Table 3: Syndromic congenital anosmia and Kallmann syndrome.
Patients N = 22 | Gender | Age | Genetic diagnosis | UPSIT | STOE | MRI | Pituitary gland | Olfactory central structures | OB evaluation SR | OB evaluation SM |
1 | F | 34 | ND | 3 | c | D | N | ND | 0 | 0 |
2 | M | 18 | KAL1 | 3 | c | D | N | ND | 2 | 2 |
3 | F | 60 | ND | ND | c | ND | ND | ND | ND | ND |
4 | M | 16 | ND | ND | c | D | N | ND | 0 | 0 |
5 | F | 36 | ND | ND | c | D | N | ND | 0 | 0 |
6 | M | 18 | ND | ND | c | D | N | ND | 2 | 2 |
7 | F | 32 | ND | 3 | c | ND | ND | ND | ND | ND |
8 | F | 18 | ND | ND | c | D | N | aN | 2 | 2 |
9 | M | 16 | AWAITED | 3 | c | D | N | aN | 2 | 2 |
10 | F | 21 | FGFR1/PROKR2 | 3 | ND | D | N | ND | 2 | 2 |
11 | F | 9 | KAL1 | 3 | c | D | N | ND | 2 | 2 |
12 | F | 28 | ND | ND | c | ND | ND | ND | ND | ND |
13 | M | 14 | ND | ND | c | D | N | aN | 1 | 1 |
14 | F | 16 | ND | ND | c | D | N | ND | 2 | 2 |
15 | M | 9 | KAL1 | 3 | c | D | N | aN | 2 | 2 |
16 | M | 21 | KAL1 | 3 | c | D | N | ND | 2 | 2 |
17 | F | 16 | ND | ND | c | D | N | ND | 1 | 1 |
18 | M | 24 | ND | 3 | c | D | N | ND | 2 | 2 |
19 | F | 17 | ND | ND | c | D | N | ND | 1 | 1 |
20 | M | 15 | ND | 3 | c | ND | ND | ND | ND | ND |
21 | F | 15 | ND | 3 | c | ND | ND | ND | ND | ND |
22 | M | 30 | ND | ND | c | D | N | ND | 2 | 2 |
M: male; F: female; D: done; ND: not done; N: normal; aN: abnormal; SR: radiologist SR; SM: radiologist SM; MRI: magnetic resonance imaging.
UPSIT (according to R.L. Doty): 0: normosmia; 1: mild hyposmia; 2: severe hyposmia; 3: anosmia.
STOE (suprathreshold olfactory evaluation): a: normosmia; b: hyposmia; c: anosmia.
OB (olfactory bulb): 0: OB normal; 1: OB hypoplasia; 2: OB aplasia.