Molecular genetics of hypospadias and cryptorchidism recent developments.
Clin Genet
; 95(1): 122-131, 2019 01.
Article
em En
| MEDLINE
| ID: mdl-30084162
ABSTRACT
During the last decade, a tremendous amount of work has been devoted to the study of the molecular genetics of isolated hypospadias and cryptorchidism, two minor forms of disorders of sex development (DSD). Beyond the genes involved in gonadal determination and sex differentiation, including those underlying androgen biosynthesis and signaling, new genes have been identified through genome-wide association study and familial clustering. Even if no single genetic defect can explain the whole spectrum of DSD, these recent studies reinforce the strong role of the genetic background in the occurrence of these defects. The timing of signaling disruption may explain the different phenotypes.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Criptorquidismo
/
Hipospadia
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Androgênios
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Biologia Molecular
Limite:
Humans
/
Male
Idioma:
En
Revista:
Clin Genet
Ano de publicação:
2019
Tipo de documento:
Article
País de afiliação:
França