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 TangPublished 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.