Table 3.
Number | Ethnicity | Age | FOXL2 mutation | Amino acid changes | Clinical findings | Hormone status | Fertility therapy | Pregnancy outcome | Follow up | Reference |
---|---|---|---|---|---|---|---|---|---|---|
1 | N/A | 30 | Genetic finding not given | N/A | Eyelid abnormality, oligomenorrhea, night sweats, Gn resistance | FSH 3.7-27.8mIU/mL, AMH 0.1-0.3ng/ml | AID with monofollicular ovulation was achieved by 14-day course of rFSH at 300IU/day. | Complicated by PTL and PE. Live DCDA twin births at 35 weeks |
Patient on OCP after 1month breastfeeding. One twin had eye changes |
Roth and Alvero, 2014 |
2 | Chinese | 32 | c.843_859dupGGCCGCACCCCCGCCTC | p.Pro287ArgfsTer75 | Eyelid abnormality, infertility, Gn resistance | FSH 10.94-13.7mIU/mL, AMH 0.45-0.56ng/ml | Conventional IVF | Complicated by APH, PPROM and PTL. Live birth at 33 weeks |
Breastfeeding for more than 1 year. Baby girl had eyelid changes |
Patient 1 in this article |
3 | Chinese | 32 | c.178_192dupGGCGATGAGCGCCAC | p.Val60_Ala64dup | Eyelid abnormality, oligomenorrhea, infertility, Gn resistance | FSH 5.25-14.37mIU/mL, AMH 1.0-1.59ng/ml | Conventional IVF | Ongoing pregnancy over 29weeks | N/A | Patient 2 in this article |
Gn Gonadotropins, AID Artificial insemination with donor sperm, PTL Preterm labor, PE Preeclampsia, DCDA Dichorionic diamniotic, OCP Oral contraceptive pills, APH Antepartum hemorrhage, PPROM Preterm premature rupture of membrane