Ultrasonic features of patients with Mayer-Rokitansky-Kuster-Hauser syndrome

doi:10.3877/cma.j.issn.1673-5250.2020.03.016

Objective

To explore features of abdominal ultrasonic images of patients with Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome.

Methods

From 2000 to 2018, a total of 17 patients with MRKH syndrome diagnosed in West China Second University Hospital, Sichuan University due to " no menarche after entering puberty" , were selected as research subjects. Their abdominal ultrasound diagnosis results were analyzed retrospectively. The procedure followed in this study was in line with the World Medical Association Declaration of Helsinki revised in 2013.

Results

The average age of 17 patients was (18±5) years old, and results of karyotype analysis and serum sex hormone levels examination were normal. Among them, 15 cases were diagnosed as MRKH syndrome type Ⅰ (88.2%), and the remaining 2 cases were diagnosed as MRKH syndrome type Ⅱ (11.8%). Ultrasound examination results showed that no vaginal gas line echo were found in all patients. Among them, 1 case (5.9%) had no uterus, 6 cases (35.3%) had a normal developing uterus, 3 cases (17.6%) had a normal uterus without cervix, 2 cases (11.8%) had unilateral primordial uterus without cervix, 4 cases (23.5%) had bilateral primordial uterus, 1 case (5.9%) had double uterus without cervix. There were 10 cases (58.8%) had normal endometrium, 3 cases (17.6%) had cystic space in adnexa area, 2 cases (11.8%) had malformation of renal duplication.

Conclusions

No vaginal gas line sonogram is the main ultrasound manifestation of patients with MRKH syndrome, and when having ultrasound examination, attention should be paid to whether they have other malformations or not. Abdominal ultrasonography could provide a imaging basis for accurate diagnosis evidences and classification of patients with MRKH syndrome.

Key words: Mullerian aplasia, Gynatresia, congenital, Female urogenital diseases, Ultrasonography, Menarche, Teen-age girls

图1 MRKH综合征超声检查的特征性表现(无阴道气体线回声)

表1 17例MRKH综合征患者腹部超声检查结果[例数(%)]

腹部超声检查结果	所占比例	腹部超声检查结果	所占比例
双侧始基子宫，无阴道	4(23.5)	双子宫，无宫颈，无阴道	1(5.9)
子宫发育正常，无阴道	6(35.3)	功能性子宫内膜	10(58.8)
正常宫体，无宫颈，无阴道	3(17.6)	子宫肌瘤	2(11.8)
单侧始基子宫，无宫颈，无阴道	2(11.8)	附件区囊性占位	3(17.6)
无子宫，无阴道	1(5.9)	左肾重复肾	2(11.8)

表1 17例MRKH综合征患者腹部超声检查结果[例数(%)]

腹部超声检查结果	所占比例	腹部超声检查结果	所占比例
双侧始基子宫，无阴道	4(23.5)	双子宫，无宫颈，无阴道	1(5.9)
子宫发育正常，无阴道	6(35.3)	功能性子宫内膜	10(58.8)
正常宫体，无宫颈，无阴道	3(17.6)	子宫肌瘤	2(11.8)
单侧始基子宫，无宫颈，无阴道	2(11.8)	附件区囊性占位	3(17.6)
无子宫，无阴道	1(5.9)	左肾重复肾	2(11.8)

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