Y chromosome aberration in a patient with cloacal-bladder exstrophy-epispadias complex: an unusual finding
dc.contributor | Sistema FMUSP-HC: Faculdade de Medicina da Universidade de São Paulo (FMUSP) e Hospital das Clínicas da FMUSP | |
dc.contributor.author | NISHI, Mirian Yumie | |
dc.contributor.author | MARTINS, Thais Cotrim | |
dc.contributor.author | COSTA, Elaine Maria Frade | |
dc.contributor.author | MENDONCA, Berenice Bilharinho | |
dc.contributor.author | GIRON, Amilcar Martins | |
dc.contributor.author | DOMENICE, Sorahia | |
dc.date.accessioned | 2013-09-23T16:36:06Z | |
dc.date.available | 2013-09-23T16:36:06Z | |
dc.date.issued | 2013 | |
dc.description.abstract | 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. Arq Bras Endocrinol Metab. 2013; 57(2): 148-52 | |
dc.description.abstract | Aberrações cromossômicas ou síndromes genéticas associadas ao complexo extrofia de bexiga e de cloaca e epispadia são raramente relatadas. O objetivo é descrever uma paciente brasileira com 14 anos que apresenta uma malformação urogenital complexa, baixa estatura, ausência de características sexuais secundárias e alteração do cromossomo Y. Uma menina com extrofia de bexiga e de cloaca e epispadia foi encaminhada para avaliação de baixa estatura e ausência de desenvolvimento de características sexuais secundárias. Níveis pré-puberais de gonadotrofinas e esteroides sexuais foram observados no início da avaliação, mas durante o seguimento notou-se um aumento progressivo dos níveis de testosterona. Ela foi submetida à gonadectomia e identificou-se a presença de testículos sem características disgenéticas. O cariótipo era 46,X,inv(Y)(p11.1q11.2), com sequência normal do SRY e ausência de deleções do Y. A inversão pericêntrica do cromossomo Y, aparentemente, não contribuiu para o desenvolvimento da malformação urogenital complexa nessa paciente. Atualmente, nenhum agente teratogênico, fator ambiental ou mutações gênicas foram reconhecidos como fatores etiológicos para essa malformação urogenital. | |
dc.description.index | MEDLINE | |
dc.description.sponsorship | Conselho Nacional de Desenvolvimento Cientifico e Tecnologico (CNPq) [305743/2011-2] | |
dc.identifier.citation | ARQUIVOS BRASILEIROS DE ENDOCRINOLOGIA E METABOLOGIA, v.57, n.2, p.148-152, 2013 | |
dc.identifier.doi | 10.1590/S0004-27302013000200009 | |
dc.identifier.issn | 0004-2730 | |
dc.identifier.uri | https://observatorio.fm.usp.br/handle/OPI/1756 | |
dc.language.iso | eng | |
dc.publisher | SBEM-SOC BRASIL ENDOCRINOLOGIA & METABOLOGIA | |
dc.relation.ispartof | Arquivos Brasileiros de Endocrinologia e Metabologia | |
dc.rights | openAccess | |
dc.rights.holder | Copyright SBEM-SOC BRASIL ENDOCRINOLOGIA & METABOLOGIA | |
dc.subject.other | of-the-literature | |
dc.subject.other | pericentric-inversion | |
dc.subject.other | families | |
dc.subject.other | defects | |
dc.subject.other | gene | |
dc.subject.wos | Endocrinology & Metabolism | |
dc.title | Y chromosome aberration in a patient with cloacal-bladder exstrophy-epispadias complex: an unusual finding | |
dc.title.alternative | Aberração cromossômica do Y em uma paciente com extrofia de bexiga e de cloaca e epispadia: um achado raro | |
dc.type | article | |
dc.type.category | original article | |
dc.type.version | publishedVersion | |
dspace.entity.type | Publication | |
hcfmusp.author.external | MARTINS, Thais Cotrim:Univ Sao Paulo HC FMUSP, Hosp Clin, Lab Hormonios & Genet Mol LIM 42, Fac Med,Unidade Endocrinol Desenvolvimento, Sao Paulo, Brazil | |
hcfmusp.citation.scopus | 0 | |
hcfmusp.contributor.author-fmusphc | MIRIAN YUMIE NISHI | |
hcfmusp.contributor.author-fmusphc | ELAINE MARIA FRADE COSTA | |
hcfmusp.contributor.author-fmusphc | BERENICE BILHARINHO DE MENDONCA | |
hcfmusp.contributor.author-fmusphc | AMILCAR MARTINS GIRON | |
hcfmusp.contributor.author-fmusphc | SORAHIA DOMENICE | |
hcfmusp.description.beginpage | 148 | |
hcfmusp.description.endpage | 152 | |
hcfmusp.description.issue | 2 | |
hcfmusp.description.volume | 57 | |
hcfmusp.origem | WOS | |
hcfmusp.origem.pubmed | 23525294 | |
hcfmusp.origem.scielo | SCIELO:S0004-27302013000200009 | |
hcfmusp.origem.scopus | 2-s2.0-84875445484 | |
hcfmusp.origem.wos | WOS:000316763000009 | |
hcfmusp.publisher.city | RIO DE JANEIRO, RJ | |
hcfmusp.publisher.country | BRAZIL | |
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hcfmusp.remissive.sponsorship | CNPq | |
hcfmusp.scopus.lastupdate | 2024-04-12 | |
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