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