Table 6.

All of AMHRII -482 A>G homozygote mutations were found in the presence of endometriosis, and two of them were complicated with diminished ovarian reserve (DOR). All cases of AMHRII -482 A>G homozygote mutation were also accompanied by ISV 5-6 C>T homozygote mutation. In the natural pregnancy group, a homozygote mutation was confirmed in all SNPs. -482 A>G homozygote mutation cases consisted of two patients with a past history of repeated pregnancy loss (RPL) and one case of fetal growth restriction (FGR). All cases of -482 A>G homozygote mutation were accompanied by a ISV 5-6 C>T homozygote mutation

Age	Gravity & Parity	Diagnosis or Obstetric outcome	AMH 146 T>G	AMHR −482 A>G	IVS1+149 T>A	ISV5-6 C>T	ISV10+77 A>G
40	G0P0	Endometriosis	Hetero	Homo	Hetero	Homo	Homo
		poor-responder
40	G0P0	Endometriosis	Hetero	Homo	Hetero	Homo	unknown
		poor-responder
34	G0P0	Endometriosis	unknown	Homo	Hetero	Homo	unknown
40	G6P1	37 wks 2,948 g F	Hetero	Homo	Hetero	Homo	Homo
40	G6P1	37 wks 3282 g M	Hetero	Homo	Hetero	Homo	unknown
34	G0P0	37 wks 1200 g M	unknown	Homo	Hetero	Homo	unknown

wks weeks, F female, M male