… The mode of inheritance and recurrence risk to sibs of a proband with a nonsyndromic 46,XX
testicular disorder/difference of sex development (DSD) depend on the molecular …

… ,XY and 45,X/46,XY testicular dysgenesis, who were recruited according to strict inclusion …
this study was to analyze the clinical picture of patients with genital ambiguity due to testicular …

… sex determination and sex differentiation are briefly analyzed, exposing the pathophysiological
and clinical classification of disorders or anomalies of sex development. Anomalies in …

… His discordance between phenotype and karyotype and the absence of SRY gene
confirmed his diagnosis of 46 XX testicular syndrome. Ovo testicular variant of 46 XX DSD was …

… and management of disorders of sex development. Birth … Global disorders of sex development
update since 2006: … 46, XX testicular disorder of sexual development with SRY-negative …

… the study was to perform cytogenetic and molecular characterization of a group of patients
with ovotesticular syndrome … of sexual development disorders in patients who are XX or XY in …

… and medical advice to be given to patients and their families. In this study, we present the
cytogenetic and molecular … The genetic analyses included karyotyping, FISH for SRY, and …

… Molecular analysis was not performed to confirm our impression that these cases might be
false-positive 46,XX testicular … In addition, the nature of retrospective observational study …

… 46,XX testicular disorder of sex development (46,XX TDSD) is a relatively rare condition
characterised by the presence of testicular tissue with 46,XX karyotype. The present study aims …

… of testis. Initially reported by de la Chapelle in 1964, 46, XX testicular disorder of sexual
development (DSD) is characterized by a male phenotype despite a 46, XX karyotype (de la …