Gender identity and assignment issues spark debate

Washington--For children with ambiguous genitalia at birth, surgical techniques have improved vastly, but deciding when and whether to do surgery hasn't gotten easier. That was apparent from the lively and sometimes contentious panel and audience discussion here at the American Academy of Pediatrics Section on Urology annual meeting.

These debates started in 1997 when Milton Diamond, PhD, and Keith Sigmundson, MD, described the famous John/Joan case (Arch Pediatr Adolesc Med 1997; 151:298-304), which apparently sank Johns Hopkins researcher John Money, PhD's theory that children are psychosexually neutral early in life and can be socialized to one sex until about 18 months of age. Dr. Diamond and his associates called for a moratorium on sex reassignment surgery.

With late gestation treatment alone, the genitals were not masculinized. Behaviorally, however, these juvenile females were indistinguishable from males. Subsequent work in Dr. Wallen's laboratory found that blocking endogenous androgens in genetic males early in gestation blocked genital masculinization, but they still showed masculine behavior.

"The important point is that, because of the different timing of the effects, genital sex and brain sex can diverge significantly," Dr. Wallen said. "I'm glad I'm not a clinician because it's very difficult to know, given the genital anatomy, what the behavioral prognosis is for individuals as they grow up."

The more severe, less common form of CAH also results in impaired aldosterone production and more severe virilization. The condition is treated with cortisol, which suppresses pituitary production of ACTH and, therefore, overproduction of androgen substrate.

Typically, feminizing genitoplasty is done in infancy except for the most severely virilized infants. Now, however, CAH can be treated prenatally in at-risk pregnancies, obviating genitoplasty after birth. A woman with an at-risk pregnancy is given dexamethasone until chorionic villus sampling can be done for genetic testing. If the fetus is female and does have CAH, the treatment is continued.

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