in the synthesis or action of this protein, Müllerian structures persist in an otherwise phenotypic male. The most frequent clinical presentation of Persistent Mullerian Duct syndrome is cryptorchidism and inguinal hernia. The few cases reported in adults are incidental findings or inguinal hernias. However, we present an adult male with history of bilateral cryptorchidism with unsuccessful orchidopexy, who presents with a large abdominal mass with the finding of a seminomatous tumor and persistence of Müllerian structures, in whom the variant c.916delC (p.Leu306Cysfs*29) in the AMHR2 gene not previously reported was documented.Sociedade Brasileira de Urologia2019-09-01info:eu-repo/semantics/reportinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S1677-55382019000501064International braz j urol v.45 n.5 2019reponame:International Braz J Urol (Online)instname:Sociedade Brasileira de Urologia (SBU)instacron:SBU10.1590/s1677-5538.ibju.2018.0808info:eu-repo/semantics/openAccessAcero,Mary GarcíaMoreno,OlgaGutiérrez,AndrésSánchez,CatalinaCataño,Juan GuillermoSuárez-Obando,FernandoRojas,Adrianaeng2019-11-05T00:00:00Zoai:scielo:S1677-55382019000501064Revistahttp://www.brazjurol.com.br/ONGhttps://old.scielo.br/oai/scielo-oai.php||brazjurol@brazjurol.com.br1677-61191677-5538opendoar:2019-11-05T00:00International Braz J Urol (Online) - Sociedade Brasileira de Urologia (SBU)false
dc.title.none.fl_str_mv Novel homozygous mutation in a colombian patient with persistent müllerian duct syndrome: expanded phenotype
title Novel homozygous mutation in a colombian patient with persistent müllerian duct syndrome: expanded phenotype
spellingShingle Novel homozygous mutation in a colombian patient with persistent müllerian duct syndrome: expanded phenotype
Acero,Mary García
Mullerian Ducts
Anti-Mullerian Hormone
Persistent Mullerian duct syndrome [Supplementary Concept]
Disorders of Sex Development
title_short Novel homozygous mutation in a colombian patient with persistent müllerian duct syndrome: expanded phenotype
title_full Novel homozygous mutation in a colombian patient with persistent müllerian duct syndrome: expanded phenotype
title_fullStr Novel homozygous mutation in a colombian patient with persistent müllerian duct syndrome: expanded phenotype
title_full_unstemmed Novel homozygous mutation in a colombian patient with persistent müllerian duct syndrome: expanded phenotype
title_sort Novel homozygous mutation in a colombian patient with persistent müllerian duct syndrome: expanded phenotype
author Acero,Mary García
author_facet Acero,Mary García
Moreno,Olga
Gutiérrez,Andrés
Sánchez,Catalina
Cataño,Juan Guillermo
Suárez-Obando,Fernando
Rojas,Adriana
author_role author
author2 Moreno,Olga
Gutiérrez,Andrés
Sánchez,Catalina
Cataño,Juan Guillermo
Suárez-Obando,Fernando
Rojas,Adriana
author2_role author
author
author
author
author
author
dc.contributor.author.fl_str_mv Acero,Mary García
Moreno,Olga
Gutiérrez,Andrés
Sánchez,Catalina
Cataño,Juan Guillermo
Suárez-Obando,Fernando
Rojas,Adriana
dc.subject.por.fl_str_mv Mullerian Ducts
Anti-Mullerian Hormone
Persistent Mullerian duct syndrome [Supplementary Concept]
Disorders of Sex Development
topic Mullerian Ducts
Anti-Mullerian Hormone
Persistent Mullerian duct syndrome [Supplementary Concept]
Disorders of Sex Development
description ABSTRACT The anti-Müllerian hormone triggers the regression of uterus and fallopian tubes in male embryos; if there are problems in the synthesis or action of this protein, Müllerian structures persist in an otherwise phenotypic male. The most frequent clinical presentation of Persistent Mullerian Duct syndrome is cryptorchidism and inguinal hernia. The few cases reported in adults are incidental findings or inguinal hernias. However, we present an adult male with history of bilateral cryptorchidism with unsuccessful orchidopexy, who presents with a large abdominal mass with the finding of a seminomatous tumor and persistence of Müllerian structures, in whom the variant c.916delC (p.Leu306Cysfs*29) in the AMHR2 gene not previously reported was documented.
publishDate 2019
dc.date.none.fl_str_mv 2019-09-01
dc.type.driver.fl_str_mv info:eu-repo/semantics/report
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
format report
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1677-55382019000501064
url http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1677-55382019000501064
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 10.1590/s1677-5538.ibju.2018.0808
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 Sociedade Brasileira de Urologia
publisher.none.fl_str_mv Sociedade Brasileira de Urologia
dc.source.none.fl_str_mv International braz j urol v.45 n.5 2019
reponame:International Braz J Urol (Online)
instname:Sociedade Brasileira de Urologia (SBU)
instacron:SBU
instname_str Sociedade Brasileira de Urologia (SBU)
instacron_str SBU
institution SBU
reponame_str International Braz J Urol (Online)
collection International Braz J Urol (Online)
repository.name.fl_str_mv International Braz J Urol (Online) - Sociedade Brasileira de Urologia (SBU)
repository.mail.fl_str_mv ||brazjurol@brazjurol.com.br
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