Poster Presentation The Joint Annual Scientific Meetings of the Endocrine Society of Australia and the Society for Reproductive Biology 2017

Chromosomes, hormones and gender: transsexualism in a patient with Klinefelter syndrome (#232)

Katie Wynne 1 2 3 , Rachael Wallbank 4
  1. Department of Diabetes & Endocrinology, John Hunter Hospital, Newcastle, NSW, Australia
  2. School of Medicine and Public Health, University of Newcastle, Newcastle, NSW, Australia
  3. Hunter Medical Research Institute, Newcastle, NSW, Australia
  4. Accredited Specialist Family Law Institute LSNSW, Wallbanks Legal, Shoal Bay, NSW, Australia

Klinefelter syndrome (KS) is defined as “a syndrome of tall stature, eunuchoidal body, gynaecomastia, azospermia and increased FSH”.1 It the most frequent sex chromosome anomaly (47XXY) occurring in 0.2% male-bodied people.2 Hypogonadism may present in childhood, however, 50% remains undiagnosed; the most reliable marker is small testicular volume; features of testicular failure occur from puberty.2 Although transsexualism occurs in 0.4-1.3% of the population,3 the literature reports few cases in patients with KS.4

A 29-year-old male-bodied person was identified on fertility testing as 47XXY karyotype. Puberty had commenced concurrent with the subject’s peers, but the patient did not attain male pubertal maturity. Ten years later testosterone was initiated for hypogonadism. The physical changes from testosterone replacement resulted in significant gender dysphoria. The patient presented requesting oestrogen therapy; it was clear that she had experienced herself as female since childhood. Endocrine assessment prior to transition demonstrated small (4ml) testes, gynaecomastia and low testosterone (6mmol/l) with elevated gonadotrophins (LH12.7IU/l; FSH34.7IU/l). The co-morbidities associated with 47XXY karyotype (e.g. metabolic syndrome, thromboembolic disease, osteoporosis and psychiatric morbidity) were considered when planning medical care.5 Androgen blockade was commenced followed by transdermal oestrogen. The patient has successfully publically affirmed her female sex and continues hormonal therapy; she remains with her female partner and plans reassignment surgery.

This case highlights the inadequacy of the traditional binary concept of sexual differentiation, and the need for a more complex framework.6 Progress in transgender health may be limited by a lack of clear, respectful and appropriate terminology.7 Failure to distinguish issues associated with diversity in gender expression from issues associated with diversity in sexual formation may result in inaccurate medical communication, as well as a loss of legal and human rights, including access to medical treatment.8 The landmark Lancet series emphasises the importance of access to effective healthcare for this community.9,10

  1. Klinefelter HF, Reifenstein EC, Albright F. Syndrome characterized by gynecomastia, aspermatogenes without A-Leydigism, and increased secretion of follicle stimulating hormone. J Clin Endocinol Metab. 1942;2:615-627.
  2. Herlihy AS, Halliday JL, Cock ML, McLachlan RI. The prevalence and diagnosis rates of Klinefelter syndrome: an Australian comparison. Med J Aust. 2011 Jan 3;194(1):24-8.
  3. Meerwijk EL, Sevelius JM. Transgender Population Size in the United States: a Meta-Regression of Population-based Probability Samples. Am J Public Health 2017 107(2):216.
  4. Seifert D, Windgasse K. Transsexual development of a patient with Klinefelter’s syndrome. Psychopathology 1995;28(6):312-6.
  5. Swerdlow AJ, Hermon C, Jacobs PA et al. Mortality and cancer incidence in persons with numerical sex chromosome abnormalities: a cohort study. Ann Hum Genet.2001 Mar;65(pt2):177-88.
  6. Joel D. Genetic-gonadal-genital sex (3G-sex) and the misconception of brain and gender, or, why 3G-males and 3G-females have intersex brain and intersex gender. Biol Sex Differ 2012 17;3(1):27.
  7. Winter S, Diamond M, Green J, Karasic D, Reed T, Whittle S, Wylie K. Transgender people: health at the margins of society. Lancet (2016) 388(10042):390-400.
  8. Wallbank R. Part III Legal Views (Australian Chapter). The Legal Status of Transsexual and Transgender Persons. (2015) Scherpe JM (Editor) Intersensia Publishers, UK.
  9. Reisner SL, Poteat T, Keatley J, Cabral M, Mothopeng T, Dunham E, Hollan CE, Max R, Baral SD. Global health burden and needs of transgender populations: a review. Lancet 2016 388(10042):412-36.
  10. Winter S, Settle E, Wylie K, Reisner S, Cabral M, Knudson G, Baral S. Synergies in health and human rights: a call to action to improve transgender health. Lancet 2016 388(10042):318-21.