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Klinefelter Syndrome

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PRESENTATION OUTLINE

Klinefelter Syndrome

The rare XXY syndrome

KLINEFELTER

  • Rare Syndrome (47XXY)
  • A genetic condition in which a male is born with an extra copy of the X chromosomes
  • Requires a medical diagnosis
  • Lab tests or imaging
  • Fewer than 200,000 US cases a year
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DISORDER

  • The chromosome affected is the sex chromosome
  • It changes from XY from the parents to XXY both genes from both parents
  • Klinefelters syndrome is a random mutation appearing during the fetus stage
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WHAT DOES IT DO?

  • Klinefelter syndrome (KS) is a condition that occurs in men who have an extra X chromosome. The syndrome can affect different stages of physical, language, and social development.
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MORE OF WHAT KF DOES

  • The most common symptom is infertility. Boys may be taller than other boys their age, with more fat around the belly.
  • Sadly, in retrospect, the male genetics are XY and they get an extra copy becoming XXY meaning almost both male and female!
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SYMPTOMS

  • Breast growth Less facial and body hair Reduced muscle tone Narrower shoulders and wider hips Weaker bones Lower energy
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HOW TO DIAGNOSE KS
To find out if your son has Klinefelter syndrome, your doctor will ask questions about his past health, do a physical exam, and order a chromosome test called a karyotype. In adult men, lab tests in addition to a karyotype may be done, such as hormone tests or a sperm analysis, if Klinefelter syndrome is suspected.

TREATMENTS AND MORE

  • Can't be cured, but treatment may help Treatment may include testosterone replacement and fertility treatment. Prescription Hormones: Testosterone by injection (Delatestryl), buccal (Striant), through the skin (Androgel), or to the affected area (Axiron) Also common Procedures: Assisted reproductive technology Other treatments: Androgen replacement therapy Specialists Speech therapist: Specializes in voice rehabilitation. Endocrinologist: Treats metabolic and hormone disorders. Pediatrician: Provides medical care for infants, children, and teenagers. Urologist: Treats urinary tract diseases. Medical geneticist: Diagnoses and manages hereditary disorders.
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BY KAYLA ENDRESON AND JADELYN DIDIER

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