Identification of Genetic Causes in Mayer-Rokitansky-Küster-Hauser (MRKH) Syndrome: A Systematic Review of the Literature
Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a congenital condition characterizing females with absence of the uterus and part of the vagina. Several genetic defects have been correlated with the presence of MRKH; however, the exact etiology is still unknown due to the complexity of the genetic...
| Main Authors: | , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
MDPI AG
2022-06-01
|
| Series: | Children |
| Subjects: | |
| Online Access: | https://www.mdpi.com/2227-9067/9/7/961 |
| _version_ | 1797406973627465728 |
|---|---|
| author | Varvara Ermioni Triantafyllidi Despoina Mavrogianni Andreas Kalampalikis Michael Litos Stella Roidi Lina Michala |
| author_facet | Varvara Ermioni Triantafyllidi Despoina Mavrogianni Andreas Kalampalikis Michael Litos Stella Roidi Lina Michala |
| author_sort | Varvara Ermioni Triantafyllidi |
| collection | DOAJ |
| description | Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a congenital condition characterizing females with absence of the uterus and part of the vagina. Several genetic defects have been correlated with the presence of MRKH; however, the exact etiology is still unknown due to the complexity of the genetic pathways implicated during the embryogenetic development of the Müllerian ducts. A systematic review (SR) of the literature was conducted to investigate the genetic causes associated with MRKH syndrome and Congenital Uterine Anomalies (CUAs). This study aimed to identify the most affected chromosomal areas and genes along with their associated clinical features in order to aid clinicians in distinguishing and identifying the possible genetic cause in each patient offering better genetic counseling. We identified 76 studies describing multiple genetic defects potentially contributing to the pathogenetic mechanism of MRKH syndrome. The most reported chromosomal regions and the possible genes implicated were: 1q21.1 (<i>RBM8A</i> gene), 1p31-1p35 (<i>WNT4</i> gene), 7p15.3 (<i>HOXA</i> gene), 16p11 (<i>TBX6</i> gene), 17q12 (<i>LHX1</i> and <i>HNF1B</i> genes), 22q11.21, and Xp22. Although the etiology of MRKH syndrome is complex, associated clinical features can aid in the identification of a specific genetic defect. |
| first_indexed | 2024-03-09T03:34:32Z |
| format | Article |
| id | doaj.art-616120bd203c4a179bd5362483a58161 |
| institution | Directory Open Access Journal |
| issn | 2227-9067 |
| language | English |
| last_indexed | 2024-03-09T03:34:32Z |
| publishDate | 2022-06-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Children |
| spelling | doaj.art-616120bd203c4a179bd5362483a581612023-12-03T14:50:52ZengMDPI AGChildren2227-90672022-06-019796110.3390/children9070961Identification of Genetic Causes in Mayer-Rokitansky-Küster-Hauser (MRKH) Syndrome: A Systematic Review of the LiteratureVarvara Ermioni Triantafyllidi0Despoina Mavrogianni1Andreas Kalampalikis2Michael Litos3Stella Roidi4Lina Michala51st Department of Obstetrics and Gynecology, ‘Alexandra’ General Hospital, National and Kapodistrian University of Athens, 80 Vasilissis Sofias Ave, 11528 Athens, GreeceMolecular Biology Unit, Division of Human Reproduction, 1st Department of Obstetrics and Gynecology, ‘Alexandra’ General Hospital, National and Kapodistrian University of Athens, 80 Vasilissis Sofias Ave, 11528 Athens, Greece1st Department of Obstetrics and Gynecology, ‘Alexandra’ General Hospital, National and Kapodistrian University of Athens, 80 Vasilissis Sofias Ave, 11528 Athens, GreeceDepartment of Obstetrics & Gynecology, Konstantopouleio General Hospital of Nea Ionia, 14233 Athens, Greece1st Department of Obstetrics and Gynecology, ‘Alexandra’ General Hospital, National and Kapodistrian University of