Klinefelter’s syndrome Flashcards
What is Klinefelter’s syndrome?
Klinefelter’s syndrome is a genetic condition that only affects males. Affected males have an extra X chromosome
What will you find on a history taking of Klinefelter’s syndrome?
Symptoms:
Children - delayed speech or learning difficulties, rapid growth in mid-childhood, or truncal obesity.
Adults - hypogonadism, infertility, failure of sexual maturation (loss of libido, impotence)
Risk Factors:
history of undescended testes
What will you find on examination of Klinefelter’s syndrome ?
End of the bed:
Tall and slender, long legs, narrow shoulders and wide hips.
Face:
Decreased facial hair
Chest:
Gynaecomastia
Abdomen:
Legs:
Small firm testes
Decreased pubic hair
What investigations will you order in Klinefelter’s syndrome?
May be diagnosed before birth, through amniocentesis or chorionic villus sampling.
Bloods:
Testosterone - Low
LH/FSH - Rasied
Diagnosis is confirmed by chromosomal analysis.
What is the treatment of Klinefelter’s syndrome?
Testosterone replacement - As they enter puberty
Infertility - Intracytoplasmic injection of sperm or Artificla insemination by donor
Surgery:
Plastic surgery may be required for gynaecomastia.
