Skip to main content

Klinefelter Syndrome

  • Reference work entry
  • First Online:
Atlas of Genetic Diagnosis and Counseling
  • 426 Accesses

Abstract

In 1942, Klinefelter et al. (1942) published a report on nine men who had enlarged breasts, sparse facial and body hair, small testes, and an inability to produce sperm. In 1959, these men with Klinefelter syndrome were discovered to have an extra sex chromosome (genotype XXY) instead of the usual male sex complement (genotype XY).

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Institutional subscriptions

References

  • Abramsky, L., & Chapple, J. (1997). 47,XXY (Klinefelter syndrome) and 47,XYY: Estimated rates of indication for postnatal diagnosis with implications for prenatal counselling. Prenatal Diagnosis, 17, 363–368.

    Article  CAS  PubMed  Google Scholar 

  • Aksglaede, L., & Juul, A. (2013). Testicular function and fertility in men with Klinefelter syndrome: A review. European Journal of Endocrinology, 168, R67–R76.

    Article  CAS  PubMed  Google Scholar 

  • Bender, B. G., Harmon, R. J., & Linden, M. G. (1995). Psychosocial adaptation of 39 adolescents with sex chromosome abnormalities. Pediatrics, 96, 302–308.

    CAS  PubMed  Google Scholar 

  • Bird, R. J., & Hurren, B. J. (2016). Anatomical and clinical aspects of Klinefelter’s syndrome. Clinical Anatomy. 29, 606–619.

    Google Scholar 

  • Boltshauser, E., Meyer, M., & Deonna, T. (1978). Klinefelter syndrome and neurologic disease. Journal of Neurology, 219, 253–259.

    Article  CAS  PubMed  Google Scholar 

  • Campbell, W. A., & Price, W. H. (1979). Congenital hypothyroidism in Klinefelter’s syndrome. Journal of Medical Genetics, 16, 439–442.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Carothers, A. D., & Filippi, G. (1988). Klinefelter’s syndrome in Sardinia and Scotland. Comparative studies of parental age and other aetiological factors in 47,XXY. Human Genetics, 81, 71–75.

    Article  CAS  PubMed  Google Scholar 

  • Chen, H. (2015). Klinefelter syndrome. eMedicine from WebMD. Retrieved 1 July 2015. Available at http://www.emedicine.medscape.com/article/945649-overview

  • Friedler, S., Raziel, A., Strassburger, D., et al. (2001). Outcome of ICSI using fresh and cryopreserved-thawed testicular spermatozoa in patients with non-mosaic Klinefelter’s syndrome. Human Reproduction, 16, 2616–2620.

    Article  CAS  PubMed  Google Scholar 

  • Geschwind, D. H., Boone, K. B., Miller, B. L., et al. (2000). Neurobehavioral phenotype of Klinefelter syndrome. Mental Retardation and Developmental Disabilities Research Reviews, 6, 107–116.

    Article  CAS  PubMed  Google Scholar 

  • Giedd, J. N., Clasen, L. S., Wallace, G. L., et al. (2007). XXY (Klinefelter syndrome): A pediatric quantitative brain magnetic resonance imaging case–control study. Pediatrics, 119, e232–e240.

    Article  PubMed  Google Scholar 

  • Gies, I., Oates, R., De Schepper, J., et al. (2016). Testicular biopsy and cryopreservation for fertility preservation of prepubertal boys with Klinefelter syndrome: A pro/con debate. Fertility and Sterility, 105, 249–255.

    Article  PubMed  Google Scholar 

  • Groth, K. A., Skakkebaek, A., Host, C., et al. (2013). Clinical review: Klinefelter syndrome – A clinical update. Journal of Clinical Endocrinology and Metabolism, 98, 20–30.

    Article  CAS  PubMed  Google Scholar 

  • Harvey, J., Jacobs, P. A., Hassold, T., et al. (1990). The parental origin of 47. XXY males. Birth Defects Original Article Series, 26, 289–296.

