[SRY gene-testing in the diagnosis of disorders of sex development among children].
Zhongguo Dang Dai Er Ke Za Zhi
; 15(7): 555-8, 2013 Jul.
Article
em Zh
| MEDLINE
| ID: mdl-23866278
ABSTRACT
OBJECTIVE:
To investigate the value of direct sequencing of sex-determining region Y (SRY) gene, as well as peripheral blood karyotype analysis, in the diagnosis of disorders of sex development (DSD) among children and adolescents with ambiguous genitalia.METHODS:
The karyotypes of 20 children and adolescents with ambiguous genitalia were determined by conventional G-banding analysis. PCR amplification was used to detect SRY gene in these patients, and direct sequencing was used to judge whether there was SRY gene mutation.RESULTS:
Of the 20 cases, 17 were positive for SRY gene, and 3 were negative for SRY gene. Direct sequencing revealed no SRY gene mutation in the positive cases, however karyotype analysis found 4 special karyotypes in these patients 46, XY, del(Y) (q12)/45, X; 46, XY, add(Y) (p11); 46, XY, r(9); 46, XY, 9qh+.CONCLUSIONS:
SRY gene detection can help determine the type of DSD among children and has the advantage of quick detection. Used together with G-banding analysis, it is helpful for primary diagnosis of DSD among children.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Transtornos do Desenvolvimento Sexual
/
Proteína da Região Y Determinante do Sexo
Tipo de estudo:
Diagnostic_studies
Limite:
Adolescent
/
Child
/
Child, preschool
/
Humans
/
Infant
/
Newborn
Idioma:
Zh
Ano de publicação:
2013
Tipo de documento:
Article