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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