Uterine hypoplasia is when a girl is born with a uterus that is abnormally small.
The condition is sometimes referred to as a hypoplastic uterus.
Patients can be seen by Texas Children's experts in Pediatric and Adolescent Gynecology.
Causes & Risk Factors
Uterine hypoplasia is a congenital disorder, meaning it is present at birth. It occurs when the uterus fails to fully develop in the fetus.
The cause of this abnormal fetal development is not yet known.
Uterine hypoplasia may be one symptom of a broader condition known as Mayer-Rokitansky-Küster-Hauser (MRKH), a disorder in which the girl’s uterus and vagina are absent or underdeveloped, in addition to other abnormalities.
Symptoms & Types
Symptoms may include:
- Failure to start having periods at puberty (primary amenorrhea)
- Abdominal pain
- A small or no vaginal opening
- Infertility
Diagnosis & Tests
Because the outward genitals appear normal, the condition is often not diagnosed until puberty, when a girl fails to start having periods and visits her doctor.
Diagnosis starts with a thorough medical history and physical exam, including a pelvic exam.
Additional testing may include:
- Blood tests – to test for Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, a disorder in which the uterus and vagina are absent or underdeveloped, in addition to other abnormalities
- Ultrasound – to obtain images of the reproductive organs
- Magnetic resonance imaging (MRI) – for more detailed images of the reproductive tract
Treatment & Care
Treatment depends on the individual and her symptoms.