Superman Syndrome: Rare but Real

Superman syndrome, also called XYY syndrome or Jacob’s syndrome, is a rare genetic disorder that occurs when a male has an extra Y chromosome in each of his cells, resulting in the XYY combination. This genetic variation was first brought to light in 1961 by Dr Patricia Jacobs and her research team. The discovery emerged during a chromosomal study at a Scottish hospital that specialises in caring for individuals with developmental disabilities. Amid their analysis, the researchers identified a male exhibiting this unusual chromosomal pattern, marking the first documented case of what would later be termed XYY syndrome. The term "Superman syndrome" was coined in response to a historical misconception that people with the condition were abnormally aggressive and physically strong, similar to the characteristics of the fictional superhero. This misunderstanding stems from early research on men with XYY syndrome, some of whom exhibited antisocial behaviour. However, recent research has shown that this syndrome does not cause increased aggression or a higher risk of mental illness.

• Signs and Symptoms

In patients with Superman syndrome, symptoms may include autism, attention difficulties, emotional or behavioural challenges, weak muscle tone (hypotonia), delayed development of motor skills such as walking or crawling, speech impairment, being taller than average and infertility.

• Causes-

This condition happens accidentally when the father's sperm are forming, before conception. The sperm gets an extra Y chromosome due to a defect known as nondisjunction. Consequently, the child’s body develops an additional Y chromosome in every cell. It is important to note that fathers with this condition do not pass it down to their children.

Generally, each cell in the body has 46 chromosomes arranged into 23 pairs. The first 22 of these pairs are known as autosomes, and the 23rd pair, which determines gender, are the sex chromosomes. In males, there is one X chromosome and one Y chromosome in this pair, while in females, there are two X chromosomes.

• Prevalence-

XYY syndrome is a rare chromosomal condition that affects only males at birth. According to recent studies, one in 1000 people worldwide is thought to be affected by this condition.

• Diagnosis-

Patients with this condition are often either undiagnosed or misdiagnosed. Superman syndrome may remain undetected until adulthood, frequently coming to attention when fertility concerns, such as decreased sperm count, lead to more in-depth medical evaluation. Such genetic conditions are typically confirmed through specialised diagnostic procedures, including chromosomal analysis.

• Treatment-

While there is no targeted cure for this condition, it can be effectively managed with various treatments that help relieve symptoms and minimise its effects, particularly when identified early. Interventions such as speech therapy, educational support, and physical or occupational therapy can significantly aid individuals in navigating the challenges associated with the condition.