Klinefelter syndrome

external

• Synonyms

  • XXY karyotype
  • Kleinfelter syndrome

• Causes

  • 47XXY

• Effects

  • Tall stature
  • Gynaecomastia
  • Anosmia
  • Low testosterone
  • Primary testicular failure
  • Azoospermia
  • Loss of libido
  • Atrial septal defect
  • Ostium primum atrial septal defect
  • Osteoporosis
  • Mental retardation
  • Barr body
  • Carcinoma of breast
  • Hypothyroidism
  • Diabetes mellitus
  • Chronic obstructive pulmonary disease
  • Varicose veins of leg

• Parents

  • Trisomy

• Children

  • Castillo disease

• Description

  • "Incidence 1:1000 These males are phenotypically carriers for X-linked recessive disorders."