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. 2023 Oct 20:14:1224574.
doi: 10.3389/fendo.2023.1224574. eCollection 2023.

Integrated treatment guided by RNA-seq-based endometrial receptivity assessment for infertility complicated by MEN1

Xi Huang #  1   2 , Jing Fu #  1   2 , Qiong Zhang  1   2 , Jing Zhao  1   2 , Zhongyuan Yao  1   2 , Qiuping Xia  1   2 , Hongying Tang  1   2 , Aizhuang Xu  1   2 , Aihua He  3 , Shaolin Liang  4   5   6 , Sijia Lu  7 , Yanping Li  1   2
Affiliations

Integrated treatment guided by RNA-seq-based endometrial receptivity assessment for infertility complicated by MEN1

Xi Huang et al. Front Endocrinol (Lausanne). .

Abstract

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.

Keywords: MEN1; PGT-M; RNA-seq; endometrial receptivity; personalized embryo transfer.

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Conflict of interest statement

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.

Figures

Figure 1
Figure 1
Validation of rsERT-guided integrated treatment scheme. (A) rsERT-guided integrated treatment scheme. The integrated treatment scheme is based on the combination of pET (PGT with rsERT) and MDT. (B) pET will be performed at the timing of optimal WOI predicted by rsERT, MDT will also be performed to ensure complication management if needed. (C) Data collected from 511 cycles treated in our center were divided into two major groups: performed PGT alone (control group) and rsERT group (further divided into pET and non-displaced groups).
Figure 2
Figure 2
MEN1 and ER abnormality. ER abnormality in this reported case may be induced by the MEN1-associated endocrine conditions but not MEN1 mutation. (A) Indication of the rsERT biopsy day and presentation of rsERT result; the purple dot shows that the patient’s sample was in the pre-receptive area. (B) rsERT result for the patient with MEN1. (C) PPI analysis of MEN1 with the 102 variants identified; no strong association can be observed. (D) Restoration of endocrine homeostasis of the patient; hormones maintained a normal level under MDT management.
Figure 3
Figure 3
Health live birth. (A) Unaffected blastocysts were obtained by PGT-M; E11 was selected on the basis of its higher blastocyst grade in Gardner score system. (B) Amniocentesis showed no abnormalities in fetal chromosomes and no MEN1 c.1268G>A mutation was detected. (C) A baby was born with Apgar score 9-10-10, without positive airway pressure support for respiratory distress. The infant reached his developmental milestones by his age.
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