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Klinefelter syndrome and its variants: an update and review for the primary pediatrician

J Visootsak1, M Aylstock, J M Graham

  • 1Department of Pediatrics, King-Drew Medical Center, UCLA School of Medicine, Los Angeles, CA, USA.

Clinical Pediatrics
|January 5, 2002
PubMed

Insights

Klinefelter syndrome, the most common human chromosomal abnormality, is better understood through recent studies. Primary care physicians play a key role in managing Klinefelter syndrome, offering guidance and support.

Area of Science:

  • Genetics and Endocrinology
  • Developmental Pediatrics

Background:

  • Klinefelter syndrome (KS) is the most frequent chromosomal abnormality in humans.
  • Previous misconceptions about KS have been challenged by recent prospective, unbiased research.
  • Improved understanding enhances recognition and management for affected individuals.

Purpose of the Study:

  • To review the current knowledge on Klinefelter syndrome and its variants.
  • To emphasize medical and early developmental interventions for KS.
  • To highlight the role of primary care in managing KS.

Main Methods:

  • Review of recent prospective, unbiased studies.
  • Synthesis of current knowledge on KS and its variants.
  • Focus on medical and early developmental interventions.

Main Results:

  • Clarification of previous misconceptions regarding Klinefelter syndrome.
  • Improved recognition and management strategies for KS.
  • Identification of key areas for primary care involvement.

Conclusions:

  • Primary care physicians are crucial for managing KS, providing guidance on endocrinology, behavior, development, and preventive care.
  • Primary care providers act as vital support and advocacy for families of boys with KS.
  • Current knowledge supports enhanced medical and early developmental interventions for individuals with KS.

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