True Agonadism: Report Of A Case Analyzed With Y-specific Dna Probes.

dc.creatorMaciel-Guerra, A T
dc.creatorFarah, S B
dc.creatorGarmes, H M
dc.creatorPinto Júnior, W
dc.creatorBustorff da Silva, J M
dc.creatorBaptista, M T
dc.creatorMarques-de-Faria, A P
dc.creatorGuerra Júnior, G
dc.creatorde Mello, M P
dc.date1991-Dec
dc.date2015-11-27T12:18:57Z
dc.date2015-11-27T12:18:57Z
dc.date.accessioned2018-03-29T00:52:13Z
dc.date.available2018-03-29T00:52:13Z
dc.identifierAmerican Journal Of Medical Genetics. v. 41, n. 4, p. 444-5, 1991-Dec.
dc.identifier0148-7299
dc.identifier10.1002/ajmg.1320410412
dc.identifierhttp://www.ncbi.nlm.nih.gov/pubmed/1776634
dc.identifierhttp://repositorio.unicamp.br/jspui/handle/REPOSIP/194026
dc.identifier1776634
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/1294259
dc.descriptionWe report on a 5-year-old girl with a male karyotype (46,XY), severe psychomotor and physical retardation, minor anomalies, and female external genitalia with a blindly ending vagina. She has normal adrenal function, prepubertal serum gonadotropin and testosterone levels, which did not rise after hCG stimulation. On abdominal exploration no gonads were found, and only mesonephric and Müllerian remnants. She was HY positive, and no deletion was detected in the Y chromosome using 5 different probes. Although a genetic defect is not excluded, pregnancy complications suggest an environmental insult to the developing testes.
dc.description41
dc.description444-5
dc.languageeng
dc.relationAmerican Journal Of Medical Genetics
dc.relationAm. J. Med. Genet.
dc.rightsfechado
dc.rights
dc.sourcePubMed
dc.subjectChild, Preschool
dc.subjectDna Probes
dc.subjectDisorders Of Sex Development
dc.subjectGenitalia
dc.subjectHumans
dc.subjectMale
dc.subjectPhenotype
dc.subjectTestis
dc.subjectY Chromosome
dc.titleTrue Agonadism: Report Of A Case Analyzed With Y-specific Dna Probes.
dc.typeArtículos de revistas


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