<?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>1688-0390</journal-id>
<journal-title><![CDATA[Revista Médica del Uruguay]]></journal-title>
<abbrev-journal-title><![CDATA[Rev. Méd. Urug.]]></abbrev-journal-title>
<issn>1688-0390</issn>
<publisher>
<publisher-name><![CDATA[Sindicato Médico del Uruguay]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S1688-03902026000101202</article-id>
<article-id pub-id-type="doi">10.29193/rmu.42.1.3</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Hipopituitarismo congénito: diagnóstico y seguimiento a 10 años en el servicio de Endocrinología del Hospital Pereira Rossell]]></article-title>
<article-title xml:lang="en"><![CDATA[Congenital hypopituitarism: diagnosis and 10-year follow-up in the Endocrinology Department of the Pereira Rossell Hospital]]></article-title>
<article-title xml:lang="pt"><![CDATA[Hipopituitarismo congênito: diagnóstico e seguimento de 10 anos no serviço de Endocrinologia do Hospital Pereira Rossell]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Casella]]></surname>
<given-names><![CDATA[Ana Clara]]></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[Arguiñarena]]></surname>
<given-names><![CDATA[Nadia]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Piñeyro]]></surname>
<given-names><![CDATA[Mercedes]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Gesuele]]></surname>
<given-names><![CDATA[Juan]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Universidad de la República Facultad de Medicina Unidad Académica de Endocrinología y Metabolismo, Hospital de Clínicas]]></institution>
<addr-line><![CDATA[Montevideo ]]></addr-line>
<country>Uruguay</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Montevideo  ]]></institution>
<addr-line><![CDATA[Montevideo ]]></addr-line>
<country>Uruguay</country>
</aff>
<aff id="Af3">
<institution><![CDATA[,Montevideo  ]]></institution>
<addr-line><![CDATA[Montevideo ]]></addr-line>
<country>Uruguay</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>00</month>
<year>2026</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>00</month>
<year>2026</year>
</pub-date>
<volume>42</volume>
<numero>1</numero>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://www.scielo.edu.uy/scielo.php?script=sci_arttext&amp;pid=S1688-03902026000101202&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.edu.uy/scielo.php?script=sci_abstract&amp;pid=S1688-03902026000101202&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.edu.uy/scielo.php?script=sci_pdf&amp;pid=S1688-03902026000101202&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[Resumen  Introducción: el hipopituitarismo congénito (HC) es una causa infrecuente de insuficiencia hipofisaria que puede presentarse con deficiencia de una o más hormonas hipofisarias. Su diagnóstico precoz y tratamiento oportuno son fundamentales para evitar secuelas graves en el crecimiento, desarrollo puberal y calidad de vida.  Objetivo: describir las características clínicas, bioquímicas, imagenológicas y terapéuticas de pacientes con HC en seguimiento en el Hospital Pereira Rossell entre 2012 y 2022.  Método: estudio descriptivo, retrospectivo. Se incluyeron pacientes de 0 a 21 años con diagnóstico de HC. Se analizaron variables clínicas, hormonales y de imagen. Se utilizó estadística descriptiva y prueba exacta de Fisher (p &lt; 0,05).  Resultados: se incluyeron doce pacientes, con igual distribución por sexo. Nueve fueron diagnosticados antes de los seis meses, principalmente por hipoglucemia e ictericia. En etapa escolar, la presentación más frecuente fue talla baja. Predominó el déficit hormonal combinado (83,3%), siendo los ejes más afectados el tirotropo y corticotropo (83,3%), seguido del eje somatotropo (75%). En 91,7% de los pacientes la TSH de cordón fue normal. El 91% de los pacientes evaluados por resonancia magnética mostraron alteraciones estructurales, siendo más frecuentes la hipófisis hipoplásica o ausente y la neurohipófisis ectópica. No se realizaron estudios genéticos. Se documentó un caso de fallecimiento.  Conclusiones: el HC se presentó con síntomas inespecíficos en etapa neonatal, lo cual dificulta el diagnóstico precoz. La hipoglucemia se asoció significativamente con la edad temprana de diagnóstico. El déficit hormonal fue predominantemente combinado. Las alteraciones imagenológicas fueron frecuentes. Se destaca la necesidad de estrategias diagnósticas más sensibles, incluyendo la pesquisa neonatal ampliada y estudios genéticos.