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Table 8 Summary of urogenital issues found in patients with MDS reported in the literature; NR = not reported, NA = not applicable

From: A brief history of MECP2 duplication syndrome: 20-years of clinical understanding

Feature

Males

n/N

Females

n/N

Total

n/N (%)

References

Urinary system

    

Vesicoureteral reflux

2/4

1/1

3/5 (60%)

[9, 35, 36]

Bladder dilation/hypertrophy

5/58

NR

5/58 (9%)

[25, 45, 77]

Duplex kidney

1/7

1/4

2/11 (18%)

[5, 14]

Hydronephrosis

6/70

NR

6/70 (9%)

[14, 36, 56, 64, 77]

Pyelonephritis

3/22

1/4

4/26 (15%)

[43, 62]

Renal stones

2/18

NR

2/18 (11%)

[36, 69]

Ureteral dilation

5/53

NR

5/53

[77]

Genitals

    

Unilateral/bilateral cryptorchidism

50/140

NA

50/140 (36%)

[4, 5, 7,8,9, 12, 14, 16, 21, 22, 25, 29, 31, 32, 38, 51, 63, 69, 77, 85, 86]

Micropenis

12/77

NA

12/77 (16%)

[5, 40, 51, 77]

Hypospadias

3/13

NA

3/13 (23%)

[14, 46, 71]

Hypogenitalism

6/15

1/1

7/16 (44%)

[7, 9, 25, 29, 32]