Mixed gonadal dysgenesis in 45,X Turner syndrome with SRY gene
Annals of Pediatric Endocrinology & Metabolism
;
: 226-229, 2015.
Article
in English
| WPRIM
| ID: wpr-96136
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Sex Differentiation
/
Disorders of Sex Development
/
Turner Syndrome
/
Mass Screening
/
Chromosome Disorders
/
Genes, sry
/
Karyotype
/
Genitalia
/
Gonadal Dysgenesis, Mixed
/
Gonads
Type of study:
Screening study
Limits:
Female
/
Humans
/
Male
Language:
English
Journal:
Annals of Pediatric Endocrinology & Metabolism
Year:
2015
Type:
Article
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