Lise Aksglaede is MD at the department of growth and reproduction, Rigshospitalet, Copenhagen, Denmark. Her research is focused on Klinefelter syndrome, growth, and puberty.
47,XXY Klinefelter syndrome: Clinical characteristics and age-specific recommendations for medical management†
Version of Record online: 23 JAN 2013
Copyright © 2013 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part C: Seminars in Medical Genetics
Special Issue: Medical and Neurodevelopmental Aspects of XXY and Related Multiple X Conditions
Volume 163, Issue 1, pages 55–63, 15 February 2013
How to Cite
Aksglaede, L., Link, K., Giwercman, A., Jørgensen, N., Skakkebæk, N. E. and Juul, A. (2013), 47,XXY Klinefelter syndrome: Clinical characteristics and age-specific recommendations for medical management. Am. J. Med. Genet., 163: 55–63. doi: 10.1002/ajmg.c.31349
How to Cite this Article:Aksglaede L, Link K, Giwercman A, Jørgensen N, Skakkebæk NE, Juul A. 2013. 47,XXY Klinefelter syndrome: Clinical characteristics and age-specific recommendations for medical management. Am J Med Genet Part C Semin Med Genet 163C: 55–63.
- Issue online: 28 JAN 2013
- Version of Record online: 23 JAN 2013
- Interreg IVA
- androgen substitution;
- Klinefelter syndrome;
- hypergonadotropic hypogonadism;
- tall stature
47,XXY (Klinefelter syndrome) is the most frequent sex chromosomal disorder and affects approximately one in 660 newborn boys. The syndrome is characterized by varying degrees of cognitive, social, behavioral, and learning difficulties and in adulthood additionally primary testicular failure with small testes, hypergonadotropic hypogonadism, tall stature, and eunuchoid body proportions. The phenotype is variable ranging from “near-normal” to a significantly affected individual. In addition, newborns with Klinefelter syndrome generally present with a normal male phenotype and the only consistent clinical finding in KS is small testes, that are most often not identified until after puberty. Decreased awareness of this syndrome among health professionals and a general perception that all patients with 47,XXY exhibit the classic textbook phenotype results in a highly under-diagnosed condition with up to 75% of the patients left undetected. Typically, diagnosis is delayed with the majority of patients identified during fertility workup in adulthood, and only 10% of patients diagnosed prior to puberty. Early detection of this syndrome is recommended in order to offer treatment and intervention at the appropriate ages and stages of development for the purpose of preventing osteopenia/osteoporosis, metabolic syndrome, and other medical conditions related to hypogonadism and to the XXY as well as minimizing potential learning and psychosocial problems. The aim of this review is to present the clinical aspects of XXY and the age-specific recommendations for medical management. © 2013 Wiley Periodicals, Inc.