<?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>0300-9041</journal-id>
<journal-title><![CDATA[Ginecología y obstetricia de México]]></journal-title>
<abbrev-journal-title><![CDATA[Ginecol. obstet. Méx.]]></abbrev-journal-title>
<issn>0300-9041</issn>
<publisher>
<publisher-name><![CDATA[Federación Mexicana de Colegios de Obstetricia y Ginecología A.C.]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S0300-90412023000100008</article-id>
<article-id pub-id-type="doi">10.24245/gom.v91i1.8194</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Síndrome de Frasier: ¿Cómo diagnosticar una enfermedad rara en la consulta de Ginecología? Reporte de caso]]></article-title>
<article-title xml:lang="en"><![CDATA[Frasier Syndrome: How to diagnose a rare disease in a Gynecology consultation? A case report]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Muñoz-Infante]]></surname>
<given-names><![CDATA[Marina]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Pineda-Mateo]]></surname>
<given-names><![CDATA[María]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Gallardo-Martínez]]></surname>
<given-names><![CDATA[Jara]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Hoffner]]></surname>
<given-names><![CDATA[Karolina]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Morales-Bueno]]></surname>
<given-names><![CDATA[Ángela]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Hospital Universitario Virgen Macarena de Sevilla Unidad de Gestión Clínica de Ginecología y Obstetricia ]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
<country>España</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Hospital Universitario Virgen Macarena de Sevilla Centro Hospitalario de Alta Resolución ]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
<country>España</country>
</aff>
<aff id="Af3">
<institution><![CDATA[,Hospital Universitario Virgen Macarena de Sevilla Unidad de Gestión Clínica de Ginecología y Obstetricia ]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
<country>España</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>00</month>
<year>2023</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>00</month>
<year>2023</year>
</pub-date>
<volume>91</volume>
<numero>1</numero>
<fpage>50</fpage>
<lpage>56</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_arttext&amp;pid=S0300-90412023000100008&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_abstract&amp;pid=S0300-90412023000100008&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_pdf&amp;pid=S0300-90412023000100008&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[Resumen  INTRODUCCIÓN:  El síndrome de Frasier es una enfermedad de herencia autosómica dominante con una prevalencia inferior a 1 caso por cada millón de recién nacidos vivos. Hasta la fecha se han descrito unos 150 casos. Este síndrome se caracteriza por pseudohermafroditismo masculino, disgenesia gonadal 46, XY y enfermedad glomerular, todo ello producido por una mutación del gen WT1.  CASO CLÍNICO:  Paciente de 16 años que consultó por amenorrea primaria y ausencia de caracteres sexuales secundarios. Antecedentes: glomerulonefritis focal segmentaria corticorresistente desde la infancia. En la exploración física se objetivó un estadio Tanner 1. Las pruebas complementarias pusieron de manifiesto la ausencia de útero y anejos y un hipogonadismo hipergonadotrópico con cariotipo 46, XY. Ante los hallazgos se decidió la laparoscopia exploradora y salpingooforectomía bilateral. El informe anatomopatológico fue de disgerminoma de ovario derecho. La sospecha clínica se confirmó en el estudio genético, que reportó una mutación del gen WT1, diagnóstica de síndrome de Frasier. En la actualidad, la paciente recibe tratamiento inmunosupresor y hormonal sustitutivo, con una evolución favorable.  CONCLUSIÓN:  El diagnóstico temprano del síndrome de Frasier es fundamental en virtud del riesgo asociado de malignidad. La baja frecuencia de la enfermedad y la asociación común con retraso puberal en pacientes con enfermedades crónicas puede favorecer el retraso del diagnóstico. El reporte de los casos diagnosticados de este síndrome, y el tratamiento multidisciplinario son decisivos para mejorar el conocimiento de esta rara enfermedad.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[Abstract  INTRODUCTION:  Frasier Syndrome is an autosomal dominant inherited disease with a prevalence of less than 1 per million live births. To date, about 150 cases have been described. This syndrome is characterized by male pseudohermaphroditism, 46, XY gonadal dysgenesis, and glomerular disease, all caused by a mutation of the WT1 gene. It is essential to learn more about this disease, not only because of the high risk of ovarian neoplasia, but also because its early diagnosis will improve the prognosis.  CLINICAL CASES:  We report the case of a 16-year-old woman who consulted for primary amenorrhea and absence of secondary sexual characteristics. As medical history, she highlighted steroid-resistant focal segmental glomerulonephritis since childhood. The examination revealed Tanner stage 1. Complementary tests revealed the absence of the uterus and adnexa and hypergonadotropic hypogonadism with a 46, XY karyotype. Given the findings, it was decided to perform an exploratory laparoscopy and bilateral salpingo-oophorectomy. The anatomopathological result reported dysgerminoma of the right ovary. The clinical suspicion was confirmed by genetic study, which reported a mutation of the WT1 gene, diagnostic of Frasier Syndrome. Currently, the patient undergoes, along with immunosuppressive treatment, hormone replacement therapy, with a favorable evolution.  CONCLUSION:  Early diagnosis of Frasier Syndrome is essential given the associated risk of malignancy. The low frequency of the disease and the usual association of delayed puberty in patients with chronic diseases may lead to a diagnostic delay. Therefore, reporting the diagnosed cases of this syndrome, as well as its multidisciplinary management, is essential to improve knowledge about this rare disease.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[Síndrome de Frasier]]></kwd>
<kwd lng="es"><![CDATA[Glomerulonefritis]]></kwd>
<kwd lng="es"><![CDATA[Disgenesia gonadal]]></kwd>
<kwd lng="es"><![CDATA[Gen WT1]]></kwd>
<kwd lng="en"><![CDATA[Frasier Syndrome]]></kwd>
<kwd lng="en"><![CDATA[Glomerulonephritis]]></kwd>
<kwd lng="en"><![CDATA[Gonadal dysgenesis]]></kwd>
<kwd lng="en"><![CDATA[WT1]]></kwd>
</kwd-group>
</article-meta>
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</article>
