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What is the Appearance of Someone with Klinefelter Syndrome?

Published in Genetic Disorders 1 min read

The appearance of someone with Klinefelter syndrome can vary significantly, but often includes a combination of physical characteristics related to hormonal imbalances. These features are typically more pronounced after puberty.

Here's a breakdown of common characteristics:

  • Body Composition:

    • Taller stature, often exceeding the average height.
    • Less muscular build compared to individuals without the condition.
    • Broader hips and longer limbs (arms and legs) relative to the torso.
  • Sexual Development:

    • Smaller penis and testicles (microorchidism).
    • Delayed or incomplete puberty, possibly requiring hormone therapy. Some individuals may not undergo typical pubertal changes.
    • Reduced facial and body hair.
  • Other Physical Traits:

    • Gynecomastia: Enlarged breast tissue.
    • Weaker bones (increased risk of osteoporosis).
    • Lower energy levels or fatigue.

It's important to remember that not all individuals with Klinefelter syndrome will exhibit all of these characteristics. Some may have only a few, while others may have a more pronounced combination. Diagnosis is typically confirmed through chromosome analysis.

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