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Genetic Studies

Want to participate in a genetic study of MRKH? 

Persons with MRKH (also known as Mullerian Aplasia) are needed.

We are studying females born either lacking or with an underdeveloped uterus & vagina (and their family members) to identify the genes responsible.

We want to find the cause.

Participants will provide small blood samples and have their medical records reviewed.

All study-related procedures are free.

For more information, call Lynn at: (706) 721-7591

All studies are conducted under the direction of Dr. Larry Layman at Augusta University

Initial analysis of 147 people with MRKH and their families indicates that about 20% of people with MRKH may carry large chromosomal rearrangements that could predispose one to MRKH. However, further studies are needed to determine the significance of these findings, as it is unknown whether or not genes in these regions can contribute to MRKH in people. 

​Please see the article in Fertility and Sterility

Williams, L. S., Demir Eksi, D., Shen, Y., Lossie, A. C., Chorich, L. P., et al. (2017). Genetic analysis of Mayer-Rokitansky-Kuster-Hauser syndrome in a large cohort of families. Fertility and sterility 108, 145-151 e142.