Complete Androgen Insensitivity Diversity

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    This rare syndrome is unfortunately called CAIS. The 'S' is for 'Syndrome'. It is an insensitive term, as there is nothing wrong with these females in any other was than they cannot reproduce/bear children. These ladies exhibit all primary and secondary sexual characteristics. However, unbeknown to them they have testes rather than ovaries, due to being karyotypically 'XY'.

    SEX STATES: the purpose of this blog is to explain the intricacies of the four determinant 'pathways; and, perhaps point to where Transsexual individuals diverge from the two accepted gender 'boxes of Western Society'.

    There is a four level definition:1/ CHROMOSOMAL (XX:XY),2/ Internal Organs (testes and ovaries, 3/External Organs (penis, breasts, vagina and vulva) and finally4/ Psyche.

    The 'XY' individual has a set of genes situated on the 'Y' chromosome which trigger, during intra-uterine and subsequent development , a cascade of events usually (but not always, as demonstrated in CAI's') in a male. In a 'XX' individual, a default development process results in the sex being female.

    In order to achieve complete male and female development, the process requires the expression of both female and male sex hormones, and their effects on 'target' tissues. In the situation where there is a lack of, or imbalance, of sex hormones the resultant effects can create 'abnormalities'. Coding of downstream signal transduction, receptors and sex hormones is altered by 'defective' genes.

    SUMMARY: Genetic 'mutations can block and 'adversely influence sexual development in 3 specific stages: 1/ before the development of internal sex organs 2/ after they develop, but before secondary sex organs develop; and, most importantly in possible respect of Transsexual individuals, 3/ after external sex organs develop, but before the sexual component of the'Psyche' develops or matures. One can conjecture that the 'Transsexual' states develops because of a change in determinants at the above 'stage 3.

    What of the 'Y' chromosome carried by 'all' Transsexual 'males': well there is one extremely rare state which shows how complex the situation can be (and we are only scratching the surface in our understanding ot the human genome) the 'Y' chromosome is present within all cells and the developing system may or may not chose to use it. This situation is called a 'Gyandomorph', where female and male characteristics are demonstrable at all four levels. This inevitably leads to amiguity with regard to sex organs; and, is the result of a XXXY configuration in these individuals failing to achieve even distribution throughout the body. These individuals have unambiguous sex organs of both males and females and are regretfully labelled as Hermaphrodytes.

    I Have had the honour of being asked to write about Sex Genetics in 'Frock' magazine, and hope to further enlighten members in the future.

     

4 comments
  • Hannah Ceridwen Eluned Cavendish-Grosvenor I have 'invented' the substitution od 'Diversity' for 'Syndrome', as these individuals are to all intents and purposes normal humans. A Syndrome denotes clinical abnormalities which present in all 'sufferers'.
  • Amanda Bruce I'm not one for labels, as you know, but I agree entirely about diversity as opposed to syndrome. However, I have a couple of questions, Hannah. "Genetic 'mutations can block and 'adversely influence sexual development." Is the action of mutations...  more
  • Hannah Ceridwen Eluned Cavendish-Grosvenor Amanda, I did not intend to use the term 'adverse' in anything other than a genetic framework. As you rightly say, mutation is frequently advantageous, and beneficial to the continued development/survival of a species. There are so many complex factors...  more
  • Cristine Jennifer Shye. BL AIS includes MAIS PAIS & CAIS, I wrote a theisis on it when I was 16, I was born with Reifensteins Syndrome.