Please use this identifier to cite or link to this item: http://repositorio.unicamp.br/jspui/handle/REPOSIP/194026
Type: Artigo de periódico
Title: True Agonadism: Report Of A Case Analyzed With Y-specific Dna Probes.
Author: Maciel-Guerra, A T
Farah, S B
Garmes, H M
Pinto Júnior, W
Bustorff da Silva, J M
Baptista, M T
Marques-de-Faria, A P
Guerra Júnior, G
de Mello, M P
Abstract: We 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.
Subject: Child, Preschool
Dna Probes
Disorders Of Sex Development
Genitalia
Humans
Male
Phenotype
Testis
Y Chromosome
Rights: fechado
Identifier DOI: 10.1002/ajmg.1320410412
Address: http://www.ncbi.nlm.nih.gov/pubmed/1776634
Date Issue: 1991
Appears in Collections:Artigos e Materiais de Revistas Científicas - Unicamp

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