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Síndrome de Cushing debido al complejo de Carney en dos hermanos

Akhila Panduranga Bhandarkar¹, Laxminarayana Samaga², Shrikrishna Acharya³

¹Endocrinology and Metabolism, K S Hegde Medical Academy, Mangaluru, Karnataka, India drakhila.bhandarkar@gmail.com.

BMJ case reports

|August 21, 2025

Resumen

El complejo de Carney (CNC), un raro trastorno hereditario, fue diagnosticado en dos hermanos que presentaban el síndrome de Cushing. Las pruebas genéticas revelaron una nueva mutación de PRKAR1A, confirmando el diagnóstico y guiando el tratamiento.

Área de la Ciencia:

Endocrinología pediátrica
La genética
Trastornos hereditarios raros

Sus antecedentes:

El complejo de Carney (CNC) es un trastorno hereditario raro que a menudo se presenta con anormalidades endocrinas.
El diagnóstico en niños es poco frecuente, lo que plantea un desafío clínico.
El síndrome de Cushing (CS) es una manifestación común, pero otros tumores endocrinos y no endocrinos están asociados con CNC.

Objetivo del estudio:

Para presentar dos casos pediátricos del complejo de Carney (CNC).
Para resaltar los desafíos de diagnóstico y la importancia de las pruebas genéticas en casos sospechosos de CNC.
Para subrayar la asociación de CNC con el síndrome de Cushing y la enfermedad nodular pigmentada adrenocortical primaria (PPNAD).

Principales métodos:

Presentación del caso clínico de dos hermanos con sospecha de complejo de Carney.
Examen clínico detallado, análisis hormonales (incluidos los niveles de ACTH) y estudios por imágenes.
Análisis genético para mutaciones en el gen PRKAR1A y confirmación mediante adrenalectomía bilateral.

Principales resultados:

Ambos hermanos presentaron rasgos cushingoides y fueron diagnosticados con síndrome de Cushing.
La hermana exhibió características clásicas de CNC, incluidos CS y PPNAD independientes de ACTH.
Se identificó una nueva variante del gen PRKAR1A en ambos hermanos, confirmando el diagnóstico de CNC.
La adrenalectomía bilateral confirmó el PPNAD, con un seguimiento insignificante.

Conclusiones:

El diagnóstico del complejo de Carney en los niños puede ser un desafío, que requiere una evaluación exhaustiva más allá de los síntomas iniciales.
Las pruebas genéticas para las mutaciones de PRKAR1A son cruciales para confirmar el CNC, especialmente en casos con presentaciones ambiguas.
El diagnóstico precoz y la confirmación genética facilitan la gestión y el seguimiento adecuados de los tumores endocrinos y no endocrinos asociados.

Palabras clave:

El sistema endocrino Endocrinología

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