"Our chromosomes don't tell us who we are," said Dr. Arlene Baratz, a Pittsburgh breast radiologist who has two intersex daughters. "We expect XX is pink and a girl and XY is blue and a boy, but we know from children with gender identity conditions that is not always the case, even when their bodies are perfectly typical."
"Today, we anticipate how the child will feel as an adult and what they feel inside," said Baratz. "That is called gender identity and the gender role is how we live in society as a man or a woman. So gender assignment is aimed at putting gender identity and role in sync with each other as the child grows older."
Baratz's daughter Katie was born with male chromosomes, but has a DSD called complete androgen insensitivity syndrome (cAIS). Because her androgen receptors are faulty, Katie developed female characteristics.
She has a vagina, but no uterus or ovaries. When she was 6, doctors discovered small testes in a hernia sac.
Today, at 26, Katie is married and in medical school hoping to one day be a child psychiatrist. Though she is infertile, she hopes to become a parent through adoption or gestational surrogacy.
"These girls look completely female and they are girls," said her mother. When these cAIS babies are gender assigned as female, 99 percent of them go on to feel like women when they grow up.
But in a similar disorder, partial androgen insensitivity syndrome (pAIS), doctors can't always be sure. Because they have been affected by some androgen, about 50 percent of them do not accept the gender that is assigned to them.
Baratz, who works with advocacy groups like the Accord Alliance pushes for more support for parents and children dealing with intersexuality.
"They are made to feel ashamed," she said. "It would be good for families if someone said there may be an issue, but there is support for this. They are made to feel, even by the medical community, as something shameful."
"A lot of urologists argue strongly for surgery," she said. "There is a place for waiting and allowing children to have some voice in the decision and wait for long term effects or until something better is available. It's important to talk to them about what we don't know."
Stanford University has set up a multidisciplinary committee to explore these ethical issues and hopes soon to launch a DSD clinic.
Dr. Hsi-Yang Wu, a pediatric urologist at Stanford, said he sees a case of intersex about "once or twice a year," but endocrinologists may consult with two or three families a month.
"The surgical approach has become much more nuanced in terms of who needs surgery," said Wu. "Early on, we assumed all children with DSD got surgery. But things have changed."
The spring issue of Stanford Medicine magazine describes a baby with a potentially life-threatening form of the endocrine disorder, congenital adrenal hyperplasia.
Born with XX female chromosomes, the baby had ovaries, a uterus and fallopian tubes, a clitoris that looked more like a penis and partially fused labia.
The condition accounts for about 60 percent of all DSDs. The adrenal glands lack an enzyme to make the hormones cortisol and aldosterone, and so the girls' bodies create more androgen.
As a result, their genitals, and some say their brains, are masculinized and they must take daily hormone medication to stay alive.