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Copyright 2002 The Dallas Morning News
The Dallas Morning News
March 11, 2002, Monday SECOND EDITION

SECTION: TEXAS LIVING; Pg. 1C

LENGTH: 1673 words

HEADLINE: Identity crisis;
Rare genital anomalies in infants pose difficult questions for parents, doctors

SOURCE: Staff Writer

BYLINE: SHERRY JACOBSON

BODY:
Is it a boy or a girl?

Sometimes one simple question about a newborn baby can be answered only with heart-breaking uncertainty.

Genital anomalies at birth - also called genital birth defects - force parents to push aside the blue and pink bunting. Instead of the traditional festivities that accompany birth, there is a gut-wrenching period of days or weeks when a baby cannot be named because the question of gender cannot be answered.

In some cases, babies are born with a micropenis (smaller than an inch). Some such babies are actually female. Other cases involve girls who have an oversized clitoris. While their gender is not a mystery, some may not have internal reproductive organs. "Typically, we see six to 12 local cases of genital birth defects per year with a variety of underlying causes," says Dr. Grace M. Tannin, assistant professor of pediatrics at the University of Texas Southwestern Medical Center at Dallas and a specialist in endocrinology. "We view this sometimes as a medically and psychologically urgent situation."

Every year, about 2,000 infants are born with genital birth defects in the United States. The figure is an estimate because there is no national registry of such newborns.

Many states are paying attention to one kind of genital birth defect, congenital adrenal hyperplasia or CAH, which affects about 330 babies in the United States each year, causing some females to develop penislike genitals and males to undergo precocious puberty.

In 1989, Texas became the third state to require genetic testing for the disorder in all newborns. In the first six years, the state tested 1.9 million babies and found that 175 were positive.

Identifying these infants was important, state officials said at the time, because CAH babies often cannot maintain a correct balance of sodium in their bodies, resulting in a condition called salt wasting. They could die within weeks without treatment with corticosteroids.

Nine diseases are known to cause genital birth defects. Some have been studied extensively, such as CAH, while others have not. But a surge in new studies is being offset by the reluctance of some researchers to draw attention to these conditions. It is not unusual for doctors to decline to be interviewed about their findings.

"We don't trust the media not to sensationalize this subject," offers one researcher who refused to be quoted about his field of study. "It's very sensitive to everyone involved."
There is no denying that these births trigger an immediate crisis for a family.

"It's as bad as any other congenital problem," says Dr. Richard Auchus, assistant professor of internal medicine at UT Southwestern. "It's emotionally traumatic and it can be devastating for the family, depending on their ethnic and religious background."

The staffs in most delivery rooms are trained not to overreact at the sight of malformed genitals. To avoid causing the parents additional anxiety when a baby's gender is not obvious, all references are made simply to the baby. Personnel are cautioned to never call a baby it.

These rare birth defects also represent a unique challenge for the doctors who must advise the family on what to do.
First, tests must identify the reproductive organs the baby has been born with, both internal and external, and the baby must undergo screening to determine the presence of male or female chromosomes. Then, the doctors turn to the growing body of research that explains many of these genital anomalies and sometimes can predict how patients are likely to fare with certain treatments. Finally, a recommendation is made to the parents on the baby's sex, including the necessary treatments and possible surgery for cosmetic or medical purposes.

"The whole thing is very complex," says Dr. Tannin, who has consulted on a number of such cases. "We try to use a team approach that brings together urology, gynecology, genetics, endocrinology and pastoral care for the family."

A few doctors advocate assigning a gender to a child shortly after birth but avoiding any surgery that makes it irreversible, says Dr. Gerald Melchiode, clinical professor of psychiatry at UT Southwestern and chairman of the Dallas Foundation of Psychoanalysis.

"But what might it be like growing up that way, and how will the peers treat that child?" he asks. "You have to provide counseling for those parents and children."

In the past, gender-ambiguous babies were not viewed as such complicated problems.

For decades, doctors believed that babies were gender-neutral at birth and that those born with genital abnormalities could simply have them corrected by surgery. Boys born with exceptionally small penises, for example, usually were turned into girls. Females born with an enlarged clitoris had it surgically reduced with little consideration given to their future sexual pleasure.

"Our understanding has come a long way since then," Dr. Auchus says. "We now know what happens when we assign a gender to someone and it's the wrong one."

The best-documented case of mistaken gender identity did not involve a genital birth defect, however. It involved a baby boy whose penis was destroyed during a botched circumcision in 1967. He was subsequently raised as a girl.

