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
Abstract Background FOXL2 mutations in human cause Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES). While type II BPES solely features eyelid abnormality, type I BPES involves not only eyelid but also ovary, leading to primary ovarian insufficiency (POI) and female infertility. Cur...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
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BMC
2021-10-01
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| Series: | Journal of Ovarian Research |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s13048-021-00900-2 |
| _version_ | 1828078624294567936 |
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| author | Yiqi Yu Mengxia Ji Weihai Xu Ling Zhang Ming Qi Jing Shu |
| author_facet | Yiqi Yu Mengxia Ji Weihai Xu Ling Zhang Ming Qi Jing Shu |
| author_sort | Yiqi Yu |
| collection | DOAJ |
| description | Abstract Background FOXL2 mutations in human cause Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES). While type II BPES solely features eyelid abnormality, type I BPES involves not only eyelid but also ovary, leading to primary ovarian insufficiency (POI) and female infertility. Current mainstream reproductive option for type I BPES is embryo or oocyte donation. Attempts on assisted reproductive technology (ART) aiming biological parenthood in this population were sparse and mostly unsuccessful. Case presentation Two Chinese type I BPES patients with low anti-müllerian hormone (AMH) and elevated follicle stimulating hormone (FSH) presented with primary infertility in their early 30s. Genetic studies confirmed two heterozygous duplication mutations that were never reported previously in East Asian populations. They received in vitro fertilization (IVF) treatment and both exhibited resistance to gonadotropin and difficulty in retrieving oocytes in repeated cycles. Doubled to quadrupled total gonadotropin doses were required to awaken follicular response. Patient 1 delivered a baby girl with the same eyelid phenotype and patient 2 had ongoing live intrauterine pregnancy at the time of manuscript submission. Conclusions This is the second reported live birth of biological offspring in type I BPES patients, and first success using IVF techniques. It confirmed that ART is difficult but feasible in type I BPES. It further alerts clinicians and genetic counsellors to type female BPES patients with caution in view of the precious and potentially narrowed reproductive window. |
| first_indexed | 2024-04-11T02:49:42Z |
| format | Article |
| id | doaj.art-617657395cec4ea0bc3dba3fa2e38cfa |
| institution | Directory Open Access Journal |
| issn | 1757-2215 |
| language | English |
| last_indexed | 2024-04-11T02:49:42Z |
| publishDate | 2021-10-01 |
| publisher | BMC |
| record_format | Article |
| series | Journal of Ovarian Research |
| spelling | doaj.art-617657395cec4ea0bc3dba3fa2e38cfa2023-01-02T16:46:08ZengBMCJournal of Ovarian Research1757-22152021-10-0114111210.1186/s13048-021-00900-2Confrontment and solution to gonadotropin resistance and low oocyte retrieval in in vitro fertilization for type I BPES: a case series with review of literatureYiqi Yu0Mengxia Ji1Weihai Xu2Ling Zhang3Ming Qi4Jing Shu5Department of Reproductive Endocrinology, Reproductive Medicine Center, Zhejiang Provincial People’s Hospital, Affiliated People’s Hospital, Hangzhou Medical CollegeDepartment of Reproductive Endocrinology, Reproductive Medicine Center, Zhejiang Provincial People’s Hospital, Affiliated People’s Hospital, Hangzhou Medical CollegeDepartment of Reproductive Endocrinology, Reproductive Medicine Center, Zhejiang Provincial People’s Hospital, Affiliated People’s Hospital, Hangzhou Medical CollegeDepartment of Reproductive Endocrinology, Reproductive Medicine Center, Zhejiang Provincial People’s Hospital, Affiliated People’s Hospital, Hangzhou Medical CollegeDepartment of Cell Biology and Medical Genetics, Zhejiang University School of MedicineDepartment of Reproductive Endocrinology, Reproductive Medicine Center, Zhejiang Provincial People’s Hospital, Affiliated People’s Hospital, Hangzhou Medical CollegeAbstract Background FOXL2 mutations in human cause Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES). While type II BPES solely features eyelid abnormality, type I BPES involves not only eyelid but also ovary, leading to primary ovarian insufficiency (POI) and female infertility. Current mainstream reproductive option for type I BPES is embryo or oocyte donation. Attempts on assisted reproductive technology (ART) aiming biological parenthood in this population were sparse and mostly unsuccessful. Case presentation Two Chinese type I BPES patients with low anti-müllerian hormone (AMH) and elevated follicle stimulating hormone (FSH) presented with primary infertility in their early 30s. Genetic studies confirmed two heterozygous duplication mutations that were never reported previously in East Asian populations. They received in vitro fertilization (IVF) treatment and both exhibited resistance to gonadotropin and difficulty in retrieving oocytes in repeated cycles. Doubled to quadrupled total gonadotropin doses were required to awaken follicular response. Patient 1 delivered a baby girl with the same eyelid phenotype and patient 2 had ongoing live intrauterine pregnancy at the time of manuscript submission. Conclusions This is the second reported live birth of biological offspring in type I BPES patients, and first success using IVF techniques. It confirmed that ART is difficult but feasible in type I BPES. It further alerts clinicians and genetic counsellors to type female BPES patients with caution in view of the precious and potentially narrowed reproductive window.https://doi.org/10.1186/s13048-021-00900-2“Infertility”“Blepharophimosisptosisand epicanthus inversus syndrome”“In vitro fertilization”“FOXL2” |
| spellingShingle | Yiqi Yu Mengxia Ji Weihai Xu Ling Zhang Ming Qi Jing Shu 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 Journal of Ovarian Research “Infertility” “Blepharophimosis ptosis and epicanthus inversus syndrome” “In vitro fertilization” “FOXL2” |
| title | 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 |
| title_full | 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 |
| title_fullStr | 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 |
| title_full_unstemmed | 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 |
| title_short | 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 |
| title_sort | 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 |
| topic | “Infertility” “Blepharophimosis ptosis and epicanthus inversus syndrome” “In vitro fertilization” “FOXL2” |
| url | https://doi.org/10.1186/s13048-021-00900-2 |
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