Klinefelter syndrome

Definition

Klinefelter syndrome, also called 47,XXY, is a genetic condition that occurs in males when they have an extra X chromosome. This can cause problems with development and fertility. Some men have no symptoms and never know they have it.

Alternative Names

47 XXY syndrome; XXY syndrome; XXY trisomy; 47,XXY/46,XY; Mosaic syndrome; Poly-X Klinefelter syndrome

Causes

Most people have 46 chromosomes. Chromosomes contain all of your genes and DNA, the building blocks of the body. The 2 sex chromosomes (X and Y) determine the genetic sex of a child. The genetic sex of a child is determined at conception. The mother's egg cell contains an X chromosome, while the father's sperm cell contains either an X or a Y chromosome.

Normally, an infant inherits 1 pair of sex chromosomes, 1 X from the mother and 1 X or 1 Y from the father. A baby who inherits the X chromosome from the father is a genetic female and has 2 X chromosomes. A baby who inherits the Y chromosome from the father is a genetic male and has 1 X and 1 Y chromosome

Klinefelter syndrome results when a male child is born with at least 1 extra X chromosome. They have 47 chromosomes instead of 46. This is written as 47, XXY.

Klinefelter syndrome occurs as a random event. There is no exact cause, and the condition is not inherited. 

Klinefelter syndrome occurs in about 1 out of 500 to 1,000 male infants. Women who get pregnant after age 35 are slightly more likely to have a male child with this syndrome than younger women.

Symptoms

Symptoms vary widely, with some males having few or only mild signs. Some may never know they have the condition or only discover it as adults when they have fertility problems. Others experience delayed growth and development in childhood.

Symptoms may include any of the following:

Exams and Tests

Klinefelter syndrome may first be diagnosed when a man comes to their health care provider because of infertility. Or it may be diagnosed if a male child does not develop normally during puberty. The following tests may be performed:

Blood tests will be done to check hormone levels, including:

Treatment

While there is no cure, treatment can help improve symptoms. Depending on symptoms, the health care team may include a number of specialists:

Testosterone therapy may be prescribed. This can help:

Males who have excess breast tissue may decide to have it surgically removed.

If you have Klinefelter syndrome and wish to have children, it's a good idea to work with an infertility specialist. Many men with this syndrome cannot produce enough sperm to have children. However, some men may be helped with newer reproductive technologies.

Support Groups

More information and support for people with Klinefelter syndrome and their families can be found at:

Possible Complications

Men with Klinefelter syndrome have an increased risk of a number of other health conditions:

When to Contact a Medical Professional

Contact your provider if your child has any signs or symptoms of Klinefelter syndrome. Also contact your provider if your child does not develop male sexual characteristics during puberty. This includes facial hair growth and a deeper voice.

Adult males with this condition should see their provider for regular health exams to check for and manage possible health problems.

References

Escobar O, Gurtunca N, Viswanathan P, Witchel SF. Pediatric endocrinology. In: Zitelli BJ, McIntire SC, Nowalk AJ, Garrison J, eds. Zitelli and Davis' Atlas of Pediatric Physical Diagnosis. 8th ed. Philadelphia, PA: Elsevier; 2023:chap 9.

Marcdante KJ, Kliegman RM, Schuh AM. Chromosomal disorders. In: Marcdante KJ, Kliegman RM, Schuh AM, eds. Nelson Essentials of Pediatrics. 9th ed. Philadelphia, PA: Elsevier; 2023:chap 49.

Matsumoto AM, Anawalt BD. Testicular disorders. In: Melmed S, Auchus RJ, Goldfine AB, Koenig RJ, Rosen CJ, eds. Williams Textbook of Endocrinology. 14th ed. Philadelphia, PA: Elsevier; 2020:chap 19.

Yu RN, Diamond DA. Disorders of sexual development: etiology, evaluation, and medical management. In: Partin AW, Dmochowski RR, Kavoussi LR, Peters CA, eds. Campbell-Walsh-Wein Urology. 12th ed. Philadelphia, PA: Elsevier; 2021:chap 48. 


Review Date: 10/13/2022
Reviewed By: Anna C. Edens Hurst, MD, MS, Associate Professor in Medical Genetics, The University of Alabama at Birmingham, Birmingham, AL. Review provided by VeriMed Healthcare Network. Also reviewed by David C. Dugdale, MD, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team. Editorial update 12/18/2023.
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