Congenital reproductive tract disorders are abnormalities in a newborn girl’s reproductive organs that occured during development of the fetus.
The disorder is present at birth but in some cases problems may not develop until the child reaches puberty.
Patients can be seen by Texas Children's experts in Pediatric and Adolescent Gynecology.
Causes & Risk Factors
Problems in the development of a girl's reproductive organs may be caused by:
- Genetic defects
- Heredity
- Drugs used during pregnancy
- Radiation
- Chemical factors
- Hormonal imbalance
Symptoms & Types
Symptoms may include:
- Abdominal or pelvic pain
- Discomfort during sex
- Irregular menstrual bleeding
- Failure to start menstruating at puberty (amenorrhea)
- Lack of breast development
- Genitals that are hard to identify as male or female
- Labia (vaginal lips) connected together
- No openings in the genital area
- Difficulty getting or staying pregnant
Congenital disorders of the reproductive tract include:
- Abnormalities of the external genitalia – including the clitoris or labia, or ambiguous genitalia (not clearly male or female)
- Hymen abnormalities – including imperforate hymen, a condition in which the hymen completely blocks the vaginal opening
- Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome – missing part or all of the internal reproductive organs (uterus, cervix and fallopian tubes)
- Ovarian abnormalities – including an extra ovary or extra tissue attached to an ovary
- Uterine and cervix abnormalities – including extra cervix and uterus, half-formed uterus, or blockage of the uterus
- Vaginal abnormalities – including no vagina or the vaginal opening is blocked
- Vulva abnormalities
Diagnosis & Tests
In some cases, the disorder is apparent at birth and diagnosed during examination of the newborn. Other times, the condition is not diagnosed until the girl is older and has symptoms, or the disorder is discovered during a physical exam.
Diagnosis may include:
- Detailed medical history and thorough physical exam
- Pelvic exam
- Blood tests – to measure hormone levels
- Urine test
- Genetic testing – to determine gender, when necessary
- Imaging tests – including pelvic ultrasound or magnetic resonance imaging (MRI) to take images of internal reproductive organs
- Laparoscopy or hysteroscopy – procedures to view internal reproductive organs
Treatment & Care
Treatment depends on the individual patient, the type of disorder, its cause, and the severity of symptoms.
Treatment strategies include:
- Observation and regular follow ups – when the condition can be left untreated
- Surgery – to repair the defect
- Counseling – to help children and families deal with the emotional and social challenges of congenital abnormalities