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An overview of CFTR mutation profiles and assisted reproductive technology outcomes in Chinese patients with congenital obstructive azoospermia

  • Reproductive physiology and disease
  • Published:
Journal of Assisted Reproduction and Genetics Aims and scope Submit manuscript

Abstract

Purpose

The cystic fibrosis transmembrane conductance regulator (CFTR) is the most common causative gene attributed to congenital obstructive azoospermia (OA). The aim of this study was to conduct an epidemiological survey of congenital OA patients, to screen for CFTR mutations, and to follow their pregnancy outcomes in assisted reproductive technology (ART).

Methods

This cohort study enrolled congenital OA patients undergoing ART and whole-exome sequencing from January 2018 to September 2023. Semen parameters, sex hormones, and seminal plasma biochemistry were evaluated. CFTR mutations identified in OA patients were analyzed. In addition, the laboratory outcomes, clinical outcomes, and neonatal outcomes were compared between OA patients carrying two CFTR mutations and the others after surgical sperm extraction-intracytoplasmic sperm injection (ICSI) treatment.

Results

A total of 76 patients with congenital OA were enrolled. CFTR mutations were identified in 35 (46.1%) congenital OA patients. A total of 60 CFTR mutation sites of 27 types were identified, and 10 of them were novel. The average frequency was 1.71 (60/35) per person. The most common mutation was c.1210-11T > G (25%, 15/60). After ICSI treatment, there were no statistically significant differences in laboratory outcomes, clinical outcomes, and neonatal outcomes between OA patients carrying two CFTR mutations (n = 25) and other OA patients (n = 51).

Conclusion

Apart from the IVS9-5T mutation, the genetic mutation pattern of CFTR in Chinese OA patients is heterogeneous, which is significantly different from that of Caucasians. Although carrying two CFTR mutations or not had no effect on the pregnancy outcomes in OA patients after ICSI, genetic counseling is still recommended for such patients.

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Data availability

The data that support the findings of this study are available from the corresponding author upon reasonable request.

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Funding

This study was supported by the National Key Research and Development Project (2021YFC2700603 and 2022YFC2702503) and the Key Research of Huazhong University of Science and Technology, Tongji Hospital (2022A20).

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Authors and Affiliations

  1. Reproductive Medicine Center, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, 430030, China

    Meng Wang, Juepu Zhou, Rui Long, Ruolin Mao, Limin Gao, Xiangfei Wang, Yinwei Chen, Lei Jin & Lixia Zhu

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  1. Meng Wang
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  2. Juepu Zhou
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  3. Rui Long
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  4. Ruolin Mao
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  8. Lei Jin
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  9. Lixia Zhu
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Contributions

Conceptualization: LZ and LJ. Sample collection: RL, RM, XW, and LG. Experiment conduction: MW, JZ. Formal analysis: MW, JZ. Funding acquisition: LZ and LJ. Writing—original draft: MW. Writing—review and editing: LZ, YC, and LJ.

Corresponding authors

Correspondence to Lei Jin or Lixia Zhu.

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Ethics approval and consent to participate

This study was approved by the Ethical Committee of Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology with written informed consent provided by the participants.

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The authors declare no competing interests.

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Wang, M., Zhou, J., Long, R. et al. An overview of CFTR mutation profiles and assisted reproductive technology outcomes in Chinese patients with congenital obstructive azoospermia. J Assist Reprod Genet 41, 505–513 (2024). https://doi.org/10.1007/s10815-023-03004-6

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  • DOI: https://doi.org/10.1007/s10815-023-03004-6

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