Symbol
| XXTD
|
Location
| Yp11
|
Name
|
XX gonadal dysgenesis, SRY- positive |
Other name(s)
|
46,XX testicular disorder of sex development,
46,XX testicular DSD
XX male syndrome, SRY positive |
Corresponding gene
|
SRY
|
Other symbol(s)
| XXDSD
|
Main clinical features
|
46,XX karyotype
male external genitalia normal in most cases, two testicles, no mullerian structure
at puberty small testis, gynecomastia, azoospermia
hypergonadotropic hypogonadism, testosterone deficiency if untreated |
Genetic determination
| chromosomal |
Related entries
| SOX9, RSPO1
|
Function/system disorder
| sex-genitalia |
Type
| malformation
|