<?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>1688-1249</journal-id>
<journal-title><![CDATA[Archivos de Pediatría del Uruguay]]></journal-title>
<abbrev-journal-title><![CDATA[Arch. Pediatr. Urug.]]></abbrev-journal-title>
<issn>1688-1249</issn>
<publisher>
<publisher-name><![CDATA[Sociedad Uruguaya de Pediatría]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S1688-12492024000101302</article-id>
<article-id pub-id-type="doi">10.31134/ap.95.1.9</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Hiperplasia suprarrenal congénita clásica de presentación neonatal. Reporte de un caso clínico]]></article-title>
<article-title xml:lang="en"><![CDATA[Neonatal classic congenital adrenal hyperplasia. Clinical case study]]></article-title>
<article-title xml:lang="pt"><![CDATA[Hiperplasia adrenal congênita clássica de apresentação neonatal. Relato de caso clínico]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Cesio]]></surname>
<given-names><![CDATA[Ma. Eugenia]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[De María]]></surname>
<given-names><![CDATA[Manuela]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Finozzi]]></surname>
<given-names><![CDATA[Rosa]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Moraes]]></surname>
<given-names><![CDATA[Mario]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,CHPR Depto. Neonatología ]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
</aff>
<aff id="Af2">
<institution><![CDATA[,CHPR Depto. Neonatología ]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
</aff>
<aff id="Af3">
<institution><![CDATA[,Hospital de Clínicas Cátedra Endocrinología y Metabolismo ]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
</aff>
<aff id="Af4">
<institution><![CDATA[,CHPR Neonatología ]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>00</month>
<year>2024</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>00</month>
<year>2024</year>
</pub-date>
<volume>95</volume>
<numero>1</numero>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://www.scielo.edu.uy/scielo.php?script=sci_arttext&amp;pid=S1688-12492024000101302&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.edu.uy/scielo.php?script=sci_abstract&amp;pid=S1688-12492024000101302&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.edu.uy/scielo.php?script=sci_pdf&amp;pid=S1688-12492024000101302&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[Resumen:  Introducción:  la hiperplasia suprarrenal congénita (HSC) comprende un conjunto de enfermedades hereditarias que involucran alteraciones en el ciclo del cortisol a nivel enzimático. La forma clásica tiene una incidencia de 1:14.000 a 1:18.000 nacimientos, mientras que la no clásica se presenta en 1:2.000 recién nacidos. Según la enzima involucrada, las manifestaciones clínicas varían desde asintomáticas a alteraciones en medio interno que comprometen la vida, por lo que debe tenerse un alto nivel de sospecha clínica para diagnosticarla en forma oportuna. En Uruguay, desde el año 2007, se cuenta con el pesquisaje de la 17-OH progesterona, producto aumentado en la forma más frecuente de HSC. El diagnóstico prenatal mediante la búsqueda de mutaciones en el gen CYP21A2, a través de punción de vellosidades coriales o amniocentesis, o del ADN fetal en sangre materna se recomienda en HSC con ambos padres portadores de la mutación severa y el antecedente de un hijo previo con la forma clásica. El tratamiento prenatal se considera en etapa experimental, con dexametasona en fetos femeninos con riesgo de enfermedad clásica, manteniéndose con la confirmación hasta el parto. Se presenta el caso clínico de una recién nacida de 11 días con HSC perdedora de sal y virilización de genitales externos, diagnosticada por la pesquisa neonatal. Se reporta su manejo interdisciplinario y evolución.  Conclusiones: la hiperplasia suprarrenal es una enfermedad hereditaria potencialmente grave. La pesquisa neonatal constituye una herramienta efectiva para la detección de esta enfermedad. El manejo multidisciplinario es clave para el seguimiento y la optimización del tratamiento.