11:07 08 December 2010 by Wendy Zukerman
" An altered gene which causes male embryos to develop female genitalia, has been identified in humans.
The discovery will lead to a faster and more accurate diagnosis of sex development disorders, says Andrew Sinclair at the Murdoch Children's Research Institute, Australia.
One in 4500 babies have gene mutations which mean their testes or ovaries do not develop properly in the womb. This can lead to ambiguous genitalia and a physical appearance which doesn't match their sex chromosomes. For example, "They may appear female even though they have male XY chromosomes," says Sinclair.
Girls with the disorder may not develop breasts, and can have excessive hair and an enlarged clitoris. This spectrum of conditions is known as disorders of sex development (DSD). DSD can lead to emotional stress, infertility and an increased risk of cancer.
Sinclair and Harry Ostrer from New York University, compared the genes of 16 people from two families, who were affected by a particular type of DSD where male XY embryos develop female characteristics, including female genitalia and a feminine appearance. . . " Read More
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