Müllerian Agenesis

or Mayer–Rokitansky–Küster–Hauser syndrome (MRKH syndrome)

Allow me to introduce my diagnosis. When I started this blog I was really interested in doing a bit of research to see how the scientific understanding of this syndrome has developed over the past 15-16 years since my diagnosis. While I wasn’t surprised that scientists haven’t yet found a concrete cause, I was pleasantly surprised to find recent scientific literature from reputable journals on not only the clinical effects of this syndrome on patients, but the impacts on mental well-being as well.

What is MRKH Syndrome?

Müllerian agenesis, also known as Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, is a rare congenital condition where the uterus, cervix, and upper two-thirds of the vagina are underdeveloped or completely absent. Despite these internal differences, women with MRKH typically have normal ovaries and external genitalia, and they experience puberty, including breast development, as expected. The condition is often discovered when a girl doesn’t start menstruating during her teenage years (Fernández et al., 2023).

How Severe Can It Be?

MRKH syndrome is ranges in severity. I was shocked to learn that in addition to the absence of reproductive structures, some women may face related health challenges, such as kidney abnormalities, spinal irregularities, or even hearing loss. Upon my diagnosis, I was also tested for proper kidney function, but not for spinal or hearing issues. Advances in medicine over the past two decades have paved the way for life-changing treatments, including the possibility of uterine transplants for women who dream of carrying a child themselves (Cospain et al., 2024).

What Causes MRKH?

The exact causes of MRKH remain a mystery. Researchers suspect a genetic link, as cases sometimes occur within families. Environmental factors, such as maternal exposure to certain medications or substances during pregnancy, have also been explored but without conclusive results. Ongoing genetic studies continue to search for answers (Fernández et al., 2023; Dube et al., 2024).

Living With MRKH

Living with MRKH is about more than medical diagnoses—it’s a deeply personal journey. Many women face not only physical but also emotional challenges, including the impact on self-identity and relationships. I came across this really beautiful sentiment while reading:

MRKH is also a testament to resilience. Medical advances, psychological support, and a growing community of MRKH women who share their stories bring hope and connection to those navigating this unique path.
(Khorashad et al., 2024)

I’m quite proud to be part of this community and happy to share my story and connect with others!

Bun Without an Oven