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[Summary:  Introduction:  congenital adrenal hyperplasia (CAH) involves a set of hereditary diseases that include alterations in the cortisol cycle, at enzymatic level. The classic variant has an incidence of 1:14,000 to 1:18,000 births, while the non-classic one occurs in 1:2,000 newborns. As a result of the enzyme involved, the clinical manifestations change from asymptomatic to alterations in the internal environment that compromise life, so clinical suspicion must be high in order to diagnose it in a timely manner. The diagnosis is more frequently made by neonatal screening than by physical examination, and it is a more sensitive method, especially in males, since there are no changes at the level of external genitalia. The implementation of screening has reduced the time prior to diagnosis. In Uruguay, since 2007, a universal screening has been carried out measuring 17-OH progesterone, which is increased in the most frequent form of CAH. Treatment is lifelong, consisting of oral glucocorticoids (hydrocortisone) and mineralocorticoids (fludrocortisone). We recommend prenatal diagnosis by searching for mutations in the CYP21A2 gene through chorionic villus puncture or amniocentesis, or fetal DNA in maternal blood in cases of CAH if both parents are carriers of the severe mutation and have a history of a previous classic case. Prenatal treatment with dexamethasone is considered in the experimental stage, in female fetuses at risk of the standard disease, which is maintained until birth if confirmed. We present a clinical case of an 11-day-old newborn with salt-wasting congenital adrenal hyperplasia and virilization of the external genitalia, diagnosed by neonatal screening. We report her management and interdisciplinary evolution.  Conclusion:  adrenal hyperplasia is a potentially serious inherited disease. Neonatal screening is an effective tool for detecting this disease. Multidisciplinary management is key to monitoring and optimizing treatment.]]></p></abstract>
<abstract abstract-type="short" xml:lang="pt"><p><![CDATA[Resumo:  Introdução:  a hiperplasia adrenal congênita (HAC) compreende um conjunto de doenças hereditárias que envolvem alterações no ciclo do cortisol, em nível enzimático. A forma clássica tem incidência de 1:14.000 a 1:18.000 nascimentos, enquanto a forma não clássica ocorre em 1:2.000 recém-nascidos. Dependendo da enzima envolvida, as manifestações clínicas variam de assintomáticas até alterações do ambiente interno que comprometem a vida, portanto é necessário ter um alto nível de suspeita clínica para diagnosticá-la em forma precoce. No Uruguai, desde 2007, existe triagem para 17-OH progesterona, produto aumentado na forma mais frequente de HAC. O diagnóstico pré-natal pela busca de mutações no gene CYP21A2 por meio de punção de vilosidades coriônicas ou amniocentese, ou DNA fetal no sangue materno é recomendado na HAC com ambos os pais portadores da mutação grave e história de filho anterior com a forma clássica. O tratamento pré-natal é considerado em fase experimental, com dexametasona em fetos femininos com risco de doença clássica, continuando com confirmação até o parto. É apresentado o caso clínico de um recém-nascido de 11 dias com hiperplasia adrenal congênita perdedora de sal e virilização da genitália externa, diagnosticado por triagem neonatal. Relatamos sua gestão interdisciplinar e evolução.  Conclusões:  a hiperplasia adrenal é uma doença hereditária potencialmente grave. A triagem neonatal é uma ferramenta eficaz para detectar esta doença. O manejo multidisciplinar é fundamental para monitorar e otimizar o tratamento.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[Hiperplasia Suprarrenal Congénita]]></kwd>
<kwd lng="es"><![CDATA[Recién Nacido]]></kwd>
<kwd lng="en"><![CDATA[Congenital Adrenal Hyperplasia]]></kwd>
<kwd lng="en"><![CDATA[Newborn]]></kwd>
<kwd lng="pt"><![CDATA[Hiperplasia Suprarrenal Congênita]]></kwd>
<kwd lng="pt"><![CDATA[Recém-Nascido]]></kwd>
</kwd-group>
</article-meta>
</front><back>
<ref-list>
<ref id="B1">
<label>1</label><nlm-citation citation-type="book">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Fechner]]></surname>
<given-names><![CDATA[P]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Enfermedades de las glándulas suprarrenales]]></article-title>
<person-group person-group-type="editor">
<name>
<surname><![CDATA[Gleason]]></surname>
<given-names><![CDATA[C]]></given-names>
