Patient
|
Chromosomes
|
Steroid profile
|
FGFR2 mutation
|
Genitalia
|
NC (16666) | 46,XY | Not available for analysis | S351C | Normal male |
ID (20554) | 46,XX | Normal | S351C | Normal female |
HD (14506) | 46,XX | Normal | S351C | Normal female |
MN (15441) | 46,XY | Normal | C342R | Normal male |
MR (14837) | 46,XX | Not available for analysis | P276V | Normal female |
DW (11314) | 46,XX | Normal | C342S | Normal female |
MA | 46,XY | Abnormal | T290C | Normal male |
JH (24019) | 46,XX | Abnormal | None established | Vestigial uterus30 |
| | | | Small vagina |
| | | | Vulval septum |
SP (14683) | 46,XX | Abnormal | None established | Clitoromegaly (1 cm) |
| | | | Hooded prepuce |
| | | | Fused labia |
| | | | (fig 1) |
BM | 46,XX | Abnormal | Not available for analysis | Clitoromegaly |
| | | | Fused labia |
BW (24872) | 46,XY | Abnormal | None established | Normal male |
DK | 46,XX | Abnormal | Not available for analysis | Ambiguous genitalia |
| | | | Fused labia |
| | | | Clitoromegaly |
MJ | 46,XX | Abnormal | Not available for analysis | Ambiguous genitalia |
| | | | Chordee |
KM | 46,XX | Normal | None established | Normal female |
RS | 46,XX | Normal | None established | Normal female |
MF | 46,XX | Normal | None established | Normal female29
|