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Table 1 MRKHS MRI findings of five large sample sized studies in comparison to our study

From: Clinical and radiological presentation of familial Mayer-Rokitansky Küster-Hauser syndrome in three sisters with literature review

Authors

Bhayana A et al. 2019 [4]

Boruah, Deb Kumar et al. 2017 [5]

Hall-Craggs et al. 2013 [6]

Yoo R et al. 2013 [2]

Kara, Taylan et al. 2013 [15]

Sample size

25

11

61

15

16

Lateral bud

Rt: present in 23/25

Lt: present in 18/25

It is caudal and anterior to ovaries

Volume is 0.5

Bilateral in 9/11

Rt bud was 2.26 ± 3.3

left bud was 1.27 ± 1.1

54 were bilateral, and 7 were unilateral

All has bilateral bud Volume was 2.64 ± 0.65

Paramedian/midline bud:

18, 20/25

3/11

 

In 87% (13/15) of the cases

Uterine hypoplasia or remnant uterus was detected in 11 patients (68.8%)

Fibrous bands

25/25

7/11

All

Vagina

Proximal is rudimentary and the distal is present in 25/25

Upper 2/3rd is absent in nine patients

Absent vagina in 22 patients (33%). The mean vaginal length was 2.0 cm (range, 1.0–6.5 cm)

The upper two-thirds was absent in all cases, whereas the lower one-third was present in 93% (14/15) of the cases

 

Ovaries

25/25

11/11 present, one patient has ectopic in the Lt inguinal canal and Rt iliac fossa

The mean volume of Rt ovary was 4.74 ± 2.58 and Lt ovary was 4.65 ± 2.2

Bilateral ovaries were present in 54 patients

Ectopic ovaries were found in 27 patients. The ectopic ovaries were mainly in the pelvis. The range of ovarian volume was 1.0–33.1 mL, with a mean volume of 10.1 mL

All patients had bilateral ovaries located in the pelvis

Ovaries were seen in 10 patients (62.5%), 2/10 were ectopic

Renal

Agenesis of kidney: 3/25

Ectopic pelvic kidney 1/25

  

Unilateral renal agenesis

Renal agenesis 2

Horseshoe kidney 1

Ectopic kidney 2 Urachal remnant 1

Spine

Lumbosacral transition: 2/25

sacral agenesis 1/25

Scoliosis 1/25

  

Four cases: (sacralization of lumbar vertebra in 3 cases, mild scoliosis in one case)

-L5 spina bifida

-Bilateral hemisacralization, -Rotoscoliosis in only one case

-Coccygeal vertebral fusion1

Cardiac

Type

Type I 19/25, type II 6/25  

Type I 8/11, type II 3/11

 

Type I 9/15

Type II 4/15

Type I 10/16

Type II 6/16