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Table 4: Impact of MTHFR polymorphism on the development of Mullerian duct structures in case group females.

From: MTHFR (C677T) polymorphism and its association with cytogenetic and clinical profile in individuals with primary amenorrhea

Radiology findings

CC (n = 22)

CT (n = 11)

TT (n = 12)

p-value

Uterus

NS

 Present (n = 7)

4 (8.8%)

2 (4.4%)

1 (2.2%)

 

 Hypoplastic ( =  20)

9 (20%)

3 (6.6%)

8 (17.8%)

 

 Absent (n = 18)

9 (20%)

6 (13.3%)

3 (6.6%)

 

Ovaries

0.024*

 Present (n = 21)

13 (28.9%)

6 (13.3%)

2 (2.2%)

 

 Streak (n = 9)

2 (4.4%)

2 (4.4%)

5 (11.1%)

 

 One absent (n = 4)

2 (4.4%)

0

2 (4.4%)

 

 Both absent (n = 11)

5 (15.5%)

3 (6.6%)

3 (6.6%)

 

Vagina

NS

 Present (n = 28)

15 (33.3%)

4 (8.8%)

9 (20%)

 

 Small (n = 5)

2 (4.4%)

2 (4.4%)

1 (2.2%)

 

 Blind (n = 5)

3 (6.6%)

2 (4.4%)

0

 

 Absent (n = 7)

2 (4.4%)

3 (6.6%)

2 (2.2%)

 

Hymen

NS

 Intact (n = 37)

19 (42.2%)

9 (20%)

9 (20%)

 

 Imperforated (n = 8)

3 (6.6%)

2 (4.4%)

3 (6.6%)

 

Kidneys

NS

 Present (n = 38)

19 (42.2%)

8 (17.8%)

11 (24.4%)

 

 One absent one ectopic (n = 4)

2 (4.4%)

2 (4.4%)

0

 

 Both ectopic (n = 1)

0

0

1 (2.2%)

 

 One absent (n = 2)

1 (2.2%)

1 (2.2%)

0

 

Cervix

NS

NS

 Present (n = 24)

12 (26.7%)

7 (15.5%)

5 (11.1%)

 

 Small (n = 9)

5 (11.1%)

1 (2.2%)

3 (6.6%)

 

 Absent (n = 12)

5 (11.1%)

3 (6.6%)

4 (8.8%)

 
  1. A one-way ANOVA test for analysis of variance was conducted: *p<0.05, and NS non-significant association was observed within the groups.