Further insights into the role of T222P variant of RXFP2 in non-syndromic cryptorchidism in two Mediterranean populations

International Journal of Andrology
Elisabet ArsCsilla Krausz

Abstract

The aetiopathogenesis of isolated cryptorchidism remains largely unknown. Mutation screenings in the most relevant candidate genes for testicular maldescent lead to controversial data in the literature. In particular, the role of the T222P genetic variant of the RXFP2 gene is still debated. Given the controversies, the aim of this study was to provide further data on this genetic variant in two Mediterranean populations. A total of 577 subjects from Spain and 550 from Italy (with and without a history of cryptorchidism) were analysed. The T222P substitution was found in both unilateral and bilateral cases and in a total of 12 controls. These data exclude a clear-cut cause-effect relationship between T222P variant and testicular maldescent. The T222P variant was found at a similar frequency in both cases and controls in the Spanish population, whereas in Italy, the frequency of T222P resulted significantly higher in the cryptorchid group (p = 0.031). The observed difference between the two countries and the highly variable phenotypic expression of the T222P variant may depend on the genetic background or on environmental conditions. The haplotype analysis of the RXFP2 gene in T222P carriers and their parents showed that this var...Continue Reading

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Citations

May 3, 2014·Annales d'endocrinologie·Jorma ToppariHelena E Virtanen
Dec 1, 2011·Molecular and Cellular Endocrinology·Helena E Virtanen, Annika Adamsson
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Jun 28, 2017·Nature Reviews. Urology·Jason K GurneyDiana Sarfati
Jun 7, 2019·Journal of Medical Genetics·Katie AyersAndrew Sinclair
Jun 3, 2021·International Journal of Urology : Official Journal of the Japanese Urological Association·Takahiko Mitsui

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