</name>
<name>
<surname><![CDATA[Juul]]></surname>
<given-names><![CDATA[S.]]></given-names>
</name>
</person-group>
<source><![CDATA[Avery. Enfermedades del recién nacido]]></source>
<year>2019</year>
<edition>10</edition>
<page-range>1355-7</page-range><publisher-loc><![CDATA[Barcelona ]]></publisher-loc>
<publisher-name><![CDATA[Elsevier]]></publisher-name>
</nlm-citation>
</ref>
<ref id="B2">
<label>2</label><nlm-citation citation-type="book">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Shulman]]></surname>
<given-names><![CDATA[R]]></given-names>
</name>
<name>
<surname><![CDATA[Palmert]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Wherrett]]></surname>
<given-names><![CDATA[D]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Disorders of sex development]]></article-title>
<person-group person-group-type="editor">
<name>
<surname><![CDATA[Martin]]></surname>
<given-names><![CDATA[R]]></given-names>
</name>
<name>
<surname><![CDATA[Fanaroff]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Walsh]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
</person-group>
<source><![CDATA[Fanaroff and Martin's neonatal-perinatal medicine: diseases of the fetus and infant]]></source>
<year>2011</year>
<edition>9</edition>
<page-range>1607-15</page-range><publisher-loc><![CDATA[St Louis ]]></publisher-loc>
<publisher-name><![CDATA[Elsevier]]></publisher-name>
</nlm-citation>
</ref>
<ref id="B3">
<label>3</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[El-Maouche]]></surname>
<given-names><![CDATA[D]]></given-names>
</name>
<name>
<surname><![CDATA[Arlt]]></surname>
<given-names><![CDATA[W]]></given-names>
</name>
<name>
<surname><![CDATA[Merke]]></surname>
<given-names><![CDATA[D]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Congenital adrenal hyperplasia]]></article-title>
<source><![CDATA[Lancet]]></source>
<year>2017</year>
<volume>390</volume>
<numero>10108</numero>
<issue>10108</issue>
<page-range>2194-210</page-range></nlm-citation>
</ref>
<ref id="B4">
<label>4</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Labarta]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
<name>
<surname><![CDATA[De Arriba]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Ferrer]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Hiperplasia suprarrenal congénita]]></article-title>
<source><![CDATA[Protoc Diagn Ter Pediatr]]></source>
<year>2019</year>
<volume>1</volume>
<page-range>141-56</page-range></nlm-citation>
</ref>
<ref id="B5">
<label>5</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Speiser]]></surname>
<given-names><![CDATA[P]]></given-names>
</name>
<name>
<surname><![CDATA[Azziz]]></surname>
<given-names><![CDATA[R]]></given-names>
</name>
<name>
<surname><![CDATA[Baskin]]></surname>
<given-names><![CDATA[L]]></given-names>
</name>
<name>
<surname><![CDATA[Ghizzoni]]></surname>
<given-names><![CDATA[L]]></given-names>
</name>
<name>
<surname><![CDATA[Hensle]]></surname>
<given-names><![CDATA[T]]></given-names>
</name>
<name>
<surname><![CDATA[Merke]]></surname>
<given-names><![CDATA[D]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency an Endocrine Society clinical practice guideline]]></article-title>
<source><![CDATA[J Clin Endocrinol Metab]]></source>
<year>2010</year>
<volume>95</volume>
<numero>9</numero>
<issue>9</issue>
<page-range>4133-60</page-range></nlm-citation>
</ref>
<ref id="B6">
<label>6</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Queiruga]]></surname>
<given-names><![CDATA[G]]></given-names>
</name>
<name>
<surname><![CDATA[Queijo]]></surname>
<given-names><![CDATA[C]]></given-names>
</name>
<name>
<surname><![CDATA[Lemes]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Machado]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Garlo]]></surname>
<given-names><![CDATA[P]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Sistema nacional de pesquisa neonatal en Uruguay]]></article-title>
<source><![CDATA[Mem Inst Investig Cienc Salud]]></source>
<year>2011</year>
<volume>9</volume>
<numero>2</numero>
<issue>2</issue>
<page-range>72-7</page-range></nlm-citation>
</ref>
<ref id="B7">
