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Updated: Feb 4, 2026

Laparoscopic Oocyte Retrieval and Cryopreservation during Vaginoplasty for Treatment of Mayer-Rokitansky-Kuster-Hauser Syndrome
Published on: May 10, 2022
Exome and copy number variation analyses of Mayer-Rokitansky-Küster- Hauser syndrome
Kazumi Takahashi1,2, Takahide Hayano3, Ryota Sugimoto4
11Department of Obstetrics and Gynecology, Tokai University School of Medicine, Isehara, Kanagawa Japan.
Abstract:
Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is characterized by congenital absence of the vagina and uterus. We conducted genome-wide SNP analyses and exome sequencing to detect the causes of MRKH syndrome. We identified de novo variants of MYCBP2, NAV3, and PTPN3 in three families and a variant of MYCBP2 in a sporadic case. Here, we demonstrated the partial genetic makeup of Japanese MRKH syndrome.
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