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[Abstract  Introduction: congenital hypopituitarism (CH) is an uncommon cause of pituitary insufficiency that may present with deficiency of one or more pituitary hormones. Early diagnosis and timely treatment are essential to prevent severe sequelae in growth, pubertal development, and quality of life.  Objective: to describe the clinical, biochemical, imaging, and therapeutic characteristics of patients with CH followed at the Pereira Rossell Hospital between 2012 and 2022.  Methods: descriptive, retrospective study. Patients aged 0 to 21 years with a diagnosis of CH were included. Clinical, hormonal, and imaging variables were analyzed. Descriptive statistics and Fisher&#8217;s exact test (p &lt; 0.05) were used.  Results: twelve patients were included, with equal sex distribution. Nine were diagnosed before six months of age, mainly due to hypoglycemia and jaundice. In school age, the most frequent presentation was short stature. Combined hormonal deficiency predominated (83.3%), with the thyrotropic and corticotropic axes being the most affected (83.3%), followed by the somatotropic axis (75%). Umbilical cord TSH was normal in 91.7% of patients. Among those evaluated by magnetic resonance imaging, 91% showed structural abnormalities, most commonly hypoplastic or absent pituitary gland and ectopic neurohypophysis. No genetic studies were performed. One death was documented.  Conclusions: CH presented with nonspecific symptoms during the neonatal period, making early diagnosis challenging. Hypoglycemia was significantly associated with early age at diagnosis. Hormonal deficiency was predominantly combined. Imaging abnormalities were frequent. The need for more sensitive diagnostic strategies is emphasized, including expanded newborn screening and genetic studies.]]></p></abstract>
<abstract abstract-type="short" xml:lang="pt"><p><![CDATA[Resumo  Introdução: o hipopituitarismo congênito (HC) é uma causa incomum de insuficiência hipofisária que pode manifestarse com deficiência de um ou mais hormônios hipofisários. O diagnóstico precoce e o tratamento oportuno são fundamentais para evitar sequelas graves no crescimento, no desenvolvimento puberal e na qualidade de vida.  Objetivo: descrever as características clínicas, bioquímicas, de imagem e terapêuticas de pacientes com HC em acompanhamento no Hospital Pereira Rossell entre 2012 e 2022.  Método: estudo descritivo e retrospectivo. Foram incluídos pacientes de 0 a 21 anos com diagnóstico de HC. Variáveis clínicas, hormonais e de imagem foram analisadas. Utilizou-se estatística descritiva e o teste exato de Fisher (p &lt; 0,05).  Resultados: foram incluídos doze pacientes, com igual distribuição entre os sexos. Nove foram diagnosticados antes dos seis meses de vida, principalmente por hipoglicemia e icterícia. Em idade escolar, a apresentação mais frequente foi baixa estatura. Predominou a deficiência hormonal combinada (83,3%), sendo os eixos mais afetados o tireotrófico e o corticotrófico (83,3%), seguidos pelo eixo somatotrófico (75%). A TSH de cordão foi normal em 91,7% dos pacientes. Entre aqueles avaliados por ressonância magnética, 91% apresentaram alterações estruturais, sendo mais frequentes a hipófise hipoplásica ou ausente e a neuro-hipófise ectópica. Não foram realizados estudos genéticos. Foi documentado um óbito.  Conclusões: o HC apresentou-se com sintomas inespecíficos no período neonatal, o que dificulta o diagnóstico precoce. A hipoglicemia associou-se significativamente à idade mais precoce de diagnóstico. A deficiência hormonal foi predominantemente combinada. As alterações de imagem foram frequentes. Destaca-se a necessidade de estratégias diagnósticas mais sensíveis, incluindo triagem neonatal ampliada e estudos genéticos.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[Hipopituitarismo congénito]]></kwd>
<kwd lng="es"><![CDATA[Deficiencia hormonal múltiple]]></kwd>
<kwd lng="es"><![CDATA[Déficit combinado]]></kwd>
<kwd lng="es"><![CDATA[Hipoglucemia neonatal Ictericia]]></kwd>
<kwd lng="es"><![CDATA[Hipófisis hipoplásica]]></kwd>
<kwd lng="en"><![CDATA[Congenital hypopituitarism]]></kwd>
<kwd lng="en"><![CDATA[Multiple hormonal deficiency]]></kwd>
<kwd lng="en"><![CDATA[Combined deficit]]></kwd>
<kwd lng="en"><![CDATA[Neonatal hypoglycemia]]></kwd>
<kwd lng="en"><![CDATA[Jaundice]]></kwd>
<kwd lng="en"><![CDATA[Hypoplastic pituitary gland]]></kwd>
</kwd-group>
</article-meta>
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