Coexisting multiple types of gynecological tumors and primary amenorrhea in an adolescent with Proteus syndrome: A case report

Some conditions are written into our genetic code from the very beginning, shaping how our bodies grow and develop. Most of us follow a predictable path, but for a tiny fraction of people, a specific genetic change causes the body to grow in a way that defies the usual rules. This rare condition, known as Proteus syndrome, leads to tissues growing at different rates and in strange patterns, often affecting the skin, bones, and internal organs. Because the growth is uneven and unpredictable, it can cause significant physical changes and increase the risk of developing tumors. While doctors have long known that this syndrome affects many parts of the body, the specific ways it impacts the reproductive system in young women have remained a mystery, with very few detailed accounts in medical literature. Understanding these hidden effects is crucial, not just for treating the physical symptoms, but for ensuring that young patients receive the right care at the right time to prevent serious complications.

This story centers on a fifteen-year-old girl who arrived at a hospital in Beijing with a complex medical history. She had been diagnosed with Proteus syndrome at the age of three, a condition confirmed by a genetic test that found a specific change in her DNA. From the time she was an infant, she had experienced uneven growth in her left hand and foot, and her skin had developed thick, brain-like folds on her palms and soles. By her teenage years, she had undergone several surgeries to remove overgrown tissue and had been treated with medication to help manage her blood vessels. Despite these challenges, she had grown to a height of 170 centimeters and was doing well in school. However, a troubling issue had emerged: she had never started her monthly period, a condition known as primary amenorrhea, and she was showing signs of high levels of male hormones, such as unwanted hair growth and acne.

When she visited the gynecology clinic, doctors performed a series of scans that revealed a startling picture inside her pelvis. An ultrasound showed a large, complex mass in her right ovary, and further imaging confirmed that her left ovary was also enlarged and filled with cysts. The situation was complicated by the fact that her uterus was small and surrounded by dense scar tissue, making the organs difficult to see. To understand what was happening, the medical team performed a minimally invasive surgery to look inside her abdomen. They found a large mass, about the size of a grapefruit, taking up the entire pelvic space. This mass was attached to her left ovary and was stuck to the front of her uterus. They also discovered that both of her ovaries were swollen with fluid-filled sacs, and there were small, hard lumps on the tissue that holds the intestines in place.

The surgeons carefully removed the large mass, the cysts from both ovaries, a small nodule on the uterus, and the lumps on the intestinal tissue. When these samples were examined under a microscope, the results were a mix of different conditions. The large mass turned out to be a benign tumor made of fluid-filled sacs, known as a serous cystadenoma. The cyst on her right ovary was a mature teratoma, a type of growth that can contain various tissues like hair or teeth, while the left ovary showed signs of the tissue that normally supports the egg cells growing too thickly. This combination of multiple different tumors and tissue overgrowth in a single patient was something the researchers had never seen before in someone with this syndrome.

After the surgery, the medical team turned their attention to why she had never had a period. They determined that the high levels of male hormones were likely the cause. To help regulate her cycle, they prescribed a combination of hormones in pill form. Within a month, she began to bleed for the first time, and her periods became regular. However, her journey was not without new challenges. Three months after starting the hormone pills, she developed a blood clot in her leg, a known risk for people with Proteus syndrome due to their abnormal blood vessels. Doctors treated this with blood-thinning medication, and she has since been monitored closely by a team of specialists.

This case is significant because it reveals a much wider range of gynecological problems than previously known for patients with Proteus syndrome. While other reports have mentioned single tumors or irregular bleeding, this patient had a rare combination of multiple tumors, severe scarring, and hormonal imbalances all at once. The researchers suggest that the same genetic error that causes the body to grow unevenly is also driving the ovaries to produce too many cells and hormones. This finding helps explain why some patients develop symptoms that look like a common hormonal disorder called polycystic ovary syndrome, even though they do not have the typical risk factors like obesity. It also highlights a critical need for doctors to screen young women with this syndrome for pelvic masses and to watch their development closely, as early detection can lead to better outcomes. The case serves as a reminder that for patients with complex genetic conditions, the body can present a unique and intricate set of challenges that require careful, coordinated care from many different medical experts.