When Gender Is In Doubt, What Then?

When Gender Is In Doubt, What Then?

 

Opinions vary on how to approach sex-assignment surgery for disorders of sex development

 

SHOULD CHILDREN with disorders of sex development (DSD) —in which genitalia, chromosomes, or reproductive systems diverge from what is considered the norm for females or males—have reconstructive surgery before they are old enough to make their own decisions? Few questions in medicine evoke a more emotional and divided response. It is a question that may be asked more often than you might think. An estimated one in 2,000 babies is born with anomalous genitals that may include an enlarged clitoris, a tiny penis, or labia fused into a scrotum-like sac.

 

One view is that performing genital surgery during infancy is preferable because it is less emotionally traumatic when done before the age of long-term memory; because gender identity is best supported by genitalia that look definitively male or female; because parents prefer it; and because, in the view of many pediatric urologists, the skin, connective tissue, and organs of infants heal faster and with less scarring than those of adolescents and adults.

 

The opposing view is that while surgery to preserve life and health—to create a urinary opening where none exists or remove malignant tissue, for example—should be done, healthy, functional, ambiguous gonad-al and genital tissue should remain untouched until and unless the patient, fully informed of possible risks, wants it removed or altered.

 

Management practices for DSD have evolved over the past 50 years, and, in that time, some of the surgical procedures have become the subject of heated debate, as experts have come to realize that sexual identity is not a matter of rearing alone, but also has strong, inborn biological components.  

 

Here, in their own words, is what a pediatric endocrinologist, a urologist, an intersex activist, and the parent of child born with a DSD have to say about the issue.

 

No Need to Rush Into Surgery

 

Philip Gruppuso, MD

Professor of Pediatrics

Brown University, Providence, R.I.

 

For the first 15 years of my medical career I routinely recommended sex-assignment surgery for infants born with ambiguous genitalia. Plenty of times I supported families' decisions to perform clitoral reductions. I was doing what I was taught, which was to make patients' appearance match their assigned gender.

 

It was a patient who changed my mind. Born with ambiguous genitalia, this person had partial androgen insensitivity syndrome (PAIS), a condition in which an infant born with an XY karyotype is either partially or totally unable to respond to testosterone. Although assigned a female gender in infancy, the patient self-identified as male from early childhood. He didn't have surgery as a newborn because the mother didn't want it. He returned to me as a teenager because he needed a doctor to help him make the physical transition to being male. By that time, he had been forced to take female hormones and had developed breasts. I treated him with male hormones and oversaw his getting insurance approval to have his breast tissue removed. He ultimately chose to have elective surgery to make his genitals more masculine in appearance.

 This case led me to reexamine my practices. I do not recommend sex-assignment surgery. Surgery, being ir-reversible, should be delayed until the patient can declare their sex and, preferably, give consent. 

 

As a competent medical doctor, however, I of course recommend surgery for health- or life-threatening conditions.  I was taught there are some things you shouldn't tell parents—such as the child's karyotype. The thinking was, if it is going to confuse them, maybe you shouldn't tell them. One of the things that has changed for the better is that it's no longer considered okay to withhold information or tell falsehoods to patients or parents. At the center of all treatment decisions should be the commitment to do no harm.

 

Management Usually Clear

 

Dix Poppas, MD, FACS, FAAP

Richard Rodgers Family

Professor and Chief

of Pediatric Urology

Komansky Center

for Children's Health

New York Presbyterian Hospital-Weill Medical College

of CornellUniversity

 

I've had the privilege to work with hundreds of children with DSD and their families, the vast majority of which have ambiguous genitalia—over 90% of these patients have congenital adrenal hyperplasia (CAH). These are genetic females with female internal genital structures who have been exposed to high levels of androgens in utero secondary to an adrenal enzyme defect. These children display varying degrees of external genital virilization including clitoromegaly and a urogenital sinus. I believe these girls with CAH do much better if surgical correction of the vagina and in some cases the clitoris is performed at an early age (six months).

 

Of all the CAH families I've worked with from the United States, I can't think of a single one that has raised their daughter as a male. However, I have treated four genetic females with CAH raised as males. These kids were given male gender assignments at birth and came to me later as young adults. One was school age and playing soccer when he started having his menstrual period. He was given male hormones and testicular prostheses along with hypospadias surgery to convert his enlarged clitoris to a functioning penis. He is now a top soccer player in his native country and is well adjusted to a male gender identity. Such cases beg the question of nature vs. nurture, and nurture clearly plays a huge role. 

 

The children who are most difficult to treat are those with partial androgen insensitivity syndrome (PAIS). These are genetic males with varying degrees of androgen receptor defects. We don't have enough data to determine where these patients will end up in terms of gender identity.

 

In dealing with children with PAIS and some forms of gonadal dysgenesis, I lean toward a male gender assignment because it can be surgically changed later in life. If these children ultimately decide on a female gender assignment they can easily be reconstructed to function in the female phenotype; however, once you convert genitalia to female, it's very difficult to reconstruct it back to a male phenotype.

