Y chromosome aberration in a patient with cloacal-bladder exstrophy-epispadias complex: an unusual finding
Autor(a) principal: | |
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Data de Publicação: | 2013 |
Outros Autores: | , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Arquivos Brasileiros de Endocrinologia & Metabologia (Online) |
Texto Completo: | http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-27302013000200009 |
Resumo: | Chromosome aberrations or genetic syndromes associated with cloacal-bladder exstrophy complex have rarely been reported. The aim of this report is to describe a 14 year-old female Brazilian patient with a complex urogenital malformation, short stature, lack of secondary sexual characteristics and Y chromosome aberration. A girl with cloacal bladder exstrophy complex was referred for evaluation of short stature and absence of secondary sexual characteristics. Pre-pubertal levels of gonadotropins and sex steroids were observed at the beginning of monitoring, but follow-up showed a progressive increase in testosterone levels. The patient underwent gonadectomy and testicular tissue was identified without dysgenetic characteristics. She had a 46,X,inv(Y)(p11.1q11.2) karyotype, normal SRY sequence, and no Y deletions. The pericentric inversion of Y chromosome apparently did not contribute to the development of the complex urogenital malformation in this patient. Currently, no teratogenic agent, environmental factor, or defective genes have been recognized as etiologic factors for this type of urogenital malformation. |
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Y chromosome aberration in a patient with cloacal-bladder exstrophy-epispadias complex: an unusual findingChromosome aberrations or genetic syndromes associated with cloacal-bladder exstrophy complex have rarely been reported. The aim of this report is to describe a 14 year-old female Brazilian patient with a complex urogenital malformation, short stature, lack of secondary sexual characteristics and Y chromosome aberration. A girl with cloacal bladder exstrophy complex was referred for evaluation of short stature and absence of secondary sexual characteristics. Pre-pubertal levels of gonadotropins and sex steroids were observed at the beginning of monitoring, but follow-up showed a progressive increase in testosterone levels. The patient underwent gonadectomy and testicular tissue was identified without dysgenetic characteristics. She had a 46,X,inv(Y)(p11.1q11.2) karyotype, normal SRY sequence, and no Y deletions. The pericentric inversion of Y chromosome apparently did not contribute to the development of the complex urogenital malformation in this patient. Currently, no teratogenic agent, environmental factor, or defective genes have been recognized as etiologic factors for this type of urogenital malformation.Sociedade Brasileira de Endocrinologia e Metabologia2013-03-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-27302013000200009Arquivos Brasileiros de Endocrinologia & Metabologia v.57 n.2 2013reponame:Arquivos Brasileiros de Endocrinologia & Metabologia (Online)instname:Sociedade Brasileira de Endocrinologia e Metabologia (SBEM)instacron:SBEM10.1590/S0004-27302013000200009info:eu-repo/semantics/openAccessNishi,Mirian YumieMartins,Thais CotrimCosta,Elaine Maria FradeMendonca,Berenice BilharinhoGiron,Amilcar MartinsDomenice,Sorahiaeng2013-03-19T00:00:00Zoai:scielo:S0004-27302013000200009Revistahttps://www.aem-sbem.com/ONGhttps://old.scielo.br/oai/scielo-oai.php||abem-editoria@endocrino.org.br1677-94870004-2730opendoar:2013-03-19T00:00Arquivos Brasileiros de Endocrinologia & Metabologia (Online) - Sociedade Brasileira de Endocrinologia e Metabologia (SBEM)false |
dc.title.none.fl_str_mv |
Y chromosome aberration in a patient with cloacal-bladder exstrophy-epispadias complex: an unusual finding |
title |
Y chromosome aberration in a patient with cloacal-bladder exstrophy-epispadias complex: an unusual finding |
spellingShingle |
Y chromosome aberration in a patient with cloacal-bladder exstrophy-epispadias complex: an unusual finding Nishi,Mirian Yumie |
title_short |
Y chromosome aberration in a patient with cloacal-bladder exstrophy-epispadias complex: an unusual finding |
title_full |
Y chromosome aberration in a patient with cloacal-bladder exstrophy-epispadias complex: an unusual finding |
title_fullStr |
Y chromosome aberration in a patient with cloacal-bladder exstrophy-epispadias complex: an unusual finding |
title_full_unstemmed |
Y chromosome aberration in a patient with cloacal-bladder exstrophy-epispadias complex: an unusual finding |
title_sort |
Y chromosome aberration in a patient with cloacal-bladder exstrophy-epispadias complex: an unusual finding |
author |
Nishi,Mirian Yumie |
author_facet |
Nishi,Mirian Yumie Martins,Thais Cotrim Costa,Elaine Maria Frade Mendonca,Berenice Bilharinho Giron,Amilcar Martins Domenice,Sorahia |
author_role |
author |
author2 |
Martins,Thais Cotrim Costa,Elaine Maria Frade Mendonca,Berenice Bilharinho Giron,Amilcar Martins Domenice,Sorahia |
author2_role |
author author author author author |
dc.contributor.author.fl_str_mv |
Nishi,Mirian Yumie Martins,Thais Cotrim Costa,Elaine Maria Frade Mendonca,Berenice Bilharinho Giron,Amilcar Martins Domenice,Sorahia |
description |
Chromosome aberrations or genetic syndromes associated with cloacal-bladder exstrophy complex have rarely been reported. The aim of this report is to describe a 14 year-old female Brazilian patient with a complex urogenital malformation, short stature, lack of secondary sexual characteristics and Y chromosome aberration. A girl with cloacal bladder exstrophy complex was referred for evaluation of short stature and absence of secondary sexual characteristics. Pre-pubertal levels of gonadotropins and sex steroids were observed at the beginning of monitoring, but follow-up showed a progressive increase in testosterone levels. The patient underwent gonadectomy and testicular tissue was identified without dysgenetic characteristics. She had a 46,X,inv(Y)(p11.1q11.2) karyotype, normal SRY sequence, and no Y deletions. The pericentric inversion of Y chromosome apparently did not contribute to the development of the complex urogenital malformation in this patient. Currently, no teratogenic agent, environmental factor, or defective genes have been recognized as etiologic factors for this type of urogenital malformation. |
publishDate |
2013 |
dc.date.none.fl_str_mv |
2013-03-01 |
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=S0004-27302013000200009 |
url |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-27302013000200009 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
10.1590/S0004-27302013000200009 |
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 Endocrinologia e Metabologia |
publisher.none.fl_str_mv |
Sociedade Brasileira de Endocrinologia e Metabologia |
dc.source.none.fl_str_mv |
Arquivos Brasileiros de Endocrinologia & Metabologia v.57 n.2 2013 reponame:Arquivos Brasileiros de Endocrinologia & Metabologia (Online) instname:Sociedade Brasileira de Endocrinologia e Metabologia (SBEM) instacron:SBEM |
instname_str |
Sociedade Brasileira de Endocrinologia e Metabologia (SBEM) |
instacron_str |
SBEM |
institution |
SBEM |
reponame_str |
Arquivos Brasileiros de Endocrinologia & Metabologia (Online) |
collection |
Arquivos Brasileiros de Endocrinologia & Metabologia (Online) |
repository.name.fl_str_mv |
Arquivos Brasileiros de Endocrinologia & Metabologia (Online) - Sociedade Brasileira de Endocrinologia e Metabologia (SBEM) |
repository.mail.fl_str_mv |
||abem-editoria@endocrino.org.br |
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1754734812239757312 |