Background SRY (sex-determining region, Y) is the gene responsible of gonadal
differentiation in the male and it is essential for the regular development of male genitalia …

A disorder of sex development (abbreviated DSD) is defined as a congenital condition in
which development of chromosomal, gonadal or anatomical sex is atypical. DSD is caused …

Background: In most mammals, sex is determined at the beginning of gestation by the
constitution of the sex chromosomes, XY in males and XX in females. Case: Here we report …

Ambiguous genitalia or disorder of the sexual development is a birth defect where the
external genitals do not have the typical appearance of either a male or female. Here we …

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 …

Among the structural abnormalities affecting the human Y chromosome, dicentric
chromosomes are the most common. A wide spectrum of phenotypes of patients with a …

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 sex-determining region on the Y chromosome (SRY) gene guides male sexual
development. However, individuals with sex reversal syndrome (46, XX males and 46, XX …

Here we present a male newborn with multiple congenital anomalies who also has an
extremely rare form of testicular disorder of sex development (DSD). His karyotype was 45X …

Background Generally, the translocation of SRY onto one of the X chromosomes leads to 46,
XX testicular disorders of sex development, a relatively rare condition characterized by the …