In several syndromes genetic males lack gonadal tissue. A range of phenotypes are seen,
which varies from complete female external genitalia to anorchic subjects with sexual …

XY gonadal dysgenesis can be classified as either complete or incomplete according to
gonadal morphology. The disease is a sex-reversal disorder resulting from embryonic …

Male sexual differentiation involves a cascade of events initiated by the presence on the Y
chromosome of the SRY gene, which causes the indifferent gonad to develop into a testis …

Clinical findings illustrate the wide spectrum of the phenotypic manifestations of 45, X/46, XY
mosaicism in the sex chromosome disorders of sex differentiation (DSD). The objective of …

In humans, sexual differentiation is directed by SRY, a master regulatory gene located at the
Y chromosome. This gene initiates the male pathway or represses the female pathway by …

46, XY pure gonadal dysgenesis, first described in 1955 by Swyer, results from testicular
tissue loss during the first 8 weeks of fetal life, a critical period for male differentiation. We …

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 …

Men who appear normal and live a normal life, may have a 46, XX karyotype andpresent
with the typical features of infertility and end organ (testicular) failure. They are azoospermic …

An individual's sexual phenotype is usually determined by the presence or absence of the Y
chromosome in the embryo's karyotype, however, due to abnormal X/Y terminal exchange …

Chromosomal sex is normally determined at fertilization. The zygote has either an XX or an
XY chromosome constitution that is maintained by mitosis in all cell types as the embryo …