Table 2 Clinical summary of patients and family members with the SDHB exon 3 deletion
From: The first Dutch SDHB founder deletion in paraganglioma – pheochromocytoma patients
Patient ID | Age at Diagnosis | Gender | Family Clinical History | Clinical Features |
|---|---|---|---|---|
BD1 | 41 | Female | Negative | Carotid body paraganglioma, left |
BD2 | NA | Female | Mother & brother with pheochromocytoma | Extra adrenal pheochromocytoma Parathyroid tumor |
BD3 | 35 | Male | Negative | Jugulotympanic paraganglioma with raised catecholamine levels. No evidence of pheochromocytoma |
BD4 | 28 | Male | Negative | Retroperitoneal paraganglioma and paraganglioma of the urinary bladder |
BD5 | 51 | Female | NA | Bilateral carotid body paraganglioma. Raised urine normetanephrine and dopamine levels, possible extra-adrenal paraganglioma |
BD6 | 12 | Female | Negative | Malignant extra-adrenal paraganglioma with bone metastases. Pituitary tumor. Paternal grandfather had pituitary tumor. |
BD7 | 50 | Male | Negative | Carotid body paraganglioma, left |
BD8 | 18 | Female | NA | Jugulotympanic paraganglioma |
BD9 | 28 | Male | NA | Retroperitoneal paraganglioma |