    CAS  PubMed  Google Scholar 

  • Herlihy, A. S., & McLachlan, R. I. (2015). Screening for Klinefelter syndrome. Current Opinion in Endocrinology, Diabetes, and Obesity, 22, 224–229.

    Article  CAS  PubMed  Google Scholar 

  • Herlihy, A. S., McLachlan, R. I., Gillam, L., et al. (2011). The psychosocial impact of Klinefelter syndrome and factors influencing quality of life. Genetics in Medicine, 13, 623–642.

    Article  Google Scholar 

  • Kleczkowska, A., Fryns, J. P., & Van den Berghe, H. (1988). X-chromosome polysomy in the male. The Leuven experience 1966–1987. Human Genetics, 80, 16–22.

    Article  CAS  PubMed  Google Scholar 

  • Klinefelter, H. F., Jr., Reifenstein, E. C., Jr., & Albright, F. (1942). Syndrome characterized by gynecomastia aspermatogenesis without a-Leydigism and increased excretion of follicle-stimulating hormone. Journal of Clinical Endocrinology and Metabolism, 2, 615–624.

    Article  CAS  Google Scholar 

  • Kruse, R., Guttenbach, M., Schartmann, B., et al. (1998). Genetic counseling in a patient with XXY/XXXY/XY mosaic Klinefelter’s syndrome: Estimate of sex chromosome aberrations in sperm before intracytoplasmic sperm injection. Fertility and Sterility, 69, 482–485.

    Article  CAS  PubMed  Google Scholar 

  • Lanfranco, F., Kamischke, A., Zitzmann, M., et al. (2004). Klinefelter’s syndrome. Lancet, 364, 273–283.

    Article  CAS  PubMed  Google Scholar 

  • Linden, M. G., Bender, B. G., & Robinson, A. (1995). Sex chromosome tetrasomy and pentasomy. Pediatrics, 96, 672–682.

    CAS  PubMed  Google Scholar 

  • Mandoki, M. W., & Sumner, G. S. (1991). Klinefelter syndrome: The need for early identification and treatment. Clinical Pediatrics (Philadelphia), 30, 161–164.

    Article  CAS  Google Scholar 

  • Meschede, D., Louwen, F., & Nippert, I. (1998). Low rates of pregnancy termination for prenatally diagnosed Klinefelter syndrome and other sex chromosome polysomies. American Journal of Medical Genetics, 80, 330–334.

    Article  CAS  PubMed  Google Scholar 

  • Myhre, S. A., Ruvalcaba, R. H., Johnson, H. R., et al. (1970). The effects of testosterone treatment in Klinefelter’s syndrome. Journal of Pediatrics, 76, 267–276.

    Article  CAS  PubMed  Google Scholar 

  • Nahata, L., Rosoklija, I., Yu, R. N., et al. (2013). Klinefelter syndrome: Are we missing opportunities for early detection? Clinical Pediatrics, 52, 936–941.

    Article  PubMed  Google Scholar 

  • Nielsen, J., Pelsen, B., & Sorensen, K. (1988). Follow-up of 30 Klinefelter males treated with testosterone. Clinical Genetics, 33, 262–269.

    Article  CAS  PubMed  Google Scholar 

  • Nor, N. S. M., & Jalaludin, M. Y. (2016). A rare 47 XXY/46 XX mosaicism with clinical features of Klinefelter syndrome. International Journal of Pediatric Endocrinology, 2016, 11–14.

    Article  Google Scholar 

  • Peet, J., Weaver, D. D., & Vance, G. H. (1998). 49,XXXXY: A distinct phenotype. Three new cases and review. Journal of Medical Genetics, 35, 420–424.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Ratcliffe, S. G., Bancroft, J., Axworthy, D., et al. (1982). Klinefelter’s syndrome in adolescence. Archives of Disease in Childhood, 57, 6–12.

    CAS  PubMed  PubMed Central  Google Scholar 

  • Rocher, L., Moya, L., Correas, J. M., et al. (2016). Testis ultrasound in Klinefelter syndrome infertile men: making the diagnosis and avoiding inappropriate management. Abdominal Radiology, 2016 March 30. [Epub ahead of print].

