Y chromosome aberration in a patient with cloacal-bladder exstrophy-epispadias complex: an unusual finding

Detalhes bibliográficos
Autor(a) principal: Nishi,Mirian Yumie
Data de Publicação: 2013
Outros Autores: Martins,Thais Cotrim, Costa,Elaine Maria Frade, Mendonca,Berenice Bilharinho, Giron,Amilcar Martins, Domenice,Sorahia
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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spelling 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
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dc.identifier.uri.fl_str_mv http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-27302013000200009
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dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 10.1590/S0004-27302013000200009
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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)
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