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

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.

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.

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.