Clinical and radiological presentation of familial Mayer-Rokitansky Küster-Hauser syndrome in three sisters with literature review
Abstract Background Mayer-Rokitansky Küster-Hauser syndrome MRKHS represents class I of congenital Müllerian anomaly, which resulted from interruption of embryonic development of the paramesonephric ducts in early pregnancy. It is characterized by uterine and proximal vaginal aplasia/hypoplasia asso...
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| Format: | Article |
| Language: | English |
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SpringerOpen
2022-09-01
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| Series: | Middle East Fertility Society Journal |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s43043-022-00122-6 |
| _version_ | 1811208824763187200 |
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| author | Hana’ Qudsieh Suhair Qudsieh Nesrin Mwafi |
| author_facet | Hana’ Qudsieh Suhair Qudsieh Nesrin Mwafi |
| author_sort | Hana’ Qudsieh |
| collection | DOAJ |
| description | Abstract Background Mayer-Rokitansky Küster-Hauser syndrome MRKHS represents class I of congenital Müllerian anomaly, which resulted from interruption of embryonic development of the paramesonephric ducts in early pregnancy. It is characterized by uterine and proximal vaginal aplasia/hypoplasia associated with variable degree of cardiac, renal, and skeletal anomalies. We aimed to review and analyze clinically and radiologically MRKHS relying on three young sisters’ cases who presented with primary amenorrhea and were found to have features of MRKHS. Case presentation Three sisters aging 17, 20, and 25 years old presented with primary amenorrhea. Clinical workup was performed followed by ultrasound and MRI of the abdomen and pelvis, spine X-ray, audiogram, echocardiogram, hormonal study, and karyotyping. The three sisters had normal sex hormones and mature secondary sexual characteristic features. Additionally, cardiac valvular regurgitation and renal hypoplasia were recognized. Cytogenetic confirmed normal female 46 XX karyotype. MRI showed variable size and appearance of Müllerian remnant tissue of the uterus and proximal vagina. Conclusion MRKHS shows variable size and appearance of Müllerian remnant structures; however, it seems that the smaller the volume of remnant tissue the more severe associated anomalies. Associated valvular cardiac disease is documented, which was not reported before. |
| first_indexed | 2024-04-12T04:28:12Z |
| format | Article |
| id | doaj.art-b8fcf0b72cd148f4afa0830a6ff26e3b |
| institution | Directory Open Access Journal |
| issn | 2090-3251 |
| language | English |
| last_indexed | 2024-04-12T04:28:12Z |
| publishDate | 2022-09-01 |
| publisher | SpringerOpen |
| record_format | Article |
| series | Middle East Fertility Society Journal |
| spelling | doaj.art-b8fcf0b72cd148f4afa0830a6ff26e3b2022-12-22T03:48:00ZengSpringerOpenMiddle East Fertility Society Journal2090-32512022-09-0127111010.1186/s43043-022-00122-6Clinical and radiological presentation of familial Mayer-Rokitansky Küster-Hauser syndrome in three sisters with literature reviewHana’ Qudsieh0Suhair Qudsieh1Nesrin Mwafi2Department of Medicine/Radiology, Faculty of Medicine, Mutah UniversityDepartment of Clinical Sciences/Obstetrics and Gynecology, Faculty of Medicine, Yarmouk UniversityDepartment of Biochemistry and Molecular Biology, Faculty of Medicine, Mutah UniversityAbstract Background Mayer-Rokitansky Küster-Hauser syndrome MRKHS represents class I of congenital Müllerian anomaly, which resulted from interruption of embryonic development of the paramesonephric ducts in early pregnancy. It is characterized by uterine and proximal vaginal aplasia/hypoplasia associated with variable degree of cardiac, renal, and skeletal anomalies. We aimed to review and analyze clinically and radiologically MRKHS relying on three young sisters’ cases who presented with primary amenorrhea and were found to have features of MRKHS. Case presentation Three sisters aging 17, 20, and 25 years old presented with primary amenorrhea. Clinical workup was performed followed by ultrasound and MRI of the abdomen and pelvis, spine X-ray, audiogram, echocardiogram, hormonal study, and karyotyping. The three sisters had normal sex hormones and mature secondary sexual characteristic features. Additionally, cardiac valvular regurgitation and renal hypoplasia were recognized. Cytogenetic confirmed normal female 46 XX karyotype. MRI showed variable size and appearance of Müllerian remnant tissue of the uterus and proximal vagina. Conclusion MRKHS shows variable size and appearance of Müllerian remnant structures; however, it seems that the smaller the volume of remnant tissue the more severe associated anomalies. Associated valvular cardiac disease is documented, which was not reported before.https://doi.org/10.1186/s43043-022-00122-6Mayer-Rokitansky Küster-Hauser syndrome (MRKHS)Müllerian duct Primary amenorrheaCongenital anomaliesKaryotype |
| spellingShingle | Hana’ Qudsieh Suhair Qudsieh Nesrin Mwafi Clinical and radiological presentation of familial Mayer-Rokitansky Küster-Hauser syndrome in three sisters with literature review Middle East Fertility Society Journal Mayer-Rokitansky Küster-Hauser syndrome (MRKHS) Müllerian duct Primary amenorrhea Congenital anomalies Karyotype |
| title | Clinical and radiological presentation of familial Mayer-Rokitansky Küster-Hauser syndrome in three sisters with literature review |
| title_full | Clinical and radiological presentation of familial Mayer-Rokitansky Küster-Hauser syndrome in three sisters with literature review |
| title_fullStr | Clinical and radiological presentation of familial Mayer-Rokitansky Küster-Hauser syndrome in three sisters with literature review |
| title_full_unstemmed | Clinical and radiological presentation of familial Mayer-Rokitansky Küster-Hauser syndrome in three sisters with literature review |
| title_short | Clinical and radiological presentation of familial Mayer-Rokitansky Küster-Hauser syndrome in three sisters with literature review |
| title_sort | clinical and radiological presentation of familial mayer rokitansky kuster hauser syndrome in three sisters with literature review |
| topic | Mayer-Rokitansky Küster-Hauser syndrome (MRKHS) Müllerian duct Primary amenorrhea Congenital anomalies Karyotype |
| url | https://doi.org/10.1186/s43043-022-00122-6 |
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