Table 3.
Classification and extragenital anomalies associated with MRKH syndrome reported in large cohorts (> 100 patients)
| Study | Oppelt et al., 2006 [13] | Creatsas et al., 2010 [86] | Oppelt et al., 2012 [101] | Lalatta et al., 2015 [14] | Rall et al., 2015 [103] | Willemsen and Kluivers, 2015 [104] | Kapczuk et al., 2016 [105] | Herlin et al., 2016 [3] | Deng et al., 2019 [15] | |||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Population | Mixed | Greece | Germany | Italy | Germany | Netherlands | Poland | Denmark | China | |||||||||
| Setting | Literature review | Tertiary center | Two tertiary centers | Tertiary center | Tertiary center | Tertiary center | Tertiary center | Nationwide | Tertiary center | |||||||||
| No. of patients | n = 512 | n = 200 | n = 284 | n = 115 | n = 346 | n = 254 | n = 125 | n = 168 | n = 274 | |||||||||
| Classification | ||||||||||||||||||
| Type I (isolated) | 333 | (64%) | NS | 156 | (55%) | 83 | (72%) | 184 | (53%) | 160 | (69%)b | 57 | (46%) | 65 | (57%)d | 197 | (72%) | |
| Type II (syndromic) | 127 | (36%) | NS | 126 | (44%) | 32 | (28%) | 162 | (47%) | 72 | (31%) | 68 | (54%) | 50 | (43%) | 77 | (28%) | |
| MURCS association | 61 | (12%) | NS | NS | 6 | (6%) | 19 | (5%) | 58 | (25%) | 52 | (42%) | NS | 9 | (3%) | |||
| Renal malformations | 166 | (32%) | 89 | (45%) | 85 | (30%) | 23 | (20%) | 92 | (27%) | 72 | (31%) | 36 | (29%) | 38 | (34%)e | 32 | (13%) |
| Unilateral renal agenesis | NS | 62 | (31%) | 53 | (19%) | NS | 44 | (13%) | 43 | (17%) | 19 | (15%) | 24 | (22%) | 17 | 7% | ||
| Pelvic/ectopic kidney | NS | 10 | (5%) | 26 | (9%) | NS | 27 | (8%) | 13 | (5%) | 9 | (7%) | 7 | (6%) | 10 | |||
| Horseshoe kidney | NS | 9 | (5%) | 3 | (1%) | NS | 1 | (< 1%) | 5 | (2%) | 1 | (1%) | 3 | (3%) | 0 | |||
| Duplex kidney | NS | 8 | (4%) | 9 | (3%) | NS | 12 | (3%) | NS | 3 | (2%) | 5 | (5%) | 2 | ||||
| Skeletal malformations | 65 | (12%) | 18 | (9%) | 54 | (19%) | 6a | (5%) | 71 | (21%) | 59 | (32%)c | 40 | (32%) | 21 | (13%) | 51 | (41%) |
| Scoliosis | NS | 11 | (6%) | NS | NS | 38 | (11%) | NS | 21 | (17%) | NS | 43 | (34%) | |||||
| Klippel-Feil anomaly | NS | 3 | (2%) | NS | NS | 3 | (1%) | 9 | (5%) | 4 | (3%) | NS | NS | |||||
| Hemivertebrae | NS | 4 | (2%) | NS | NS | NS | NS | NS | NS | NS | ||||||||
| Other | NS | NS | NS | NS | 14 | (4%) | NS | 20 | (16%) | NS | 18 | (14%) | ||||||
| Cardiac malformations | 6 | (1%) | NS | 10 | (4%) | 6 | (5%) | NS | NS | 6 | (5%) | 6 | (4%) | 4 | (1%) | |||
| Hearing impairment | NS | 9 | (5%) | NS | 4 | (3%) | 14 | (4%) | NS | 4 | (3%) | 3 | (2%) | 1 | (< 1%) | |||
| Other rare features | Neurological anomaly, n = 7; inguinal hernia, n = 27 | Neurological anomaly, n = 14. | Inguinal hernia, n = 54; AA, n = 3; VACTERL association, n = 1. | Inguinal hernia, n = 8 | AA, n = 3; VACTERL association, n = 2; hypothelia, n = 1 | AA, n = 5 | ||||||||||||
Abbreviations: AA anal atresia, NS not stated, VACTERL,
aThe authors excluded scoliosis as a skeletal malformation
bClassification was possible in 232 patients
cSkeletal imaging were performed in 184 patients
dFifty-three patients were not classified
eRenal examinations were performed in 111 of 168 patients