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

Aksglaede, Lise ; Link, Katarina LU ; Giwercman, Aleksander LU ; Jorgensen, Niels ; Skakkebaek, Niels E. and Juul, Anders (2013) In American Journal of Medical Genetics. Part C: Seminars in Medical Genetics 163C(1). p.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... (More)
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. (c) 2013 Wiley Periodicals, Inc. (Less)
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author
; ; ; ; and
organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
androgen substitution, fertility, Klinefelter syndrome, hypergonadotropic hypogonadism, tall stature
in
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics
volume
163C
issue
1
pages
55 - 63
publisher
Wiley-Blackwell
external identifiers
  • wos:000314171500008
  • scopus:84873086506
  • pmid:23345262
ISSN
1552-4868
DOI
10.1002/ajmg.c.31349
language
English
LU publication?
yes
id
33175453-e9d4-4a6d-8a2e-ec03ee510ab7 (old id 3590921)
alternative location
http://www.ncbi.nlm.nih.gov/pubmed/23345262
date added to LUP
2016-04-01 10:09:58
date last changed
2022-05-13 06:02:41
@article{33175453-e9d4-4a6d-8a2e-ec03ee510ab7,
  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. (c) 2013 Wiley Periodicals, Inc.}},
  author       = {{Aksglaede, Lise and Link, Katarina and Giwercman, Aleksander and Jorgensen, Niels and Skakkebaek, Niels E. and Juul, Anders}},
  issn         = {{1552-4868}},
  keywords     = {{androgen substitution; fertility; Klinefelter syndrome; hypergonadotropic hypogonadism; tall stature}},
  language     = {{eng}},
  number       = {{1}},
  pages        = {{55--63}},
  publisher    = {{Wiley-Blackwell}},
  series       = {{American Journal of Medical Genetics. Part C: Seminars in Medical Genetics}},
  title        = {{47,XXY Klinefelter syndrome: Clinical characteristics and age-specific recommendations for medical management}},
  url          = {{http://dx.doi.org/10.1002/ajmg.c.31349}},
  doi          = {{10.1002/ajmg.c.31349}},
  volume       = {{163C}},
  year         = {{2013}},
}