Context: Differentiation of testicular tissue in 46, XX individuals is seen either in XX males,
the majority of them with SRY gene, or in individuals, usually SRY (−), with ovotesticular …

It is well established that testicular differentiation of the human embryonic gonad depends
on the action of the Y-chromosomal gene SRY. However, exceptional cases such as SRY …

Background 46, XX testicular disorder of sex development is a rare genetic syndrome,
characterized by a complete or partial mismatch between genetic sex and phenotypic sex …

Background: Translocation of the SRY gene to the paternal X chromosome is the
explanation for testis development in the majority of subjects with 46, XX testicular disorder …

XX maleness is a rare syndrome with a frequency of 1 in 20 000–25 000 males. XX males
exist in different clinical categories with ambiguous genitalia or partially to fully mature male …

The 46, XX testicular disorder of sex development (DSD), also known as 46, XX male
syndrome, is a rare form of DSD and clinical phenotype shows complete sex reversal from …

The 46, XX ovotesticular disorder of sex development (DSD) is rarely observed in humans.
This disorder is generally described as ambiguous genitalia with the presence of ovarian …

The main factor influencing sex determination of an embryo is the sex-determining region Y
(SRY), a master regulatory gene located on the Y chromosome. The presence of SRY …

The 46, XX male disorder of sex development (DSD) is rarely observed in humans. Patients
with DSD are all male with testicular tissue differentiation. The mechanism of sex …

The 46, XX testicular disorder of sex development (46, XX testicular DSD) is a rare
phenotype associated with disorder of the sex chromosomes. We describe the clinical …