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GENETIC CAUSES OF MALE INFERTILITY
CHROMOSOMAL (10-40%)
▶ Numerical: sex chromosomal aneuploidies
▶ 47,XXY: Klinefelter’s syndrome: complete or mosaic • primary testicular failure
• 5.0% severe oligozoospermia • 10.0% azoospermia
▶ 47,XYY
▶ 46,XX males
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The ABC of next generation sequencing-based genetic diagnostics in fertility
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GENETIC CAUSES OF MALE INFERTILITY
CHROMOSOMAL (10-40%)
▶ Structural:
▶ Yq microdeletions: AZF deletions (5.0-20.0%)
• 10.0–15.0% of idiopathic azoospermia and severe oligoasthenoteratozoospermia (OAT) (< 5M sperm/ml)
• AZFa region: rarely
• AZFb region: less frequently
• AZFc region: most frequently • Complete
• Partial: gr/gr and b2/b3: 1.6 and 1.8 Mb ▶ Y-chr microduplications:
• AZFc region: in combination with microdeletions
Yp Yq
p8 p7p6 p5p4 p3p2 p1
AZFa AZFb AZFc
The ABC of next generation sequencing-based genetic diagnostics in fertility
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PRECONGRESS COURSE 11 I BARCELONA, SPAIN – 1 JULY 2018 135