<?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>2462-8522</journal-id>
<journal-title><![CDATA[Case reports]]></journal-title>
<abbrev-journal-title><![CDATA[Case reports]]></abbrev-journal-title>
<issn>2462-8522</issn>
<publisher>
<publisher-name><![CDATA[Universidad Nacional de Colombia (Sede Bogotá), Facultad de Medicina]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S2462-85222022000200080</article-id>
<article-id pub-id-type="doi">10.15446/cr.v8n2.93719</article-id>
<title-group>
<article-title xml:lang="en"><![CDATA[PSEUDOHYPOPARATHYROIDISM: AN ENDOCRINE ORPHAN DISEASE. CASE REPORT]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Díaz-Brochero]]></surname>
<given-names><![CDATA[Cándida]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[González-Villa]]></surname>
<given-names><![CDATA[Ana]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Díaz-Tribaldos]]></surname>
<given-names><![CDATA[Diana Carolina]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Peralta-Franco]]></surname>
<given-names><![CDATA[Jhon]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Arteaga-Díaz]]></surname>
<given-names><![CDATA[Juan Manuel]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Hospital Universitario Nacional  ]]></institution>
<addr-line><![CDATA[Bogotá D.C. ]]></addr-line>
<country>Colombia</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Hospital Universitario Nacional  ]]></institution>
<addr-line><![CDATA[Bogotá D.C. ]]></addr-line>
<country>Colombia</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>12</month>
<year>2022</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>12</month>
<year>2022</year>
</pub-date>
<volume>8</volume>
<numero>2</numero>
<fpage>1</fpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://www.scielo.org.co/scielo.php?script=sci_arttext&amp;pid=S2462-85222022000200080&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.co/scielo.php?script=sci_abstract&amp;pid=S2462-85222022000200080&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.co/scielo.php?script=sci_pdf&amp;pid=S2462-85222022000200080&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="en"><p><![CDATA[ABSTRACT  Introduction: Pseudohypoparathyroidism (PHP) is a heterogeneous group of rare endocrine disorders characterized by resistance to the parathyroid hormone. There are few reports on PHP in Colombia, so the publication of the present case contributes to increase the interest in its research in the clinical setting.  Case presentation: An 18-year-old male with a history of hypothyroidism diagnosed at 4 months of age, stunted growth, delayed puberty, obesity, brachydactyly, pathologic fractures, femoral osteochondroma, insomnia, paresthesia, and chronic constipation was referred to the endocrinology service of a tertiary care center in Bogotá (Colombia) after being hospitalized following a seizure episode. On admission, laboratory tests revealed hypocalcemia, hyperphosphatemia, 25-hydroxy vitamin D in the range of insufficiency and elevated PTH. Imaging studies showed heterotopic ossifications and calcifications of the basal ganglia. A genetic study confirmed the diagnosis of PHP1A, so treatment was started with calcium, cholecalciferol and phosphorus chelators, leading to a satisfactory course. Both the patient and his first-degree relatives received genetic counseling and interdisciplinary assessment.  Conclusion: Although PHP type 1A is an unrecognized complex genetic disorder, it has a critical clinical importance within the differential diagnoses of hypocalcemia. Without prompt diagnosis and treatment, patients may experience serious and potentially fatal metabolic consequences.]]></p></abstract>
<abstract abstract-type="short" xml:lang="es"><p><![CDATA[RESUMEN  Introducción. El seudohipoparatiroidismo (SPT) es un trastorno genético poco frecuente que se caracteriza por la resistencia a la hormona paratiroidea (PTH). En Colombia existen pocos reportes sobre esta enfermedad, por lo que la publicación del presente caso contribuye a aumentar el interés en su búsqueda en el ámbito clínico.  Presentación del caso. Hombre de 18 años con antecedente de hipotiroidismo (diagnosticado a los 4 meses de nacido), retraso del crecimiento, desarrollo puberal tardío, obesidad, braquidactilia, fracturas patológicas, osteocondroma femoral, insomnio, parestesias y estreñimiento crónico, quien asistió al servicio de endocrinología de un hospital de tercer nivel de Bogotá (Colombia) remitido luego de haber estado hospitalizado por un episodio convulsivo. En dicha hospitalización los laboratorios evidenciaron hipocalcemia, hiperfosfatemia y 25-OH vitamina D en rango de insuficiencia con niveles elevados de PTH, y los estudios imagenológicos demostraron osificaciones heterotópicas y calcificaciones de ganglios basales del cerebro. Al paciente se le realizó un estudio genético que confirmó el diagnóstico de SPT1A, por lo que se le inició manejo con suplencia de calcio, colecalciferol y quelantes de fósforo, con lo cual evolucionó satisfactoriamente. Tanto el paciente como sus familiares de primer grado recibieron asesoramiento y valoración interdisciplinaria.  Conclusiones. El SPT1A es un trastorno genético complejo poco conocido pero de alta importancia clínica dentro de los diagnósticos diferenciales de hipocalcemia que debe considerarse ya que sin el diagnóstico y tratamiento oportunos, los pacientes pueden presentar consecuencias metabólicas graves y potencialmente fatales.]]></p></abstract>
<kwd-group>
<kwd lng="en"><![CDATA[Hypocalcemia]]></kwd>
<kwd lng="en"><![CDATA[Parathyroid Hormone]]></kwd>
<kwd lng="en"><![CDATA[Pseudohypoparathyroidism]]></kwd>
<kwd lng="es"><![CDATA[Hipocalcemia]]></kwd>
<kwd lng="es"><![CDATA[Hormona paratiroidea]]></kwd>
<kwd lng="es"><![CDATA[Seudohipoparatiroidismo]]></kwd>
</kwd-group>
</article-meta>
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