<?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>0120-0011</journal-id>
<journal-title><![CDATA[Revista de la Facultad de Medicina]]></journal-title>
<abbrev-journal-title><![CDATA[rev.fac.med.]]></abbrev-journal-title>
<issn>0120-0011</issn>
<publisher>
<publisher-name><![CDATA[Universidad Nacional de Colombia]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S0120-00112022000200012</article-id>
<article-id pub-id-type="doi">10.15446/revfacmed.v70n2.91379</article-id>
<title-group>
<article-title xml:lang="en"><![CDATA[Pseudohypoparathyroidism associated with Gitelman syndrome. Case report]]></article-title>
<article-title xml:lang="es"><![CDATA[Seudohipoparatiroidismo asociado con síndrome de Gitelman. Reporte de caso]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Saavedra-López]]></surname>
<given-names><![CDATA[Harold Felipe]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Meléndez-Rhenals]]></surname>
<given-names><![CDATA[Sugeich]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Universidad Nacional de Colombia Faculty of Medicine Department of Internal Medicine - Endocrinology Residency]]></institution>
<addr-line><![CDATA[Bogotá D.C]]></addr-line>
<country>Colombia</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Universidad Nacional de Colombia Faculty of Medicine Department of Internal Medicine]]></institution>
<addr-line><![CDATA[Bogotá D.C]]></addr-line>
<country>Colombia</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>06</month>
<year>2022</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>06</month>
<year>2022</year>
</pub-date>
<volume>70</volume>
<numero>2</numero>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://www.scielo.org.co/scielo.php?script=sci_arttext&amp;pid=S0120-00112022000200012&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.co/scielo.php?script=sci_abstract&amp;pid=S0120-00112022000200012&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.co/scielo.php?script=sci_pdf&amp;pid=S0120-00112022000200012&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="en"><p><![CDATA[Abstract  Introduction: Pseudohypoparathyroidism (PHP) is a genetic disease with a very low prevalence that causes parathyroid hormone (PTH) resistance, in which patients present complications secondary to the resulting hypocalcemia.  Clinical case A 37-year-old man with a history of tetanic seizures since childhood and an imprecise diagnosis of hypokalemic periodic paralysis since 2013 was admitted to the emergency department of a secondary care hospital in Bogotá D.C., Colombia, due to paresthesia in his hands and feet for two days, which worsened to painful intermittent muscle spasms. The patient stated that he had no genetic family history. Laboratory tests showed hypocalcemia, hypomagnesemia, hyperphosphatasemia, hypokalemia, and elevated PTH levels (369 pg/mL). Therefore, after ruling out several causes of secondary hyperparathyroidism, PTH-dependent hypocalcemia compatible with PHP was suspected. Simultaneously, the patient had compensated metabolic alkalosis, increased renal potassium loss, hypocalciuria, and normal blood pressure, raising the possibility of Gitelman syndrome (GS). Taking this into account, calcium, potassium and magnesium supplementation was started, achieving the complete resolution of the symptoms and normal electrolytes levels. However, it should be noted that since the hospital where the patient was treated did not have the necessary means to perform genetic tests, which is common in Colombia, it was not possible to confirm the diagnosis of both conditions.  Conclusion: Although genetic confirmation of the PHP and GS diagnoses was not possible in this case, this would be the second case reported in the world of a patient with clinical suspicion of PHP and GS, which could be a new, yet unknown, genetic mutation that explains the simultaneous occurrence of these two conditions.]]></p></abstract>
<abstract abstract-type="short" xml:lang="es"><p><![CDATA[Resumen  Introducción. El seudohipoparatiroidismo (SPT) es una enfermedad genética con una prevalencia muy baja que causa resistencia a la paratohormona (PTH), con complicaciones subsecuentes a la hipocalcemia resultante.  Presentación del caso. Hombre de 37 años con antecedente de crisis tetánicas desde la infancia y con diagnóstico impreciso de parálisis periódica hipocaliémica desde 2013 que ingresó al servicio de urgencias de un hospital de segundo nivel de Bogotá D.C., Colombia, por experimentar parestesias en manos y pies durante dos días, las cuales empeoraron a espasmos dolorosos intermitentes. El paciente negó antecedentes genéticos familiares. En los exámenes de laboratorio se reportó hipocalcemia, hipomagnesemia, hiperfosfatemia e hipocalemia, además de niveles elevados de PTH (369 pg/mL), por lo que, luego de descartarse varias causas de hiperparatiroidismo secundario, se sospechó hipocalcemia dependiente de PTH, compatible con SPT. Al mismo tiempo, el paciente presentó alcalosis metabólica, aumento de pérdidas renales de potasio, hipocalciura y presión arterial normal, por lo que se sospechó síndrome de Gitelman (SG). Teniendo en cuenta lo anterior, se inició suplementación de calcio, potasio y magnesio, obteniéndose una resolución completa de los síntomas y niveles normales de electrolitos. En todo caso, debe mencionarse que debido a que en el hospital no se contaba con los medios necesarios para realizar las pruebas genéticas, algo frecuente en Colombia, no fue posible confirmar el diagnóstico de estas dos condiciones.  Conclusión. Si bien en este caso no fue posible obtener la confirmación genética del diagnóstico de SPT y SG, este sería el segundo caso reportado en el mundo de un paciente con sospecha clínica de SPT y SG, lo que podría constituir una nueva mutación genética aún desconocida que explique la ocurrencia simultánea de estas dos condiciones.]]></p></abstract>
<kwd-group>
<kwd lng="en"><![CDATA[Pseudohypoparathyroidism]]></kwd>
<kwd lng="en"><![CDATA[Gitelman Syndrome]]></kwd>
<kwd lng="en"><![CDATA[Hypocalcemia]]></kwd>
<kwd lng="en"><![CDATA[Hypokalemia]]></kwd>
<kwd lng="en"><![CDATA[Case report (MeSH)]]></kwd>
<kwd lng="es"><![CDATA[Pseudohipoparatiroidismo]]></kwd>
<kwd lng="es"><![CDATA[Síndrome de Gitelman]]></kwd>
<kwd lng="es"><![CDATA[Hipocalcemia]]></kwd>
<kwd lng="es"><![CDATA[Hipopotasemia]]></kwd>
<kwd lng="es"><![CDATA[Reporte de caso (DeCS)]]></kwd>
</kwd-group>
</article-meta>
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