Abstract
EMBO Mol Med (2019) 11: e10668[OpenUrl][1][FREE Full Text][2] Interdisciplinary research and education are key for a better appreciation of sex and gender as defining a person, and for novel societal and personalized health‐care approaches. While the involvement of abnormal Androgen Receptor (AR) signalling in prostate cancer is well established, there is growing evidence that it also plays a role in various other malignancies. A key target organ for epigenetic modification is the human brain, which has anatomical differences in various regions between men and women. While significant research is underway to better understand the factors that determine sex and gender, other essential health‐related issues for transgender patients are much less well studied. Sex and gender are different characteristics and yet inextricably linked to the human experience in determining bodily, mental and social activities. Sex refers to the biological and physical features linked with reproductive functions that result from the combined action of sex chromosomes and hormones. Gender refers more widely to an individual's self‐perception and representation as male, female or non‐binary and their place in society. Historically, the health sciences have kept sex and gender separated as biological and societal factors. However, there are increasing biological as well as medical arguments to question whether there is a true divide between the two. Personalized prevention and treatment of a large number of medical conditions critically depends on a better appreciation of both the physiological difference between the biological sexes and how male, female and non‐binary identities are attained and maintained. In fact, sex and gender are at the interface between environmental and hormonal factors and genetic and epigenetic determinants of organ development, most notably the brain. Interdisciplinary research and education are key for a better appreciation of sex and gender as defining a person, and for novel societal and personalized health‐care approaches. It … [1]: {openurl}?query=rft.jtitle%253DEMBO%2BMol%2BMed%26rft_id%253Dinfo%253Adoi%252F10.15252%252Femmm.201910668%26rft_id%253Dinfo%253Apmid%252F30979711%26rft.genre%253Darticle%26rft_val_fmt%253Dinfo%253Aofi%252Ffmt%253Akev%253Amtx%253Ajournal%26ctx_ver%253DZ39.88-2004%26url_ver%253DZ39.88-2004%26url_ctx_fmt%253Dinfo%253Aofi%252Ffmt%253Akev%253Amtx%253Actx [2]: /lookup/ijlink?linkType=FULL&journalCode=embomm&resid=11/5/e10668&atom=%2Fembomm%2F11%2F5%2Fe10668.atom
Highlights
Interdisciplinary research and education are key for a better appreciation of sex and gender as defining a person, and for novel societal and personalized health-care approaches
It is commonly known that the presence of the male Y chromosome triggers a cascade of events resulting in male sex development, with female determination occurring by default (Wijchers & Festenstein, 2011; Arnold, 2012)
Less appreciated is the fact that the genetic information carried by the Y chromosome is minuscule relative to that stored in the X chromosome and that only the single SRY gene, buried in a condensed dormant region of the Y chromosome, drives the whole male sex determination process (Waters et al, 2007)
Summary
It is commonly known that the presence of the male Y chromosome triggers a cascade of events resulting in male sex development, with female determination occurring by default (Wijchers & Festenstein, 2011; Arnold, 2012). Clinical syndromes with similar dissociation between sex chromosomes and male versus female phenotypes occur as a result of inactivating mutations of another gene of key importance for many other aspects of human health and behaviour: the gene coding for the AR (Hughes et al, 2012). This protein, expressed in cells of all types and functions, senses and responds to androgens, steroid hormones named for their “male-determining” function. While the involvement of abnormal AR signalling in prostate cancer is well established, there is growing evidence that it plays a role in various other malignancies— breast and lung cancer (Clocchiatti et al, 2016)
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