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Table 3 Classification and extragenital anomalies associated with MRKH syndrome reported in large cohorts (> 100 patients)

From: Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: a comprehensive update

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
  1. Abbreviations: AA anal atresia, NS not stated, VACTERL,
  2. aThe authors excluded scoliosis as a skeletal malformation
  3. bClassification was possible in 232 patients
  4. cSkeletal imaging were performed in 184 patients
  5. dFifty-three patients were not classified
  6. eRenal examinations were performed in 111 of 168 patients