According to the National Organization for Rare Disorders (NORD), Swyer syndrome, which was first described by a London ...

Swyer Syndrome (also known as 46, XY gonadal dysgenesis with female somatic phenotype) occurs in people whose sex chromosomes match most biological males, but who not only appear female ...

Genetic testing can also highlight chromosomal conditions commonly associated with streak ovaries, such as Turner syndrome and Swyer syndrome. If a newborn presents with other symptoms of Turner ...

Journal References: Yen-Shan Chen, Joseph D. Racca, Michael A. Weiss. Tenuous Transcriptional Threshold of Human Sex Determination. I. SRY and Swyer Syndrome at the Edge of Ambiguity.Frontiers in ...

XY female children with differences in sexual differentiation due to Swyer Syndrome lack functional ovaries and are at risk for rare forms of early-onset gonadal cancer. Recognition of this ...