Hiperplasia adrenal congénita por déficit de 21 hidroxilasa: un reto diagnóstico y terapéutico
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency: a therapeutic and diagnosis challenge
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La hiperplasia adrenal congénita es un conjunto de anomalías con herencia autosómica recesiva por el déficit de una de las cinco enzimas necesarias para la síntesis de cortisol en la corteza adrenal. La causa más frecuente es la deficiencia de 21 hidroxilasa, que explica más del 95% de los casos. La presentación es heterogénea y depende de cuán afectada está la función enzimática y el sexo del paciente. Se clasifica en una variante no clásica y clásica, esta se subclasifica en una forma con pérdidas salinas y virilizante simple. El tratamiento se fundamenta en el uso de glucocorticoides y mineralocorticoides, con un seguimiento estricto para minimizar las reacciones adversas.
Objetivo: Revisión descriptiva sobre el estado del arte de la hiperplasia adrenal congénita.
Materiales y métodos: Revisión no sistemática de la literatura mediante los buscadores Medline, PubMed, LILACS y la herramienta Clinical Key de publicaciones en los últimos diez años. Se usaron las palabas: hiperplasia adrenal congénita, déficit de 21 hidroxilasa y ambigüedad sexual.
Discusión y conclusión: Como es una enfermedad de gran variabilidad en la presentación clínica y las características paraclínicas, es necesario que los profesionales de la salud tengan amplio conocimiento en cuanto a su forma de presentación, diagnóstico y manejo en situaciones especiales (crisis adrenal, dosis de estrés, embarazo), además de realizar seguimiento regular e intervenciones tempranas con el fin de mermar las consecuencias deletéreas, derivadas del tratamiento con corticoides en forma crónica.
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