Mayer-Rokitansky-Küster-Hauser syndrome associated with 7q11.23 microduplication: A case report

Abstract

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.

Keywords

MRKHS / Müllerian aplasia / Mayer-Rokitansky-Küster-Hauser Syndrome / 7q11.23 microduplication

Ethical approval

Study approval was granted by the Ethics Committee of the University of Brasília (nº 60695716.1.0000.5558). All patients provided informed written consent for the molecular investigation.

Declaration of Competing Interest

The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper.

Acknowledgements

The authors are grateful to the patients who participated in the study. We are grateful to Michael Derek Taylor for English revision. This study was partially supported by Coordenação de Aperfeiçoamento de Pessoal de Nível Superior – Brasil (CAPES), Conselho Nacional de Desenvolvimento Científico e Tecnológico and Fundação de Apoioà Pesquisa do Distrito Federal (FAP/DF-grant number 193001786/2017).

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