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    Congenital Adrenal Hyperplasia

    CAH flag, for those with all forms of CAH

    Congenital Adrenal Hyperplasia (CAH) is an intersex variation that effects 1 in every 10,000 to 18,000 individuals. Those with this variation have adrenal glands (glands above the kidneys that produce hormones such as cortisol and aldosterone) that do not properly function in adrenal hormone production. Because of this, hormone production is affected in both CTM and CTF individuals alike.[1][2][3]

    CTF individuals with this variation typically have an enlarged clitoris, ambiguous genitals, or a penis, however they may have a vagina as well. Although they may appear fully female at birth (if they have a vagina,) upon puberty they have a tendency to grow excessive body hair and facial hair, have severe acne, and irregular or absent periods. They may or may not be fertile, and able to reproduce. Because of this, they tend to fall under hyperandrogenism as well. One with this variation may also have AFAB hypogonadism due to the ovaries possibly being effected by the testosterone, however this is not always the case.

    CTM individuals with this variation may also have hyper-masculine features, and will likely have an average penis, however they may have a macropenis or macroorchidism.

    Both CTF and CTM individuals with this variation tend to have an early puberty, early appearance of pubic hair, and rapid growth during childhood (however they stop growing at a smaller height than average.) Due to the condition of the glands on their kidneys, their bodies tend to fail at properly filtering, which causes an overfill of salt within the systems. This can be life-threatening if left untreated, however if treated, those with this variation typically grow up without issue.

    Nonclassic Congenital Adrenal Hyperplasia

    Nonclassic Congenital Adrenal Hyperplasia (NCAH) or Late Onset Congenital Adrenal Hypoplasia (LOCAH) is a milder form of CAH that hits later in life rather than at birth. Those with this variation are only missing some of the enzymes needed for cortisol production, and this causes their adrenal glands to be abnormally large, which is what causes this variation to take place. This variation is genetic, as both parents must have at least one defective enzyme that they pass down to their child.

    This variation can effect both CTM and CTF individuals, however it is more commonly found in CTF individuals. This variation tends to have effect around the pre-teen years in both CTF and CTM individuals. This variation is different than CAH alone, as it does not put the child at risk of death, due to its mild nature.

    CTF individuals with this variation tend to have the premature development of pubic hair, irregular menstruation, severe acne, and excessive body hair. They may or may not be able to reproduce, and may also have hyperandrogenism. CTM individuals with this variation tend to have early balding, acne, chronic prostatitis, and chronic pelvic pain syndrome. In some cases they may also have undersized testicles.[4]

    Some with this variation may show no signs of it at all, and go their entire life without knowing they have it.

    Lipoid Congenital Adrenal Hyperplasia

    Lipoid Congenital Adrenal Hyperplasia or Lipoid CAH is an extreme form of CAH, in which both the adrenal glands and gonadal glands (the glands above the testicles and/or ovaries) does not function properly. This causes not only the adrenal hormone production to be effected, but the testosterone and estrogen production to be effected as well.[5][6]

    Those with this variation most commonly have a vagina (regardless of whether they have XY or XX chromosomes), however they may have ambiguous genitals or a penis as well, as well as hyperpigmented skin (meaning their skin tone is darker than expected.) Those with this variation often experience weakness and trouble with eating, and can get severely ill due to the lack of hormones as well as salt over-production or under-procution within the system. This can be treated with hormone replacement therapy and similar treatments to the kidneys.[7]

    Genetics/Causes

    Those with these variations typically were conceived by someone with CAH or Lipoid CAH themselves as well. This means that at least one or more of the conceiving parents usually have these variations, however this is not always the case.

    This variation can also be caused by defects in the CYP17A1 gene or defects in the gene that encodes the enzyme steroid 11β-hydroxylase.

    History

    Nonclassic Congenital Adrenal Hyperplasia was discovered in 1957 by French biochemist Jacques Decourt.

    Flag

    The CAH flag was made by tumblr user trans-androgynous on Dec 17th, 2021. The shades of red, especially the top stripe, were derived from the color purple. The purple middle stripe stands for Intersex people. [8]

    References

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