Kilnefelter Syndrome and Its Variants: An Update and Review for the Primary Pediatrician

@article{Visootsak2001KilnefelterSA,
  title={Kilnefelter Syndrome and Its Variants: An Update and Review for the Primary Pediatrician},
  author={Jeannie Visootsak and M Aylstock and John M Graham},
  journal={Clinical Pediatrics},
  year={2001},
  volume={40},
  pages={639 - 651}
}
Klinefelter syndrome is the most common chromosomal abnormality in humans. Recent prospective, unbiased studies have clarified many of the previous misconceptions associated with Klinefelter syndrome, thereby improving our recognition and management of this condition for affected individuals. The primary-care physician has an important role in caring for these individuals and their families by providing anticipatory guidance regarding issues relating to endocrinology, behavior, development, and… Expand
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TLDR
The features that may prompt the physicians to look after patients with KS both for the syndrome and correlated diseases are highlighted and it is provided that, during the different phases of life, there might be some advantages in establishing the diagnosis and starting proper follow-up and treatment. Expand
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TLDR
New data on etiology and clinical features of Klinefelter syndrome is summarized in order to derive research priorities and Behavioral and expressive language difficulties are amenable to treatment by androgen therapy and psychological help. Expand
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Klinefelter syndrome: awareness and index of suspicion.
TLDR
A.H., a 15-year-old boy, presents for an annual health maintenance visit, and the diagnosis of Klinefelter syndrome is confirmed. Expand
Retrospective Study of Klinefelter Syndrome in Chinese Boys
TLDR
The clinico-hormonal features at presentation were similar to that in Western series, except, gynaecomastia was not as common, and early recognition of KS is important to facilitate timely treatment and family planning. Expand
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TLDR
Clinical and laboratory data which differentiate Klinefelter syndrome patients according to age group are identified, finding the most important data for diagnosis are testicular volume, hormone levels and presence of azoospermia in spermiogram, especially in puberty and adult life. Expand
[Klinefelter syndrome].
TLDR
Klinefelter syndrome is usually underdiagnosed, with an estimated 25% of the expected number of patients being ever diagnosed, and only a minority being diagnosed in childhood. Expand
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