Scientists questioning sex changes

Cloacal exstrophy is the single most severe birth defect affecting children born today. Once considered a death sentence, this rare disease threatening one in 400,000 births, now has a 95percent survival rate for those without spina bifida and hydrocephalus.

Children with this disease face a myriad of complications from birth. They have a perforated anus which prevents waste from being eliminated and lower abdomen organs such as the bladder and intestines that are exposed outside of the abdomen.

Additionally 50 to 70 percent of those born with cloacal exstrophy have spina bifida. This debilitating condition prevents their spines from closing properly. In severe cases, the spinal cord protrudes through the back and may be covered by skin or a thin membrane.

These and the possibility of abnormal kidney development are all life-threatening conditions, which must be operated on within the first 12 hours of birth.

Another symptom present, which becomes more pronounced after infancy, is their mutilated genitalia. For genetic males this means the penis is only tiny nubs which are split in two. In genetic females a similar situation occurs in which the clitoris is split in two pieces.

Around five years of age, surgeons traditionally have repaired the clitoris in females, making it whole and ordinary-looking. Barring any complications from spina bifida or hydrocephalus, which is an abnormal build-up of cerebrospinal fluid in the brain and frequently occurs when spina bifida is present, females can lead normal, intellectual, sexually active lives. They can have traditional intercourse and give birth, the caveat being that they must deliver through caesarean section.

The early medical thinking regarding males was to gender-convert them into females and make their deformed penises into clitorises. Though both males and females with cloacal exstrophy have normal hormone levels for their respective sex, this gender reassignment was deemed psychologically necessary for males because they would never be fit for intercourse as adolescents or adults.

This gender-assignment of males is an intricate process that involves splitting open the pelvic bones to make a larger, more womanly pelvis among other surgeries.

Researchers John Gearhart and William Reiner from The Johns Hopkins University questioned the logic to reassign males as females. They presented a study of 16 males who had come back to Hopkins for follow-up evaluations or gender-reassignment surgeries in The New England Journal of Medicine.

"Many of the kids were unhappy in the female gender and gender-converted or wanted to gender-convert themselves back to males." said Gearhart.

In their study, two of the males had not undergone the gender reassignment surgery. Thus, among the fourteen patients gender-assigned as females, eight have made the switch back to become men. Gearhart's observations of the patients in this study, who were gender-converted to females in their early childhood, were that "they felt more masculine and wanted to do something about it."

Gearhart attributed much of the gender-conversion of males to females to a lack in the surgical techniques to make prosthetic penises for them when they went through this procedure years ago. He praises the reconstructive techniques which enable patients to have phalluses that are suitable for intercourse. Today, males who choose to remain males can reproduce, not through intercourse, but through fertilization of their semen which can be taken from their testes.

While there is no known cause for cloacal exstrophy, it is detectable in prenatal exams. Gearhart commented that while many women do choose to terminate their pregnancy as a result of the screenings, "a number of patients are still being seen at Hopkins," meaning that even with the advances in modern medicine, this birth defect is still problematic.

Preliminary findings have shown that an increase in babies born with cloacal exstrophy has occurred in women who underwent invitro pregnancies. Although, he cautions this is not at all conclusive and the literature has consistently stated that there is no known cause, genetic or otherwise, for this defect.