Although the case was heralded as proof that boys could be raised as girls, it was later revealed that the "girl" began living as a boy at age 14 and has since married a woman. John Colapinto's 2000 book about the case, As Nature Made Him, documented the failed attempt at gender transfer.

Milton Diamond, a professor of anatomy and reproductive biology at the University of Hawaii, helped blow the whistle on that case in 1997. Subsequently, Dr. Diamond has questioned the way doctors make gender assignments. In particular, he criticizes the lack of follow-up on patients to determine whether gender-related treatments were successful. He urges scientists to consider how these patients' lives turned out.

"It's crazy and it's not good medicine to not know if what you've done is correct," he maintains.

A study last year in the British medical journal Lancet reported on 44 patients who had ambiguous genitalia in childhood and underwent feminizing genital surgery as adolescents. It found that 59 percent felt the cosmetic results were good or satisfactory and 41 percent called the outcome poor. The study did not ask about their sexual satisfaction.

Another study last year in the journal Hormone Research attempted to follow up on 45 individuals born with a micropenis, but only 13 of the men and five of the women eventually participated.

Six of the men reported satisfactory sexual functioning after they underwent hormone therapy. Of the women, three rated their libido as average and two said they had no sexual urges after undergoing surgery and hormone treatments.

Individual doctors do try to keep track of these patients, says Dr. David Ewalt, a Dallas pediatric urologist who has done genital reconstructive surgery on infants.

But too often their parents simply want to get the problem fixed and get on with their lives, he says. "They don't want their children to be thought of as freaks."

Dr. Susan Bradshaw, assistant professor of internal medicine in endocrinology and metabolism at UT Southwestern, believes it is rare for doctors to assign the wrong gender to a baby. But it's not an easy task.

"It's almost always the case that you can come up with a gender recommendation. Sometimes it's based on solid evidence and sometimes it's not," she says. "You really don't know what's going to happen. And, they may never come back."
E-mail sjacobson@dallasnews.com

9 diseases that cause genital birth defects
Androgen insensitivity syndrome, or AIS, occurs when a genetic male lacks sensitivity to testosterone and develops the external anatomy of a female but without an internal reproductive tract.

Partial AIS allows both male and female organs to develop. Such a male will go through normal puberty if the testes are not removed.

Cloacal exstrophy is a severe congenital malformation of the pelvis. In males, it can cause the lack of a penis. Females may have no opening to the vagina or a smaller-than-normal vagina.

Congenital adrenal hyperplasia, or CAH, is a genetic error in the adrenal glands that can cause females to have both male and female genitalia at birth and males to experience early puberty. Females may also have an oversized clitoris. (The normal range at birth is 0.33 inch to 0.8 inch.) Also causes an inability to maintain sodium levels in the body.

Gonadal intersex syndrome, or true hermaphrodite syndrome, is an exceptionally rare condition causing the development of both ovarian and testicular tissue. Anomalies of the reproductive tracts and genitals vary.

Hypospadias is a condition in males in which the opening to the urethra is located on the underside or the base of the penis. It represents incomplete male differentiation. Surgery may correct it.

Kallmann's syndrome, also known as isolated gonadotropin deficiency, can affect boys, causing a micropenis, undescended testes and delayed puberty. The normal penis length at birth is 0.98 inch to 1.7 inches.

Klinefelter's syndrome occurs in genetic males who have one or more extra X chromosomes. They develop as anatomical males but with small testes, enlarged breasts and decreased or absent sperm production.

Mayer-Rokitansky-Kustur-Hauser syndrome, or vaginal agenesis, is the failure of the female organs to develop. The vagina and uterus may be shorter than usual or missing, but the ovaries are usually normal. Sometimes, there may be one kidney instead of two. External genitals appear normal.

Turner's syndrome is a chromosomal abnormality that occurs when an individual has only one X chromosome, instead of XX or XY. Although female in appearance, the ovaries degenerate during fetal development. Girls will need hormones to go through puberty.
SOURCE: Dallas Morning News research



GRAPHIC: ILLUSTRATION(S): (Staff graphic) Ustration of young babies. CHART(S): (Staff Graphic) NORMAL SEX DEVELOPMENT

__________________
Until you've lost your reputation, you never realize what a burden it was or what freedom really is. --Margaret Mitchell

Interesting although they incorrectly state that CAH females have both male and female genitalia.

I have to admit that I read the article and then only gave the definitions a cursory glance... my bad.

But it goes to show how little is known about CAH and how much educating we--as the only true experts--have to do. I wonder if the reporter got the information from a physician. Having heard more than one describe little girls with an enlarged clitoris as having "gross genitalia", it wouldn't surprise me one bit.