Mixed gonadal dysgenesis in 45,X Turner syndrome with SRY gene
Annals of Pediatric Endocrinology & Metabolism
; : 226-229, 2015.
Article
em En
| WPRIM
| ID: wpr-96136
Biblioteca responsável:
WPRO
ABSTRACT
Turner syndrome is the most common chromosomal disorder in girls. Various phenotypic features show depending upon karyotype from normal female through ambiguous genitalia to male. Usually, Turner girls containing 45,X/46,XY mosaicism, or sex-determining region Y (SRY) gene may have mixed gonadal dysgenesis with various external sexual differentiation. We experienced a short statured 45,X Turner girl with normal external genitalia. Because SRY gene was positive, laparoscopic gonadectomy was performed. The dysgenetic gonads revealed bilateral ovotesticular tissues. The authors report a mixed gonadal dysgenesis case found in clinical 45,X Turner patient with positive SRY gene. Screening for SRY gene should be done even the karyotype is 45,X monosomy and external genitalia is normal.
Palavras-chave
Texto completo:
1
Base de dados:
WPRIM
Assunto principal:
Diferenciação Sexual
/
Transtornos do Desenvolvimento Sexual
/
Síndrome de Turner
/
Programas de Rastreamento
/
Transtornos Cromossômicos
/
Genes sry
/
Cariótipo
/
Genitália
/
Disgenesia Gonadal Mista
/
Gônadas
Tipo de estudo:
Screening_studies
Limite:
Female
/
Humans
/
Male
Idioma:
En
Revista:
Annals of Pediatric Endocrinology & Metabolism
Ano de publicação:
2015
Tipo de documento:
Article