Mayer-Rokitansky-Küster-Hauser syndrome associated with 7q11.23 microduplication: A case report
Introduction: Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS) is characterized by the congenital absence of the uterus and vagina in females with 46, XX karyotype. The genetic etiology remains poorly understood. Case presentation: We described a 29-year-old female patient with a main complaint of pr...
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| Main Authors: | , , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
KeAi Communications Co., Ltd.
2025-06-01
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| Series: | Global Medical Genetics |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2699940425000402 |
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| Summary: | Introduction: Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS) is characterized by the congenital absence of the uterus and vagina in females with 46, XX karyotype. The genetic etiology remains poorly understood. Case presentation: We described a 29-year-old female patient with a main complaint of primary amenorrhea. The MRKHS diagnosis was confirmed, and molecular analysis revealed a 7q11.23 microduplication in the proband that was shown to be inherited from her mother. In the literature, müllerian malformations have been reported in only a few cases of 7q11.23 microduplication. However, the abnormalities observed in our patient have not been described previously. To the best of our knowledge, this is the first documented case of a patient with the coexistence of 7q11.23 microduplication syndrome and MRKHS. Discussion/conclusion: Identification of the 7q11.23 duplication could suggest a new candidate region for MRKHS and add to the already described signs of 7q11.23 microduplication syndrome. |
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| ISSN: | 2699-9404 |