Not again, the teenager thought with disbelief when she was told she had a rare medical condition that would require surgery.
When Emily (a pseudonym to protect her privacy) was 4, doctors discovered that she had one kidney and that her ureter (the tube that carries urine from the kidney to the bladder) was not connected properly to her bladder. Fortunately, a surgical procedure fixed the problem.
“I just continued my life and I never thought I would have another internal abnormality,” says Emily, who is now 18 and a college student.
But when Emily was 15 and started to menstruate, her periods were “absolutely agonizing,” she says. “I remember sitting in my math class and feeling the pain intensifying. My legs would get numb, my face would go white, and I would have to go to the nurse,” she recalls. “Or I would wake up with terrible pain in the morning, and I would throw up.”
After she explained the level of pain to her pediatrician, he sent her for a pelvic ultrasound, which showed a collection of blood in her uterus. She then went for an MRI (magnetic resonance imaging) to determine the source of the blood. After the MRI results came in, Emily’s pediatrician referred her to Alla Vash-Margita, MD, a Yale Medicine pediatric and adolescent gynecologist.
Mullerian anomalies explained
At her first appointment with Dr. Vash-Margita, Emily was told she had a complex condition called OHVIRA (Obstructed Hemi-Vagina with Ipsilateral Renal Agenesis). OHVIRA is a congenital, or present at birth, condition; it occurs when a girl has a double uterus, a missing kidney, and a wall of tissue that divides the vagina.
This division blocks menstrual blood from fully flowing out of the body, which causes the blood to collect in the uterus—as seen on Emily’s imaging studies—and leads to pain.
It’s common that girls with a single kidney will not be diagnosed with abnormalities of Mullerian structures until either puberty or if she attempts pregnancy. Alla Vash-Margita, a Yale Medicine pediatric and adolescent gynecologist.
OHVIRA stems from a problem with the Mullerian ducts, the embryonic structure that develops into the female reproductive tract.
“The uterus and the upper parts of the vagina develop these ducts in the early weeks of development in the embryo. Two ducts form and meet in the center to create one unit that is to become the uterus,” Dr. Vash-Margita explains.
But sometimes, the tubes don’t join as they should and instead two separate structures—or uteruses—form. This is called uterine didelphys.
“OHVIRA is a type of Mullerian anomaly, and there are a wide variety of them,” says Dr. Vash-Margita, adding that it was not surprising that Emily was not diagnosed with OHVIRA when she was found to have one kidney at age 4. “It’s common that girls with a single kidney will not be diagnosed with abnormalities of Mullerian structures until either puberty or if she attempts pregnancy.”
However, if Emily had been diagnosed with OHVIRA earlier, she could have been spared the pain and psychological distress she endured once her period started.
“There is a push now in my subspecialty to work with nephrologists and urologists to remind them that if they see a girl with a single kidney, they should perform a pelvic ultrasound to see if she has a normal uterus,” Dr. Vash-Margita says. “It’s not going to change what she has, but instead of developing this collection of blood and being in severe pain after menses onset, we can know ahead of time that this might happen and take steps to treat it.”
A decision for surgery
Emily says she was shocked to learn about her diagnosis of OHVIRA.
“I just couldn’t believe I had something else wrong. I thought I was normal again,” she says.
She also worried that a problem with her reproductive organs might mean she wouldn’t be able to have children someday. “That was my biggest concern. But Dr. Vash-Margita assured me that pregnancy could happen, I just might be considered more high-risk than other women,” Emily says.
While the condition won’t make it any more difficult for Emily to become pregnant, she will be at higher risk for miscarriage and preterm labor than a woman who doesn’t have OHVIRA—but these are all issues that can be managed by a high-risk pregnancy specialist, Dr. Vash-Margita says.
In the meantime, Emily needed to have surgery to correct the vaginal obstruction, a procedure that would eliminate the pain she’d been experiencing. Dr. Vash-Margita performed the surgery, which was done through the vagina and did not require any abdominal incisions, a few years ago.
“It was really very simple. I didn’t have to stay overnight at the hospital,” Emily recalls of the procedure, which involved removing the obstruction and creating one unified vaginal canal.
Now, Emily is studying nursing, a profession that runs in her family.
“I’ve always loved science classes and learning about the human body,” she says. “Plus, I was very well cared for during all these surgeries by nurses who held my hand through everything. And someday, when I’m caring for patients, I will understand what it’s like to be in their shoes.”
One of those nurses holding her hand was her mother. “My mom was a huge part of helping me get through all of this, and I’m grateful,” Emily says.
Raising awareness for Mullerian anomalies
It remains unclear what causes OHVIRA and other types of Mullerian anomalies. But Dr. Vash-Margita and several doctors and researchers have established an international consortium dedicated to investigating the genetic and environmental causes of these conditions.
Members of the research team include Mustafa Khokha, MD, a pediatric critical care and genetics specialist at Yale Medicine; Emanuele Pelosi, PhD, a developmental biologist at the University of Queensland, Australia; and Miranda Margetts, PhD, a health equity researcher at Montana State University. Pelosi and Margetts also hold research affiliate appointments at Yale University and are part of Dr. Vash-Margita’s lab.
The team is running a clinical trial in which they are conducting whole genome sequencing in patients who have Mullerian anomalies. “We test their mothers and fathers, too, with the hope that we find the genes that are causative or at least associated with this condition,” Dr. Vash-Margita says. “We are applying for funding through the National Institutes of Health to support the necessary, wide-scale research required for these females and their families.”
For her part, Emily supports anything that can be done to better understand OHVIRA and other Mullerian anomalies.
“I definitely want to raise awareness and help other people. It was a shocking experience for me. Through research, we can give other girls better answers at some point, even if it’s not in my lifetime,” Emily says.