Klinefelter syndrome

Also called XXY syndrome or 47,XXY

Klinefelter syndrome is a genetic condition where boys and men are born with an extra X chromosome (XXY). It affects how the testicles develop and leads to lower levels of testosterone. Many people with it are not diagnosed until adulthood, often when having tests for infertility.

Last updated Nov 9, 2026

What it is

It can cause infertility, reduced body hair, breast growth and, in some people, learning or speech difficulties.

Testosterone replacement, support at school, and fertility treatment can help.

Common signs

  • Small, firm testicles
  • Delayed or incomplete puberty
  • Being taller than average
  • Breast growth
  • Infertility
  • Learning or speech difficulties, sometimes

How it is usually diagnosed

  • Hormone blood tests
  • Chromosome analysis (karyotype)
  • Semen analysis

Records worth keeping

Keeping these together makes each appointment easier, especially when you see a new doctor:

  • Karyotype result
  • Testosterone and hormone results over time
  • Bone density scans
  • Endocrinology and fertility letters

Questions to ask your doctor

  • Should I take testosterone?
  • What are my options for having children?
  • What health checks will I need?

When to get help right away

Call 112 or go to the nearest emergency department if you have:

  • A sudden painful swelling in the leg or sudden breathlessness while on testosterone: call 112

This page is general information. It is not a diagnosis and does not replace a doctor who knows your history. Medfold keeps your records organised; it does not interpret them.

Sources