In Charles Dickens' masterpiece, A Christmas Carol, Bob Cratchett says, "But I am sure I have always thought of Christmas time... as a good time; a kind, forgiving, charitable, pleasant time; the only time I know of, in the long calendar of the year, when men and women seem by one consent to open their shut-up hearts freely, and to think of people below them as if they really were fellow-passengers to the grave, and not another race of creatures bound on other journeys."
In this spirit of the holidays, I hope to open your hearts to understand a group of patients that have suffered, often silently, from stigmatization related to "disorders of sex development" (DSD) or "intersex," which affect up to 1 in 4,500 individuals. I am a pediatric endocrinologist (a physician who treats childhood hormone conditions) and specialize in caring for children with DSDs. I hear my patients, my friends and my family as well as the popular media struggle to conceptualize these conditions. Sadly, this lack of understanding often leads to unwarranted shame among patients or their families and cruel prejudice among the public. As I write this article, I worry that I will err in my wording and cause offense. In the past, terms like hermaphrodite and pseudohermaphrodite were used. These were considered perjorative, and an effort was made to adjust terminology, which led to the term DSD. Even this term, however, may brand these conditions as a disorder rather than a variation of human development. I chose to use the word DSD here as it is the currently accepted medical term and thus as a physician, it is the term I use. I am sensitive that even this word, chosen to refer to an embryologic process, can be upsetting.
Sex development is a highly complex process of fetal development that relies on an intricate series of interactions. This is not an x-rated discussion, but simply the process by which the fetus develops internal organs (ex. uterus, ovaries, epididymis, testicle) and external organs (labia, scrotum, clitoris, penis). It is imperative to understand that every baby starts out exactly the same! Baby girls and boys develop internal and external genital organs from the same initial fetal structures. For example, the clitoris and penis come from the same tissue which further develops under the influence of specific hormones. Any slight alteration of the sex development signals (chromosomes, genes, hormones) will lead to a DSD. These conditions do not happen as a result of any action or fault of the parents and they can happen to anyone. There are more than 30 types of DSDs of which I have described two in more detail.
A baby was born to parents who had been told, by prenatal ultrasound, to expect a baby girl, had told their family and friends and had equipped themselves with an arsenal of pink baby gear. At birth, the baby's external genitals had a structure which could be either a generous clitoris or a small penis with the opening for urination at the base rather than the tip. There was vaginal opening along with structures which partially resembled labia and partially a scrotum. The baby had a uterus, but also over the first week of life a gonad (the term for the structure that develops into an ovary or testicle after which the testicle usually descends into the scrotum) descended into one of the folds. Hormone evaluation was done and showed the baby made a typical amount of testosterone for a baby boy. Genetic analysis found that the baby's cells had variable chromosomal makeup with some of them containing an abnormal Y chromosome. Ultimately, the complicated medical evaluation led to a diagnosis of mixed gonadal dysgenesis, a condition in which the gonads form abnormally. This can lead to an infant with very little to no genital ambiguity for a girl or a boy or a situation like the one I just described, dependent on the exact genetic cause and the ensuing hormone production. The parents were faced the quandary of whether to choose to raise this baby as a girl or a boy.
A 17 year old girl presented with the complaint of not having started her period. She said she had started to develop some breast tissue around 12 years old, but had only developed a few pubic hairs. Her external genitals appeared as a typical female. She, however, was found to have a condition called Androgen Insensitivity Syndrome, a condition in which an individual has XY chromosomes and develops testicles and other "typically male" internal organs, but the receptors in their cells cannot respond to the testosterone. Consequently their external appearance may look completely "female" as in this girl who has Complete Androgen Insensitivity Syndrome or have some genital ambiguity in those with Partial Androgen Insensitivity Syndrome, depending on the degree to which their receptors are affected.
So, who are individuals with DSDs? Most importantly, they are defined by the same qualities that define all of us. They have hopes and dreams, strengths and weaknesses, and want to be cherished in their communities. Medically, those with DSDs may have atypical anatomy or hormone production. They might require hormone replacement to go through puberty or surgery to allow them to have sexual intercourse. Many people will ask "well, is that person with a DSD a girl or a boy?" I have learned from individuals with DSDs that binary categorization of gender is over-emphasize, but it remains a defining quality in our society. Often the person's gender identity (whether they identify or know themselves as male or female) does not match all of the internal or external organs. So, the individual with a DSD may have some typically male organs on the inside or have some more male-like organs on the outside, but identify as a female or vice versa. When an infant is born with a DSD, my job as specialist in this condition is to work together with our team in the Gender & Sex Development Program at the Ann and Robert H. Lurie Children's Hospital of Chicago. This team includes pediatric endocrinologists, urologists, surgeons, psychologists, geneticists and ethicists who evaluate the child's anatomy, genetics, and hormones to determine the specific diagnosis. We then need to educate and explain the findings to the family and work with them to chart the best course for their child, both medically and psychosocially.
Given our societal norms, most parents feel the need to choose a sex of rearing for the infant. Regardless of appearance, chromosomes and hormone levels, no one can tell you with certainty whether an infant will identify as a boy or girl or somewhere along that continuum. Development of gender identity is part of childhood and human development. Often there are good clues of a child's gender identity by age 4 to 5 years, but there is no test or accurate prediction method. So, we often to have to help families to choose a sex of rearing in infancy, but with very open discussion that the child may identify differently later. The parents of the first child I described, with mixed gonadal dysgenesis, ultimately chose to raise their child as a boy, but know that their child will be the one to identify his or her gender later in life. The 17 year old girl with Complete Androgen Insensitivity Syndrome identifies as a girl and is a girl, just with a little different internal anatomy than most girls.
Individuals with DSDs and their families are faced with struggles of a having medical condition as well as the associated psychosocial challenges. The parents of an infant may have to wait to determine the sex of rearing and name of the child for weeks while the medical details are sorted out. The simplest things, like calling their friends or family to announce the birth, are all of a sudden, emotionally charged. A young adult with a DSD wrestles with when to disclose this information to a romantic partner and fears the response. Fortunately, in our society today there is more awareness and understanding of these conditions, but there remains much work to be done to reduce the stigmatization. How would you feel if your child had a condition like this and was bullied or ostracized? What if you were the parents of the first baby who had expected a girl, but decided to raise as a boy and had to explain it to your friends? How would you feel if you saw friends or co-workers whispering amongst themselves about your precious infant? What if your young adult child with a DSD found it hard to develop romantic relationships for fear of rejection? Please, take time in this holiday season to remember to be considerate of all people, including those with differences of sex development. Do not judge those whose bodies developed a little differently. There are differences in each of us and they make our world a wonderful and inspiring place.