Diagnostic dilemma: Woman born without a vagina or cervix went on to conceive a son naturally

The patient: A 16-year-old girl in the United Kingdom

The symptoms: The teenage girl was referred to a pediatric-adolescent gynecology clinic in 1999, doctors wrote in a case report. She had pelvic pain that followed the regular pattern of a menstrual cycle, but she had not yet had her first period. She was referred for "amenorrhea," or the absence of menstruation.

What happened next: A pelvic ultrasound and MRI revealed that although the girl had a uterus, she lacked both a cervix and a vagina. The doctors later confirmed their findings with a laparoscopy, a procedure in which a tube with a camera is guided into the body through a keyhole incision. They saw no cervix or vagina, but they did see healthy ovaries and fallopian tubes with no evidence of endometriosis.

The diagnosis: The total absence of a cervix at birth, known as cervical agenesis, is one form of cervical atresia, a rare condition involving cervical malformations believed to affect 1 in 100,000 to 1 in 80,000 births.

Vaginal agenesis often accompanies cervical atresia. One small study of 18women with a missing or malformed cervix found vaginal agenesis in about 39% of patients. The rate may be much higher among women with complete cervical agenesis, the available data hint.

The treatment: The girl began taking oral contraceptives to stop her periods. Often, monthly birth control pill regimens include a week of inactive pills that contain no hormones and trigger bleeding similar to a period. In this case, though, the girl took hormonal pills continually to stop all bleeding.

The medical team then explored various surgical options for treatment, including removal of the uterus. After conversations with the girl and her family, the doctors opted to perform fertility-sparing surgery instead, conducting a vaginoplasty. During the procedure, they created a vagina with a cervical opening where it connected to the uterus.

After the surgery, the girl moved to a cyclical schedule of her contraceptive pills, meaning she started including a hormone-free week to allow for monthly bleeding. Her period began a month after the procedure.

Years later, in 2010 at age 28, she stopped taking birth control because she and her partner wanted to start trying for a child. After attempting to conceive for a year, the couple sought out fertility specialists. A hormone test indicated that her egg count was lower than average for her age. A pelvic MRI also revealed a small buildup of menstrual blood in the uterus, suggesting that scar tissue might be obstructing the upper portion of the vagina

Doctors performed a procedure to prevent future structural issues and attempted three rounds of intrauterine insemination, in which sperm from the patient's partner was delivered into her uterus via a tube called a cannula.

When this assisted reproductive method was unsuccessful, doctors pivoted to in vitro fertilization (IVF), during which eggs retrieved from her body were fertilized with the partner's sperm to form embryos that were then placed into the uterus. After three unsuccessful rounds of this approach, the couple stopped fertility treatment for financial reasons.

But in 2022, eight years after the last round of IVF, the woman became pregnant via natural conception. She delivered a healthy son via an elective cesarean section on her 40th birthday.

What makes the case unique: Natural conception is uncommon for women who undergo surgery to correct cervical and vaginal atresia.

One systematic review looked at 121 patients across 21 research studies who receive a similar surgery to the woman described in the above report. Of those, only six went on to conceive a child naturally.

The woman's pregnancy was even more notable because it occurred about a decade after she'd undergone unsuccessful fertility treatments.

In a patient perspective included in the case report, she wrote: "I am extremely grateful to [my doctor] for challenging the status quo and his experimental drive to help me have a normal sex life, menstrual cycle, become pregnant, and carry my own child."

For more intriguing medical cases, check out our Diagnostic Dilemma archives.