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Table 3 Reported pregnant cases in type I BPES patients

From: Confrontment and solution to gonadotropin resistance and low oocyte retrieval in in vitro fertilization for type I BPES: a case series with review of literature

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

  1. 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