Reblogging this from Hungry-Skin ‘cause I was handed it off from another mod of not-your-intersex pawn but I might as well speak on my main to confirm we are two separate people.

Personally, I suffer from Congenital Adrenal Hyperplasia by 21-hydroxylase deficiency. This is caused by autosomal mutations of gene CYP21A2. In my specific case, a single base pair point mutation of thymine to guanine that is homozygous on both copies of my gene and referred to by my geneticist as V281L.

V281L severs my body’s ability to convert 17-OH-Progesterone into 11-Deoxycortisol and later the life-necessary steroid cortisol itself. 21-hydroxylase is needed for this conversion, yet my 21-hydroxylase molecule has a mutated projection in one of its binding sites due to V281L that prevents it from doing its job and lets progesterone build up while my body freaks out over its lack of cortisol and incessantly releases ACTH to put my adrenal glands into overdrive. The excess progesterone is made into testosterone and dihydrotestosterone when it gets built up too far, hence why it causes the extreme virilization that caused my two grow a clitoral hypertrophy of 2″ nonerect, a skeleton that looks nearly male in proportion, tight and packed muscle mass, a full beard pattern, and a voice pitch in the male range. This is all from one base pair being mutated out of 3 billion within the human genome–making me less than one three billionths of a percent different than any other woman on Earth. The Y Chromosome is host to 1% of the genome’s base pairs for comparison, and my mutation has less than a billionth of a percent of its quantity.

CAH has nearly taken my life on three occasions due to adrenal crisis. Those of us with it must live on three dosings of prednisone and two of Florinef a day, which alter in dose amount to mimic a healthy person’s cortisol fluctuation but can never be determined perfectly and leads to accidental overdose every now and again. Aside from adrenal crises, we also suffer from horrendous skeletal/joint damage, heart destruction, dangerous blood pressure, eye problems, and are at an extremely heightened risk of autism due to neonatal androgen exposure. None of the above should mark me as a new or third sex as my genotype does not contain a sex chromosome other than X or Y, I do not produce a gamete other than ovum or sperm, and I do not have a reproductive system spawned neither of Mullerian nor Wolffian origin. I am XX, female, and produce ovum though I am infertile and cannot pass them. Any XY disorder will be unable to produce ovum as anti-Mullerian hormone disables it and the lack of a second X to make ovaries is the second bar uncrossable. XX sex reversals do not ever produce sperm, which is coded for on the Y Chromosome.

There’s plenty more intersex disorders than my own, too, so I’ll go in depth on them.

Androgen Insensitivity Syndrome is the one most people are familiary with. It is caused by mutations in the AR gene and subsequently means a person will not have functioning androgen receptors. This means male development cannot take place but the Y Chromosome is still intact so anti-Mullerian hormone is released and testes are formed in place of ovaries and a uterus. These testes will not be exposed to androgens because the androgen receptors do not work and will forever remain within the body cavity where they are prone to becoming cancerous. Should they need to be removed due to cancerous potential or growth, the patient will require lifelong estrogen injections for bone and heart health in the absence of which they will die. AIS is the healthiest of intersex conditions.

Swyer Syndrome, the only XY condition to develop a uterus, does so because it is caused by mutations of genes that write for anti-Mullerian hormone like SRY and MAP3K1. Without functioning anti-Mullerian hormone, no Wolffian (male) structures like testes can form and instead Mullerian structures (uterus) forms. Ovaries do not form because they require two copies of the X-locused genes to make. Without ovaries or testes, a person with Swyer Syndrome will not have enough estrogen to keep their bones and heart healthy and will be unable to walk. They also do not go through puberty at all and that is very dangerous. Doctors must gives them shots of estrogen as soon as puberty should normally start to make sure their bones and hearts develop properly in that crucial time.

Hypospadias that is considered intersex is caused by 17-beta-hydroxylase deficiency–another form of CAH. It like all other forms of CAH is deadly without careful lifelong pharmaceutical dependence. It’s caused by mutations of CYP17A1 and severs production of important steroids like cortisol whilst also severing production of androgens. Hence why it causes deformities of the penis. All hypospadias patients are male, XY, because for a penis to develop rather than clitoris/clitoromegaly, there must by the blueprint of the Y Chromosome with its anti-Mullerian ability.

Lipoid Congenital Adrenal Hyperplasia is the rarest form of CAH but most overlooked. It is caused by mutations of the stAR gene that makes a protein to transport cholesterol into the adrenal glands to be made into all sex hormones and cortisol. Lipoid patients have absolutely no hormones, called global silencing, and the vast majority die shortly after birth. Because there are no hormones, XY patients develop a female phenotype but with internal testes because the Y Chromosome is still not mutated and allows for anti-Mullerian hormone to be produced. The testes and adrenal glands become stuffed with the body’s cholesterol buildup and are consumed into fatty tissues, hence the disorder’s name of “lipoid.” The testes are most often removed as they are highly prone to becoming cancerous. Lipoid patients take prednisone and Florinef in the same pattern as other CAH patients but may also take pregnenolone alongside them.

CAH by POR deficiency is another rare and overlooked form of CAH. It causes physical and mental deformities similar to that of Antley-Bixler Syndrome on top of the same medical needs as a lipoid CAH patient. This is what Antley-Bixler type manifestation looks like:

Turner Syndrome–X0 or X– is caused by a second X Chromosome not being passed down into a gamete. Turner patients are always female as they have no anti-Mullerian coding that would be present on a Y Chromosome. They suffer a myriad of physical and mental dysfunction. The photo below is of a young girl who suffers Turner Syndrome.

XXY, KIinefelter Syndrome, is another of the relatively healthy intersex disorders. It’s simply caused by the mother or father’s gamete passing down an extra X Chromosome it accidentally obtained while being formed. Klinefelter’s patients are always male as they have anti-Mullerian production by the Y Chromosome. No amount of X Chromosomes can undo the “no female” power switch of anti-Mullerian hormone. Klinefelter’s guys suffer infertility, loss of cognitive function, and are prone to testicular and breast cancer. This guy here’s a Klinefelter patient:

Having more than two sex chromosomes always leads to extreme loss of fertility to complete sterilization and loss of mental function. No one’s survived with more than five sex chromosomes so far. Extra chromosomes are never healthy, as can be told to you by people with Down’s Syndrome. The converse is true for Turner Sydrome. There’s no male counterpart to Turner Syndrome–a Y0 or Y genotype–because the X Chromosome is needed for life and those fetuses would not develop or live.

This should cover the vast majority of intersex disorders and if there’s any one in specific I can explain let me know.