A chromosome condition in boys and men that is usually
due to 47 chromosomes with XXY sex chromosomes. XXY is
one of the most common chromosomal abnormalities.
Klinefelter syndrome is a common genetic cause
of male infertility. However, this syndrome often
remains undiagnosed because of the variation in clinical
presentation and insufficient awareness of the syndrome
itself. Clinical characteristics include small testes,
insufficient production of testosterone, and infertility.
XXY males are more likely than other males to show breast
enlargement, have a lack of facial and body hair, and
a rounded body type.
Klinefelter boys tend to
have learning and/or behavioral problems more often
than other boys. Early recognition and hormonal treatment
of the syndrome can substantially improve the quality
of life and prevent serious consequences. Testosterone
replacement corrects the symptoms of androgen deficiency
but it does not remedy the infertility.
Methodology: Fluorescent in Situ Hybridization (FISH) Analysis
Purpose: Confirmation of Clinical Diagnosis/Prenatal Diagnosis
ICD-10 Code Q98.4
Test Requisition: Cytogenetics Requisition
Turn-around-time: 2 days
Lee et al (2007). "Genital Anomalies in Klinefelter's Syndrome". Hormone Research in Pediatrics 68(3):150-155.