Preliminary data suggest that mutations in the CgRP pathway are not involved in human sporadic cryptorchidism.
J Endocrinol Invest
; 27(8): 760-4, 2004 Sep.
Article
en En
| MEDLINE
| ID: mdl-15636430
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.
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Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Péptido Relacionado con Gen de Calcitonina
/
Criptorquidismo
/
Mutación
Tipo de estudio:
Prognostic_studies
Límite:
Adult
/
Humans
/
Male
Idioma:
En
Revista:
J Endocrinol Invest
Año:
2004
Tipo del documento:
Article
País de afiliación:
Italia