Diagnostic dilemma: A woman born without a vagina or cervix conceived a son naturally.

Patient: 16-year-old girl living in the UK

Symptoms: The teenage girl was referred to a pediatric and adolescent gynecology clinic in 1999, doctors wrote in a case report. She was experiencing pelvic pain following the regular pattern of her menstrual cycle, but her first period had not yet arrived. She was referred for “amenorrhea,” meaning the absence of menstrual periods.

What happened next: A pelvic ultrasound and MRI revealed that the girl had a uterus but was missing both a cervix and a vagina. Doctors then confirmed the findings with a laparoscopy. Laparoscopy is a test in which a tube equipped with a camera is introduced into the body through a keyhole incision. Although they did not look at the cervix or vagina, they did see healthy ovaries and fallopian tubes with no evidence of endometriosis.

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Diagnosis: The complete absence of the cervix at birth, known as cervical agenesis, is a type of cervical atresia and is a rare condition associated with cervical malformations, which is thought to affect between 1 in 100,000 and 1 in 80,000 live births.

Vaginal dysplasia is often accompanied by cervical atresia. In a small study of 18 women with absent or malformed cervixes, about 39% of patients had vaginal hypoplasia. Available data hint that this rate may be much higher in women whose cervixes are not fully formed.

Treatment: The girl started taking oral contraceptive pills to stop her periods. Often, a monthly oral contraceptive regimen involves taking an inert pill for one week that does not contain hormones and causes bleeding similar to a period. However, in this case, the girl was constantly taking hormones to stop all the bleeding.

The medical team then considered various surgical treatment options, including removal of the uterus. After discussions with the girl and her family, doctors opted to perform vaginoplasty instead of fertility-sparing surgery. During the procedure, they created a vagina with a cervical opening that connects to the uterus.

After the surgery, the girl was placed on a regular schedule of taking birth control pills. This means that every month I have a week where I don’t take hormones to prepare for my bleeding. My period started a month after the procedure.

A few years later, in 2010, at age 28, she and her partner decided they wanted to start having children, so they stopped using birth control. After trying to conceive for a year, the couple sought out a fertility specialist. Hormone tests revealed that my egg count was lower than average for my age. A pelvic MRI also revealed a small buildup of menstrual blood in the uterus, suggesting that scar tissue may be blocking the upper part of the vagina.

Doctors performed steps to prevent future structural problems and attempted three intrauterine inseminations, in which sperm from the patient’s partner was injected into the uterus through a tube called a cannula.

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When this assisted reproductive technology was not successful, doctors turned to in vitro fertilization (IVF). During IVF, an egg removed from her body is fertilized with her partner’s sperm to form an embryo, which is then implanted into her uterus. After this approach failed three times, the couple stopped fertility treatment for financial reasons.

However, in 2022, eight years after the last IVF, the woman became pregnant naturally. She gave birth to a healthy son by scheduled caesarean section on her 40th birthday.

What is unique about this case: It is rare for women who have undergone surgery to correct cervical and vaginal atresia to become pregnant naturally.

A systematic review examined 121 patients across 21 research studies who underwent surgery similar to the women described in the above report. Only six of them became pregnant naturally.

This woman’s pregnancy was even more remarkable because it occurred nearly 10 years after unsuccessful fertility treatments.

In the patient’s perspective included in the case report, she writes: [my doctor] I appreciate his willingness to experiment, to challenge the status quo and to enable me to have a normal sex life, menstrual cycles, get pregnant, and have my own child. ”

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