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.

Hersmus et al.

Hersmus et al. BMC Medical Genetics 2012 13:108   doi:10.1186/1471-2350-13-108

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