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 …

The main factor influencing sex determination of an embryo is the sex-determining region Y
(SRY), a master regulatory gene located on the Y chromosome. The presence of SRY …

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 …

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 …

46, XY partial gonadal dysgenesis is a rare condition characterized by a varying degree of
testicular dysgenesis, ambiguous genitalia, and usually absence of regression of Müllerian …

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 …

ABSTRACT A rare case of a female patient with a 47, XYY karyotype is described. She had
normal female external genitalia, bilateral testes, rudimentary Fallopian tubes and no uterus …

Stoppa‐Vaucher S, Ayabe T, Paquette J, Patey N, Francoeur D, Vuissoz J‐M, Deladoëy J,
Samuels ME, Ogata T, Deal CL. 46, XY gonadal dysgenesis: new SRY point mutation in two …

Abstract 46, XY complete gonadal dysgenesis (Swyer syndrome) is a rare cause of disorder
of sexual development. This syndrome is caused by a defect in the determination of sex …

Objective: We report a male patient with ovotesticular disorder of sex development (OTDSD),
resulting from structurally abnormal Y chromosome. Case report: A 3-year-old boy was …