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Klinefelter syndrome also known as 47,XXY or XXY, is the set of symptoms that result from two or more

klinefelter

Malcolm Gin (photographer) https://commons.wikimedia.org/wiki/File:Bodymorphproj_mkg_modA001_20070325_pos03.jpg

X chromosomes in males. Apart from 47,XXY there also 48,XXXY and 49,XXXXY types exist. This is called as variants of Klinefelter syndrome. Klinefelter syndrome is a form of primary testicular failure, with elevated gonadotropin levels due to lack of feedback inhibition by the pituitary gland.

Findings

  • tall, slim, underweight
  • long limb
  • gynecomastia
  • lack of facial hair (Androgen Deficiency)
  • antisocial and aggressive behavior
  • infertility due to hypogonadism (Small atrophic testes)

Dx

  •  Laboratory → Increase FSH, increase LH, increase estradiol, decrease testosterone

Tx

  • Androgen therapy
  • Speech and behavioral therapy
  • Treatment for infertility: microsurgical testicular sperm extraction (TESE) and the use of freshly retrieved sperm for in-vitro fertilization (IVF)

 

Men with Klinefelter syndrome are at a higher risk of autoimmune diseases, diabetes mellitus, leg ulcers, osteopenia and osteoporosis, tumors (breast and germ cells), systemic lupus erythematosus, rheumatoid arthritis, and Sjögren syndrome

 

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