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

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.

journal_name

J Endocrinol Invest

authors

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

doi

10.1007/BF03347519

keywords:

subject

Has Abstract

pub_date

2004-09-01 00:00:00

pages

760-4

issue

8

eissn

0391-4097

issn

1720-8386

pii

5236

journal_volume

27

pub_type

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