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 | Â | Â | Â | Â |
Vesicoureteral reflux | 2/4 | 1/1 | 3/5 (60%) | |
Bladder dilation/hypertrophy | 5/58 | NR | 5/58 (9%) | |
Duplex kidney | 1/7 | 1/4 | 2/11 (18%) | |
Hydronephrosis | 6/70 | NR | 6/70 (9%) | |
Pyelonephritis | 3/22 | 1/4 | 4/26 (15%) | |
Renal stones | 2/18 | NR | 2/18 (11%) | |
Ureteral dilation | 5/53 | NR | 5/53 | [77] |
Genitals | Â | Â | Â | Â |
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%) | |
Hypospadias | 3/13 | NA | 3/13 (23%) | |
Hypogenitalism | 6/15 | 1/1 | 7/16 (44%) |