Diseases and Conditions
Klinefelter syndrome
Overview
Symptoms
Causes
Risk factors
Complications
Diagnosis
Treatment
Coping and support
Preparing for an appointment
Causes
Klinefelter syndrome occurs as a result of a random error that causes a male to be born with an extra sex chromosome. It isn't an inherited condition.
Humans have 46 chromosomes, including two sex chromosomes that determine a person's sex. Females have two X sex chromosomes (XX). Males have an X and a Y sex chromosome (XY).
Klinefelter syndrome can be caused by:
- One extra copy of the X chromosome in each cell (XXY), the most common cause
- An extra X chromosome in some of the cells (mosaic Klinefelter syndrome), with fewer symptoms
- More than one extra copy of the X chromosome, which is rare and results in a severe form
Extra copies of genes on the X chromosome can interfere with male sexual development and fertility.