Congenital Abnormalities of the Reproductive System

This refers to a variety of uncommon disorders of the female reproductive tract that occur while the child is growing in the womb.

Overview and Symptoms

The resulting abnormalities may affect the external genitals, hymen, uterus, cervix, vagina and ovaries. While these developmental abnormalities may have a genetic component, most females with these conditions have no genetic abnormality.

Symptoms of congenital abnormalities of the reproductive system vary with age but may include:

  • abnormal labia or vaginal opening
  • ambiguous genitalia
  • no openings in the genital area or a single rectal opening
  • swollen clitoris
  • no menstruation
  • lump in the lower abdomen
  • painful menstruation that worsens with time
  • menstrual overflow
  • pain with intercourse
  • repeated miscarriages or preterm births

A developmental disorder may be diagnosed during a physical exam or may require genetic and/or hormonal testing, ultrasound or MRI of the pelvic area, or an exam under anesthesia.


Treatment for congenital abnormalities of the reproductive tract may include surgery or a dilator to create a new vagina. Counseling and support groups are also often recommended as the girls get older.

Obstetrics and Gynecology

The Department of Obstetrics and Gynecology at BIDMC provides outstanding care for all women throughout their lives, in a friendly, comfortable and safe environment.

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