A research team at CHA Bundang Medical Center has developed a promising solution for male infertility, particularly for patients suffering from Klinefelter syndrome.

CHA Bundang Medical Center researchers found a method to help Klinefelter syndrome patients to become fathers. They are from left, Professors Yu Young-dong, Kwon Hwang, and Shin Ji-eun.
CHA Bundang Medical Center researchers found a method to help Klinefelter syndrome patients become fathers. They are from left, Professors Yu Young-dong, Kwon Hwang, and Shin Ji-eun.

Klinefelter syndrome, characterized by the presence of an extra X chromosome (XXY instead of the typical XY), is the most common cause of primary hypogonadism, occurring in approximately one out of every 500 male births.

Many men with this condition are diagnosed with infertility, with Klinefelter syndrome accounting for about 11 percent of non-obstructive azoospermia cases. Despite being relatively common, about 50 percent of affected men remain undiagnosed until adulthood, often discovered incidentally during fertility assessments.

Historically, men diagnosed with Klinefelter syndrome faced the grim reality of infertility due to reduced testicular size and progressive deterioration of testicular function, leading to hypogonadism.

To help such aspiring parents, the team, led by Professors Yu Young-dong of the Department of Urology, Kwon Hwang and Shin Ji-eun of the Department of Obstetrics and Gynecology, undertook microscopic testicular tissue extraction surgeries on 118 men diagnosed with Klinefelter syndrome between 2011 and 202.

Impressively, sperm were successfully retrieved from 49.2 percent (58 individuals) of the subjects. Furthermore, 53.5 percent (31 couples) of these cases resulted in successful pregnancies and births through intracytoplasmic sperm injection (ICSI) coupled with in vitro fertilization (IVF) techniques.

"Because Klinefelter's syndrome is a genetic disorder, early diagnosis and management is paramount, and referral to a genetics, endocrinology, and male fertility specialist is essential for maintaining masculinity through adulthood and fertility in the future," Professor Yu said. "It is important to get the correct diagnosis and treatment, as hastily starting male hormone therapy based on sex hormone levels alone can lead to permanent testicular degeneration."

The research results were published in the Investigative and Clinical Urology.

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