Clinical and Cytogenetic Analysis of a Case of SRY-Negative XX Testicular Disorder of Sex Development

Análisis clínico y citogenético de un caso de trastorno del desarrollo sexual testicular XX con SRY negativo;
Análise clínica e citogenética de um caso de transtorno do desenvolvimento sexual testicular XX com SRY-negativo

dc.creatorSalgado, Perla Cristina
dc.creatorRamírez, Adriana del Pilar
dc.creatorGallo Orjuela, Diana Marcela
dc.creatorGarzón, Carlos Alberto
dc.creatorLadino, Yaqueline
dc.creatorBeltrán, Orietta Ivonne
dc.date2020-05-15
dc.date.accessioned2022-12-15T18:29:10Z
dc.date.available2022-12-15T18:29:10Z
dc.identifierhttps://revistas.unimilitar.edu.co/index.php/rmed/article/view/4753
dc.identifier10.18359/rmed.4753
dc.identifier.urihttps://repositorioslatinoamericanos.uchile.cl/handle/2250/5357485
dc.descriptionXX testicular disorder of sex development (DSD) is a pathology that occurs in an individual with a 46,XX karyotype and an anatomical phenotype of male external genitalia, which may vary from normal to ambiguous. Clinically, two subgroups of SRY-negative and SRY-positive, 46,XX men have been described, depending on the presence of the SRY gene that is normally found on the chromosome participating in testicular determination. This article describes the personal history and clinical findings of an infant with urethral meatus abnormalities in whom a 46,XX chromosome set was identified. Also, fluorescent in situ hybridization was performed in peripheral blood lymphocytes which demonstrated the absence of the SRY gene and confirmed the presence of two X chromosomes. en-US
dc.descriptionEl trastorno del desarrollo sexual (tds) testicular XX es una patología que se presenta en un individuo con cariotipo 46,XX con un fenotipo anatómico de genitales externos masculinos, que pueden variar desde la normalidad hasta la ambigüedad genital. Clínicamente se han descrito dos subgrupos de hombres 46,XX con SRY-negativos y SRY-positivos, dependiendo de la presencia o no del gen SRY que normalmente se encuentra en cromosoma y participando en la determinación testicular. En este artículo se describen los antecedentes personales y los hallazgos clínicos de un infante con anomalías de meato urinario en el cual se identificó un complemento cromosómico 46,XX. También, se realizó hibridación in situ fluorescente en linfocitos de sangre periférica que demostró la ausencia del gen SRY y confirmó la presencia de dos cromosomas X.es-ES
dc.descriptionO transtorno do desenvolvimento sexual (TDS) testicular XX é uma patologia apresentada em um indivíduo com cariótipo 46,XX com um fenótipo anatômico de genitais externos masculinos, que podem variar da normalidade à ambiguidade genital. Clinicamente, são descritos dois subgrupos de homens 46,XX com SRY-negativos e SRY-positivos, dependendo da presença ou não do gene SRY que normalmente se encontra em cromossomo e participando da determinação testicular. Neste artigo, são descritos os antecedentes pessoais e os achados clínicos de uma criança com anomalias de meato urinário em que foi identificado um complemento cromossômico 46,XX. Além disso, foi realizada hibridação in situ fluorescente em linfócitos de sangue periférico que demonstrou a ausência do gene SRY e confirmou a presença de dois cromossomos X.pt-BR
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dc.languagespa
dc.publisherUniversidad Militar Nueva Granadaes-ES
dc.relationhttps://revistas.unimilitar.edu.co/index.php/rmed/article/view/4753/3935
dc.relationhttps://revistas.unimilitar.edu.co/index.php/rmed/article/view/4753/4102
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dc.rightsDerechos de autor 2020 Revista Medes-ES
dc.rightshttp://creativecommons.org/licenses/by-nc-nd/4.0es-ES
dc.sourceRevista Med; Vol. 27 No. 1 (2019): january - june; 45-52en-US
dc.sourceRevista Med; Vol. 27 Núm. 1 (2019): enero - junio; 45-52es-ES
dc.source1909-7700
dc.source0121-5256
dc.titleClinical and Cytogenetic Analysis of a Case of SRY-Negative XX Testicular Disorder of Sex Developmenten-US
dc.titleAnálisis clínico y citogenético de un caso de trastorno del desarrollo sexual testicular XX con SRY negativoes-ES
dc.titleAnálise clínica e citogenética de um caso de transtorno do desenvolvimento sexual testicular XX com SRY-negativopt-BR
dc.typeinfo:eu-repo/semantics/article
dc.typeinfo:eu-repo/semantics/publishedVersion


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