Scientists find clue to malformation

  DAVE HILL/Daily Bruin Senior Staff Graduate student
Saunders Ching works in the department of human
genetics, where a new discovery was made recently.

By Hemesh Patel
Daily Bruin Senior Staff

In a world where the gender line between men and women is rigid,
society often overlooks the existence of intersex individuals.

Researchers at UCLA have recently found one of the causes
leading to sexual ambiguity, a condition where physicians are
unable to determine the gender of a newborn child.

“Genital malformations are an unspoken yet frequent public
health problem,” said principal investigator of the study,
Dr. Eric Vilain in a statement. “Parents don’t speak of
it because they fear others will consider their children taboo or
shameful.”

Vilain, assistant professor of human genetics, is currently in
London for a conference focusing on sex determination.

The one-and-a-half year study found that the over-expression, or
over-production of Wnt-4, the sex gene on chromosome 1 that
converts an embryo from male to female, leads to sexual
ambiguity.

According to Saunders Ching, a second-year graduate student in
human genetics, 1 percent of the population suffers from a sexual
malformation.

These malformations range from an enlarged clitoris and
undescended testes to sexual ambiguity which affects one in 3,000
births.

“Sexual ambiguity describes when a baby is born (and) one
can’t tell by looking at its external genitalia whether
it’s a male of female,” said Brian Jordan, lead author
of the study.

“Mutations in any gene in the sexual determination pathway
can lead to full sex reversal,” Jordan added.

When physicians encounter a newborn who has ambiguous genitalia,
they are faced with the difficult decision of assigning its
gender.

“Its a rapid decision the physician has to make,”
said Emmanuele Delot, a post doctoral researcher in Vilain’s
laboratory.

Delot said studies such as these will help in the understanding
of the biology of sexual ambiguity.

“It opens up the way for therapeutic tools in the future,
where patients can eventually get tested for this particular
gene,” said Ching.

With knowledge of this gene, scientists can, in the near future,
find ways of accurately assigning sex through genetic tests.

“Traditionally in the past, everyone was transformed by
surgery into a female,” Ching said. “It’s easier
by surgery to construct female genitalia.”

Today, after a team of surgeons, geneticists, pediatricians and
parents assign the sex of a newborn, it is surgically transformed
into either a male or female.

But some intersex individuals, those who have both male and
female genitalia when they are born, have expressed that they would
have preferred not to be surgically altered.

“According to Cheryl Chase, executive director of the
Intersex Society of North America, a lot of people express a sense
of mutilation,” said Ronni Sanlo, director of the Lesbian,
Gay, Bisexual and Transgender Campus Resource Center.

Sanlo said falsely determining the gender of intersex newborns
will have a significant psychological impact on the child.

“They hope and pray by the time the child reaches puberty
that they made the right guess,” Sanlo said. “If they
made the wrong decision then the person would be walking around in
the wrong body.”

A 1966 case study involving two twin boys opened up debate on
questions asking if gender identity was innate.

The case involve two twin boys, one of which was castrated in a
circumcision accident. Dr. John Money of John Hopkins University
decided to raise the boy as a girl and give him female
hormones.

While Money claimed the boy easily adapted to becoming a girl, a
recent study revealed that the individual, who is now his thirties,
never assumed a female identity and wanted to continue life as a
male.

For some scientists, such as Jay Wilson, a second-year graduate
student in human genetics, the study opens up debate on the
philosophical aspects about why humans exist, calling this sort of
research, “a window to our past.”

“We’re programmed to die because after we reproduce,
we are evolutionary unnecessary,” Wilson said.

He said the entire human culture defines gender and sexuality
rigidly.

“If I were a parent of a child with ambiguous genitalia, I
would not allow my child to be surgically assigned,” Sanlo
said. “I would allow the child to become whoever he or she
would be.”

Researchers used mice in the study and are currently working on
developing a mouse that is sexually ambiguous to further study the
condition.

The results of the study are published in this month’s
issue of the American Journal of Human Genetics.