Background To review the possible mechanisms proposed to explain the etiology of 46, XX
sex reversal by investigating the clinical characteristics and their relationships with …

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 …

Purpose To investigate the clinical characteristics of different categories of sex-reversed 46,
XX individuals and their relationships with chromosomal karyotype and the SRY gene …

Objective To present clinical, chromosomal and hormonal features of ten cases with SRY-
positive 46, XX testicular disorder of sex development who were admitted to our infertility …

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 …

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 …

SRY (sex-determining region Y) gene, MIM 480000, NM_005634) is crucial for sex
differentiation which encodes the protein responsible for initiating testis differentiation. SRY …

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 …

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 …

OBJECTIVE: To report a case of a 46, XX SRY-negative man with a male phenotype and
azoospermia. DESIGN: Case report. SETTING: Molecular and Cytogenetic Unit in a …