Klinefelter syndrome

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

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