<label>7</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Rodríguez]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Sanz]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Echevarría]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Hiperplasia suprarrenal congénita por déficit de 21-hidroxilasa]]></article-title>
<source><![CDATA[Pediatr Integral]]></source>
<year>2015</year>
<volume>19</volume>
<numero>7</numero>
<issue>7</issue>
<page-range>488-97</page-range></nlm-citation>
</ref>
<ref id="B8">
<label>8</label><nlm-citation citation-type="book">
<source><![CDATA[Decreto Nº 416/007. Investigación obligatoria de patologías en recién nacidos y su denuncia ante el MSP. Hipotiroidismo congénito, fenilcetonuria e hiperplasia suprarrenal. Montevideo, 12 de noviembre de 2007.]]></source>
<year>2007</year>
<publisher-loc><![CDATA[Montevideo ]]></publisher-loc>
<publisher-name><![CDATA[IMPO]]></publisher-name>
</nlm-citation>
</ref>
<ref id="B9">
<label>9</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Carrasco]]></surname>
<given-names><![CDATA[P]]></given-names>
</name>
<name>
<surname><![CDATA[Gragera]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Vázquez]]></surname>
<given-names><![CDATA[I]]></given-names>
</name>
<name>
<surname><![CDATA[León]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Asesoramiento genético en pacientes portadores de la mutación p V282L en el gen CYP21A2]]></article-title>
<source><![CDATA[Med Clin Pract]]></source>
<year>2018</year>
<volume>1</volume>
<numero>1-2</numero>
<issue>1-2</issue>
<page-range>4-5</page-range></nlm-citation>
</ref>
<ref id="B10">
<label>10</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Labarta]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
<name>
<surname><![CDATA[Puga]]></surname>
<given-names><![CDATA[B]]></given-names>
</name>
<name>
<surname><![CDATA[Ferrer]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[De Arriba]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Vara]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Actualización en el tratamiento prenatal de la hiperplasia suprarrenal congénita]]></article-title>
<source><![CDATA[Rev Esp Endocrinol Pediatr]]></source>
<year>2019</year>
<volume>10</volume>
<numero>1</numero>
<issue>1</issue>
<page-range>59-64</page-range></nlm-citation>
</ref>
<ref id="B11">
<label>11</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Aulinas]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Casanueva]]></surname>
<given-names><![CDATA[F]]></given-names>
</name>
<name>
<surname><![CDATA[Goñi]]></surname>
<given-names><![CDATA[F]]></given-names>
</name>
<name>
<surname><![CDATA[Monereo]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Morenoe]]></surname>
<given-names><![CDATA[B]]></given-names>
</name>
<name>
<surname><![CDATA[Picó]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Insuficiencia suprarrenal y su tratamiento sustitutivo Su realidad en España]]></article-title>
<source><![CDATA[Endocrinol Nutr]]></source>
<year>2013</year>
<volume>60</volume>
<numero>3</numero>
<issue>3</issue>
<page-range>136-43</page-range></nlm-citation>
</ref>
<ref id="B12">
<label>12</label><nlm-citation citation-type="book">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Paz]]></surname>
<given-names><![CDATA[L]]></given-names>
</name>
<name>
<surname><![CDATA[Varela]]></surname>
<given-names><![CDATA[L]]></given-names>
</name>
<name>
<surname><![CDATA[Atienza]]></surname>
<given-names><![CDATA[G]]></given-names>
</name>
</person-group>
<source><![CDATA[Cribado neonatal de la hiperplasia suprarrenal congénita: revisión sistemática]]></source>
<year>2014</year>
<publisher-loc><![CDATA[Santiago de Compostela ]]></publisher-loc>
<publisher-name><![CDATA[Consellería de Sanidad, Axencia de Avaliación de Tecnoloxías Sanitarias de Galicia]]></publisher-name>
</nlm-citation>
</ref>
<ref id="B13">
<label>13</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Fanjul]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Molina]]></surname>
<given-names><![CDATA[E]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Ventajas e inconvenientes de las distintas opciones correctoras quirúrgicas]]></article-title>
<source><![CDATA[Rev Esp Endocrinol Pediatr]]></source>
<year>2019</year>
<volume>10</volume>
<numero>2</numero>
<issue>2</issue>
<page-range>56-8</page-range></nlm-citation>
</ref>
</ref-list>
</back>
</article>
