Male Infertility
Klinefelter Syndrome (47,XXY)
The most common sex chromosome aneuploidy in males. Small testes, azoospermia, and low testosterone are the norm, but focal spermatogenesis allows sperm retrieval via mTESE in ~50% of cases.
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Overview
Overview
The most common sex chromosome aneuploidy in males. Small testes, azoospermia, and low testosterone are the norm, but focal spermatogenesis allows sperm retrieval via mTESE in ~50% of cases.
Symptoms
Azoospermia
Small firm testes
Tall stature with long limbs
Gynaecomastia
Low testosterone
Causes
1
Non-disjunction during meiosis producing extra X chromosomeHow It's Diagnosed
Karyotype (46,XXY confirmed)
FSH, LH (elevated)
Testosterone (low)
AMH (low)
Semen analysis
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