Table 1.
Overview of sex, karyotype, SRY variants and gonadal histology in mosaic DSD patients
| Case No | Sex | Karyotype (%) [%] | SRY Variants |
Histology of the gonads |
UGT | OT | NGT | Other | NA |
Age biopsy/gonadectomy |
||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T | O | S # | Years | |||||||||
|
1 |
F |
45X/46XY (10%:90%) [58%/42%] |
|
|
|
+ (L + R) |
|
|
|
|
|
17 |
|
2 |
M |
45,X/46,X,der(Y)(pter-q11.2::q11.2-pter) (44%:56%) [T:71%/29%; UGT: 63%/37%] |
|
+ (R) |
|
|
+ (L) |
|
|
|
|
6 months |
|
3 |
F |
45X/46XY (56%:44%) [Y present§] |
|
|
|
|
+ (GB) (L) |
|
|
|
|
17 |
|
4 |
M |
45X/46X iso Y (NA) [96%/4%] |
|
|
|
+ (L) |
|
|
|
|
|
6 months |
|
5 |
F |
45X/46XY (50%:50%) [NA] |
|
|
|
+ (R) |
|
|
|
|
|
16 |
|
6 |
F |
45X/46X iso Y (NA) [NA] |
|
|
|
+ (L + R) |
|
|
|
|
|
1 |
|
7 |
M |
45X/46XY (NA) [NA] |
|
|
|
|
|
|
+ (R) |
|
|
1 |
|
8 |
M |
45X/46XY (50%:50%) [NA] |
|
+ (R) & |
|
|
|
|
|
|
|
9 months |
|
9 |
M |
45X/46XY (NA) [NA] |
|
|
|
|
|
|
|
|
+ |
NA |
|
10 |
F |
45X/46XY (NA) [NA] |
|
|
|
+ (L + R) |
|
|
|
|
|
15 |
|
11 |
M |
45X/46XY (NA) [NA] |
|
|
|
|
|
|
|
|
+ |
3 |
|
12 |
F |
46XX/46XY (94%:6%) [T:16%/84%; O: 68%/32%] |
|
|
|
|
|
+ (NA) |
|
|
|
1 |
|
13 |
M |
45X/46XY (NA) [NA] |
|
|
|
|
|
|
|
|
+ |
5 |
|
14 |
M |
45X/46XX/46XY (39%:49%:12%) [NA] |
c.49delT 21% |
+ (L) |
|
|
|
|
|
|
|
3 |
|
Reference |
Sex |
Karyotype (%) [%} |
SRY Variants |
T |
O |
S |
UGT |
OT |
NGT |
Other |
NA |
Years |
| [23] |
F |
45X/46XXY (65%/35%) [NA@] |
p. Y3X |
|
+ (L + R) ‡ |
|
|
|
|
|
|
NA |
| [11] |
F |
45X/46XY (82%/18%) [L:94%/6% R:98%/2% €] |
p.S18N |
|
|
+ (L + R) † |
|
|
|
|
|
17 |
| [11] |
F |
45X/46X mar (Y) (95.5%/0.5%) [100%/0% €] |
p.S18N |
|
|
+ (L + R) † |
|
|
|
|
|
14 |
| [21] |
F |
45X/46X psu dic (Y)(pter-q11::q11-pter) (40%/60%) [NA@] |
p.R59G |
|
|
+ (L + R) |
|
|
|
|
|
24 |
| [12] |
F |
45X/46XY (80%/20%) [NA] |
p.N82X |
|
|
+ (NA) * |
|
|
|
|
|
24 |
| [12] |
F |
45X/46XY (86%/14%) [NA] |
p.L159TfsX167 |
|
|
+ (NA) * |
|
|
|
|
|
20 |
| [12] |
F |
45X/46XY (89%/11%) [NA] |
p.Q74H |
|
|
+ (L + R) |
|
|
|
|
|
22 |
| [14] | F | 45X/46XY (15%/85%) [NA] | rs11575897 | + (GB) (L + R) $ | 13.5 | |||||||
(%): Karyotype in blood, [%]: Gonadal karyotype, GB: Gonadoblastoma, NA: Not Available, T: Testis, O: Ovary, S: Streak, Tissue, OT: OvoTestis,
Ov St: Ovarian Stroma, UGT: Undifferentiated Gonadal, NGT: No Gonadal Tissue, L: Left side, R: Right side.
# Including ovarian stroma.
§ Not further specified.
@ Blood karyotype confirmed on gonadal tissue, not further specified.
& Contains germ cells positive for OCT3/4, TSPY, SCF: at risk for malignant transformation (pre-CIS).
‡ Gonads contained primordial follicles, not further specified.
† Macroscopically streak.
€ Karyotype assessed in fibroblasts cultured from gonads.
* Stromal tissue with similarities to testicular histopathology present, not further specified.
$ Described as Left dysgenetic testis with GB, Right dysgenetic gonad.