46,XX Male – Testicular Disorder of Sexual Differentiation (DSD): hormonal, molecular and cytogenetic studies

Detalhes bibliográficos
Autor(a) principal: Alves, Crésio de Aragão Dantas
Data de Publicação: 2010
Outros Autores: Braid, Zilda, Coeli, Fernanda Borchers, Mello, Maricilda Palandi de
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Institucional da UFBA
Texto Completo: http://www.repositorio.ufba.br/ri/handle/ri/6108
Resumo: p.685-689
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spelling Alves, Crésio de Aragão DantasBraid, ZildaCoeli, Fernanda BorchersMello, Maricilda Palandi deAlves, Crésio de Aragão DantasBraid, ZildaCoeli, Fernanda BorchersMello, Maricilda Palandi de2012-06-11T20:35:43Z2012-06-11T20:35:43Z2010-110004-2730http://www.repositorio.ufba.br/ri/handle/ri/6108v. 54, n. 8p.685-689The XX male syndrome – Testicular Disorder of Sexual Differentiation (DSD) is a rare condition characterized by a spectrum of clinical presentations, ranging from ambiguous to normal male genitalia. We report hormonal, molecular and cytogenetic evaluations of a boy presenting with this syndrome. Examination of the genitalia at age of 16 months, showed: penis of 3.5 cm, proximal hypospadia and scrotal testes. Pelvic ultrasound did not demonstrate Mullerian duct structures. Karyotype was 46,XX. Gonadotrophin stimulation test yielded insufficient testosterone production. Gonadal biopsy showed seminiferous tubules without evidence of Leydig cells. Molecular studies revealed that SRY and TSPY genes and also DYZ3 sequences were absent. In addition, the lack of deletions or duplications of SOX9, NR5A1, WNT4 and NROB1 regions was verified. The infant was heterozygous for all microsatellites at the 9p region, including DMRT1 gene, investigated. Only 10% of the patients are SRY-negative and usually they have ambiguous genitalia, as the aforementioned patient. The incomplete masculinization suggests gain of function mutation in one or more genes downstream to SRY gene.Submitted by Texeira Ana (atanateixeira@gmail.com) on 2012-06-11T20:35:43Z No. of bitstreams: 1 Alves, Cresio.pdf: 1165021 bytes, checksum: 74a111bed58d16930b705bf3cafed03a (MD5)Made available in DSpace on 2012-06-11T20:35:43Z (GMT). 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dc.title.pt_BR.fl_str_mv 46,XX Male – Testicular Disorder of Sexual Differentiation (DSD): hormonal, molecular and cytogenetic studies
dc.title.alternative.pt_BR.fl_str_mv Arq Bras Endocrinol Metab.
title 46,XX Male – Testicular Disorder of Sexual Differentiation (DSD): hormonal, molecular and cytogenetic studies
spellingShingle 46,XX Male – Testicular Disorder of Sexual Differentiation (DSD): hormonal, molecular and cytogenetic studies
Alves, Crésio de Aragão Dantas
title_short 46,XX Male – Testicular Disorder of Sexual Differentiation (DSD): hormonal, molecular and cytogenetic studies
title_full 46,XX Male – Testicular Disorder of Sexual Differentiation (DSD): hormonal, molecular and cytogenetic studies
title_fullStr 46,XX Male – Testicular Disorder of Sexual Differentiation (DSD): hormonal, molecular and cytogenetic studies
title_full_unstemmed 46,XX Male – Testicular Disorder of Sexual Differentiation (DSD): hormonal, molecular and cytogenetic studies
title_sort 46,XX Male – Testicular Disorder of Sexual Differentiation (DSD): hormonal, molecular and cytogenetic studies
author Alves, Crésio de Aragão Dantas
author_facet Alves, Crésio de Aragão Dantas
Braid, Zilda
Coeli, Fernanda Borchers
Mello, Maricilda Palandi de
author_role author
author2 Braid, Zilda
Coeli, Fernanda Borchers
Mello, Maricilda Palandi de
author2_role author
author
author
dc.contributor.author.fl_str_mv Alves, Crésio de Aragão Dantas
Braid, Zilda
Coeli, Fernanda Borchers
Mello, Maricilda Palandi de
Alves, Crésio de Aragão Dantas
Braid, Zilda
Coeli, Fernanda Borchers
Mello, Maricilda Palandi de
description p.685-689
publishDate 2010
dc.date.issued.fl_str_mv 2010-11
dc.date.accessioned.fl_str_mv 2012-06-11T20:35:43Z
dc.date.available.fl_str_mv 2012-06-11T20:35:43Z
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
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dc.identifier.uri.fl_str_mv http://www.repositorio.ufba.br/ri/handle/ri/6108
dc.identifier.issn.none.fl_str_mv 0004-2730
dc.identifier.number.pt_BR.fl_str_mv v. 54, n. 8
identifier_str_mv 0004-2730
v. 54, n. 8
url http://www.repositorio.ufba.br/ri/handle/ri/6108
dc.language.iso.fl_str_mv eng
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dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.publisher.none.fl_str_mv ABE&M
publisher.none.fl_str_mv ABE&M
dc.source.pt_BR.fl_str_mv http://dx.doi.org/10.1590/S0004-27302010000800004
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