<?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>S2007-40852021000400006</article-id>
<article-id pub-id-type="doi">10.48193/rmu.v81i4.800</article-id>
<title-group>
<article-title xml:lang="en"><![CDATA[Disorders of sexual development in 46,XX individuals: an update]]></article-title>
<article-title xml:lang="es"><![CDATA[Trastornos del desarrollo sexual en individuos 46,XX: una actualización]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Guerra]]></surname>
<given-names><![CDATA[Mariana]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Céspedes]]></surname>
<given-names><![CDATA[Camila]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
<xref ref-type="aff" rid="Aaf"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Forero]]></surname>
<given-names><![CDATA[Catalina]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
<xref ref-type="aff" rid="Aaf"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Suárez-Oblando]]></surname>
<given-names><![CDATA[Fernando]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
<xref ref-type="aff" rid="Aaf"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Rojas]]></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 Institute of Human Genetics School of Medicine]]></institution>
<addr-line><![CDATA[Bogotá ]]></addr-line>
<country>Colombia</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Pontificia Universidad Javeriana School of Medicine ]]></institution>
<addr-line><![CDATA[Bogotá ]]></addr-line>
<country>Colombia</country>
</aff>
<aff id="Af3">
<institution><![CDATA[,Hospital Universitario San Ignacio  ]]></institution>
<addr-line><![CDATA[Bogotá ]]></addr-line>
<country>Colombia</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>08</month>
<year>2021</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>08</month>
<year>2021</year>
</pub-date>
<volume>81</volume>
<numero>4</numero>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_arttext&amp;pid=S2007-40852021000400006&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_abstract&amp;pid=S2007-40852021000400006&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_pdf&amp;pid=S2007-40852021000400006&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="en"><p><![CDATA[Abstract Disruption of the processes of sexual determination or sexual differentiation by any genetic or environmental factor may result in a disorder of sexual development (DSD) with discordance among chromosomal, gonadal, and anatomical sex.  Materials and methods:  In order to update concepts related to DSD with 46,XX karyotype without numeric or structural abnormalities, a search of information was carried out for the last 10 years in which three subcategories are described: Disorders of gonadal (ovarian) development, Disorders related to androgenic excess and other abnormalities (vaginal atresia, cloacal exstrophy, uterine abnormalities and labial adhesions).  Conclusion:  The great variability of phenotypical manifestations in this kind of DSD may create confusion in diagnostic approaches guided by clinical findings. This presentation variability, paired with a lack of knowledge of the pathophysiology, can contribute to delayed or non-conclusive diagnoses. For these reasons, deepening the knowledge of the causes and clinical manifestations of this class of clinical conditions will result in the well-being of the patient and his family.]]></p></abstract>
<abstract abstract-type="short" xml:lang="es"><p><![CDATA[Resumen La interrupción de los procesos de determinación o diferenciación sexual por cualquier factor genético o ambiental puede resultar en un trastorno del desarrollo sexual (TDS) con discordancia entre el sexo cromosómico, gonadal y anatómico. Dicha discordancia tendrá diferentes expresiones en el fenotipo, incluidas anomalías en los genitales internos y/o genitales externos.  Material y métodos:  Con la finalidad de actualizar conceptos relacionados con TDS con cariotipo 46,XX sin alteraciones numéricas o estructurales, se realizó una búsqueda de información de los últimos 10 años en los que se describen tres subcategorías: trastornos del desarrollo gonadal (ovárico), trastornos relacionados con el exceso androgénico y otras anomalías (atresia vaginal, extrofia cloacal, anomalías uterinas y adherencias labiales).  Conclusión:  La gran variabilidad de las manifestaciones fenotípicas en este tipo de TDS puede crear confusión en los enfoques diagnósticos guiados por los hallazgos clínicos. Esta variabilidad de presentación, junto con la falta de conocimiento de la fisiopatología, puede contribuir a diagnósticos tardíos o no concluyentes. Por estas razones, profundizar en el conocimiento de las causas y manifestaciones clínicas redundará en el bienestar del paciente y su familia.]]></p></abstract>
<kwd-group>
<kwd lng="en"><![CDATA[46,XX]]></kwd>
<kwd lng="en"><![CDATA[disorders of sexual development-DDS]]></kwd>
<kwd lng="en"><![CDATA[disorders of gonadal (ovarian) development]]></kwd>
<kwd lng="en"><![CDATA[FISH]]></kwd>
<kwd lng="en"><![CDATA[SRY]]></kwd>
<kwd lng="en"><![CDATA[SOX9]]></kwd>
<kwd lng="es"><![CDATA[46,XX]]></kwd>
<kwd lng="es"><![CDATA[trastorno del desarrollo sexual-TDS]]></kwd>
<kwd lng="es"><![CDATA[trastornos del desarrollo gonadal (ovárico)]]></kwd>
<kwd lng="es"><![CDATA[FISH]]></kwd>
<kwd lng="es"><![CDATA[SRY]]></kwd>
<kwd lng="es"><![CDATA[SOX9]]></kwd>
</kwd-group>
</article-meta>
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