Introductions to Intersex Traits: What is Klinefelter Syndrome?

This is the third 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. Here the focus will be on Klinefelter syndrome.

Klinefelter syndrome is a genetic condition in which a person is born with a 47XXY karyotype or a 47XXY/46XY karyotype instead of a typical 46XX karyotype or 46XY karyotype. This particular syndrome occurs in 1 out of 500 to 1 in 1,000 live male assigned births and manifests in a variety of ways that range from the mild to the severe. No two cases are the same and it is likely any one individual will only experience a hand full of symptoms in their lifetime.

At birth Klinefelter syndrome commonly results in genitals that are considered typical for males and most are not diagnosed until later. A diagnosis is usually made when puberty is not be progressing as expected during adolescence or issues of infertility arise in adulthood, although some are diagnosed before birth through prenatal genetic testing. Common physical signs of Klinefelter syndrome include tall stature, long legs, small, firm testes, small penis, enlarged breasts, and little to no body and facial growth.

Beyond the aforementioned physical signs, Klinefelter syndrome is also associated with various learning difficulties including difficulties with memory, attention, verbal communication, and social skills. When present, these difficulties can be overcome with appropriate accommodations in school and support from family and friends as well as others in Klinefelter community.

In adulthood the most common issue associated with Klinefelter syndrome is infertility due to a lack of testiculuar development. In short, the testes do not produce sperm and even in cases when sperm is produce they often die off. Today there are options for those who do wish to have children including adoption and, in some cases, sperm extraction, freezing, and In Vitro Fertilization (IVF) with Intra-clytoplasmic sperm injection (ICSI).

Along with infertility, adults with Klinefelter syndrome also have an increased risk for osteoporosis, breast cancer, varicose veins, and autoimmune disorders than their XY counterparts. These increased risks is often attributed to low testosterone levels or the presence of the second chromosome. There is also an increased risk for diabetes, lung disease, taurodontism, sleep apnoea, essential tremor and unbalanced gait than the general population. While this list of possible health issues may look intimidating, it is important Klinefelter syndrome presents in a wide range of ways and it is highly unlikely any one individual will have experience all of these health issues over their lifetime. Although it is important all of these health risks be taken into account when receiving health care.

Beyond monitoring for potential health and fertility issues associated with Klinefelter syndrome, other conventional medical interventions to a diagnosis of Klinefelter syndrome in adolescence and beyond often include testosterone replacement therapy and surgical removal of breast tissue in the interest of promoting a more conventional adult male appearance. While it is true the majority do grow up to live comfortably as men and benefit from such treatment plans, this is not the case for everyone. It is important to recognize people with Klinfelter syndrome come in all genders, gender expressions, and sexualities and with diversity of identities comes diversity in medical and psychological needs.

In the end informed consent in intersex health care is paramount and everyone has the right to bodily integrity. For more information on Klinfelter syndrome, informed consent, bodily integrity and personal narratives from within the Klinfelter community please visit the resources below.

Sources and Further Reading

  1. http://www.isna.org/faq/conditions/klinefelter
  2. https://www.genome.gov/19519068/
  3. http://www.ksa-uk.net/
  4. http://www.aaksis.org/
  5. http://klinefeltersyndrome.org/Stefan.htm
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Introductions to Intersex Traits: What is Androgen Insensitivity Syndrome?

This is the second 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 characteristic 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 Turner syndrome, Congenital Androgen Hyperplasia, and cliormegaly. In this post I will focus on Androgen Insensitivity Syndrome (AIS).

AIS is an inherited intersex condition (expect for the occasional spontaneous mutation) that occurs in approximately 1 in 20,000 live births and results in partial to complete inability of the body’s cells to respond to androgens, which are the hormones commonly associated with male physiological development. Depending on the extent of the insensitivity, AIS can present in a variety of ways. Complete Androgen Insensitivity Syndrome (CAIS) in most cases results in a 46XY karyotype, undescended or partially descended testes, a short vagina without a cervix and no uterus or fallopian tubes. In some cases infants born with CAIS do not show obvious signs of the condition until puberty and are assigned female at birth without any question. In other cases the signs of the condition are obvious from birth. During puberty those with complete CAIS develop breasts as the body converts some testosterone into estrogen. However, they do not start a menstrual cycle without a uterus. Also, due to their insensitivity to testosterone, they grow little to no armpit and pubic and do not have any acne. Partial Androgen Insensitivity (PAIS) often results in an individual with a 46XY karyotype and ambiguous genitalia that can either be described as a large clitoris or a small penis. Here it is also important to note PAIS may actually be quite common and has been suggested to be the cause of infertility in many men whose genitals are typical in appearance.

