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Achieving an optimal pregnancy outcome through the combined utilization of micro-TESE and ICSI in cryptorchidism associated with a non-canonical splicing variant in RXFP2.

Lewen RuanMeng GuHao GengZongliu DuanHui YuZhongmei ShaoKuokuo LiMingrong LvDongdong Tang
Published in: Journal of assisted reproduction and genetics (2024)
This is the first cryptorchidism case carrying a novel causative non-canonical splicing RXFP2 variant. The combined approach of micro-TESE and ICSI contributed to an optimal pregnancy outcome. Our literature review demonstrated that RXFP2 variants caused cryptorchidism in a recessive inheritance pattern, rather than a dominant pattern.
Keyphrases
  • pregnancy outcomes
  • preterm birth
  • pregnant women
  • copy number
  • mitochondrial dna
  • case report
  • gene expression
  • autism spectrum disorder