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47,XXY Klinefelter syndrome: Clinical characteristics and age-specific recommendations for medical management

Authors

  • Lise Aksglaede,

    Corresponding author
    • Department of Growth and Reproduction GR, Rigshospitalet, Section 5064, Blegdamsvej 9, Copenhagen Ø DK-2100, Denmark.
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    • Lise Aksglaede is MD at the department of growth and reproduction, Rigshospitalet, Copenhagen, Denmark. Her research is focused on Klinefelter syndrome, growth, and puberty.

  • Katarina Link,

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    • Katarina Link is clinical endocrinologist at Reproductive Medicine Centre, Skåne University Hospital Malmö, Sweden. Her research interest includes transsexualism and endocrine late effects after chemotherapy.

  • Aleksander Giwercman,

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    • Aleksander Giwercman is Clinical Andrologist, chairman of Reproductive Medicine Centre at Skåne University Hospital and professor in Reproductive Medicine at Lund University. His early research has focused on detection and high-risk groups of carcinoma-in-situ testis. During the last years he has been interested in gene-environment interaction in relation to male reproductive disorders and effects of cancer and cancer therapy on male reproductive function. Furthermore, he has been involved in studies dealing with clinical aspects of sperm DNA damage.

  • Niels Jørgensen,

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    • Niels Jørgensen is clinical endocrinologist and EAA certified andrologist at the Department of Growth and Reproduction, Rigshospitalet, Copenhagen, Denmark. His research interest includes semen quality and Leydig cell function during normal and pathological conditions including regulation of testicular function.

  • Niels E Skakkebæk,

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    • Niels E. Skakkebaek is MD and clinical endocrinologist at the department of growth and reproduction, Rigshospitalet, Copenhagen, Denmark. His research has been centered around testicular disorders in children and adults, for example, including infertility, carcinoma in situ testis, germ cell cancer, and hypogonadism, including Klinefelter syndrome. Recently he has focused on fetal origin of adult testicular problems and author of the hypothesis of testicular dygenesis syndrome.

  • Anders Juul

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    • Anders Juul is clinical professor at the University of Copenhagen, and head of the department of growth and reproduction. He is an MD and working as pediatric endocrinologist and andrologist (EAA certified). His research interests include growth and pubertal disorders, testicular function and sex chromosome disorders.


  • 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.

Abstract

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.

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