Disorders of sex development expose transcriptional autonomy of genetic sex and androgen-programmed hormonal sex in human blood leukocytes : Paul-Martin Holterhus, Jan-Hendrik Bebermeier, Ralf Werner, Janos Demeter, Annette Richter-Unruh, Gunnar Cario, Mahesh Appari, Reiner Siebert, Felix Riepe, James D Brooks and Olaf Hiort BMC Genomics 2009, 10:292
Gender appears to be determined by independent programs controlled by the sex-chromosomes and by androgen-dependent programming during embryonic development. To enable experimental dissection of these components in the human, we performed genome-wide profiling of the transcriptomes of peripheral blood mononuclear cells (PBMC) in patients with rare defined "disorders of sex development" (DSD, e.g., 46,XY-females due to defective androgen biosynthesis) compared to normal 46,XY-males and 46,XX-females.Intersexed people are Nature's Experiments. I know, I'm one of them, and one of the rather less common ones. As such, we can be useful experimental tools for helping the rest of Humanity discover much about itself - the origins of gender during foetal development. Now some of us don't like the idea of being experimental animals. Because that's the way many of us have been treated, not as humans, but as things. Objects.
A significant fraction of gene expression differences between males and females in the human appears to have its roots in early embryogenesis and is not only caused by sex chromosomes but also by long-term sex-specific hormonal programming due to presence or absence of androgen during the time of external genital masculinization. Genetic sex and the androgen milieu during embryonic development might therefore independently modulate functional traits, phenotype and diseases associated with male or female gender as well as with DSD conditions.
I personally don't mind in the slightest. I'm a Scientist, and this is one case where I absolutely, positively know the experimental subject has given full and informed consent. Because it's me, and just as I want to help others on a personal basis, I also want to help humanity as a whole advance its knowledge here. I consider myself fortunate to be in this position - though of course, others may differ, and with good reason too. I can only speak for meyself.
Here's what Prof Sidney Ecker wrote to me (and others, such as Prof Milton Diamond) about this paper:
Hi Guys,So I better get reading.
Here is a recent article from Germany and Stanford, which makes many of the points we talked about, early embryogenesis of gender identity controlled by androgen or lack thereof and persistence. This is based upon a Human gene subset independent of external genitalia, which is related to the level of early embryonic androgens. These were found in Adult Monocytes of human blood felt to be derived from fetal stem cells. The authors feel if we could find this subset in other tissues such as brain, we could relate these genes to gender identity and gender behavior (functionality) independent of genitalia. This another piece of human evidence continuing in the direction we proposed. Wow! I'll have to read the pdf 3 more times to fully understand it. Happy 4th and the Fireworks in Boston were Spectacular. When you have nothing to do, could you tell me what you conclude?