Mayer–Rokitansky–Küster–Hauser (MRKH) Syndrome is a condition present at birth in which parts of the female reproductive system – such as the uterus, cervix and upper vagina – do not develop as expected.
MRKH is usually diagnosed during adolescence, often when menstruation does not begin (a condition called primary amenorrhea). The exact cause of MRKH is not fully known, but both genetic and environmental factors may play a role.
Women diagnosed with MRKH may face a range of concerns from diagnosis through adulthood. These can include:
Associated conditions like endometriosis
Abnormalities of the urinary tract or spine
In some cases, underdeveloped uterine remnants that may cause pelvic pain
Even without a uterus, the ovaries release eggs and produce hormones. This means the body still goes through normal hormonal changes, so some PMS-like symptoms are common. Symptoms may include:
Mood swings or irritability
Breast tenderness
Bloating
Acne
These symptoms are similar to PMS but occur without a period.
What causes MRKH syndrome?
Internal female organs, including the ovaries, uterus, fallopian tubes and vagina, develop in the first few months of a baby’s growth inside her mother’s uterus. For those with MRKH, the development of the internal female organs is incomplete. The ovaries develop separately from the other reproductive structures and are therefore not affected in girls with MRKH. Doctors don’t know exactly what causes MRKH. Some think there might be a genetic cause, but this has not yet been proven.
Who gets MRKH syndrome?
MRKH is a congenital condition that affects about one in 5,000 female births.
MRKH Variations
MRKH is usually divided into two main types:
MRKH Type 1
affects only the reproductive system and is the more common form.
MRKH Type 2
affects the reproductive system and may include other abnormalities, such as:
Kidney anomalies (e.g., single kidney, pelvic kidney or ectopic kidney)
Spinal abnormalities such as scoliosis
Hearing loss or heart defects
How is MRKH Diagnosed?
Getting an accurate diagnosis is an important first step.Your doctor may recommend several tests, including:
An external physical exam
Imaging tests, such as an ultrasound or MRI
A karyotype test may also be suggested. This simple chromosome test checks for genetic differences linked to MRKH.
These evaluations help your care team understand your condition fully and support you in choosing the next steps that feel right for you.
Treatments Offered at Texas Children’s MRKH Center
Recommended options will vary based on your anatomy, life stage and family planning goals. Most people with MRKH do not require immediate treatment unless there is pain or another medical concern. Choosing if and when to start treatment is a personal decision, and it’s completely normal to take time to understand your diagnosis and work through any emotions that arise.
Specific options may include:
Uterine remnant management: Some women may require removal of underdeveloped remnant uterine tissue or endometriosis care to control pelvic pain symptoms.
Vaginal dilation: MRKH is associated with a shortened vagina, and vaginal dilators are one treatment option to help stretch the vagina. This is the first-line option for vaginal lengthening.
Vaginoplasty: Vaginoplasty is a surgical procedure to create a vagina. We offer both minimally invasive and robotic surgery options for children and adolescents.