Some of the most common medical responses to AIS involve medically unnecessary surgical interventions. These procedures involve removing internal testes and/or modifying genitals to appear more male or female. Along with these surgical interventions, there is also a history of parents and medical professionals refusing to disclose an AIS diagnosis to affected individuals. As well-intentioned as these responses may be they are actually problematic for many reasons, the most obvious being the fact these surgical interventions are mostly performed on infants and children who cannot consent. While it is true removal of internal testes is advisable in some instances due to cancer risks, cases of testicular cancer before puberty are extremely rare and there is no reason why such surgeries cannot be delayed until the individual is an adult with the ability to make an informed decision. As for genital surgeries, being born with genitals deemed to be ambiguous does not pose any physical dangers in and of itself. Unless the genitals in question have formed in such a way that bodily functions like urination are disrupted and the child’s life is threatened there is no medical reason to modify an infant’s genitals. Thus the reasons behind the surgeries performed on infants and children with AIS and other intersex conditions are purely cosmetic and often rooted in cisheteropartriarchy. A good example of this is the practice of lengthening the vaginas of infants and children with CAIS. The most commonly cited reason for vaginoplasty in these cases is to enable the female-assigned infant to one day have cis/heteronormative, penetrative sex as an adult. Under this line of reasoning there is absolutely no consideration of the various ways the individual’s gender and sexuality may develop over time let alone any concern for their future sexual pleasure should the procedure fail. After all she’s going to grow up to be a married woman and it’s all about her future husband’s pleasure, right? Once again such surgeries should not be imposed on anyone. Instead they should be offered later when the person is able to make an informed decision.

Beyond the physical and mental repercussions of nonconsensual surgeries there are the psychological consequences of secrecy regarding a diagnosis of AIS. While nondisclosure is done in the interest of sparing the individual unnecessary upset and confusion the actual lived experiences of those in the AIS community indicate such secrecy is actually harmful. Most people diagnosed with AIS who were not told of their condition have reported feelings of shame and confusion upon discovering they have AIS and advise full and complete disclosure from the beginning. A prominent example of this can be found in the narrative of Georgiann Davis, who tells of her experiences with AIS, nonconsensual childhood surgeries, and nondisclosure in Contesting Intersex: The Dubious Diagnosis as part of her investigation into intersexuality, intersex rights movements, and current diagnostic nomenclature. Along with her own story Davis also includes insights from interviews she conducted with intersex people on their experiences with medical terminology and practices.

Rather than approach AIS with secrecy and nonconsensual, medically unnecessary surgeries medical professionals, families, and individuals with AIS should work together for the well-being of those diagnosed with AIS in ways that respect their bodily autonomy and humanity. This means ending the imposition of medically unnecessary surgeries on infants and children and creating supportive environments free of shame, stigma, and secrecy. Above all individuals with AIS should take the lead in these efforts, challenging abuses of medical authority as necessary and supporting one another.

Access to support groups has also proven to be helpful for many individuals with AIS and their families, especially when first adjusting to a new diagnosis. An excellent example of such a group working today is the DSD-AIS Support Group. In this case DSD stands for Differences in Sex Development as opposed to the highly medicalized Disorders of Sex Development terminology that has been highly debated within the intersex community over the past decade. The group started out as a support group for women with AIS, but recent decades has branched out into a larger support group with a mission of, “Promoting support, education, and outreach to foster healthy outcomes for adults, youth, children, and families affected by Intersex/Differences of Sex Development.” This includes not only intersex women with AIS, but also intersex men, transgender, and nonbinary people with AIS and anyone else with an intersex trait and their families. Such support groups help individuals and families realize they are not alone, find resources, and exchange information. They can also be valuable educational spaces for medical professionals and others who wish to be allies to the intersex community.

Sources and Further Reading 

  1. http://www.isna.org/faq/conditions/ais
  2. http://www.isna.org/faq/conditions/pais
  3. https://www.childrens.com/specialties-services/specialty-centers-and-programs/gynecology/what-we-treat/androgen-insensitivity-syndrome
  4. http://aisdsd.org/
  5. Contesting Intersex: The Dubious Diagnosis Georgiann Davis

 

Introductions to Intersex Traits: What is Turner Syndrome?

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 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/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 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

  1. http://www.isna.org/faq/conditions/turner
  2. http://www.turnersyndrome.org/copy-of-about
  3. http://www.mayoclinic.org/diseases-conditions/turner-syndrome/basics/symptoms/con-20032572
  4. https://rarediseases.org/rare-diseases/turner-syndrome/
  5. https://www.turnersyndromefoundation.org/aboutts.html
  6. http://www.huffingtonpost.com/kelseigh-ingram/how-not-to-represent-turner-syndrome-in-media_b_7201490.html