<?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>1657-9534</journal-id>
<journal-title><![CDATA[Colombia Médica]]></journal-title>
<abbrev-journal-title><![CDATA[Colomb. Med.]]></abbrev-journal-title>
<issn>1657-9534</issn>
<publisher>
<publisher-name><![CDATA[Universidad del Valle]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S1657-95342016000300172</article-id>
<title-group>
<article-title xml:lang="en"><![CDATA[Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency: description of a new mutation, R384X]]></article-title>
<article-title xml:lang="es"><![CDATA[Hiperplasia suprarrenal congénita por déficit de 11-beta-hidroxilasa: descripción de una nueva mutación, R384X]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Matallana-Rhoades]]></surname>
<given-names><![CDATA[Audrey Mary]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
<xref ref-type="aff" rid="Aaf"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Corredor-Castro]]></surname>
<given-names><![CDATA[Juan David]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Bonilla-Escobar]]></surname>
<given-names><![CDATA[Francisco Javier]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
<xref ref-type="aff" rid="Aaf"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Mecias-Cruz]]></surname>
<given-names><![CDATA[Bony Valentina]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Beldjena]]></surname>
<given-names><![CDATA[Liliana Mejia de]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
<xref ref-type="aff" rid="Aaf"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Universidad del Valle  ]]></institution>
<addr-line><![CDATA[Cali ]]></addr-line>
<country>Colombia</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Hospital Universitario del Valle  ]]></institution>
<addr-line><![CDATA[Cali ]]></addr-line>
<country>Colombia</country>
</aff>
<aff id="Af3">
<institution><![CDATA[,Universidad del Valle Instituto Cisalva ]]></institution>
<addr-line><![CDATA[Cali ]]></addr-line>
<country>Colombia</country>
</aff>
<aff id="Af4">
<institution><![CDATA[,Fundación SCISCO  ]]></institution>
<addr-line><![CDATA[Cali ]]></addr-line>
<country>Colombia</country>
</aff>
<aff id="Af5">
<institution><![CDATA[,Fundación Clínica Valle del Lili  ]]></institution>
<addr-line><![CDATA[Cali ]]></addr-line>
<country>Colombia</country>
</aff>
<aff id="Af6">
<institution><![CDATA[,Fundación Clínica Infantil Club Noel  ]]></institution>
<addr-line><![CDATA[Cali ]]></addr-line>
<country>Colombia</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>09</month>
<year>2016</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>09</month>
<year>2016</year>
</pub-date>
<volume>47</volume>
<numero>3</numero>
<fpage>172</fpage>
<lpage>175</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://www.scielo.org.co/scielo.php?script=sci_arttext&amp;pid=S1657-95342016000300172&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.co/scielo.php?script=sci_abstract&amp;pid=S1657-95342016000300172&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.co/scielo.php?script=sci_pdf&amp;pid=S1657-95342016000300172&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="en"><p><![CDATA[Abstract  Case Description:  It is presented the phenotype of a new compound heterozygous mutation of the genes R384X and Q356X encoding the enzyme of 11-beta-hydroxylase  Clinical Findings:  Severe virilization, peripheral hypertension, and early puberty.  Treatment and Outcome:  Managed with hormone replacement therapy (corticosteroid) and antihypertensive therapy (beta-blocker), resulting in the control of physical changes and levels of arterial tension.  Clinical Relevance:  According to the phenotypic characteristics of the patient, it is inferred that the R384X mutation carries an additional burden on the Q356X mutation, with the latter previously described as a cause of 11-beta-hydroxylase deficiency. The description of a new genotype, as in this case, expands the understanding of the hereditary burden and deciphers the various factors that lead to this pathology as well as the other forms of congenital adrenal hyperplasia (CAH), presenting with a broad spectrum of clinical presentations. This study highlights the importance of a complete description of the patient's CAH genetic profile as well as their parents' genetic profile.]]></p></abstract>
<abstract abstract-type="short" xml:lang="es"><p><![CDATA[Resumen  Descripción del Caso:  Se presenta el fenotipo de una nueva mutación heterocigota compuesta en los genes Q356X y R384X que codifican la enzima 11-beta-hidroxilada  Hallazgos Clínicos: Virilización severa, pubertad precoz periférica e hipertensión.  Tratamiento y Resultados: Manejo con terapia de reemplazo hormonal con corticoide y antihipertensivo con beta-bloqueador con lo que se logró controlar los cambios físicos y los niveles de tensión arterial.  Relevancia Clínica: Según las características fenotípicas del paciente se infiere que la mutación R384X acarrea una carga adicional a la mutación Q356X, esta última descrita como causa de deficiencia de 11-beta-hidroxilasa. La descripción de nuevos genotipos, como en este caso, permite ampliar la comprensión de la carga hereditaria y descifrar los diversos factores que llevan a que esta patología, así como las demás formas de hiperplasia suprarrenal congénita (HSC), se presenten con un amplio espectro de cuadros clínicos. Esto permite resaltar la importancia de una descripción completa del perfil genético del paciente con HSC y de sus padres.]]></p></abstract>
<kwd-group>
<kwd lng="en"><![CDATA[Adrenal hyperplasia congenital]]></kwd>
<kwd lng="en"><![CDATA[hyperplasia adrenal glands]]></kwd>
<kwd lng="en"><![CDATA[mutation]]></kwd>
<kwd lng="en"><![CDATA[adrenocorticotropic hormone, Virilism, 11-beta-hydroxylase deficiency]]></kwd>
<kwd lng="es"><![CDATA[Hiperplasia suprarrenal congénita]]></kwd>
<kwd lng="es"><![CDATA[hiperplasia suprarrenal]]></kwd>
<kwd lng="es"><![CDATA[mutación]]></kwd>
<kwd lng="es"><![CDATA[hormona adrenocorticotropica, virilismo, 11-beta-hidroxilasa]]></kwd>
</kwd-group>
</article-meta>
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