Table 1.
Characteristics of SDHX variant positive patients.
Characteristics | Total (n) | With PPGL | No PPGL | Age (years) at first PPGL diagnosis range (median) |
---|---|---|---|---|
Females, n | 30 | 14 | 16 | 17–65 (40.5) |
Males, n | 29 | 10 | 19 | 12–73 (46.5) |
Total, n | 59 | 24 | 35 | 12–73 (42.5) |
Genetic variants | SDHA | SDHB | SDHC | SDHD |
Total (n) | 2 | 51 | 4 | 2 |
Patients with PPGL diagnosis, n | 1 | 17 | 4 | 1 |
PGL, n | 1 | 13 | 4 | 0 |
PCC, n | 0 | 4 | 0 | 1 |
RCC, n | 0 | 2 | 0 | 1 |
Patients, n | 1 | 7 | 2 | 2 |
Clinical symptoms reported at PPGL diagnosis, n | 0 | 8 | 3 | 0 |
A patient may display both a phaeochromocytoma and a paraganglioma or a renal cell carcinoma (RCC), therefore the total n is larger than total number of patients with PPGLs.
PCC, phaeochromocytoma; PGL, paraganglioma; PPGL, phaeochromocytoma and paraganglioma; SDHX, succinate dehydrogenase genetic variants.