We report a case of a fetus with 46, XX testicular disorder of sex development detected
prenatally. This fetus was found abnormally due to non‐invasive prenatal testing …

Prenatal diagnosis of disorder of sex development (DSD) is very rare and is estimated to
occur in 1/2500 pregnancies. A group of DSDs are the 46, XX testicular DSD. Today, the …

The routine prenatal diagnosis includes a standard cytogenetic study and a careful
evaluation of the fetus by one or more ultrasonographic scans. Usually there is a full …

We report a new case of 46, XX male syndrome that was detected following an anomalous
result by non‐invasive prenatal testing (NIPT) and a discrepancy between the fetal …

Background: Sex reversal syndrome (SRS) is a human chromosomal abnormality disease
with gender dysplasia, which is characterized by inconsistency between social sexuality and …

Ultrasonography can accurately determine phenotypic sex differences from those of the
genetic sex. Two cases were identified; they were the result of a translocation of the SRY …

Purpose: To identify the clinical characteristics of SRY-negative male patients and genes
related to male sex reversal, we performed a retrospective study using cases of 46, XX …

Individuals with male phenotypes and 46 XX karyotype appear in about 1 of 20,000 births
with clinical features varying from normal male appearance to sexual ambiguity and …

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 …

The antenatal detection of a 45, X male fetus has been identified in only a select number of
cases. We report the antenatal identification of a 45, X male fetus detected by amniocentesis …