Page 137 - PCC11

GENETI C CAUSES OF FEMALE I NFERTI LI TY ( POI )
CHROMOSOMAL (10-13%)
▶ Numerical:
▶ 45,X (monosomy X, Turner): 4-5% • ovarial dysgenesis
• ↑ follicular atresia
• primary amenorrhea
▶ 45,X/46,XX (mosaic Turner): • secundary amenorrhea
▶ 47,XXX: 1-4%
• Oligomenorrhea
• secundary amenorrhea • early menopause
▶ Structural:
▶ X-chr deletions
▶ X-autosomal or autosomale balanced translocations • Robersonian
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The ABC of next generation sequencing-based genetic diagnostics in fertility
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GENETI C CAUSES OF FEMALE I NFERTI LI TY ( POI )
CHROMOSOMAL (10-13%)
• reciprocal
▶ POI critical regions:
• Xp11-Xp21 (POI3)
• Xq13-Xq21 (POI2) to Xq23-q27(POI1)
• q proximal: primary amenorrhea, ↓ breast development & complete ovarian failure (Xq13)
• q distal: POF (Xq25/Xq26) - stature & reproductive function (Xq27/Xq28)
Xp POI3 POI2 POI1
Xq
The ABC of next generation sequencing-based genetic diagnostics in fertility
8-6-2018 | 10
PRECONGRESS COURSE 11 I BARCELONA, SPAIN – 1 JULY 2018 137