Disorders of sex development are defined as congenital conditions with discordance between the phenotype, the genotype, the karyotype, and the hormonal profile. The disorders of sex development ...

Panel A shows the internal structures of a 46,XY patient with pure gonadal dysgenesis. There are bilateral streak gonads with retained müllerian structures, fallopian tubes, and a midline uterus.

XY pure gonadal dysgenesis has been found in three phenotypic females in three different sibships in the same family. The proposita, a maternal cousin and a maternal aunt are similarly affected. They ...

Early in human development, during the first trimester of gestation, a fetus may have XX or XY chromosomes that indicate its sex. Yet at this stage a mass of cells known as the bipotential gonad that ...