Testicular feminisation syndrome presenting in the newborn.
Testicular feminisation syndrome in a neonate was confirmed by cytogenetic studies. Karyotype analysis in 2 phenotypically female siblings showed the presence of the disorder in the 2 year old sibling. Subsequently a fourth phenotypically female sibling showed the disorder.
D013734:Androgen-Insensitivity Syndrome / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male