This is the first in a series of posts in which I cover the basics of a particular intersex trait. For the purposes of this blog an intersex trait is defined as a bodily characteristic or set of bodily characteristics that have been determined to not be standard for male or female. This determination can be primarily chromosomal, hormonal, gonadal, and/or genital. Some examples include Androgen Insensitivity Syndrome, Congenital Androgen Hyperplasia, and cliormegaly. To begin I will focus on my own intersex trait, Turner syndrome.
Turner syndrome is a genetic intersex trait that affects approximately one in 2,000-2,5000 live female assigned births and most commonly manifests in a 45X karyotype instead of a typical 46XX karyotype or a typical 46XY karyotype. Other ways Turner syndrome can present itself include a partial absence of the second X chromosome, a partial absence in some cells and a complete absence in others, two X chromosomes in some cells and only one in others, and a 46XY/45X karyotype.
The vast majority of people born with Turner syndrome do not show any visible signs of having an intersex trait at birth, but this may not be the case for everyone. The most common symptoms of Turner syndrome are short stature and infertility due to lack of ovarian development. Beyond that Turner syndrome has such a wide range of possible manifestations any individual diagnosed with the condition will have only a handful of symptoms and no two individuals are the same. In other words, while the following descriptions of health issues associated with Turner syndrome may seem severe and intimidating it must be kept in mind this condition varies widely in severity from those who experience some of the more serious health issues mentioned here to those who experience so few symptoms they go through much of their lives undiagnosed.
While it is true most intersex traits do not present serious medical concerns in and of themselves, Turner syndrome is an example of an intersex trait that does present some potentially serious concerns. However these concerns at their core are not about gender/sex ambiguity per say and are actually about the health of organ systems that can be impacted when the second X chromosome is absent or partially absent. Before birth a prenatal ultrasound of a baby with Turner syndrome may show large fluid collection at the back of the neck or other abnormal fluid collections as well as heart and kidney abnormalities. At birth some with Turner syndrome may have certain physical features. These features include: wide or web-like neck, receding or small lower jaw, high, narrow roof of the mouth, low-set ears, low hair at the back of the neck, broad chest with widely spaced nipples, short finger and toes, arms that turn outward at the elbows, fingernails and toenails that are narrow and turned upward, swelling of the hands and feet, short stature, and delayed growth.
Other potential symptoms of Turner syndrome that can present early in a person’s life include frequent ear infections, hearing loss, underactive thyroid, celiac disease, learning difficulties particularly in math and spacial reasoning, and a delay in growth. The most common diagnosis of these learning difficulties is nonverbal learning disorder. These issues are typically addressed with growth hormone replacement therapy, daily medications, medical monitoring, and appropriate accommodations in school if necessary along with care to address heart and kidney issues a person may be experiencing.
During adolescence the most common sign of Turner syndrome is a an absence of spontaneous puberty due to a lack of ovarian development, although there are some expections. In most cases this is addressed with estrogen and progesterone replacement therapy. With this treatment most go on to develop culturally feminine embodiments alongside their peers and the majority do feel comfortable living as women. However this is not the case for all of us.
Adults with Turner syndrome are more likely to encounter issues with osteoporosis and infertility. The former is addressed with continued hormone replacement therapy and the latter can be addressed through reproductive technologies or adoption for those who wish to have children. Issues with various organ systems beyond the aforementioned congenital heart and kidneys abnormalities can also arise. This makes continued appointments with an adult endocrinologist crucial.
Once again it is important to stress Turner syndrome has quite a wide range when it comes to symptoms and no individual will have all of the aforementioned symptoms and no two individuals are the same. For example, I showed none of the major signs of Turner syndrome at birth and was not diagnosed until the age twelve. Others possess visible signs of Turner syndrome from the beginning and as a consequence were diagnosed as infants. I was diagnosed only after it was clear I was leveling off on the growth chart early and was showing no signs of spontaneous puberty. Others do begin puberty spontaneously and are diagnosed as adults after other health issues point to Turner syndrome. Then there are also those who experience so few symptoms they go undiagnosed for the majority or even all of their lives. These are just a few examples of the wide range of ways Turner syndrome can affect different individuals.
Beyond the long list of potential physical symptoms it is also important to acknowledge diversity within the Turners community. We can be found in all classes, races, ethnicities, cultures, regions, and just about every other social category one can imagine. This includes intellectual ability. Most of us have average to above intelligence and go on to have conventionally successful careers. We are your professors, school teachers, lawyers, doctors, nurses, day care providers, and much more. However it is also important to acknowledge some of us do not fit these conventional ideas of intelligence and success and there is nothing wrong with that either. No one should have to fit into society’s narrow vision of intelligence and success in order to live a meaningful life and be valued.
Finally, it is also important to recognize we come in all genders, gender expressions, and sexualities. While it is true most in the Turners community identify and present themselves as straight women, it is imperative gender and sexual diversity within the Turners community be acknowledged in medical care, media, and especially in support groups in order to ensure everyone receives the support they need regardless of gender identity, gender expression, and sexuality. In the end the best thing friends, family, and medical professionals can do for someone diagnosed with Turner syndrome is honor who they are absent chromosome and all and remember its about people, not chromosomes, hormones, or secondary sex characteristics.
Sources and Further Reading