Non-Klinefelter XXY

47,XXY is a chromosomal arrangement where a person has 2 X chromosomes and 1 Y chromosome. The apparent majority of individuals with the XXY karyotype are males and some of those are considered to have Klinefelter syndrome. However other individuals use estrogen and identify as female[1] (some are born with a female phenotype and with SRY negative 47,XXY[2]) and some 47,XXYs choose to be androgynous, and/or use no hormone treatment.[3] The choice of identification and hormonal or surgical treatments may follow gender identity counselling.[4] It is not known what percentage of 47,XXYs identify as male, as female, or otherwise.[3]

Gender identities

There are three distinct gender categories of people who are XXY or a variant:

Male

Klinefelter syndrome is a clinical diagnosis that has a basis in extra genetic material in the form of an additional X chromosome.[5] These individuals identify as men, may take testosterone, and are, for all practical purposes, ordinary males. They may be challenged by development of breast tissue called gynecomastia for males and should learn to do breast self exams since they are at risk for breast cancer if they do not choose to have mastectomies. They may or may not consider themselves to have Klinefelter syndrome and may choose to go by XXY Males.[6] Infertility can be a concern for this group.

Female

These individuals identify or choose to identify as women, take estradiol. Some of them can and have been documented as bearing children.[2]

There is no syndrome for an XXY person who identifies female; their breasts, hips, and lack of testicular phenotype-associated features are considered normal.[4]

A very small number of XXYs not born with female genitalia, generally designated male at birth, actually go through the process of feminizing transition. It would appear that more choose to adapt to the fluidity of their gender than to make a physical transition from one binary to the other.[7]

Non-binary

This group of XXY people often feel they are neither exact binary gender (associated with many possible non-binary or genderqueer identities, aside genderlessness, often described as agender), but usually pick one side of the binary of male or female gender as their main identity for presentation due to expected binary roles present in culture and society. They may take hormone supplementation in the form of estrogen or testosterone as needed to avoid issues with a variety of medical problems (such as osteoporosis), which can affect people with low base hormone. Non-binary XXY people do not have Klinefelter syndrome; possessing breasts is not always a challenge to their gender identity and they are comfortable with their female phenotype.[8] Although, they should learn to do breast self exams since they might have a higher incidence of breast cancer.[9]

See also

References

  1. ↑ Schmid, Michael; Guttenbach, Martina; Enders, Herbert; Terruhn, Volker (December 1992). "A 47,XXY female with unusual genitalia". Human Genetics 90 (4): 346–349. doi:10.1007/BF00220456. PMID 1483688.
  2. 1 2 Röttger, Susanne; Schiebel, Katrin; Senger, Gabriele; Ebner, Susanne; Schempp, Werner; Scherer, Gerd (2000). "An SRY-negative 47,XXY mother and daughter". Cytogenetics and Cell Genetics 91 (1–4): 204–207. doi:10.1159/000056845. PMID 11173857.
  3. 1 2 Diamond, Milton (April 2011). "Developmental, sexual and reproductive neuroendocrinology: historical, clinical and ethical considerations (editorial)". Frontiers in Neuroendocrinology 32 (2): 255–263. doi:10.1016/j.yfrne.2011.02.003. PMID 21310174.
  4. 1 2 Parkinson, John (2007). "Gender identity in Klinefelter’s syndrome and male hypogonadism: four cases of dysphoria (oral presentation abstract, 42nd RANZCP Congress, Gold Coast, Queensland, April 29–May 3, 2007)". Australian and New Zealand Journal of Psychiatry 41 (Supplement 1): A70. doi:10.1080/14401614070410s10109.
  5. ↑ Groth, Kristian A.; Skakkebæk, Anne; Høst, Christian; Gravholt, Claus Højbjerg; Bojesen, Anders (January 2013). "Clinical review: Klinefelter syndrome—a clinical update". Journal of Clinical Endocrinology and Metabolism 98 (1): 23–30. doi:10.1210/jc.2012-2382. PMID 23118429.
  6. ↑ Bock, Robert (August 1993). Understanding Klinefelter syndrome: a guide for XXY males and their families. NIH Pub. No. 93-3202. Bethesda, Md.: Office of Research Reporting, National Institute of Child Health and Human Development. OCLC 32523247.
  7. ↑ Auer, Matthias K.; Fuss, Johannes; Stalla, Guenter K.; Athanasoulia, Anastasia P. (October 2013). "Twenty years of endocrinologic treatment in transsexualism: analyzing the role of chromosomal analysis and hormonal profiling in the diagnostic work-up". Fertility and Sterility 100 (4): 1103–1110. doi:10.1016/j.fertnstert.2013.05.047. PMID 23809495.
  8. ↑ Saavedra-Castillo, Eloisa; Cortés-Gutiérrez, Elva I.; Dávila-Rodríguez, Martha I.; Reyes-Martínez, Maria Eugenia; Oliveros-Rodríguez, Amalia (February 2005). "47,XXY female with testicular feminization and positive SRY: a case report". Journal of Reproductive Medicine 50 (2): 138–140. PMID 15755052.
  9. ↑ Coley, Geoffrey M.; Otis, Richard D.; Clark, Willia E. II (June 1971). "Multiple primary tumors including bilateral breast cancers in a man with Klinefelter's syndrome". Cancer 27 (6): 1476–1481. doi:10.1002/1097-0142(197106)27:6<1476::AID-CNCR2820270630>3.0.CO;2-T. PMID 4325988.
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