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Klinefelter syndrome.
Daniel J Wattendorf1, Maximilian Muenke
1National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892-3717, USA.
American Family Physician
|December 14, 2005
Summary
Klinefelter syndrome is a genetic disorder affecting males, characterized by an extra X chromosome. Early recognition by family physicians is crucial for timely diagnosis and appropriate future care planning.
Area of Science:
- Medical Genetics
- Pediatric Endocrinology
- Clinical Medicine
Background:
- Medical genomics is a rapidly evolving field impacting pediatric care.
- Genetic syndromes require increased physician awareness for accurate diagnosis.
- Family physicians play a key role in identifying and managing childhood disorders.
Purpose of the Study:
- To enhance family physician awareness of genetic syndromes.
- To provide concise information on recognizing and diagnosing specific genetic disorders.
- To outline the future care needs for children diagnosed with genetic conditions.
Main Methods:
- This article is a review of existing literature on Klinefelter syndrome.
- Information is synthesized to provide practical guidance for clinicians.
- The focus is on clinical recognition and management strategies.
Main Results:
- Klinefelter syndrome (47,XXY) is a common chromosomal abnormality in males.
- Clinical features can be subtle and vary widely.
- Diagnosis often occurs later in life, highlighting the need for increased awareness.
Conclusions:
- Increased awareness of Klinefelter syndrome among family physicians can lead to earlier diagnosis.
- Timely diagnosis facilitates appropriate medical, developmental, and psychological support.
- This review serves as a resource for family physicians managing patients with Klinefelter syndrome.