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

J Endocrinol Invest. 2004 Sep;27(8):760-4. doi: 10.1007/BF03347519.

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 (alphaCgRP, betaCgRP), 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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Calcitonin Gene-Related Peptide / genetics*
  • Cryptorchidism / genetics*
  • Exons / genetics
  • Gene Frequency
  • Genetic Testing
  • Humans
  • Immunohistochemistry
  • Introns / genetics
  • Male
  • Mutation / physiology*
  • RNA Probes
  • Reverse Transcriptase Polymerase Chain Reaction

Substances

  • RNA Probes
  • Calcitonin Gene-Related Peptide