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9 September 2002
Ambiguous Genitalia Babies Mostly Happy With Gender Assignment
by George Atkinson

Researchers at Johns Hopkins Children's Center report that adults born with ambiguous genitalia - or malformations that make it difficult to determine sex of rearing - were generally content with the gender assigned to them at birth by their parents and doctors. A companion study showed that almost half of adult intersex patients knew little about their condition, and would like to know more. The studies, which appear in the online version of the September issue of Pediatrics, could help families and doctors make better therapeutic and counseling decisions about gender assignment, says lead researcher Claude Migeon, M.D., a pediatric endocrinologist at Johns Hopkins Children's Center.

Migeon and his colleagues recruited their study subjects from the archives of the pediatric endocrinology clinic at Johns Hopkins, where their subspecialty was founded in the mid-1940s. Because many of the clinic's patients have reached adulthood, researchers are now able to gauge the outcome of gender assignment choices made decades ago among what may be the world's largest cohort of intersex patients. Researchers judged success or of gender assignment on a variety of psychological, physical and sociological factors.

In the first study, researchers interviewed, reviewed the history of and examined 39 people 21 years of age or older seen at Hopkins as infants or children with genital ambiguity. The patients all had a genetically male, XY genotype and a genetic intersex syndrome that causes the abnormal formation of an extremely small phallus, with the urethral opening on the underside, where it would be located on a female.

Although historically there has been controversy over which is the best gender assignment for these children, they are often assigned to female gender by parents and doctors, undergoing surgeries and hormone treatments, to be reared as girls.

Of the 39 participants in this study, 21 were raised as males and 18 as females. The majority of men (76 percent) and women (78 percent) were satisfied with their assigned sex of rearing. Two patients changed gender in adulthood. Most subjects were satisfied with their body image, sexual functioning with a partner and sexual orientation, and considered themselves appropriately masculine or feminine.

"These and earlier studies here suggest that gender assignment should be based on the type of intersex condition and a thorough discussion of the risks and benefits of treatment," Migeon says. The team's previous studies showed that XY individuals born with normal-appearing female genitalia are more successfully raised as females, and those born with micropenis are better raised as males. "For those born with ambiguous genitalia, it is most important for families to consult closely with pediatric endocrinologists, urologists and counselors to consider many variables, including complications and outcomes of genital reconstruction, the need for long-term sex hormone replacement, and the desire for fertility," Migeon says.

Results of the second study, which examined intersex patients' knowledge of their condition, suggest that patients are not receiving the close counseling with medical professionals which the first paper finds important.

Seventy-five adult patients, also recruited from the historical files of the pediatric endocrinology clinic at Johns Hopkins, participated in the study. All had the XY genotype and an intersex syndrome. The 34 males and 41 females were asked specific questions to determine their knowledge about their condition, whether they were satisfied with their level of understanding, and whether they wanted more information.

Fifty-three percent of men, and 54 percent of women had a good understanding of their condition. More women (66 percent) than men (38 percent) were satisfied with their knowledge. In both groups, those who were satisfied had a good understanding of their condition. Less than half of the participants, regardless of gender, expressed interest in receiving more information.

"If we ran this study again in 50 years, we hope none of the participants would report a lack of understanding of their condition," says researcher Amy Wisniewski, Ph.D, of the Children's Center. "Better knowledge of these conditions will lead to better treatment."

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