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Understanding Differences of Sex Development: The Story of a Woman with XY Chromosomes

HealthUnderstanding Differences of Sex Development: The Story of a Woman with XY Chromosomes
/ ClipartKorea *This image is not related to the article content
/ ClipartKorea *This image is not related to the article content

“You have testicles in your body.”

This was the shocking revelation a woman heard from her doctor after seeking medical attention due to not having her first menstrual period by the time she entered high school.

Detailed examinations revealed two testicles in the woman’s body. Her sex chromosomes were also confirmed to be XY.

On Wednesday, WithNews, an online affiliate of Japan’s Asahi Shimbun, shared the story of Seri (pseudonym), born in 1981 in the North Kanto region of Japan and raised as a woman.

Since childhood, Seri had been aware of rounded protrusions near her external genitalia. Her family was also cognizant of this but didn’t seek medical attention as there were no apparent health issues.

However, when her menstrual cycle failed to begin even after entering high school, she visited a hospital to determine the cause.

Seri consulted three gynecologists but couldn’t find a clear explanation. Subsequently, at a regional national university hospital’s urology department, she underwent thorough testing and discovered an entirely unexpected truth.

The examination revealed that Seri’s sex chromosomes were XY, typically found in males.

MRI scans also identified the nature of the protrusions near her external genitalia that had been present since childhood. They were testicles.

Seri’s body contained two testicles. One had protruded externally, while the other was located internally. The attending physician, encountering such a case for the first time, had to consult medical literature. Seri was diagnosed with Differences of Sex Development (DSD).

A concept distinct from gender identities like transgender or non-binary
DSD refers to a congenital condition where sex chromosomes and reproductive organs like ovaries or testicles develop differently from typical male or female patterns.

Subsequently, due to the risk of tumor development in the remaining internal testicle, Seri underwent surgery to remove it at age 25.

Currently, she takes daily female hormone supplements to maintain her health and undergoes blood tests every six months, which have shown no significant abnormalities.

The manifestation, symptoms, and severity of DSD vary widely among individuals. It’s important to note that DSD is a medical concept related to physical sex development and is distinct from gender identities such as transgender or non-binary.

While some cases of DSD are identified immediately after birth through genital appearance, others, like Seri’s, may not show clear external symptoms during growth. In such instances, the condition might only be discovered through detailed medical examinations prompted by the absence of menstruation or unexpected secondary sex characteristics during puberty.

Professor Satoshi Narumi of Keio University Hospital’s Pediatrics Department explained that approximately one in 5,000 patients exhibits symptoms severe enough to make gender determination difficult at birth.

However, it’s believed that some individuals with milder symptoms may live their entire lives unaware of their exact physical condition.

In the U.S., specialized DSD clinics can be found at major medical centers such as Boston Children’s Hospital, Cincinnati Children’s Hospital, and UCLA Health, offering comprehensive care through multidisciplinary teams including pediatric endocrinologists and urologists.

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