 

Surgery Not a Panacea

 

Cheryl Chase

Founder and Executive Director,

Intersex Society of North America,

a DSD patient advocate group

 

 

I was born with unusual-looking genitals and the medical professionals seemed at a loss as to what to tell my mother. They didn't show me to her for three days, and responded to her distress by sedating her. Ultimately they told her I was a boy, sent us home and avoided us. My parents were confused, ashamed, and afraid.

 

When I was 18 months old, my parents took me to a hospital; ac-cording to my medical records, I was admitted for sex determination. Doctors performed a buccal smear; the result was the one they expect for females. Further testing revealed that I had ovotestes—gonads containing both testicular and ovarian tissue, as well as a uterus, vagina, and cervix. Many years later, I learned that the old label for my condition was “true hermaphrodite.”

 

Surgeons performed a complete clitorectomy and told my parents I was a girl. They also told them to change my name, throw away all evidence of my male identity, including home movies, clothes, and toys, and move to a new town to start over, which they did when I was in first grade. The doctors also told them not to tell me what had happened.

 

My family was traumatized by my birth and sex change. Having experienced firsthand how much pain misguided treatment can cause both patients and families, I'm proud to say that I did something positive for others with DSD. In 1993 I founded the Intersex Society of North America (ISNA), the first group to help adults born with DSD to speak out and advocate for better medical care. Our goals are to increase the visibility of DSD, oppose medically unnecessary genital surgery, and create a system of positive interventions to replace surgery and silence with peer and mental health support.

 

Supporters of surgery often cite studies looking only at genital appearance or gender dysphoria, as measured by outright gender change, to bolster their view that sex assignment is usually successful. But studies that examine more nuanced outcomes, such as how well a person functions socially or in intimate relationships, offer a more negative picture.

 

I am pleased to say that both sides in the surgery vs. anti-surgery debate are now finding some common ground. In 2005 an international group of experts in diverse disciplines (including two patient advocates, of which I was one) came to-gether to create new recommendations on how to care for people with DSD. Our work was published as the Consensus Statement on Management of Intersex Disorders (Pediatrics. 2006;118[2]:e488-e500). One of our most important accomplishments was the institution of a new nomenclature, re-placing the one based on inflamma-tory terms such as “hermaphrodite” and “intersex” with “Disorders of Sex Development.” We believe the terms hermaphrodite and intersex inappropriately label the person rather than the condition. And as with other disorders, the physician's goal should be to help the patient deal with the condition, which really cannot be cured or eliminated with cosmetic surgery.

 

In addition to calling for a more conservative approach to surgery, and an end to the traditional practice of withholding information about DSDs from patients and their parents, the statement calls for a multidisciplinary team-based management, with a focus on psychosocial care provided by mental health professionals.

 

Last year, ISNA issued a pair of books to help physicians and parents understand and manage DSD. These books are Clinical Guidelines for the Management of Disorders of Sex Development in Childhood and Handbook for Parents. They are available online at no charge at www.dsdguidelines.org.

 

A Parent's Perspective

 

Kaye Colello is the mother of a child born with a disorder of

sex development. Here, she talks about which treatment decisions she made and why.

 

AT FIRST, doctors thought my baby was a male with undescended testicles. That turned out to be wrong; she was biologically and chromosomally female. But we didn't know that immediately because her genitals were so virilized. We did know something was the matter though, when she began vomiting bile several hours after birth because she could not have a bowel movement. The doctors stabilized her and over the next three days performed a series of tests that revealed the presence of ovaries and a uterus. The diagnosis was salt-wasting congenital adrenal hyperplasia.

 

Our pediatrician sent us to Dr. Dix Poppas, chief of pediatric urology at the Children's Hospital of NewYork-Presbyterian/Weill Cornell. He laid out all the pros and cons of surgery and we decided to go ahead. The doctors told us Christianna would have to have surgery eventually in order to menstruate.

 

Christianna had surgery at four months. Dr. Poppas performed a clitoral recession. The nerve bundles were left intact. He also folded out her outer labia and created a vaginal opening; her inner labia were already there.

Today Christianna is six years old. She is happy and healthy. She is the belle of the ball; she lights up the room when she comes in. She is also a little tougher and stronger than my eight-year-old. She likes action toys and electronics. But she also likes pink fur boas.

 

She knows what happened. There is no reason for any of this to be a secret. Christianna knows she has a ‘pee-pee doctor,' and she knows the names and doses of all her meds. Last summer she had her adrenals removed because they did not work properly and were producing androgens. She now takes fludrocortisones and dexamethasone, and is expected to have nearly normal fertility as an adult.

 

I have never wavered in my feelings about surgery. I can't imagine her wondering about her body when she and her sister take showers together. And because of the degree of Christi's virilization at birth, I think there would have been more issues if I had waited and let her decide whether or not to undergo surgery—although I'm not putting down any parent who makes a different decision.

 

I think everything happens for a reason. All in all, Christianna has done fantastically well. We

are faithful Christians, and I often say God gave Christi the spirit of a lion because she's had to fight all her life. Our family is indeed  truly blessed.