The patient: A 16-year-old girl in the United Kingdom
The symptoms: The teen was referred to a pediatric and adolescent gynecology clinic in 1999, the doctors wrote in a statement. case report. She suffered from 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 absence of periods.
What happened next: A pelvic ultrasound and MRI revealed that although the girl had a uterus, she was missing both a cervix and a vagina. Doctors then confirmed their findings with a laparoscopy, a procedure in which a tube equipped with a camera is guided into the body through a keyhole incision. They saw no cervix or vagina, but they saw healthy ovaries and fallopian tubes, with no evidence of endometriosis.
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The diagnosis: The complete absence of a cervix at birth, known as cervical agenesis, is a form of cervical atresia, a rare condition involving cervical malformations that can affect 1 in 100,000 births to 1 in 80,000 births.
Vaginal agenesis often accompanies cervical atresia. A small study of 18 women with missing or malformed cervixes found vaginal agenesis in approximately 39% of patients. The rate can be much higher in women with complete cervical agenesis, available data suggest.
The treatment: The girl started 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 period-like bleeding. In this case, however, the girl continually took hormonal pills to stop any bleeding.
The medical team then explored various surgical treatment options, including removal of the uterus. After speaking with the girl and her family, doctors opted for surgery to preserve fertility by performing vaginoplasty. During the procedure, they created a vagina with a cervical opening where it connected to the uterus.
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After surgery, the girl went on a cyclical schedule of birth control pills, meaning she began including a week without hormones to allow for her monthly bleeding. Her periods started a month after the procedure.
Years later, in 2010, at the age of 28, she stopped taking birth control because she and her partner wanted to start trying for a child. After trying to conceive for a year, the couple sought help from fertility specialists. A hormone test indicated that her egg count was lower than average for her age. A pelvic MRI also revealed a small accumulation of menstrual blood in the uterus, suggesting scar tissue may be obstructing the upper part of the vagina.
Doctors performed a procedure to prevent future structural problems and attempted three rounds of intrauterine insemination, in which sperm from the patient’s partner was introduced into her uterus through a tube called a cannula.
When this method of assisted reproduction failed, doctors turned to in vitro fertilization (IVF), in which eggs extracted from one’s body were fertilized with the partner’s sperm to form embryos which were then placed in the uterus. After three unsuccessful attempts at this approach, the couple stopped fertility treatment for financial reasons.
But in 2022, eight years after the last IVF cycle, the woman became pregnant through natural conception. She delivered a healthy son by elective cesarean section on her 40th birthday.
What makes the case unique: Natural conception is rare in women who undergo surgery to correct cervical and vaginal atresia.
A systematic review examined 121 patients in 21 research studies who underwent surgery similar to that of the woman described in the report above. Among them, only six conceived a child naturally.
The woman’s pregnancy was even more remarkable because it occurred about a decade after she underwent 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 and menstrual cycle, get pregnant and carry my own child.”
For more intriguing medical cases, check out our Diagnostic Dilemma Archives.
This article is for informational purposes only and is not intended to offer medical advice.
Tamblyn, J.A., Salahuddin, S., Morley, L.C., and Balen, A.H. (2026). Successful pregnancy after reconstructive surgery in a woman with complete cervical and vaginal agenesis – report of a case and review of the literature. Human fertility, 29(1). https://doi.org/10.1080/14647273.2025.2607206
