Living with an extra X chromosome: How one man cracked the code of his condition
After years of unexplained symptoms, Tim found the answer through his own research.
Former nurse Tim struggled to recall information from more than two days ago and found planning beyond two days ahead challenging. Despite growing up without any issues, Tim experienced difficulties studying and faced "comprehension disorder." He faced bullying during secondary school and chronic knee pain, which led to trips and numbness in his legs.
At university, he faced similar issues and could not feel his left leg from the hip down. Tim consulted multiple doctors, but none could diagnose his condition. He discovered he has an extra X chromosome, indicating Klinefelter syndrome, during his 20s after conducting his own research. Klinefelter syndrome is a genetic condition affecting males, characterized by an extra X chromosome, leading to an XXY chromosome pattern.
The syndrome often goes undiagnosed due to its subtle symptoms. Geneticist Angeline Lai explained that Klinefelter syndrome occurs in about one in 1,000 newborn males, although 70 to 80 percent remain undiagnosed. Diagnosis typically involves a genetic blood test, which can be done during prenatal screening, puberty, or when couples face difficulties conceiving.
The syndrome may be identified incidentally during prenatal testing for conditions like Down syndrome. Symptoms of Klinefelter syndrome include slower growth, incomplete puberty development, learning difficulties, and breast tissue development in some cases. Tim's condition impacted his nursing career, leading him to seek help through the NNI Integrated Cognitive Engagement programme, which provided vocational rehabilitation through community volunteering.
Written by urgent.news from Straits Times's reporting — not their text. Machine-written — may contain errors; check the original before relying on it.
