Table 3.
Pituitary morphology in our patients, according to IRF6 SNP rs2235371 genotype
| rs2235371 genotype | ||
|---|---|---|
| G/G | G/A | |
| Normal pituitary | 24 (31%)a | 4 (100%)a |
| MRI | 22 | 4 |
| CTb | 2 | 0 |
| Abnormal pituitary (MRI) | 39 (51%)a | 0 (0%)a |
| Classic triad | 2 | 0 |
| Other pituitary anomalies on MRIc | 2 | 0 |
| Aplastic AP | 1 | 0 |
| (Partial) empty sella | 2 | 0 |
| EPP, invisible AP | 1 | 0 |
| EPP, AP not described | 1 | 0 |
| EPP, normal AP | 8 | 0 |
| EPP, small AP | 8 | 0 |
| AP small, PP small | 6 | 0 |
| AP small, PP invisible | 3 | 0 |
| AP small, PP and stalk normal | 5 | 0 |
| No pituitary imaging available | 13 (17%) | 1 (20%) |
| Total | 76 | 5 |
EPP ectopic posterior pituitary, AP anterior pituitary
aG/G versus G/A: p = 0.017
bMRI not available
cOne patient had an ‘abnormal form’ of the pituitary (not otherwise specified), the other had a hypodense area within the pituitary