Preliminary data suggest that mutations in the CgRP pathway are not involved in human sporadic cryptorchidism

D. Zuccarello, E. Morini, S. Douzgou, A. Ferlin, A. Pizzuti, D. C. Salpietro, Carlo Foresta, B. Dallapiccola

Research output: Contribution to journalArticlepeer-review

Abstract

In testicular descent to the scrotum, a multistep process, many anatomical and hormonal factors play a role. Cryptorchidism occurs in about 1-2% of males and may cause secondary degeneration of the testes. Animal models have shown that abnormalities, in the calcitonin gene-related peptide (CgRP) activity, could be relevant in the pathogenesis of cryptorchidism. We performed a mutation screening by PCR exon amplification, single-strand conformation polymorphism (SSCP) and sequencing in four candidate genes, CgRPs (αCgRP, βCgRP), their receptor (CgRPR) and the receptor component protein (CgRP-RCP), in 90 selected cases of idiopathic unilateral or bilateral cryptorchidism. Mutation screening of the coding regions and intron-exon boundaries revealed some polymorphic variants but no pathogenic sequence changes. These preliminary data suggest that these genes are not major factors for cryptorchidism in humans.

Original languageEnglish
Pages (from-to)760-764
Number of pages5
JournalJournal of Endocrinological Investigation
Volume27
Issue number8
Publication statusPublished - Sep 2004

Keywords

  • Calcitonin
  • CgRP
  • Cryptorchidism
  • Male infertility

ASJC Scopus subject areas

  • Endocrinology

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