Mujer con paragangliomatosis múltiple: una revisión del aspecto genético / Multiple paraganglioma in a female patient: review of genetic features

Presentamos el caso de una paciente con clínica de exceso de catecolaminas, con confirmación bioquímica y pruebas de imagen compatibles con paraganglioma. Aunque presentó datos de hiperparatiroidismo e hipergastrinemia que obligaron a descartar una neoplasia endocrina múltiple tipo 1 y 2 (MEN), finalmente se diagnosticó de paragangliomatosis múltiple. Esta entidad se asocia a mutaciones de los genes SDHB-C-D, que en nuestro caso se confirmó la mutación del último. El conocimiento de la genética, mutaciones, tipo de transmisión, vías de tumorogénesis, de estas entidades está en pleno desarrollo, por lo que se presenta una revisión de los últimos datos (AU)

We report the case of a female patient who presented with symptoms of catecholamine excess. Urinary catecholamines were elevated. Radiologic tests were compatible with paraganglioma. High parathyroid hormone and gastrin values were also detected, which excluded multiple endocrine neoplasia type 1 and 2. Finally, the patient was diagnosed with multiple paraganglioma. This entity is associated with mutations in the SDHB-C-D genes. An SDHD mutation was found in our patient. The genetic bases, mutations, genotype-phenotype associations, and tumorigenesis of SDH are currently being studied. The present article provides a review of the most recent data (AU)

Multiple paraganglioma in a female patient: review of genetic features.

We report the case of a female patient who presented with symptoms of catecholamine excess. Urinary catecholamines were elevated. Radiologic tests were compatible with paraganglioma. High parathyroid hormone and gastrin values were also detected, which excluded multiple endocrine neoplasia type 1 and 2. Finally, the patient was diagnosed with multiple paraganglioma. This entity is associated with mutations in the SDHB-C-D genes. An SDHD mutation was found in our patient. The genetic bases, mutations, genotypephenotype associations, and tumorigenesis of SDH are currently being studied. The present article provides a review of the most recent data.