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Biallelic RXFP2 variants lead to congenital bilateral cryptorchidism and male infertility, supporting a role of RXFP2 in spermatogenesis.

Human reproduction (Oxford, England) - 1 Oct 2024

Syryn Hannes, Van de Velde Julie, De Clercq Griet, Verdin Hannah, Dheedene Annelies, Peelman Frank, Sinclair Andrew, Ayers Katie L, Bathgate Ross A D, Cools Martine, De Baere Elfride

Abstract excerpt

STUDY QUESTION: Does RXFP2 disruption impair male fertility? SUMMARY ANSWER: We identified biallelic variants in RXFP2 in patients with male infertility due to spermatogenic arrest at the spermatid stage, supporting a role of RXFP2 in human spermatogenesis, specifically in germ cell maturation. WHAT IS KNOWN ALREADY: Since RXFP2, the receptor for INSL3, plays a crucial role in testicular descent during prenatal...

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PMID: 39222519
DOI: 10.1093/humrep/deae195

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Biallelic RXFP2 variants lead to congenital bilateral cryptorchidism and male infertility, supporting a role of RXFP2 in spermatogenesis.PMID 39222519Read ↗

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