Clinical profile of 93 cases of 46, XY disorders of sexual development in a referral center
Autor(a) principal: | |
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Data de Publicação: | 2015 |
Outros Autores: | , , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | International Braz J Urol (Online) |
Texto Completo: | http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1677-55382015000500975 |
Resumo: | ABSTRACT The term DSD refers to disorders that affect the normal process of sexual development causing disagreement between chromosomal, gonadal and phenotypic sex, and this study aimed to describe the clinical profile of a group with DSD 46, XY joined on DSD Clinic of Hospital of Salvador, Bahia Clinics. It was a retrospective study of medical records of survey data of 93 patients with DSD 46, XY. Among the patients studied 50.5% had no defined etiology and 20.4% had androgen insensitivity syndrome (AIS), 63.4% had been initially recorded in males, 31 (33.3%) in females, being that in two it was necessary to reassignment. All patients with complete AIS pure gonadal dysgenesis and had female genitalia. Others have been diagnosed with genital ambiguity or severe hypospadias and cryptorchidism. The gonads were palpable at the first consultation in 75.3% of patients. It is important to establish an active surveillance program for these patients. The first assessment took place before the age of ten in more than 50% of cases, which shows that much needs to be done for medical education and community about the DSD. Because the phenotypic variability of sexual development disorders was noted that the clinical profile of patients studied ranged between different etiologies, including hindering the diagnostic conclusion of these individuals. |
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Clinical profile of 93 cases of 46, XY disorders of sexual development in a referral centerEpidemiologyEndocrinologyPediatricsCryptorchidismABSTRACT The term DSD refers to disorders that affect the normal process of sexual development causing disagreement between chromosomal, gonadal and phenotypic sex, and this study aimed to describe the clinical profile of a group with DSD 46, XY joined on DSD Clinic of Hospital of Salvador, Bahia Clinics. It was a retrospective study of medical records of survey data of 93 patients with DSD 46, XY. Among the patients studied 50.5% had no defined etiology and 20.4% had androgen insensitivity syndrome (AIS), 63.4% had been initially recorded in males, 31 (33.3%) in females, being that in two it was necessary to reassignment. All patients with complete AIS pure gonadal dysgenesis and had female genitalia. Others have been diagnosed with genital ambiguity or severe hypospadias and cryptorchidism. The gonads were palpable at the first consultation in 75.3% of patients. It is important to establish an active surveillance program for these patients. The first assessment took place before the age of ten in more than 50% of cases, which shows that much needs to be done for medical education and community about the DSD. Because the phenotypic variability of sexual development disorders was noted that the clinical profile of patients studied ranged between different etiologies, including hindering the diagnostic conclusion of these individuals.Sociedade Brasileira de Urologia2015-10-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S1677-55382015000500975International braz j urol v.41 n.5 2015reponame:International Braz J Urol (Online)instname:Sociedade Brasileira de Urologia (SBU)instacron:SBU10.1590/S1677-5538.IBJU.2014.0544info:eu-repo/semantics/openAccessMota,Bianca CostaOliveira,Luciana Mattos BarrosLago,RenataBrito,PaulaCanguçú-Campinho,Ana KarinaBarroso,UbirajaraToralles,Maria Betânia Pereiraeng2015-11-27T00:00:00Zoai:scielo:S1677-55382015000500975Revistahttp://www.brazjurol.com.br/ONGhttps://old.scielo.br/oai/scielo-oai.php||brazjurol@brazjurol.com.br1677-61191677-5538opendoar:2015-11-27T00:00International Braz J Urol (Online) - Sociedade Brasileira de Urologia (SBU)false |
dc.title.none.fl_str_mv |
Clinical profile of 93 cases of 46, XY disorders of sexual development in a referral center |
title |
Clinical profile of 93 cases of 46, XY disorders of sexual development in a referral center |
spellingShingle |
Clinical profile of 93 cases of 46, XY disorders of sexual development in a referral center Mota,Bianca Costa Epidemiology Endocrinology Pediatrics Cryptorchidism |
title_short |
Clinical profile of 93 cases of 46, XY disorders of sexual development in a referral center |
title_full |
Clinical profile of 93 cases of 46, XY disorders of sexual development in a referral center |
title_fullStr |
Clinical profile of 93 cases of 46, XY disorders of sexual development in a referral center |
title_full_unstemmed |
Clinical profile of 93 cases of 46, XY disorders of sexual development in a referral center |
title_sort |
Clinical profile of 93 cases of 46, XY disorders of sexual development in a referral center |
author |
Mota,Bianca Costa |
author_facet |
Mota,Bianca Costa Oliveira,Luciana Mattos Barros Lago,Renata Brito,Paula Canguçú-Campinho,Ana Karina Barroso,Ubirajara Toralles,Maria Betânia Pereira |
author_role |
author |
author2 |
Oliveira,Luciana Mattos Barros Lago,Renata Brito,Paula Canguçú-Campinho,Ana Karina Barroso,Ubirajara Toralles,Maria Betânia Pereira |
author2_role |
author author author author author author |
dc.contributor.author.fl_str_mv |
Mota,Bianca Costa Oliveira,Luciana Mattos Barros Lago,Renata Brito,Paula Canguçú-Campinho,Ana Karina Barroso,Ubirajara Toralles,Maria Betânia Pereira |
dc.subject.por.fl_str_mv |
Epidemiology Endocrinology Pediatrics Cryptorchidism |
topic |
Epidemiology Endocrinology Pediatrics Cryptorchidism |
description |
ABSTRACT The term DSD refers to disorders that affect the normal process of sexual development causing disagreement between chromosomal, gonadal and phenotypic sex, and this study aimed to describe the clinical profile of a group with DSD 46, XY joined on DSD Clinic of Hospital of Salvador, Bahia Clinics. It was a retrospective study of medical records of survey data of 93 patients with DSD 46, XY. Among the patients studied 50.5% had no defined etiology and 20.4% had androgen insensitivity syndrome (AIS), 63.4% had been initially recorded in males, 31 (33.3%) in females, being that in two it was necessary to reassignment. All patients with complete AIS pure gonadal dysgenesis and had female genitalia. Others have been diagnosed with genital ambiguity or severe hypospadias and cryptorchidism. The gonads were palpable at the first consultation in 75.3% of patients. It is important to establish an active surveillance program for these patients. The first assessment took place before the age of ten in more than 50% of cases, which shows that much needs to be done for medical education and community about the DSD. Because the phenotypic variability of sexual development disorders was noted that the clinical profile of patients studied ranged between different etiologies, including hindering the diagnostic conclusion of these individuals. |
publishDate |
2015 |
dc.date.none.fl_str_mv |
2015-10-01 |
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=S1677-55382015000500975 |
url |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1677-55382015000500975 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
10.1590/S1677-5538.IBJU.2014.0544 |
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.41 n.5 2015 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 |
_version_ |
1750318074495500288 |