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

Front Endocrinol (Lausanne). 2023 Oct 20:14:1224574. doi: 10.3389/fendo.2023.1224574. eCollection 2023.


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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Female
  • Humans
  • Infertility, Female* / genetics
  • Infertility, Female* / therapy
  • Multiple Endocrine Neoplasia Type 1*
  • Pregnancy
  • Preimplantation Diagnosis*
  • RNA-Seq
  • Retrospective Studies

Grants and funding

This study was supported by grants from the National Natural Science Foundation of China (grant no. 81873858), the key Project of Research and Development Plan in Hunan Province (grant no. 2021SK2028), and the National Key Research and Development Program of China (grant nos. 2018YFC1004800 and 2021YFC2700404).