PMID- 37929040 OWN - NLM STAT- MEDLINE DCOM- 20231107 LR - 20231107 IS - 1664-2392 (Print) IS - 1664-2392 (Electronic) IS - 1664-2392 (Linking) VI - 14 DP - 2023 TI - Integrated treatment guided by RNA-seq-based endometrial receptivity assessment for infertility complicated by MEN1. PG - 1224574 LID - 10.3389/fendo.2023.1224574 [doi] LID - 1224574 AB - BACKGROUND: Preimplantation genetic testing (PGT) serves as a tool to avoid genetic disorders in patients with known genetic conditions. However, once a selected embryo is transferred, implantation success is attained independent of embryo quality. Using PGT alone is unable to tackle implantation failure caused by endometrial receptivity (ER) abnormalities in these patients. METHODS: We validated our newly developed RNA-seq-based ER test (rsERT) in a retrospective cohort study including 511 PGT cycles and reported experience in treating an infertile female patient complicated by multiple endocrine neoplasia type 1 (MEN1). RESULTS: Significant improvement in the clinical pregnancy rate was found in the performed personalized embryo transfer (pET) group (CR, 69.7%; P = 0.035). In the rare MEN1 case, pET was done according to the prediction of the optimal time of window of implantation after unaffected blastocysts were obtained by PGT-M, which ultimately led to a healthy live birth. However, none of the mRNA variants identified in the patient showed a strong association with the MEN1 gene. CONCLUSIONS: Applying the new rsERT along with PGT improved ART outcomes and brought awareness of the importance of the ER examination in MEN1 infertile female patients. MEN1-induced endocrine disorder rather than MEN1 mutation contributes to the ER abnormality. TRIAL REGISTRATION: Reproductive Medicine Ethics Committee of Xiangya Hospital Registry No.: 2022010. CI - Copyright (c) 2023 Huang, Fu, Zhang, Zhao, Yao, Xia, Tang, Xu, He, Liang, Lu and Li. FAU - Huang, Xi AU - Huang X AD - Department of Reproductive Medicine, Xiangya Hospital, Central South University, Changsha, Hunan, China. AD - Clinical Research Center for Women's Reproductive Health in Hunan Province, Changsha, Hunan, China. FAU - Fu, Jing AU - Fu J AD - Department of Reproductive Medicine, Xiangya Hospital, Central South University, Changsha, Hunan, China. AD - Clinical Research Center for Women's Reproductive Health in Hunan Province, Changsha, Hunan, China. FAU - Zhang, Qiong AU - Zhang Q AD - Department of Reproductive Medicine, Xiangya Hospital, Central South University, Changsha, Hunan, China. AD - Clinical Research Center for Women's Reproductive Health in Hunan Province, Changsha, Hunan, China. FAU - Zhao, Jing AU - Zhao J AD - Department of Reproductive Medicine, Xiangya Hospital, Central South University, Changsha, Hunan, China. AD - Clinical Research Center for Women's Reproductive Health in Hunan Province, Changsha, Hunan, China. FAU - Yao, Zhongyuan AU - Yao Z AD - Department of Reproductive Medicine, Xiangya Hospital, Central South University, Changsha, Hunan, China. AD - Clinical Research Center for Women's Reproductive Health in Hunan Province, Changsha, Hunan, China. FAU - Xia, Qiuping AU - Xia Q AD - Department of Reproductive Medicine, Xiangya Hospital, Central South University, Changsha, Hunan, China. AD - Clinical Research Center for Women's Reproductive Health in Hunan Province, Changsha, Hunan, China. FAU - Tang, Hongying AU - Tang H AD - Department of Reproductive Medicine, Xiangya Hospital, Central South University, Changsha, Hunan, China. AD - Clinical Research Center for Women's Reproductive Health in Hunan Province, Changsha, Hunan, China. FAU - Xu, Aizhuang AU - Xu A AD - Department of Reproductive Medicine, Xiangya Hospital, Central South University, Changsha, Hunan, China. AD - Clinical Research Center for Women's Reproductive Health in Hunan Province, Changsha, Hunan, China. FAU - He, Aihua AU - He A AD - Department of Reproductive Medicine Center, The Third Xiangya Hospital, Central South University, Changsha, Hunan, China. FAU - Liang, Shaolin AU - Liang S AD - National Comprehensive Utilization of Science and Technology Information Resources and Public Service Center, Scientific and Technical Information (STI)-Zhilian Research Institute for Innovation and Digital Health, Beijing, China. AD - "Mobile Health" Ministry of Education-China Mobile Joint Laboratory, Xiangya Hospital, Central South University, Changsha, China. AD - Institute for Six-sector Economy, Fudan University, Shanghai, China. FAU - Lu, Sijia AU - Lu S AD - Department of Clinical Research, Yikon Genomics Company, Ltd., Suzhou, Jiangsu, China. FAU - Li, Yanping AU - Li Y AD - Department of Reproductive Medicine, Xiangya Hospital, Central South University, Changsha, Hunan, China. AD - Clinical Research Center for Women's Reproductive Health in Hunan Province, Changsha, Hunan, China. LA - eng PT - Journal Article PT - Research Support, Non-U.S. Gov't DEP - 20231020 PL - Switzerland TA - Front Endocrinol (Lausanne) JT - Frontiers in endocrinology JID - 101555782 SB - IM MH - Pregnancy MH - Humans MH - Female MH - Retrospective Studies MH - *Multiple Endocrine Neoplasia Type 1 MH - RNA-Seq MH - *Preimplantation Diagnosis MH - *Infertility, Female/genetics/therapy PMC - PMC10623411 OTO - NOTNLM OT - MEN1 OT - PGT-M OT - RNA-seq OT - endometrial receptivity OT - personalized embryo transfer COIS- Author SJL is employed by Yikon Genomics Company, Ltd. The remaining authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest. EDAT- 2023/11/06 06:42 MHDA- 2023/11/07 06:45 PMCR- 2023/01/01 CRDT- 2023/11/06 04:45 PHST- 2023/05/17 00:00 [received] PHST- 2023/08/28 00:00 [accepted] PHST- 2023/11/07 06:45 [medline] PHST- 2023/11/06 06:42 [pubmed] PHST- 2023/11/06 04:45 [entrez] PHST- 2023/01/01 00:00 [pmc-release] AID - 10.3389/fendo.2023.1224574 [doi] PST - epublish SO - Front Endocrinol (Lausanne). 2023 Oct 20;14:1224574. doi: 10.3389/fendo.2023.1224574. eCollection 2023.