Athens, 80 Vasilissis Sofias Ave, 11528 Athens, Greece1st Department of Obstetrics and Gynecology, ‘Alexandra’ General Hospital, National and Kapodistrian University of Athens, 80 Vasilissis Sofias Ave, 11528 Athens, GreeceMayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a congenital condition characterizing females with absence of the uterus and part of the vagina. Several genetic defects have been correlated with the presence of MRKH; however, the exact etiology is still unknown due to the complexity of the genetic pathways implicated during the embryogenetic development of the Müllerian ducts. A systematic review (SR) of the literature was conducted to investigate the genetic causes associated with MRKH syndrome and Congenital Uterine Anomalies (CUAs). This study aimed to identify the most affected chromosomal areas and genes along with their associated clinical features in order to aid clinicians in distinguishing and identifying the possible genetic cause in each patient offering better genetic counseling. We identified 76 studies describing multiple genetic defects potentially contributing to the pathogenetic mechanism of MRKH syndrome. The most reported chromosomal regions and the possible genes implicated were: 1q21.1 (<i>RBM8A</i> gene), 1p31-1p35 (<i>WNT4</i> gene), 7p15.3 (<i>HOXA</i> gene), 16p11 (<i>TBX6</i> gene), 17q12 (<i>LHX1</i> and <i>HNF1B</i> genes), 22q11.21, and Xp22. Although the etiology of MRKH syndrome is complex, associated clinical features can aid in the identification of a specific genetic defect.https://www.mdpi.com/2227-9067/9/7/961Mayer-Rokitansky-Küster-Hauser (MRKH) syndromeRokitanskyuterine aplasiauterine anomaliesgenetics |
| spellingShingle | Varvara Ermioni Triantafyllidi Despoina Mavrogianni Andreas Kalampalikis Michael Litos Stella Roidi Lina Michala Identification of Genetic Causes in Mayer-Rokitansky-Küster-Hauser (MRKH) Syndrome: A Systematic Review of the Literature Children Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome Rokitansky uterine aplasia uterine anomalies genetics |
| title | Identification of Genetic Causes in Mayer-Rokitansky-Küster-Hauser (MRKH) Syndrome: A Systematic Review of the Literature |
| title_full | Identification of Genetic Causes in Mayer-Rokitansky-Küster-Hauser (MRKH) Syndrome: A Systematic Review of the Literature |
| title_fullStr | Identification of Genetic Causes in Mayer-Rokitansky-Küster-Hauser (MRKH) Syndrome: A Systematic Review of the Literature |
| title_full_unstemmed | Identification of Genetic Causes in Mayer-Rokitansky-Küster-Hauser (MRKH) Syndrome: A Systematic Review of the Literature |
| title_short | Identification of Genetic Causes in Mayer-Rokitansky-Küster-Hauser (MRKH) Syndrome: A Systematic Review of the Literature |
| title_sort | identification of genetic causes in mayer rokitansky kuster hauser mrkh syndrome a systematic review of the literature |
| topic | Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome Rokitansky uterine aplasia uterine anomalies genetics |
| url | https://www.mdpi.com/2227-9067/9/7/961 |
| work_keys_str_mv | AT varvaraermionitriantafyllidi identificationofgeneticcausesinmayerrokitanskykusterhausermrkhsyndromeasystematicreviewoftheliterature AT despoinamavrogianni identificationofgeneticcausesinmayerrokitanskykusterhausermrkhsyndromeasystematicreviewoftheliterature AT andreaskalampalikis identificationofgeneticcausesinmayerrokitanskykusterhausermrkhsyndromeasystematicreviewoftheliterature AT michaellitos identificationofgeneticcausesinmayerrokitanskykusterhausermrkhsyndromeasystematicreviewoftheliterature AT stellaroidi identificationofgeneticcausesinmayerrokitanskykusterhausermrkhsyndromeasystematicreviewoftheliterature AT linamichala identificationofgeneticcausesinmayerrokitanskykusterhausermrkhsyndromeasystematicreviewoftheliterature |