Causas genéticas de acromegalia: revisión narrativa

Contexto: La acromegalia es causada en la gran mayoría de los casos por tumores hipofisiarios productores de hormona de crecimiento. Estos tumores suelen ocurrir de manera esporádica y raramente de forma hereditaria. En los últimos años se ha explorado el panorama de las mutaciones y síndromes familiares asociados a la acromegalia y al gigantismo.

Objetivo: Esta revisión se concentra en el conocimiento actual de las bases genéticas causantes de la acromegalia familiar.

Metodología: Se revisaron las bases de datos electrónicas y textos guías de endocrinología y se resumen las enfermedades genéticas asociadas a acromegalia.

Resultados: Las causas genéticas de acromegalia son el complejo de Carney, la neoplasia endocrina múltiple tipo 1, los adenomas pituitarios aislados familiares (FIPA), el acrogigantismo ligado al X (XLAG), la asociación de feocromocitoma/paraganglioma/adenoma pituitario familiar (3P), el síndrome de McCune-Albright (SMA) y la neurofibromatosis tipo 1.

Conclusiones: Se debe buscar activamente neoplasia endocrina múltiple en los pacientes con acromegalia mediante la medición de calcio y hormona paratiroidea. Además, siempre debe preguntarse por antecedentes familiares buscando FIPA y en casos muy jóvenes o con manifestaciones asociadas sospechar una causa genética.

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acromegalia
neoplasia endocrina múltiple
complejo de Carney
displasia fibrosa poliostótica
gigantismo