<?xml version="1.0" encoding="ISO-8859-1"?><article xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:xlink="http://www.w3.org/1999/xlink" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance">
<front>
<journal-meta>
<journal-id>2007-4085</journal-id>
<journal-title><![CDATA[Revista mexicana de urología]]></journal-title>
<abbrev-journal-title><![CDATA[Rev. mex. urol.]]></abbrev-journal-title>
<issn>2007-4085</issn>
<publisher>
<publisher-name><![CDATA[Sociedad Mexicana de Urología]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S2007-40852022000400005</article-id>
<article-id pub-id-type="doi">10.48193/revistamexicanadeurologa.v82i4.910</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Trastornos del desarrollo sexual asociados a los cromosomas sexuales: Una actualización]]></article-title>
<article-title xml:lang="en"><![CDATA[Disorders of sexual development associated with sex chromosomes: an update]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Santamaria-Durán]]></surname>
<given-names><![CDATA[Natalia]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Suárez-Obando]]></surname>
<given-names><![CDATA[Fernando]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Rojas-Moreno]]></surname>
<given-names><![CDATA[Adriana]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Pontificia Universidad Javeriana  ]]></institution>
<addr-line><![CDATA[Bogotá ]]></addr-line>
<country>Colombia</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>08</month>
<year>2022</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>08</month>
<year>2022</year>
</pub-date>
<volume>82</volume>
<numero>4</numero>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_arttext&amp;pid=S2007-40852022000400005&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_abstract&amp;pid=S2007-40852022000400005&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_pdf&amp;pid=S2007-40852022000400005&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[Resumen  Descripción: los trastornos del desarrollo sexual (DSD, disorders of sex development) son condiciones congénitas que se caracterizan por la discordancia entre la apariencia externa (masculinidad o feminidad) y la constitución cromosómica o sexo gonadal. Estas manifestaciones están relacionadas con alteraciones a nivel del desarrollo gonadal y del tracto urinario-genital e incluso del sistema reproductivo-endocrino. Dentro de las causas de estas se encuentran las genéticas, las cuales son provocadas por anomalías cromosómicas, en particular de los cromosomas sexuales, o por alteración de genes involucrados con el desarrollo embrionario de los órganos sexuales; como también, anomalías que generen la interrupción de la síntesis de hormonas específicas.  Relevancia: en el grupo de trastornos del desarrollo sexual ligado a alteraciones en el número de cromosomas se encuentran el síndrome de Klinefelter (47,XXY) (SK) y el síndrome de Turner (45,X) (ST). Reportes en la literatura mencionan que las aneuploidias de los cromosomas sexuales impactan directamente en los genes, factores transcripcionales y mecanismos epigenéticos que afectan la expresión génica.  Conclusiones: en la literatura, son escasos los estudios moleculares comparativos entre pacientes con síndrome de Turner (ST) o Klinefelter (SK), siendo estos fundamentales para comprender los procesos génicos que están relacionados con el desarrollo de las patologías de estos pacientes, y así contribuir al mejoramiento del diagnóstico, tratamiento y asesoría médica del paciente con ST ó SK, impactando directamente en la calidad de vida de estos. En este artículo se presenta una revisión bibliográfica actualizada de los trastornos del desarrollo sexual asociados a los cromosomas sexuales, específicamente del ST y SK.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[Abstract  Description: Disorders of Sex Development (DSD) are congenital conditions characterized by a mismatch between external appearance (masculinity or femininity) and chromosomal constitution or gonadal sex. These manifestations are related to alterations at the level of gonadal development and the urinary-genital tract, and even the reproductive-endocrine system. Among the causes of said manifestations are those of genetic origin, which are caused by chromosomal abnormalities, particularly of the sexual chromosomes, or by the appearance of genes involved in the embryonic development of the sexual organs; as well as by anomalies that generate an interruption of the synthesis of specific hormones.  Relevance: The group of DSD linked to alterations in the number of chromosomes includes the Klinefelter syndrome (47,XXY) (KS), and the Turner syndrome (45,X) (TS). Previous reports mention that sex chromosome aneuploidies directly impact genes, transcriptional factors, and epigenetic mechanisms that delay gene expression.  Conclusions: There are few comparative molecular studies between patients with TS or KS in the literature. These studies are essential to understand the genetic processes that are related to the development of the pathologies of patients with these conditions, and thus, contribute to the improvement of the diagnosis, treatment and medical advice of TS or KS patients, directly impacting their quality of life. This article presents an updated review of DSD associated with sexual chromosomes, specifically TS and KS.]]></p></abstract>
<kwd-group>
<kwd lng="en"><![CDATA[Disorders of Sex Development (DSD)]]></kwd>
<kwd lng="en"><![CDATA[Klinefelter Syndrome (47,XXY) (KS)]]></kwd>
<kwd lng="en"><![CDATA[Turner Syndrome (45,X) (TS)]]></kwd>
<kwd lng="en"><![CDATA[Differentially Expressed Genes]]></kwd>
<kwd lng="es"><![CDATA[trastornos del desarrollo sexual (DSD)]]></kwd>
<kwd lng="es"><![CDATA[síndrome de Klinefelter (47,XXY) (SK)]]></kwd>
<kwd lng="es"><![CDATA[síndrome de Turner (45,X) (ST)]]></kwd>
<kwd lng="es"><![CDATA[genes diferencialmente expresados]]></kwd>
</kwd-group>
</article-meta>
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