Deficiencia de 3β-hidroxiesteroide deshidrogenasa: una causa rara de hiperplasia adrenal congénita

  • Angélica González-Patiño Universidad de Antioquia
  • Jennyfer Monroy-Espejo Clínica CES
  • Martín Toro-Ramos Universidad de Antioquia, IPS Universitaria
  • Germán Campuzano-Maya Laboratorio Clínico Hematológico
  • Nicolás G. Pineda-Trujillo Universidad de Antioquia
Palabras clave: 3-beta-hidroxiesteroide deshidrogenasa, hiperplasia suprarrenal congénita, esteroidogénesis, cortisol.

Resumen

La hiperplasia adrenal congénita corresponde a un grupo de enfermedades heredadas con defectos enzimáticos que pueden comprometer la biosíntesis del cortisol. La deficiencia de la enzima 3β-hidroxiesteroide deshidrogenasa tipo 2 es una causa rara de este defecto en la que el desarrollo genital masculino se encuentra alterado y presenta una virilización leve en las mujeres afectadas. En humanos se han descrito dos isoenzimas, la tipo I y la tipo II, codificadas por los genes HSD3B1 y HSD3B2, respectivamente, con una distribución tisular específica. Los programas de tamización de la hiperplasia adrenal congénita reportan elevación paradójica de la 17-hidroxiprogesterona secundaria al efecto periférico de la 3β-hidroxiesteroide deshidrogenasa tipo 1, isoenzima de la 3β-hidroxiesteroide deshidrogenasa tipo 2, que tiene una constante de Michaelis menor con el sustrato. A pesar de la baja prevalencia el estudio de este defecto ha tenido importantes avances en cuanto a la información molecular y el diagnóstico hormonal, datos que han sido respaldados por la identificación de la alteración genética y han disminuido la posibilidad del sobrediagnóstico; evento que se estaba presentado frecuentemente con los puntos de cortes establecidos inicialmente para el diagnóstico de la enfermedad, sobre todo en sus formas leves.

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Biografía del autor/a

Angélica González-Patiño, Universidad de Antioquia

Médica Pediatra. Especialista en Epidemiología. Residente de endocrinología pediátrica. Universidad de Antioquia. Medellín, Colombia. 

Jennyfer Monroy-Espejo, Clínica CES

Endocrinóloga Pediatra. Hospital infantil Concejo de Medellín. Hospital Santa Ana. Clínica CES. Medellín, Colombia.

Martín Toro-Ramos, Universidad de Antioquia, IPS Universitaria

Pediatra Endocrinólogo. IPS Universitaria, Docente de cátedra, Departamento de Pediatría y Puericultura, Facultad de Medicina, Universidad de Antioquia. Medellín, Colombia.

Germán Campuzano-Maya, Laboratorio Clínico Hematológico

Médico especialista en Hematología y Patología Clínica. Docente, Ad Honorem, Facultad de Medicina, Universidad de Antioquia. Médico Director, Laboratorio Clínico Hematológico. Medellín, Colombia.

Nicolás G. Pineda-Trujillo, Universidad de Antioquia

Biólogo, MSc en Ciencias Básicas Biomédicas, PhD en Genética. Docente, Grupo Mapeo Genético, Departamento de Pediatría y Puericultura, Facultad de Medicina, Universidad de Antioquia. Medellín, Colombia.

 

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Cómo citar
1.
González-Patiño A, Monroy-Espejo J, Toro-Ramos M, Campuzano-Maya G, Pineda-Trujillo NG. Deficiencia de 3β-hidroxiesteroide deshidrogenasa: una causa rara de hiperplasia adrenal congénita. Med. Lab. [Internet]. 1 de julio de 2016 [citado 22 de abril de 2021];22(7-8):327-42. Disponible en: https://medicinaylaboratorio.com/index.php/myl/article/view/84
Publicado
2016-07-01
Sección
Endocrinología
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