    Google Scholar 

  • Rovensky, J., Imrich, R., Lazúrová, I., et al. (2010). Rheumatic diseases and Klinefelter syndrome. Annals of the New York Academy of Sciences, 1193, 1–9.

    Article  CAS  PubMed  Google Scholar 

  • Schwartz, I. D., & Root, A. W. (1991). The Klinefelter syndrome of testicular dysgenesis. Endocrinology and Metabolism Clinics of North America, 20, 153–163.

    CAS  PubMed  Google Scholar 

  • Simpson, J. L., & Samango-Sprouse, C. (2013). Prenatal diagnosis and 47,XXY. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 163C, 64–70.

    Article  PubMed  Google Scholar 

  • Smyth, C. M., & Bremner, W. J. (1998). Klinefelter syndrome. Archives of Internal Medicine, 158, 1309–1314.

    Article  CAS  PubMed  Google Scholar 

  • Tartaglia, N., Davis, S., Hench, A., et al. (2008). A new look at XXYY syndrome. Medical and psychological features. American Journal of Medical Genetics. Part A, 146A, 1509–1522.

    Article  PubMed  PubMed Central  Google Scholar 

  • Venkateshwari, A., Srilekha, A., Begum, A., et al. (2010). Clinical and behavioural profile of a rare variant of Klinefelter syndrome-48,XXXY. Indian Journal of Pediatrics, 77, 447–449.

    Article  CAS  PubMed  Google Scholar 

  • Veraart, J. C., Hamulyak, K., & Neumann, H. A. (1995). Leg ulcers and Klinefelter’s syndrome. Archives of Dermatology, 131, 958–959.

    Article  CAS  PubMed  Google Scholar 

  • Verp, M. S., Simpson, J. L., & Martin, A. O. (1983). Hypostatic ulcers in 47,XXY Klinefelter’s syndrome. Journal of Medical Genetics, 20, 100–101.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Visootsak, J., & Graham, J. M., Jr. (2006). Klinefelter syndrome and other sex chromosomal aneuploidies. Orphanet Journal of Rare Diseases, 1, 42–46.

    Article  PubMed  PubMed Central  Google Scholar 

  • Völki, T. M. K., Langer, T., Aigner, T., et al. (2006). Klinefelter syndrome and mediastinal germ cell tumors. American Journal of Medical Genetics, 140A, 471–481.

    Article  Google Scholar 

  • Vorona, E., Zitzmanni, M., Gromoll, J., et al. (2007). Clinical, endocrinological, and epigenetic features of the 46,XX male syndrome, compared with 47,XXY Klinefelter patients. Journal of Clinical Endocrinology & Metabolism, 92, 3458–3465.

    Article  CAS  Google Scholar 

  • Winter, J. S. (1990). Androgen therapy in Klinefelter syndrome during adolescence. Birth Defects Original Article Series, 26, 235–245.

    CAS  PubMed  Google Scholar 

  • Zaleski, W. A., Houston, C. S., & Pozsonyi, J. (1966). The XXXXY chromosome anomaly: Report of three new cases and review of 30 cases from the literature. Canadian Medical Association Journal, 94, 1143–1154.

    CAS  PubMed  PubMed Central  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Rights and permissions

Reprints and permissions

Copyright information

© 2017 Springer Science+Business Media LLC

About this entry

Cite this entry

Chen, H. (2017). Klinefelter Syndrome. In: Atlas of Genetic Diagnosis and Counseling. Springer, New York, NY. https://doi.org/10.1007/978-1-4939-2401-1_141

Download citation

  • DOI: https://doi.org/10.1007/978-1-4939-2401-1_141

  • Published:

  • Publisher Name: Springer, New York, NY

  • Print ISBN: 978-1-4939-2400-4

  • Online ISBN: 978-1-4939-2401-1

  • eBook Packages: MedicineReference Module Medicine

Publish with us

Policies and ethics