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. 2021 Oct 28;14:143. doi: 10.1186/s13048-021-00900-2

Table 3.

Reported pregnant cases in type I BPES patients

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