We describe a new point mutation in the SRY gene of a Chinese XY female with gonadal
dysgenesis (Swyer syndrome). Using the double stranded DNA cycle sequencing method, a …

The main factor influencing the sex determination of an embryo is the genetic sex
determined by the presence or absence of the Y chromosome. However, some individuals …

Background An ovotesticular disorder of sex development (OT-DSD) was rarely found in
human. The mechanism causing such condition is poorly understood. We hereby reported a …

Sex reversal syndrome is a kind of human genetic disease about gender dysplasia, which is
characterised by inconsistency between gonadal sexuality and chromosome sexuality; the …

PURPOSE: The mammalian sex determining gene, sex region Y chromosome (SRY), is now
firmly established as the testis determining locus. The SRY is close to the short arm Y …

Abstract Background Forty-six, XY Differences/Disorders of Sex Development (DSD) are
characterized by a broad phenotypic spectrum ranging from typical female to male with …

The Y chromosome located gene SRY (sex determining region Y gene) was identified in the
search for the mammalian testis determining factor (TDF). Approaches for evaluating SRY as …

Disorders of sex development (DSD) include a heterogeneous group of heritable disorders
of sex determination and differentiation. This includes chromosomal as well as monogenic …

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

Disorders of sex development (DSD) may present in the newborn period with atypical
genitalia but may also be diagnosed later in childhood or adolescence; they may require …