MRKH Syndrome: A feasible solution- Antai Hospital

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome (OMIM 277000) is the second most common cause of primary amenorrhea with an incidence rate of about one in 4000 to 5000 female births. It is defined by agenesis of the uterus and the upper part of the vagina in 46,XX females with normal ovarian function and normal secondary sexual characteristics. The syndrome may occur either in an isolated form (type 1) or in association with extragenital abnormalities (type 2) such as renal or skeletal malformations. The spectrum of malformation encountered in MRKH patients suggests the disease to originate from a developmental defect of the intermediate mesoderm during embryogenesis, yet the etiology of the syndrome remains largely enigmatic.

Specifically, chromosomal aberrations in 1q21.1, 16p11.2, 17q12, and 22q11 as well as mutations in LHX1, TBX6, RBM8A, and WNT9B have been linked to MRKH. Additionally, mutations of WNT4 cause an atypical form of the syndrome characterized by hyperandrogenism . LHX1, WNT4, and WNT9B play important roles in the formation of the Müllerian Ducts (MD) from the coelomic epithelium in gestational week six.

The freshly formed MDs start growing caudally along the Wolffian Ducts. By week eight, both MDs begin to fuse and make contact with the uterovaginal sinus. In males, the MDs start to regress after week ten under the influence of AMH and WNT7A. In females, however, they differentiate into ovaries, uterus, cervix, and vagina under control of ESR1, HOXA, and WNT genes.

Attempts to identify the molecular mechanisms of the syndrome have been hampered by the lack of a comprehensive transcriptome profile for primary tissue in MRKH patients. This obstacle can partly be attributed to the fact that patients do not always have uterus rudiments with a complete endometrial layer and to the scarcity of uterine tissue resulting from challenging collection and biobanking efforts. In order to close this gap, we have assembled a large and unique cohort of MRKH type 1 and 2 patients and profiled the transcriptome in endometrial tissue.

MRKH patients often have what we call “double absence”, which means the have congenital absence of both the uterus and vagina. However, these tissues are simply displaced or “lost”, situated in wrong places, causing this absence. The tissues that are required to build these missing organs are already present, simply “misplaced”. For example, it’s just like when you don’t have a shirt but you have all the cloth and materials you need to make a shirt. All you need is a tailor.

At Antai Hospital, our doctors are your tailors. Under the endoscope and microscope, our doctors can locate these “lost” tissues, and use them for the reconstruction surgery of the uterus and vagina. This treatment comes with a full refund guarantee to give our MRKH patients peace of mind. If you cannot detect any presence of your new uterus and vagina post-surgery, or if you still need dependence on vaginal molds, then we must refund the full treatment cost to you.

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