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Klinefelter syndrome

Also called: Klinefelter syndrome, XXY

Boys born with an extra X chromosome, often found at puberty with small testicles and low testosterone.

TreatmentTestosterone

Overview

Many boys with Klinefelter aren't diagnosed until puberty or when trying to have children.

Testosterone helps with energy, muscle, and bone health.

Symptoms

Common signs:

  • Small testicles

Less common

  • Tall height
  • Learning delays
  • Breast growth

When to get medical care

Call 911This isn't an emergency by itself. Call 911 for trouble breathing, chest pain, or fainting.
Get care todayNew or worse symptoms, or symptoms with fever.
See a doctor soonPuberty concerns.

Causes

Extra X.

Does it spread or run in families?

  • It isn't contagious. You can't catch it from someone else.

Diagnosis

A clinician asks about your symptoms and may order tests.

The exam

A physical exam.

Tests

Tests, if needed:

  • Chromosome test:

Treatment

Treatment depends on the cause and how severe it is.

Self-care

  • Ask about testosterone therapy
  • Do physical activity

Which doctor treats this

  • Start with your primary care provider (family doctor or internist).
  • They may send you to an endocrinologist (hormone doctor).

Children, pregnancy, and older adults

  • Teens: Starting testosterone at puberty helps.
  • Boys: Often found at puberty.

Outlook

Most live healthy lives.

Most live full lives.

Getting ready for your visit

Bring a list of your symptoms and medicines.

What to bring

  • A list of your medicines and supplements
  • Notes on when symptoms started and what makes them better or worse

Questions to ask

  • What's causing this?
  • What treatment do you recommend?
  • What are my fertility options?

Research studies

Research studies test new ways to find and treat health problems. Some are looking for volunteers. Talk with your doctor before joining one.

Search ClinicalTrials.gov for studies on Klinefelter syndrome

Sources

Last updated 2026-11-12.